Diseases Variants
API Reference
Diseases Variants
Retrieve variants and genes associated with the query disease from ClinGen.
Either disease_id or disease_name is required.
Example: disease_id = MONDO_0009861,
disease_name = phenylketonuria,
assertion = Pathogenic,
pmid = 2574002.
The limit parameter controls the page size and can not exceed 100.
Pagination is 0-based.
Diseases Variants
Query Parameters
Available options:
Benign, Likely Benign, Likely Pathogenic, Pathogenic, Uncertain Significance Available options:
Homo sapiens Available options:
true, false