uniprot_lookup_variant
Look up an HGVS amino-acid change (e.g., R175H, V600E) in UniProt natural-variant annotations and retrieve matching variant features with curated disease associations.
Instructions
Look up an HGVS-shorthand amino-acid change (e.g. R175H,
V600E, R248*) in the UniProt entry's natural-variant
annotations. Returns the matching variant feature(s) including the
UniProt-curated description (often a disease association). A null
result here does NOT mean a variant is benign — UniProt only
annotates literature-described variants; ClinVar / dbSNP carry
population-level data.
Input Schema
| Name | Required | Description | Default |
|---|---|---|---|
| accession | Yes | ||
| change | Yes | ||
| response_format | No | markdown |
Output Schema
| Name | Required | Description | Default |
|---|---|---|---|
| result | Yes |