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IMPORTANT NOTICE:
Due to a (yet another) planned power outage, MobiDetails won't be available from 7:45 to 10 am, GMT+2, on Tuesday, April 11th. In addition, the SpliceAI-visual feature wil be shut down shortly before and restored shortly after.
Online DNA Variant Interpretation
Public user
, welcome to MobiDetails: You can
investigate variants in
19083 genes and 110840 isoforms
MobiDetails is an annotation platform dedicated to the interpretation of DNA variations.
MobiDetails relies on genes to annotate variants (see about page). When a variant is annotated, it then aggregates information from multiple sources (see about page) including population frequencies, predictors, etc.
If your gene is not in the list, you can request it by
.
MobiDetails is developed at Montpellier University Hospital (Laboratory of Molecular Genetics) and is free for academic use. Non-academic users must register, and should read this.
If you plan to make an extensive usage of the API, please include a User-Agent in you http query, and send us a message to communicate this User-Agent - we will redirect your queries to the proper VariantValidator server in order not to penalize other users.
Search engine:
The search engine has two main functions:
- Retrieve pre-existing annotations - already added by users.
- by exact HGVS c. or p. (allowing variations), e.g. 'p.Arg34Ter', 'p.Arg34*', 'c.100C>T', 'c.100c>t'...
- by exact HGVS genomic nomenclature (hg19 or hg38), e.g. 'chr1:g.216595579G>A' or 'NC_000001.10:g.216595579G>A'
- a partial number match on HGVS c. or p. variant names, e.g. '229' would return all variants with 229 in c. name or p. name
- you can also use a decorator '%' with numbers to look for exact matches, e.g. '%2299' would return variants that contain 2299 in c. name or p. name, but not 22991, for example
- gene symbol, e.g. 'USH2A', including HGNC previous symbols and HGNC aliases
- dbSNP rs identifier, e.g. 'rs863225293'
- 1-216422237-G-A, pseudo VCF expression (default hg38), or hg19-1-216595579-G-A, hg38:1:216422237:G:A, separator being ':', '_' or '-'. Genome version supports GRCh37, GRCh38, hg19, hg38, case insensitive.
- the keyword 'last' will return all variants annotated during the last 7 days
- Annotate new variants using the following formats:
- NC_000001.11:g.216422237G>A;USH2A - e.g. strict HGVS genomic (hg38/hg19) + ';' + HGNC gene symbol
- NM_206933.2:c.100C>T or NM_206933.2(USH2A):c.100C>T
- rs772808534 (can take up to 30-40s)
- 1-216422237-G-A, pseudo VCF expression (default hg38), or hg19-1-216595579-G-A, hg38:1:216422237:G:A, separator being ':', '_' or '-'. Genome version supports GRCh37, GRCh38, hg19, hg38, case insensitive.
