Supported Formats
VarLens supports several JSON-based data formats for variant import.
JSON Columnar Format
The most common format. Data is organized with a header array describing columns and a data array of row values. Files must be gzip-compressed (.json.gz).
json
{
"CaseName": {
"header": [
{ "id": "Chr", "type": "text", "label": "Chromosome" },
{ "id": "Pos", "type": "number", "label": "Position" },
{ "id": "Ref", "type": "text", "label": "Reference" },
{ "id": "Alt", "type": "text", "label": "Alternate" },
{ "id": "Gene", "type": "dictionary", "label": "Gene",
"dataDictionary": { "1": "BRCA1", "2": "TP53" } },
{ "id": "Consequence", "type": "dictionary", "label": "Consequence",
"dataDictionary": { "1": "HIGH", "2": "MODERATE" } }
],
"data": [
["1", 100000, "A", "G", "1", "2"],
["17", 200000, "C", "T", "2", "1"]
]
}
}Header Types
- text — Plain text value
- number — Numeric value
- dictionary — Lookup value referencing a dictionary map in the header
Recognized Column IDs
| Column ID | Maps to | Notes |
|---|---|---|
Chr | Chromosome | |
Pos | Position | |
Ref | Reference allele | |
Alt | Alternate allele | |
Gene | Gene symbol | Dictionary type |
Consequence / Impact | Consequence severity | Dictionary: 1=HIGH, 2=MODERATE, 3=LOW, 4=MODIFIER |
Func / VarType | Functional class | |
selectedTranscript | Transcript | Dictionary type |
cDNA / HGVS_C | cDNA change | |
AAChange / HGVS_P | Protein change | |
GnomadAF / GnomTotal | gnomAD AF | |
CADDPhredScore | CADD score | |
Qual-Index / Qual | Quality score | |
ClinVSig / ClinVar | ClinVar significance | |
GTNum-Index / Genotype | Genotype | |
HpoSimScore | HPO similarity | Dictionary type |
MoI | Mode of inheritance | Dictionary: AD, AR, XLD, etc. |
Omim | OMIM number |
JSON Object Format
Structured format with metadata and sample-level variant objects:
json
{
"metadata": { "version": "1.0" },
"samples": {
"SampleA": {
"variants": [
{
"chr": "1",
"pos": 100000,
"ref": "A",
"alt": "G",
"gene_symbol": "GENE1"
}
]
}
}
}JSON Simple Format
A flat array of variant objects:
json
{
"variants": [
{
"chr": "1",
"pos": 100000,
"ref": "A",
"alt": "G"
}
]
}Compression
All JSON formats must be gzip-compressed (.json.gz). Uncompressed .json files are not currently supported.