API · /clinvar-api

ClinVar API

ClinVar as an API, powered by the US National Library of Medicine via NCBI E-utilities. ClinVar is the public archive of the relationships between human genetic variants and health, recording the clinical significance (interpretation) of each variant — whether it is Pathogenic, Likely pathogenic, of Uncertain significance, Likely benign or Benign — together with the conditions it is associated with. /v1/search?gene=BRCA1 searches ClinVar by gene symbol, or by free text with q= (e.g. a disease or HGVS expression), returning the total number of matching variants and a list of ClinVar variation ids. /v1/variant?id=4852102 returns a variant's summary: its ClinVar accession (VCV…), title, variant type, the variation and cDNA names, the clinical classification and review status, the associated condition(s), the gene(s) and primary gene, the chromosome and location, the protein change and the molecular consequence, plus a link to the ClinVar record. Get a variation id from /v1/search, then fetch its details. Ideal for clinical-genomics and variant-annotation pipelines, rare-disease and genetic-counselling tools, and research dashboards. Data from NCBI ClinVar (public domain). This is clinical variant interpretation — distinct from population allele-frequency databases (such as gnomAD) and from protein/sequence databases. Please keep request rates modest under NCBI fair-use.