Variants Diseases
API Reference
Variants Diseases
Retrieve diseases and genes associated with the query variant from ClinGen.
At least one of these fields is required: variant_id, spdi, hgvs, rsid, ca_id, or region.
Example: variant_id = NC_000012.12:102917129:T:C
spdi = NC_000012.12:102917129:T:C,
hgvs = NC_000012.12:g.102917130T>C,
rsid = rs62514891,
ca_id = CA114360,
chr = chr12,
region = chr12:102866500-102866700 (maximum length: 10kb),
assertion = Pathogenic,
pmid = 2574002.
The limit parameter controls the page size and can not exceed 100.
Pagination is 0-based.
Variants Diseases
Query Parameters
Available options:
Benign, Likely Benign, Likely Pathogenic, Pathogenic, Uncertain Significance Available options:
Homo sapiens Available options:
true, false