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

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

Introduction

Evidence Registry is a public repository for variant interpretation that have been submitted by users in the context of a specific condition/disease and an interpretation guideline. The registry 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 all users for a specific allele/condition pair. The reasoning engine is run on all tags submitted by all users for an allele/condition pair under a specific guideline with the intention that a higher quality of variant interpretation will be generated.

Initial efforts will focus on interpretations using tag-based American College of Medical Genetics & Genomics (ACMG) guideline followed by support for non-ACMG or other ACMG derived reasoning.