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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: 8-11758419-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=11758419&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 13,
"criteria": [
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GATA4",
"hgnc_id": 4173,
"hgvs_c": "c.1276G>A",
"hgvs_p": "p.Asp426Asn",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -13,
"transcript": "NM_001308093.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1,BS2",
"acmg_score": -13,
"allele_count_reference_population": 1553,
"alphamissense_prediction": null,
"alphamissense_score": 0.194,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.02,
"chr": "8",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Atrial septal defect 2,Atrioventricular septal defect 4,Congenital heart disease,GATA4-related disorder,Inborn genetic diseases,Pulmonary valve atresia,Pulmonic stenosis,Testicular anomalies with or without congenital heart disease,Tetralogy of Fallot,Tricuspid regurgitation,Ventricular septal defect 1,not provided,not specified",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:2 B:4",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.00697559118270874,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 443,
"aa_ref": "D",
"aa_start": 426,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3419,
"cdna_start": 1836,
"cds_end": null,
"cds_length": 1332,
"cds_start": 1276,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001308093.3",
"gene_hgnc_id": 4173,
"gene_symbol": "GATA4",
"hgvs_c": "c.1276G>A",
"hgvs_p": "p.Asp426Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000532059.6",
"protein_coding": true,
"protein_id": "NP_001295022.1",
"strand": true,
"transcript": "NM_001308093.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 443,
"aa_ref": "D",
"aa_start": 426,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3419,
"cdna_start": 1836,
"cds_end": null,
"cds_length": 1332,
"cds_start": 1276,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000532059.6",
"gene_hgnc_id": 4173,
"gene_symbol": "GATA4",
"hgvs_c": "c.1276G>A",
"hgvs_p": "p.Asp426Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001308093.3",
"protein_coding": true,
"protein_id": "ENSP00000435712.1",
"strand": true,
"transcript": "ENST00000532059.6",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 449,
"aa_ref": "D",
"aa_start": 432,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3434,
"cdna_start": 1855,
"cds_end": null,
"cds_length": 1350,
"cds_start": 1294,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000886854.1",
"gene_hgnc_id": 4173,
"gene_symbol": "GATA4",
"hgvs_c": "c.1294G>A",
"hgvs_p": "p.Asp432Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556913.1",
"strand": true,
"transcript": "ENST00000886854.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 443,
"aa_ref": "D",
"aa_start": 426,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3716,
"cdna_start": 2133,
"cds_end": null,
"cds_length": 1332,
"cds_start": 1276,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000886846.1",
"gene_hgnc_id": 4173,
"gene_symbol": "GATA4",
"hgvs_c": "c.1276G>A",
"hgvs_p": "p.Asp426Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556905.1",
"strand": true,
"transcript": "ENST00000886846.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 443,
"aa_ref": "D",
"aa_start": 426,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3809,
"cdna_start": 2229,
"cds_end": null,
"cds_length": 1332,
"cds_start": 1276,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000886848.1",
"gene_hgnc_id": 4173,
"gene_symbol": "GATA4",
"hgvs_c": "c.1276G>A",
"hgvs_p": "p.Asp426Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556907.1",
"strand": true,
"transcript": "ENST00000886848.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 443,
"aa_ref": "D",
"aa_start": 426,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3553,
"cdna_start": 1971,
"cds_end": null,
"cds_length": 1332,
"cds_start": 1276,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000886851.1",
"gene_hgnc_id": 4173,
"gene_symbol": "GATA4",
"hgvs_c": "c.1276G>A",
"hgvs_p": "p.Asp426Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556910.1",
"strand": true,
"transcript": "ENST00000886851.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 443,
"aa_ref": "D",
"aa_start": 426,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3650,
"cdna_start": 2068,
"cds_end": null,
"cds_length": 1332,
"cds_start": 1276,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000886852.1",
"gene_hgnc_id": 4173,
"gene_symbol": "GATA4",
"hgvs_c": "c.1276G>A",
"hgvs_p": "p.Asp426Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556911.1",
"strand": true,
"transcript": "ENST00000886852.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 443,
"aa_ref": "D",
"aa_start": 426,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3539,
"cdna_start": 1956,
"cds_end": null,
"cds_length": 1332,
"cds_start": 1276,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000886853.1",
"gene_hgnc_id": 4173,
"gene_symbol": "GATA4",
"hgvs_c": "c.1276G>A",
"hgvs_p": "p.Asp426Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556912.1",
"strand": true,
"transcript": "ENST00000886853.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 443,
"aa_ref": "D",
"aa_start": 426,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3521,
"cdna_start": 1941,
"cds_end": null,
"cds_length": 1332,
"cds_start": 1276,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000952124.1",
"gene_hgnc_id": 4173,
"gene_symbol": "GATA4",
"hgvs_c": "c.1276G>A",
"hgvs_p": "p.Asp426Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622183.1",
"strand": true,
