uniprot_resolve_clinvar
Resolve a UniProt accession to its gene symbol and query ClinVar for human variant records and classifications, optionally filtering by a protein change such as R175H.
Instructions
Look up ClinVar records for the gene encoded by a UniProt entry.
First fetches the human UniProt entry to extract its gene symbol,
then queries NCBI eutils ClinVar by gene (and optional protein-change
filter, e.g. R175H). Returns submitted human variant records
with their classifications, review status, conditions, molecular
consequences, and protein changes where present.
ClinVar is a human variation archive. Gene symbols are not species- specific identifiers, so nonhuman or taxonomically unverified entries must not inherit human ClinVar classifications. ClinVar coverage is submission-dependent; a missing record does not establish benignity.
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 |