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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: 10-116270903-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=116270903&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 14,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GFRA1",
"hgnc_id": 4243,
"hgvs_c": "c.253T>A",
"hgvs_p": "p.Tyr85Asn",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -14,
"transcript": "NM_005264.8",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS1,BS2",
"acmg_score": -14,
"allele_count_reference_population": 48917,
"alphamissense_prediction": null,
"alphamissense_score": 0.3588,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.23,
"chr": "10",
"clinvar_classification": "Benign",
"clinvar_disease": "GFRA1-related disorder,not provided,not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.008683264255523682,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 465,
"aa_ref": "Y",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9161,
"cdna_start": 543,
"cds_end": null,
"cds_length": 1398,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_005264.8",
"gene_hgnc_id": 4243,
"gene_symbol": "GFRA1",
"hgvs_c": "c.253T>A",
"hgvs_p": "p.Tyr85Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000355422.11",
"protein_coding": true,
"protein_id": "NP_005255.1",
"strand": false,
"transcript": "NM_005264.8",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 465,
"aa_ref": "Y",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9161,
"cdna_start": 543,
"cds_end": null,
"cds_length": 1398,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000355422.11",
"gene_hgnc_id": 4243,
"gene_symbol": "GFRA1",
"hgvs_c": "c.253T>A",
"hgvs_p": "p.Tyr85Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005264.8",
"protein_coding": true,
"protein_id": "ENSP00000347591.6",
"strand": false,
"transcript": "ENST00000355422.11",
"transcript_support_level": 5
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 460,
"aa_ref": "Y",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9109,
"cdna_start": 506,
"cds_end": null,
"cds_length": 1383,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000369236.5",
"gene_hgnc_id": 4243,
"gene_symbol": "GFRA1",
"hgvs_c": "c.253T>A",
"hgvs_p": "p.Tyr85Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000358239.1",
"strand": false,
"transcript": "ENST00000369236.5",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 465,
"aa_ref": "Y",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9211,
"cdna_start": 593,
"cds_end": null,
"cds_length": 1398,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001348098.4",
"gene_hgnc_id": 4243,
"gene_symbol": "GFRA1",
"hgvs_c": "c.253T>A",
"hgvs_p": "p.Tyr85Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001335027.1",
"strand": false,
"transcript": "NM_001348098.4",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 465,
"aa_ref": "Y",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1810,
"cdna_start": 665,
"cds_end": null,
"cds_length": 1398,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000369234.5",
"gene_hgnc_id": 4243,
"gene_symbol": "GFRA1",
"hgvs_c": "c.253T>A",
"hgvs_p": "p.Tyr85Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000358237.4",
"strand": false,
"transcript": "ENST00000369234.5",
"transcript_support_level": 5
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 465,
"aa_ref": "Y",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1781,
"cdna_start": 606,
"cds_end": null,
"cds_length": 1398,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000952622.1",
"gene_hgnc_id": 4243,
"gene_symbol": "GFRA1",
"hgvs_c": "c.253T>A",
"hgvs_p": "p.Tyr85Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622681.1",
"strand": false,
"transcript": "ENST00000952622.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 465,
"aa_ref": "Y",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1851,
"cdna_start": 670,
"cds_end": null,
"cds_length": 1398,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000952623.1",
"gene_hgnc_id": 4243,
"gene_symbol": "GFRA1",
"hgvs_c": "c.253T>A",
"hgvs_p": "p.Tyr85Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622682.1",
"strand": false,
"transcript": "ENST00000952623.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 460,
"aa_ref": "Y",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9555,
"cdna_start": 952,
"cds_end": null,
"cds_length": 1383,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001145453.4",
"gene_hgnc_id": 4243,
"gene_symbol": "GFRA1",
"hgvs_c": "c.253T>A",
"hgvs_p": "p.Tyr85Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001138925.1",
"strand": false,
"transcript": "NM_001145453.4",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 460,
"aa_ref": "Y",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9244,
"cdna_start": 641,
"cds_end": null,
"cds_length": 1383,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001348096.3",
"gene_hgnc_id": 4243,
"gene_symbol": "GFRA1",
"hgvs_c": "c.253T>A",
"hgvs_p": "p.Tyr85Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001335025.1",
"strand": false,
"transcript": "NM_001348096.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 460,
"aa_ref": "Y",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9263,
"cdna_start": 660,
