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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: 10-87060785-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=87060785&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GLUD1",
"hgnc_id": 4335,
"hgvs_c": "c.1100A>G",
"hgvs_p": "p.Tyr367Cys",
"inheritance_mode": "AD",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_005271.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 7,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.1418,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.07,
"chr": "10",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Hyperinsulinism-hyperammonemia syndrome,Inborn genetic diseases",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.7596432566642761,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 558,
"aa_ref": "Y",
"aa_start": 367,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3300,
"cdna_start": 1174,
"cds_end": null,
"cds_length": 1677,
"cds_start": 1100,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_005271.5",
"gene_hgnc_id": 4335,
"gene_symbol": "GLUD1",
"hgvs_c": "c.1100A>G",
"hgvs_p": "p.Tyr367Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000277865.5",
"protein_coding": true,
"protein_id": "NP_005262.1",
"strand": false,
"transcript": "NM_005271.5",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 558,
"aa_ref": "Y",
"aa_start": 367,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3300,
"cdna_start": 1174,
"cds_end": null,
"cds_length": 1677,
"cds_start": 1100,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000277865.5",
"gene_hgnc_id": 4335,
"gene_symbol": "GLUD1",
"hgvs_c": "c.1100A>G",
"hgvs_p": "p.Tyr367Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005271.5",
"protein_coding": true,
"protein_id": "ENSP00000277865.4",
"strand": false,
"transcript": "ENST00000277865.5",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 574,
"aa_ref": "Y",
"aa_start": 383,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3062,
"cdna_start": 1220,
"cds_end": null,
"cds_length": 1725,
"cds_start": 1148,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000915201.1",
"gene_hgnc_id": 4335,
"gene_symbol": "GLUD1",
"hgvs_c": "c.1148A>G",
"hgvs_p": "p.Tyr383Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585260.1",
"strand": false,
"transcript": "ENST00000915201.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 571,
"aa_ref": "Y",
"aa_start": 380,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3223,
"cdna_start": 1378,
"cds_end": null,
"cds_length": 1716,
"cds_start": 1139,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000898383.1",
"gene_hgnc_id": 4335,
"gene_symbol": "GLUD1",
"hgvs_c": "c.1139A>G",
"hgvs_p": "p.Tyr380Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568442.1",
"strand": false,
"transcript": "ENST00000898383.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 549,
"aa_ref": "Y",
"aa_start": 358,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3020,
"cdna_start": 1178,
"cds_end": null,
"cds_length": 1650,
"cds_start": 1073,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000944406.1",
"gene_hgnc_id": 4335,
"gene_symbol": "GLUD1",
"hgvs_c": "c.1073A>G",
"hgvs_p": "p.Tyr358Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614465.1",
"strand": false,
"transcript": "ENST00000944406.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 548,
"aa_ref": "Y",
"aa_start": 357,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2989,
"cdna_start": 1144,
"cds_end": null,
"cds_length": 1647,
"cds_start": 1070,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000898388.1",
"gene_hgnc_id": 4335,
"gene_symbol": "GLUD1",
"hgvs_c": "c.1070A>G",
"hgvs_p": "p.Tyr357Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568447.1",
"strand": false,
"transcript": "ENST00000898388.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 537,
"aa_ref": "Y",
"aa_start": 367,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3163,
"cdna_start": 1380,
"cds_end": null,
"cds_length": 1614,
"cds_start": 1100,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000898382.1",
"gene_hgnc_id": 4335,
"gene_symbol": "GLUD1",
"hgvs_c": "c.1100A>G",
"hgvs_p": "p.Tyr367Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568441.1",
"strand": false,
"transcript": "ENST00000898382.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 532,
"aa_ref": "Y",
"aa_start": 367,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2979,
"cdna_start": 1100,
"cds_end": null,
"cds_length": 1599,
"cds_start": 1100,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000684338.1",
"gene_hgnc_id": 4335,
"gene_symbol": "GLUD1",
"hgvs_c": "c.1100A>G",
"hgvs_p": "p.Tyr367Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507457.1",
"strand": false,
"transcript": "ENST00000684338.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 531,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3000,
"cdna_start": 1158,
"cds_end": null,
"cds_length": 1596,
"cds_start": 1019,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000898387.1",
"gene_hgnc_id": 4335,
"gene_symbol": "GLUD1",
"hgvs_c": "c.1019A>G",
"hgvs_p": "p.Tyr340Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568446.1",
"strand": false,
"transcript": "ENST00000898387.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 518,
"aa_ref": "Y",
