Interpretation as a service. Your brand, our signature, India's data.
Take the data, the workbench or the signed report. Laboratories with their own director can stop at validated calls and the annotated warehouse; hospitals, platforms and research groups can take a report grouped by the care pathway it leads to. Either way: one pipeline, one knowledgebase, one call to pull the result.
Four ways in, one engine behind them
NABL or ISO 15189 laboratories that sequence but do not want to build and maintain a clinical interpretation team.
- Take the data only: sequencing through our partner laboratory, accelerated secondary analysis with the full caller set, QC and the annotated warehouse, delivered into an Interpret workspace or by API. Your curators interpret, your director signs.
- Or take the report: upload a VCF or FASTQ set with phenotype terms; receive a prioritised, classified, director-signed report under your own branding.
- Carrier, actionable, pharmacogenomic and rare-disease modules on the same knowledgebase, with the detection matrix stated per report.
- Reanalysis of previously negative exomes and genomes as the evidence base changes, without a new sample.
Departments and clinics that order genomic screening for their patients and want a report their clinicians can act on.
- Order Genavli Screen or Genavli Genome for a patient or a couple; samples go to our partner laboratory, the report comes back to you.
- Findings grouped by the care pathway they lead to: reproductive risk, heart, metabolic and kidney, cancer, medicines, neurology.
- Genetic counselling included; cascade testing of relatives on request.
Platforms that want genomic screening inside their own product, ordered by their affiliated physicians.
- One API call to order, one to pull results; OAuth-scoped access per member and webhooks when a case moves.
- Reports as structured JSON, browsable pages or PDF, with limitation statements you can show as they are.
- No raw-genome resale, no direct-to-consumer path: every order is clinician-authorised and every result is counselled.
Cohort studies and institutions working on Indian population genomics.
- Validated low-pass imputation and 30× pipelines, with the analytical results published rather than described.
- Polygenic-score calibration and allele-frequency work anchored on GenomeIndia, where the data-access terms allow.
- Compute new analyses on consented, stored genomes without recontacting or resequencing participants.
Take the data, the workbench, or the signed report
Laboratories with their own signing director can stop at the data or use our engine as decision support; everyone else takes the full service. The rungs share one pipeline and one knowledgebase, so moving up is a contract change, not an integration.
Your director signs. Genavli delivers analytical validity.
- Sequencing through our NABL-accredited partner laboratory, passed through at cost
- Whole-genome or exome secondary analysis with the full caller set: small variants, CNV, SV, repeat expansions, ROH, targeted callers, HLA, pharmacogenomic star alleles
- QC, clinical-grade variant annotation and the Indian-frequency warehouse tables per sample
- Delivered into an Interpret workspace for your curators, or pulled by API; detection matrix and limitation statements travel with the data
Your director signs. Genavli's engine does the first pass.
- Everything in the data service
- Engine prioritisation, inheritance models, screening blocks, triage presets and the curation workspace
- Classification suggestions with every evidence line, Indian population frequencies, founder-variant handling
- Reanalysis notifications when the knowledgebase changes a stored result
Genavli interprets and signs. Counselling included.
- Everything in the workbench
- Classification, report writing and director sign-out by Genavli
- Genetic counselling for the patient or couple; cascade testing on request
- White-label or co-branded report, JSON, page or PDF
On the data and workbench rungs Genavli is responsible for analytical validity: the calls, their quality metrics, the detection matrix and the limitation statements that accompany every sample. Clinical interpretation and the signed report are the laboratory's. On the full service, both are Genavli's.
Order. We interpret. Pull the report.
- 01Order, or send what you have
Create a case and samples in one API call, or upload an existing VCF. Consent for actionable findings is captured separately from carrier screening at this step.
- 02We sequence and interpret
Our partner laboratory sequences; the Genavli engine classifies against the Indian knowledgebase and a director signs the report. A webhook fires as the case moves: received, analysed, signed out.
- 03Pull the report into your product
Retrieve the signed report as JSON, as a browsable page or as PDF in one call, with the detection matrix and limitation statements attached.
REST API with OAuth 2.0 scopes per partner and per member; webhooks on every case transition. Typed contracts published for TypeScript and Python.
Your name on the report, Genavli's signature on the interpretation. The limitation statements and the detection matrix are not optional.
Stored genomes and exomes are reinterpreted when the knowledgebase changes; partners are notified of reclassifications that change a result.