"cds_end": null,
"cds_length": 1383,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001382556.2",
"gene_hgnc_id": 4243,
"gene_symbol": "GFRA1",
"hgvs_c": "c.253T>A",
"hgvs_p": "p.Tyr85Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369485.1",
"strand": false,
"transcript": "NM_001382556.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 460,
"aa_ref": "Y",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9141,
"cdna_start": 538,
"cds_end": null,
"cds_length": 1383,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001382557.2",
"gene_hgnc_id": 4243,
"gene_symbol": "GFRA1",
"hgvs_c": "c.253T>A",
"hgvs_p": "p.Tyr85Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369486.1",
"strand": false,
"transcript": "NM_001382557.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 460,
"aa_ref": "Y",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9196,
"cdna_start": 593,
"cds_end": null,
"cds_length": 1383,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001382558.2",
"gene_hgnc_id": 4243,
"gene_symbol": "GFRA1",
"hgvs_c": "c.253T>A",
"hgvs_p": "p.Tyr85Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369487.1",
"strand": false,
"transcript": "NM_001382558.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 460,
"aa_ref": "Y",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9175,
"cdna_start": 572,
"cds_end": null,
"cds_length": 1383,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001382559.2",
"gene_hgnc_id": 4243,
"gene_symbol": "GFRA1",
"hgvs_c": "c.253T>A",
"hgvs_p": "p.Tyr85Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369488.1",
"strand": false,
"transcript": "NM_001382559.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 460,
"aa_ref": "Y",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9052,
"cdna_start": 449,
"cds_end": null,
"cds_length": 1383,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_145793.7",
"gene_hgnc_id": 4243,
"gene_symbol": "GFRA1",
"hgvs_c": "c.253T>A",
"hgvs_p": "p.Tyr85Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_665736.1",
"strand": false,
"transcript": "NM_145793.7",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 460,
"aa_ref": "Y",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4887,
"cdna_start": 641,
"cds_end": null,
"cds_length": 1383,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000439649.8",
"gene_hgnc_id": 4243,
"gene_symbol": "GFRA1",
"hgvs_c": "c.253T>A",
"hgvs_p": "p.Tyr85Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000393725.3",
"strand": false,
"transcript": "ENST00000439649.8",
"transcript_support_level": 2
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 460,
"aa_ref": "Y",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2562,
"cdna_start": 945,
"cds_end": null,
"cds_length": 1383,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000682743.1",
"gene_hgnc_id": 4243,
"gene_symbol": "GFRA1",
"hgvs_c": "c.253T>A",
"hgvs_p": "p.Tyr85Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507970.1",
"strand": false,
"transcript": "ENST00000682743.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 460,
"aa_ref": "Y",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1755,
"cdna_start": 582,
"cds_end": null,
"cds_length": 1383,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000684105.1",
"gene_hgnc_id": 4243,
"gene_symbol": "GFRA1",
"hgvs_c": "c.253T>A",
"hgvs_p": "p.Tyr85Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506818.1",
"strand": false,
"transcript": "ENST00000684105.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
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"aa_length": 460,
"aa_ref": "Y",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2468,
"cdna_start": 691,
"cds_end": null,
"cds_length": 1383,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000861432.1",
"gene_hgnc_id": 4243,
"gene_symbol": "GFRA1",
"hgvs_c": "c.253T>A",
"hgvs_p": "p.Tyr85Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531491.1",
"strand": false,
"transcript": "ENST00000861432.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 460,
"aa_ref": "Y",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2630,
"cdna_start": 610,
"cds_end": null,
"cds_length": 1383,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000861433.1",
"gene_hgnc_id": 4243,
"gene_symbol": "GFRA1",
"hgvs_c": "c.253T>A",
"hgvs_p": "p.Tyr85Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531492.1",
"strand": false,
"transcript": "ENST00000861433.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 460,
"aa_ref": "Y",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1863,
"cdna_start": 703,
"cds_end": null,
"cds_length": 1383,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000861434.1",
"gene_hgnc_id": 4243,
"gene_symbol": "GFRA1",
"hgvs_c": "c.253T>A",
"hgvs_p": "p.Tyr85Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531493.1",
"strand": false,
"transcript": "ENST00000861434.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 460,
"aa_ref": "Y",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1903,
"cdna_start": 743,
"cds_end": null,
"cds_length": 1383,
"cds_start": 253,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000861435.1",
"gene_hgnc_id": 4243,
"gene_symbol": "GFRA1",
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