diff --git a/README.md b/README.md index 4b23196..13dbe60 100644 --- a/README.md +++ b/README.md @@ -3,6 +3,30 @@ # dotty - cdot-based position projection +## What can it do? + +Run it the background, e.g., from `main` as + +``` +$ DATA_DIR=$PWD/data \ + pipenv run uvicorn dotty.main:app --host 0.0.0.0 --port 8080 --reload +``` + +Then, resolve c./n./g. variants to SPDI-like variants + +``` +$ curl 'http://127.0.0.1:8080/api/v1/to-spdi?q=NM_000059.3:c.274G%3EA' 2>/dev/null | jq . +{ + "spdi": { + "assembly": "GRCh38", + "contig": "13", + "pos": 32319283, + "reference_deleted": "C", + "alternate_inserted": "A" + } +} +``` + ## Obtaining Data `datasets` is the NCBI `datasets` tool.