uniprot_resolve_clinvar
Resolves a UniProt accession to ClinVar records by retrieving the gene symbol and querying NCBI eutils. Returns clinical significance, review status, conditions, and molecular consequences, optionally filtered by protein change.
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 |
|---|---|---|---|
| size | No | ||
| change | No | ||
| accession | Yes | ||
| response_format | No | markdown |
Output Schema
| Name | Required | Description | Default |
|---|---|---|---|
| result | Yes |