uniprot_lookup_variant
Look up an HGVS amino-acid change in UniProt's natural-variant annotations to retrieve curated variant descriptions and 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 |
|---|---|---|---|
| change | Yes | HGVS-shorthand amino-acid change, e.g. 'R175H', 'V600E', 'R248*' (stop). Format: <original residue><1-indexed position><alt residue or '*'>. | |
| accession | Yes | UniProt accession, e.g. 'P04637' (human TP53) or 'P38398' (human BRCA1). Both reviewed (Swiss-Prot) and unreviewed (TrEMBL) accessions are accepted; case-sensitive. | |
| response_format | No | 'markdown' (default) for a human-readable report with a provenance footer, or 'json' for a machine-parseable structured payload with the same data. Any other value is rejected. | markdown |
Output Schema
| Name | Required | Description | Default |
|---|---|---|---|
| result | Yes |