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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 13-20189031-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=20189031&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 20189031,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_004004.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GJB2",
"gene_hgnc_id": 4284,
"hgvs_c": "c.551G>A",
"hgvs_p": "p.Arg184Gln",
"transcript": "NM_004004.6",
"protein_id": "NP_003995.2",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 226,
"cds_start": 551,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000382848.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004004.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GJB2",
"gene_hgnc_id": 4284,
"hgvs_c": "c.551G>A",
"hgvs_p": "p.Arg184Gln",
"transcript": "ENST00000382848.5",
"protein_id": "ENSP00000372299.4",
"transcript_support_level": 1,
"aa_start": 184,
"aa_end": null,
"aa_length": 226,
"cds_start": 551,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004004.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382848.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GJB2",
"gene_hgnc_id": 4284,
"hgvs_c": "c.551G>A",
"hgvs_p": "p.Arg184Gln",
"transcript": "ENST00000382844.2",
"protein_id": "ENSP00000372295.1",
"transcript_support_level": 6,
"aa_start": 184,
"aa_end": null,
"aa_length": 226,
"cds_start": 551,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382844.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GJB2",
"gene_hgnc_id": 4284,
"hgvs_c": "c.551G>A",
"hgvs_p": "p.Arg184Gln",
"transcript": "ENST00000906230.1",
"protein_id": "ENSP00000576289.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 226,
"cds_start": 551,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906230.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GJB2",
"gene_hgnc_id": 4284,
"hgvs_c": "c.551G>A",
"hgvs_p": "p.Arg184Gln",
"transcript": "ENST00000906231.1",
"protein_id": "ENSP00000576290.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 226,
"cds_start": 551,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906231.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GJB2",
"gene_hgnc_id": 4284,
"hgvs_c": "c.551G>A",
"hgvs_p": "p.Arg184Gln",
"transcript": "ENST00000906232.1",
"protein_id": "ENSP00000576291.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 226,
"cds_start": 551,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906232.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GJB2",
"gene_hgnc_id": 4284,
"hgvs_c": "c.551G>A",
"hgvs_p": "p.Arg184Gln",
"transcript": "ENST00000906233.1",
"protein_id": "ENSP00000576292.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 226,
"cds_start": 551,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906233.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GJB2",
"gene_hgnc_id": 4284,
"hgvs_c": "c.551G>A",
"hgvs_p": "p.Arg184Gln",
"transcript": "ENST00000906234.1",
"protein_id": "ENSP00000576293.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 226,
"cds_start": 551,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906234.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GJB2",
"gene_hgnc_id": 4284,
"hgvs_c": "c.551G>A",
"hgvs_p": "p.Arg184Gln",
"transcript": "ENST00000906235.1",
"protein_id": "ENSP00000576294.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 226,
"cds_start": 551,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906235.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GJB2",
"gene_hgnc_id": 4284,
"hgvs_c": "c.551G>A",
"hgvs_p": "p.Arg184Gln",
"transcript": "ENST00000906236.1",
"protein_id": "ENSP00000576295.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 226,
"cds_start": 551,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906236.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GJB2",
"gene_hgnc_id": 4284,
"hgvs_c": "c.551G>A",
"hgvs_p": "p.Arg184Gln",
"transcript": "ENST00000957350.1",
"protein_id": "ENSP00000627409.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 226,
"cds_start": 551,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957350.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GJB2",
"gene_hgnc_id": 4284,
"hgvs_c": "c.551G>A",
"hgvs_p": "p.Arg184Gln",
"transcript": "XM_011535049.3",
"protein_id": "XP_011533351.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 226,
"cds_start": 551,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535049.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000296095",
"gene_hgnc_id": null,
"hgvs_c": "n.232-3451G>A",
"hgvs_p": null,
"transcript": "ENST00000736390.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000736390.1"
}
],
"gene_symbol": "GJB2",
"gene_hgnc_id": 4284,
"dbsnp": "rs80338950",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9880883693695068,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.937,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.7746,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.56,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.858,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 19,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP2,PP3_Strong,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 19,
"benign_score": 0,
"pathogenic_score": 19,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP2",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_004004.6",
"gene_symbol": "GJB2",
"hgnc_id": 4284,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.551G>A",
"hgvs_p": "p.Arg184Gln"
},
{
"score": 14,
"benign_score": 0,
"pathogenic_score": 14,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000736390.1",
"gene_symbol": "ENSG00000296095",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.232-3451G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Autosomal dominant nonsyndromic hearing loss 3A,Autosomal recessive nonsyndromic hearing loss 1A,Hearing impairment,Hearing loss,Nonsyndromic genetic hearing loss,Rare genetic deafness,not provided,not specified",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:13 LP:1 O:1",
"phenotype_combined": "Autosomal dominant nonsyndromic hearing loss 3A|Hearing impairment|not provided|Rare genetic deafness|not specified|Nonsyndromic genetic hearing loss|Hearing loss|Autosomal recessive nonsyndromic hearing loss 1A",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}