Processing and storage in asia-south1 under the DPDP Act, 2023. Community and ancestry information is never printed on a clinical report or made group-queryable.
Findings grouped by the care pathway they lead to
A report is organised around the next clinical step, not around a gene list. Each area names what it covers, what each test tier can do for it, and where the finding goes next. Polygenic scores stay on the research-grade wellness report with a South Asian calibration statement; they never appear on the clinical report.
Could a couple pass on a serious recessive or X-linked condition?
- β- and α-thalassaemia
- Spinal muscular atrophy
- Cystic fibrosis
- Fragile X
- Duchenne muscular dystrophy
- ACMG Tier-3 carrier list (113 genes) plus the India-enriched core
In India: Thalassaemia carrier frequency reaches 3–17 % in several Indian communities; consanguineous marriage raises recessive risk in many regions.
Is there an inherited cardiac or vascular condition, or an elevated polygenic risk?
- Familial hypercholesterolaemia (LDLR, APOB, PCSK9)
- Hypertrophic and dilated cardiomyopathy
- Long QT, Brugada, CPVT
- Marfan, Loeys-Dietz, familial aortic dissection
- Coronary artery disease and atrial fibrillation (polygenic, research-grade)
In India: South Asians develop coronary disease a decade earlier on average; the MYBPC3 founder deletion sits near 3 % allele frequency in Indian datasets.
Is there a monogenic form of diabetes or kidney disease, and what is the polygenic background?
- MODY (HNF1A, HNF4A, GCK)
- Autosomal dominant polycystic kidney disease
- Wilson disease
- Hereditary haemochromatosis
- Type 2 diabetes, BMI and chronic kidney disease (polygenic, research-grade)
In India: Type 2 diabetes and chronic kidney disease start earlier and at lower body weight in South Asians than in European populations.
Is there a hereditary cancer syndrome in the family?
- Hereditary breast and ovarian cancer (BRCA1, BRCA2, PALB2)
- Lynch syndrome
- Familial adenomatous polyposis
- Li-Fraumeni syndrome
- Multiple endocrine neoplasia
- Breast, colorectal and prostate cancer (polygenic, research-grade)
Which common drugs need a different dose or a different choice for this person?
- Clopidogrel, warfarin, statins
- Codeine, tramadol and other CYP2D6 substrates
- Thiopurines (TPMT, NUDT15)
- Fluoropyrimidines (DPYD)
- HLA-linked hypersensitivity (carbamazepine, allopurinol, abacavir)
In India: NUDT15 variants causing thiopurine toxicity are far more common in South and East Asians than in Europeans.
Is there an inherited neurological condition, including a repeat expansion?
- Huntington disease
- Friedreich ataxia
- Spinocerebellar ataxias
- Myotonic dystrophy
- Fragile X and FXTAS
- Duchenne and Becker muscular dystrophy
Where does this genome come from, and what common traits does it carry?
- Ancestry composition
- Lactose and alcohol metabolism
- Caffeine, bitter taste and other common traits
- Polygenic scores with South Asian calibration statements
Priced by rung, plus a platform licence
Pricing follows the work: per sample for the pipeline and data, per case or per seat for the workbench, per signed report for interpretation, and an annual platform licence for API access, storage and partner support. Figures are agreed at contract; the structure is fixed and published here.
| Component | Covers | Billed |
|---|---|---|
| Pipeline and data, per sample | Secondary analysis with the full caller set, QC, annotation and warehouse tables, delivered to Interpret or by API (data service and workbench rungs) | Per sample |
| Workbench, per case or per seat | Engine prioritisation, screening blocks, presets and the curation workspace for the laboratory's own curators | Per case or per seat |
| Interpretation, per report | Classification, report, director sign-out and counselling slot for one case, by tier (Screen or Genome) and module set | Per signed report |
| Sequencing, per sample | Partner laboratory sequencing and bundled confirmatory assays, passed through at cost when Genavli arranges it | Per sample |
| Platform licence, annual | API and OAuth access, webhooks, genome storage, reanalysis notifications, partner support | Annual; first months waived in year one |
| Reanalysis | Re-interpretation of a stored genome or exome on a knowledgebase change | Per report, reduced rate |
No direct-to-consumer kits, no raw-genome resale, no polygenic scores on clinical reports. Every order is clinician-authorised, every result is counselled, and genomic data of Indian residents never leaves India.
Start with a conversation, then a pilot.
Write to support@genavli.in with who you are and what you order today. We reply with the integration guide and a pilot proposal for your first cases.