runchuan-bu/bioclaw/query-ensembl

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Query Ensembl for genomic data. Use when user asks about gene coordinates, genomic sequences, variants, gene structure, exons, transcripts, or species comparison. Triggers on "ensembl", "gene coordinates", "genomic location", "exon", "transcript", "variant location", "rsid", "rs number".

Install

npx vskill@latest install runchuan-bu/bioclaw/query-ensembl

SKILL.md

Ensembl REST API Query

Query the Ensembl REST API for genomic annotations, sequences, and variants.

When to Use

  • User asks about a gene's genomic location, exons, or transcripts
  • User wants to look up an rsID or variant
  • User needs genomic/cDNA/protein sequences
  • User asks about gene structure or regulatory features
  • User wants cross-species gene information

How to Execute

python
import requests
import json
BASE_URL = "https://rest.ensembl.org"
HEADERS = {"Content-Type": "application/json", "Accept": "application/json"}
# 1. Gene lookup by symbol
def lookup_gene(symbol, species="homo_sapiens"):
url = f"{BASE_URL}/lookup/symbol/{species}/{symbol}"
r = requests.get(url, headers=HEADERS, params={"expand": 1})
r.raise_for_status()
return r.json()
# 2. Get sequence
def get_sequence(ensembl_id, seq_type="genomic"):
url = f"{BASE_URL}/sequence/id/{ensembl_id}"
r = requests.get(url, headers=HEADERS, params={"type": seq_type})
r.raise_for_status()
return r.json()
# 3. Variant lookup by rsID
def lookup_variant(rsid, species="homo_sapiens"):
url = f"{BASE_URL}/variation/{species}/{rsid}"
r = requests.get(url, headers=HEADERS)
r.raise_for_status()
return r.json()
# 4. Get overlapping features in a region
def overlap_region(species, chrom, start, end, feature="gene"):
url = f"{BASE_URL}/overlap/region/{species}/{chrom}:{start}-{end}"
r = requests.get(url, headers=HEADERS, params={"feature": feature})
r.raise_for_status()
return r.json()
# 5. Cross-species homologs
def get_homologs(ensembl_id, target_species=None):
url = f"{BASE_URL}/homology/id/{ensembl_id}"
params = {}
if target_species:
params["target_species"] = target_species
r = requests.get(url, headers=HEADERS, params=params)
r.raise_for_status()
return r.json()
# Example: look up BRCA2
gene = lookup_gene("BRCA2")
print(f"Gene: {gene['display_name']}")
print(f"Ensembl ID: {gene['id']}")
print(f"Location: chr{gene['seq_region_name']}:{gene['start']}-{gene['end']}")
print(f"Strand: {'+' if gene['strand'] == 1 else '-'}")
print(f"Biotype: {gene['biotype']}")
print(f"Description: {gene.get('description', 'N/A')}")

Key Endpoints

EndpointUse
/lookup/symbol/{species}/{symbol}Gene info by symbol
/lookup/id/{id}Info by Ensembl ID
/sequence/id/{id}?type=genomicGet sequence
/variation/{species}/{rsid}Variant info
/overlap/region/{species}/{chr}:{start}-{end}Features in region
/homology/id/{id}Orthologs/paralogs
/vep/{species}/hgvs/{hgvs}Variant effect prediction

Notes

  • Region queries max 4,900,000 bp
  • Species: homo_sapiens, mus_musculus, danio_rerio, drosophila_melanogaster
  • Always use application/json Accept header

Follow-up Suggestions

  • "Want me to get the protein sequence for this gene?"
  • "Should I check for known pathogenic variants?"
  • "Want me to find orthologs in mouse?"

Security

  • Security scanPassed, 95 of 100Pattern checks on the skill's files.
  • Model reviewPassed

Quality evaluation

  • Task evaluationNot runNo evaluation yet. Run one in Skill Studio.

Source

Popularity

Repository stars
384
Repository forks
48
7-day trend score
30

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