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:

  • By Allele accession (Try it)

  • By Sequence Location accession (Try it)