What problem does it solve?
This Skill provides programmatic access to the Ensembl REST API, enabling users to retrieve detailed genomic information for genes, variants, and sequences.
Core Features & Use Cases
- Gene Information: Look up genes by symbol or Ensembl ID to get their location, sequence, and description.
- Variant Analysis: Query variants using rsIDs to find their genomic context and potential effects.
- Sequence Retrieval: Fetch genomic, cDNA, or protein sequences for specific Ensembl IDs.
- Regional Overlap: Identify genes or other features within a specified genomic region.
- Cross-Species Homologs: Find orthologous genes in different species.
- Use Case: A researcher needs to find the genomic location and known variants for a specific gene of interest, like BRCA2, and then check if any orthologs exist in the mouse genome.
Quick Start
Use the query-ensembl skill to look up the gene BRCA2 and print its Ensembl ID and genomic location.