{"repo":"biothings/myvariant.info","free":true,"listed":false,"github":"https://github.com/biothings/myvariant.info","clone":"git clone https://github.com/biothings/myvariant.info.git","description":"MyVariant.info: A BioThings API for human variant annotations","language":"Python","stars":98,"topics":["biothings","variants","api","webservice","bioinformatics","variant-annotations","annotations","ncats-translator"],"license":null,"category":"api-integrations-sdks","readme_excerpt":"Introduction ------------- This is a project coming out of 1st NoB Hackathon. The scope of this project is to aggregate existing annotations for genetic variants. Variant annotations have drawn huge amount of efforts from researchers, which made many variant annotation resources available, but also very scattered. Doing integration of all of them is hard, so we want to create a simple way to pool them together first, with high-performance programmatic access. That way, the further integration (e.g. deduplication, deriving higher-level annotations, etc) can be much easier. From the discussion of the hackathon, we decided a strategy summarized as below: A very simple rule to aggregate variant annotations each variant is represented as a JSON document the only requirement of the JSON document is that the key of this JSON document (\" id\" field in this document) follows HGVS nomenclature. For example: that way, we can then merge multiple annotations for the same variant into a merged JSON document. Each resource of annotations is under its own field. Here is a merged example. A powerful query-engine to access/query aggregated annotations The query engine we developed for MyGene.info can be easily adapted to provide the high-performance and flexible query interface for programmatic access. MyGene.info follows the same spirit, but for gene annotations. It currently serves 3M request per month. User contributions of variant annotations User contribution is vital, given the scale of a","default_branch":null,"files":null,"tree":[],"storefront":"/r/biothings","claimed":false,"request_supported":{"post":"https://gitbuyer.com/r/biothings/myvariant.info/request-supported","requests":0},"note":"indexed from public GitHub; nothing is for sale on this page. Clone it from GitHub. Paid listings live at /search."}