uniprot_resolve_clinvar
Fetch ClinVar records for a gene encoded by a UniProt entry, returning clinical significance, review status, and condition list. Optionally filter 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 | Maximum number of ClinVar records to return; capped at 50. | |
| change | No | Optional HGVS-shorthand protein change to filter to, e.g. 'R175H'. Leave empty to return all ClinVar records for the gene. | |
| 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 |