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id

String

Unique variant ID,

the format is

this consists of chromosome, position, reference and alternate alleles in this format: chrom:pos:ref:alt

chromosome

String

The chromosome where the genomic

variation occurred

variant is located

start

int

The

normalised

1-based position where the genomic

variation starts

variant starts. For variants coming from VCF files, this position is likely to be normalised

end

int

The

normalised

1-based position where the genomic

variation ends

variant ends. For variants coming from VCF files, this position is likely to be normalised

reference

String

Reference

allele

allele. For variants coming from VCF files, this position is likely to be normalised
alternate String	Alternate allele. For variants coming from VCF files, this position is likely to be normalised
ancestralAllele String
xrefs List<Xref>
hgvs List<String>

Alternate allele

displayConsequenceType

String

consequenceTypes

List<ConsequenceType>

geneName

String

HGNC gene name

ensemblGeneId

String

ensemblTranscriptId

String

strand

String

biotype

String

exonOverlap

List<ExonOverlap>

number

String

percentage

float

transcriptAnnotationFlags

List<String>

cdnaPosition

int

cdsPosition

int

codon

String

proteinVariantAnnotation

ProteinVariantAnnotation

uniprotAccession

String

uniprotName

String

position

int

reference

String

alternate

String

uniprotVariantId

String

functionalDescription

String

substitutionScores

List<Score>

score

double

source

String

description

String

keywords

List<String>

features

List<ProteinFeature>

id String
start int
end int
type String
description String

sequenceOntologyTerms

List<SequenceOntologyTerm>

accession

String

name

String

populationFrequencies

List<PopulationFrequency>

study String
population String
refAllele String
altAllele String
refAlleleFreq float
altAlleleFreq float
refHomGenotypeFreq float
hetGenotypeFreq float
altHomGenotypeFreq float

minorAllele

String

minorAlelleFreq

float

conservation

List<Score>

score

double

source

String

description

String

geneTraitAssociation

List<GeneTraitAssociation>

id String
name String
hpo String
score float
numberOfPubmeds int
associationTypes List<String>
sources List<String>
source String

geneDrugInteraction

List<GeneDrugInteraction>

geneName String
drugName String
source String
studyType String
type String

traitAssociation

List<EvidenceEntry>

functionalScore

List<Score>

score

double

source

String

description

String

cytoband

List<Cytoband>

chromosome String
stain String
name String
start int
end int

repeat

List<Repeat>

id String
chromosome String
start int
end int
period int
consensusSize int
copyNumber float
percentageMatch float
score float
sequence String
source String

drugs

List<Drug>

therapeuticContext String
pathway String
effect String
association String
status String
evidence String
bibliography List<String>

additionalAttributes

Map<String, AdditionalAttribute>

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