lookup_variant
Look up a variant: ClinVar clinical interpretation, dbSNP records, gnomAD population frequency and gene constraint, CADD deleteriousness, or GWAS/eQTL associations.
Input Schema
| Name | Required | Description | Default |
|---|---|---|---|
| limit | No | maximum records (1–20). | |
| query | Yes | an rsID, HGVS or chrom-pos-ref-alt id, or a command such as "get_variant:variant_id=19-44908822-C-T" or "gene_constraint:gene_symbol=BRCA2". The eQTL Catalogue is the exception and needs a LOCUS, because its summary statistics are indexed by position and its REST API is retired: "eqtl_list_datasets tissue_label=macrophage" to pick a dataset, then "eqtl_associations dataset_id=QTD000021 region=1:109274570-109279000 gene_id=ENSG00000134243". | |
| _files | No | The project: record references shaped like _subject. Their records become library documents a tool names in sequences/parts/document; a trace or alignment is found by file name. | |
| source | Yes | which authority to ask. | |
| _subject | No | The record to act on: exactly one of sequence, accession (+source), sample (an id from list_samples) or file ({name, text} or {name, base64}); record_index picks one record of several. |
Output Schema
| Name | Required | Description | Default |
|---|---|---|---|
| count | Yes | how many records came back, which is a result even when it is zero | |
| records | Yes | the records the authority returned, in its own field names — wire them into a tool that takes ids, or read them in the transcript | |
| envelope | Yes | the authority's whole answer: paging, totals and the query it actually ran | |
| provenance | Yes | the authority, the exact endpoints called and when — what makes an answer re-checkable without re-running it |