"transcript": "ENST00000952124.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 443,
"aa_ref": "D",
"aa_start": 426,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3674,
"cdna_start": 2093,
"cds_end": null,
"cds_length": 1332,
"cds_start": 1276,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000952125.1",
"gene_hgnc_id": 4173,
"gene_symbol": "GATA4",
"hgvs_c": "c.1276G>A",
"hgvs_p": "p.Asp426Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622184.1",
"strand": true,
"transcript": "ENST00000952125.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 443,
"aa_ref": "D",
"aa_start": 426,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4720,
"cdna_start": 3138,
"cds_end": null,
"cds_length": 1332,
"cds_start": 1276,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000952126.1",
"gene_hgnc_id": 4173,
"gene_symbol": "GATA4",
"hgvs_c": "c.1276G>A",
"hgvs_p": "p.Asp426Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622185.1",
"strand": true,
"transcript": "ENST00000952126.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 443,
"aa_ref": "D",
"aa_start": 426,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3375,
"cdna_start": 1793,
"cds_end": null,
"cds_length": 1332,
"cds_start": 1276,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000952127.1",
"gene_hgnc_id": 4173,
"gene_symbol": "GATA4",
"hgvs_c": "c.1276G>A",
"hgvs_p": "p.Asp426Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622186.1",
"strand": true,
"transcript": "ENST00000952127.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 442,
"aa_ref": "D",
"aa_start": 425,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3416,
"cdna_start": 1833,
"cds_end": null,
"cds_length": 1329,
"cds_start": 1273,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_002052.5",
"gene_hgnc_id": 4173,
"gene_symbol": "GATA4",
"hgvs_c": "c.1273G>A",
"hgvs_p": "p.Asp425Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_002043.2",
"strand": true,
"transcript": "NM_002052.5",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 442,
"aa_ref": "D",
"aa_start": 425,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3414,
"cdna_start": 1831,
"cds_end": null,
"cds_length": 1329,
"cds_start": 1273,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000335135.8",
"gene_hgnc_id": 4173,
"gene_symbol": "GATA4",
"hgvs_c": "c.1273G>A",
"hgvs_p": "p.Asp425Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000334458.4",
"strand": true,
"transcript": "ENST00000335135.8",
"transcript_support_level": 5
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 442,
"aa_ref": "D",
"aa_start": 425,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3508,
"cdna_start": 1933,
"cds_end": null,
"cds_length": 1329,
"cds_start": 1273,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000622443.3",
"gene_hgnc_id": 4173,
"gene_symbol": "GATA4",
"hgvs_c": "c.1273G>A",
"hgvs_p": "p.Asp425Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000482268.2",
"strand": true,
"transcript": "ENST00000622443.3",
"transcript_support_level": 5
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 442,
"aa_ref": "D",
"aa_start": 425,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3863,
"cdna_start": 2280,
"cds_end": null,
"cds_length": 1329,
"cds_start": 1273,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000886845.1",
"gene_hgnc_id": 4173,
"gene_symbol": "GATA4",
"hgvs_c": "c.1273G>A",
"hgvs_p": "p.Asp425Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556904.1",
"strand": true,
"transcript": "ENST00000886845.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 442,
"aa_ref": "D",
"aa_start": 425,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3441,
"cdna_start": 1859,
"cds_end": null,
"cds_length": 1329,
"cds_start": 1273,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000886847.1",
"gene_hgnc_id": 4173,
"gene_symbol": "GATA4",
"hgvs_c": "c.1273G>A",
"hgvs_p": "p.Asp425Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556906.1",
"strand": true,
"transcript": "ENST00000886847.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 442,
"aa_ref": "D",
"aa_start": 425,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3974,
"cdna_start": 2393,
"cds_end": null,
"cds_length": 1329,
"cds_start": 1273,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000886849.1",
"gene_hgnc_id": 4173,
"gene_symbol": "GATA4",
"hgvs_c": "c.1273G>A",
"hgvs_p": "p.Asp425Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556908.1",
"strand": true,
"transcript": "ENST00000886849.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 442,
"aa_ref": "D",
"aa_start": 425,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3554,
"cdna_start": 1975,
"cds_end": null,
"cds_length": 1329,
"cds_start": 1273,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000886850.1",
"gene_hgnc_id": 4173,
"gene_symbol": "GATA4",
"hgvs_c": "c.1273G>A",
"hgvs_p": "p.Asp425Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556909.1",
"strand": true,
"transcript": "ENST00000886850.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 442,
"aa_ref": "D",
"aa_start": 425,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3483,
"cdna_start": 1904,
"cds_end": null,
"cds_length": 1329,
"cds_start": 1273,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000886855.1",
"gene_hgnc_id": 4173,
"gene_symbol": "GATA4",
"hgvs_c": "c.1273G>A",
"hgvs_p": "p.Asp425Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556914.1",
"strand": true,
"transcript": "ENST00000886855.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 442,
"aa_ref": "D",
"aa_start": 425,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3852,
"cdna_start": 2270,
"cds_end": null,
"cds_length": 1329,
"cds_start": 1273,
"consequences": [
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}