ClinGen Evidence Repository - JSON-LD API
OpenAPI specification and documentation for the ClinGen Evidence Repository JSON-LD REST API
Overview

This site presents the documentation and OpenAPI Specification (AOS) for the Evidence Repository JSON-LD REST API

The ClinGen Evidence Repository is an expert curated repository for variant interpretation/classification that have been submitted in the context of a specific condition/disease and an interpretation guideline. The repository allows for retrieving Scientific Evidence and Provenance information Ontology (SEPIO) compliant JSON-LD documents which contain all the tags (evidence codes) and supporting evidence submitted by the expert panel for a specific variant/condition pair. The reasoning engine is run on all the evidence codes to generate a classification such as Pathogenic, Likely Pathogenic, etc.

The repository supports several ACMG-AMP derived guidelines published by the ClinGen expert panels.