ensembl_region
Query genes, transcripts, and known variants within a genomic interval on GRCh38 to triage loci and GWAS hit regions; variation is capped to a 50 kb window for spans over 50 kb.
Instructions
Query what lives in a genomic interval on the current assembly (GRCh38 for human): genes/transcripts (stable IDs, symbols, biotypes) and known variants (rsIDs, alleles, consequence terms, clinical significance).
Ideal for locus triage — "what genes and known variants sit in this GWAS hit interval?". Genes/transcripts are always fetched for the FULL requested span, but variation density can reach ~100k variants in dense loci (which times out upstream), so when the span exceeds 50 kb variation is queried only for a 50 kb window centered on the region midpoint — the result echoes effective_variation_window (the coordinates actually queried for variation) and variation_truncated (names the dropped span) when this cap applies. To sweep variation across a large interval, issue adjacent region calls. Keep spans modest (<1 Mb recommended); output is capped at limit with a truncated marker. For sequence text use genbank_get; for entity-level annotation chain IDs into gene_get / variant_get.
Input Schema
| Name | Required | Description | Default |
|---|---|---|---|
| limit | No | Maximum features returned | |
| region | Yes | Genomic region chr:start-end (1-based, GRCh38 for human) — e.g. 7:140450000-140480000 | |
| species | No | Species — 'human' (default), 'mouse', … | human |
| features | No | Feature types to include |