VariantBase API (demo)

Demo only. No medical advice. Not for clinical use.

Endpoints

Static JSON responses to illustrate a simple contract.

GET /api/variants/BRCA1_c.68_69del.json
GET /api/variants/BRAF_c.1799T_A.json (note: “>” becomes “_” in filename)

Naming rule (sanitized filenames)

GENE:HGVS_c   →   /api/variants/GENE_HGVS_c.json

Examples:
BRCA1:c.68_69del   →   BRCA1_c.68_69del.json
BRAF:c.1799T>A    →   BRAF_c.1799T_A.json

Example

curl https://variantbase.com/api/variants/BRCA1_c.68_69del.json

Response schema (demo)

{
  "id": "BRCA1:c.68_69del",
  "gene": "BRCA1",
  "hgvs_c": "NM_007294.4:c.68_69del",
  "hgvs_p": "p.Glu23Valfs*17",
  "clin_sig": "Pathogenic (demo)",
  "acmg_criteria": ["PVS1","PM2"],
  "gnomad_af": 0.00001,
  "evidence": [
    {"label":"ClinVar (demo)", "url":"https://www.ncbi.nlm.nih.gov/clinvar/"},
    {"label":"gnomAD (demo)", "url":"https://gnomad.broadinstitute.org/"}
  ],
  "summary": "Demo-only; not for clinical use.",
  "last_reviewed": "2025-02-01"
}

404 example

{
  "error": "not_found",
  "message": "Variant not in demo set."
}

Contact

Generic industry term for AI-ready variant knowledge bases, genomic annotation tools, and developer APIs. Platform-agnostic design compatible with standard clinical genomics and bioinformatics protocols.

Questions or acquisition interest? Send a note.

Disclaimer: Demo data for concept illustration only. No medical advice. Not for clinical decision-making. All product names, logos, and brands are the property of their respective owners. Any references are made for identification purposes only and do not imply endorsement.