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Variants Diseases

Query Parameters

spdi
string
hgvs
string
rsid
string
ca_id
string
variant_id
string
region
string
assertion
enum<string>
Available options:
Benign,
Likely Benign,
Likely Pathogenic,
Pathogenic,
Uncertain Significance
pmid
string
organism
enum<string>
default:Homo sapiens
Available options:
Homo sapiens
verbose
enum<string>
default:false
Available options:
true,
false
page
number
default:0
limit
number

Response

Successful response

name
string
required
sequence_variant
disease
gene_id
string
gene_name
string
assertion
string
pmids
string[]
source
string
source_url
string