uniprot_resolve_clinvar
Retrieves clinical significance classifications from ClinVar for variants in a UniProt gene, with optional protein-change filter. Combines UniProt variant lookup with population-level clinical data.
Instructions
Look up ClinVar records for the gene encoded by a UniProt entry.
First fetches the entry to extract the canonical gene symbol, then
queries NCBI eutils ClinVar by gene (and optional protein-change
filter, e.g. R175H). Returns clinical-significance classification,
review status, condition list (trait_set), molecular consequence,
and the protein-change list per record.
Critical for clinical workflows — UniProt's natural-variant
annotations stop at literature-described variants. ClinVar carries
every variant submitted by clinical labs, with curated significance
classifications. Combine uniprot_lookup_variant (UniProt side)
with uniprot_resolve_clinvar (population side) for a full
variant-effect picture.
Calls https://eutils.ncbi.nlm.nih.gov — declared in PRIVACY.md.
Input Schema
| Name | Required | Description | Default |
|---|---|---|---|
| accession | Yes | ||
| change | No | ||
| size | No | ||
| response_format | No | markdown |
Output Schema
| Name | Required | Description | Default |
|---|---|---|---|
| result | Yes |