Examples¶
This section contains example queries for common types of searches on the meta-knowledgebase.
Searching for interpretations given a variant or gene and disease
BRAF V600E melanoma (Try it)
BRAF “breast cancer” (Try it)
Searching primary fields only for interpretations given a gene and disease
genes:BRAF diseases:”breast cancer” (Try it)
Searching for interpretations describing a gene fusion
BCR ABL fusion (Try it)
ABL fusion (Try it)
Searching for tier I interpretations for a gene
genes:EGFR evidence_label:(A OR B) (Try it)
Search for interpretations describing increased sensitivity to a drug
Cisplatin association.evidence.description:sensitiv* (Try it)
Search the API for interpretations using the GA4GH VR Specification
The GA4GH VR specification is a way of representing variants for quick lookup across systems: