ensembl_lookup
Query genes, transcripts, and variants by ID or symbol, retrieve cross-references, and perform ID translation. Supports multiple species and additional data inclusion for detailed genomic insights.
Instructions
Look up genes, transcripts, variants by ID or symbol. Get cross-references and perform ID translation. Covers /lookup/* and /xrefs/* endpoints plus variant_recoder.
Input Schema
| Name | Required | Description | Default |
|---|---|---|---|
| expand | No | Additional data to include (e.g., ['Transcript', 'Exon'], ['Translation'], ['UTR']) | |
| external_db | No | External database name for xrefs lookup (e.g., 'HGNC', 'UniProtKB/Swiss-Prot', 'RefSeq_mRNA') | |
| identifier | Yes | ID or symbol to look up (gene, transcript, variant, etc.) (e.g., 'ENSG00000141510', 'BRCA1', 'rs699', 'ENST00000288602') | |
| lookup_type | No | Type of lookup to perform | id |
| species | No | Species name (e.g., 'homo_sapiens', 'mus_musculus') | homo_sapiens |