"aa_start": 327,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2945,
"cdna_start": 1103,
"cds_end": null,
"cds_length": 1557,
"cds_start": 980,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000915200.1",
"gene_hgnc_id": 4335,
"gene_symbol": "GLUD1",
"hgvs_c": "c.980A>G",
"hgvs_p": "p.Tyr327Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585259.1",
"strand": false,
"transcript": "ENST00000915200.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 512,
"aa_ref": "Y",
"aa_start": 321,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3005,
"cdna_start": 1160,
"cds_end": null,
"cds_length": 1539,
"cds_start": 962,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000898385.1",
"gene_hgnc_id": 4335,
"gene_symbol": "GLUD1",
"hgvs_c": "c.962A>G",
"hgvs_p": "p.Tyr321Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568444.1",
"strand": false,
"transcript": "ENST00000898385.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 498,
"aa_ref": "Y",
"aa_start": 307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2948,
"cdna_start": 1106,
"cds_end": null,
"cds_length": 1497,
"cds_start": 920,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000898386.1",
"gene_hgnc_id": 4335,
"gene_symbol": "GLUD1",
"hgvs_c": "c.920A>G",
"hgvs_p": "p.Tyr307Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568445.1",
"strand": false,
"transcript": "ENST00000898386.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 491,
"aa_ref": "Y",
"aa_start": 300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2974,
"cdna_start": 1128,
"cds_end": null,
"cds_length": 1476,
"cds_start": 899,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000898384.1",
"gene_hgnc_id": 4335,
"gene_symbol": "GLUD1",
"hgvs_c": "c.899A>G",
"hgvs_p": "p.Tyr300Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568443.1",
"strand": false,
"transcript": "ENST00000898384.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 488,
"aa_ref": "Y",
"aa_start": 297,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2802,
"cdna_start": 964,
"cds_end": null,
"cds_length": 1467,
"cds_start": 890,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000898390.1",
"gene_hgnc_id": 4335,
"gene_symbol": "GLUD1",
"hgvs_c": "c.890A>G",
"hgvs_p": "p.Tyr297Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568449.1",
"strand": false,
"transcript": "ENST00000898390.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 425,
"aa_ref": "Y",
"aa_start": 234,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2936,
"cdna_start": 810,
"cds_end": null,
"cds_length": 1278,
"cds_start": 701,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001318900.1",
"gene_hgnc_id": 4335,
"gene_symbol": "GLUD1",
"hgvs_c": "c.701A>G",
"hgvs_p": "p.Tyr234Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305829.1",
"strand": false,
"transcript": "NM_001318900.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 391,
"aa_ref": "Y",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3289,
"cdna_start": 1163,
"cds_end": null,
"cds_length": 1176,
"cds_start": 599,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001318901.1",
"gene_hgnc_id": 4335,
"gene_symbol": "GLUD1",
"hgvs_c": "c.599A>G",
"hgvs_p": "p.Tyr200Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305830.1",
"strand": false,
"transcript": "NM_001318901.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 391,
"aa_ref": "Y",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3216,
"cdna_start": 1090,
"cds_end": null,
"cds_length": 1176,
"cds_start": 599,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001318902.1",
"gene_hgnc_id": 4335,
"gene_symbol": "GLUD1",
"hgvs_c": "c.599A>G",
"hgvs_p": "p.Tyr200Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305831.1",
"strand": false,
"transcript": "NM_001318902.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 391,
"aa_ref": "Y",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3527,
"cdna_start": 1401,
"cds_end": null,
"cds_length": 1176,
"cds_start": 599,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001318904.2",
"gene_hgnc_id": 4335,
"gene_symbol": "GLUD1",
"hgvs_c": "c.599A>G",
"hgvs_p": "p.Tyr200Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305833.1",
"strand": false,
"transcript": "NM_001318904.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 391,
"aa_ref": "Y",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3653,
"cdna_start": 1527,
"cds_end": null,
"cds_length": 1176,
"cds_start": 599,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001318905.2",
"gene_hgnc_id": 4335,
"gene_symbol": "GLUD1",
"hgvs_c": "c.599A>G",
"hgvs_p": "p.Tyr200Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305834.1",
"strand": false,
"transcript": "NM_001318905.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 391,
"aa_ref": "Y",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3360,
"cdna_start": 1234,
"cds_end": null,
"cds_length": 1176,
"cds_start": 599,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001318906.2",
"gene_hgnc_id": 4335,
"gene_symbol": "GLUD1",
"hgvs_c": "c.599A>G",
"hgvs_p": "p.Tyr200Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305835.1",
"strand": false,
"transcript": "NM_001318906.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 391,
"aa_ref": "Y",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2777,
"cdna_start": 1060,
"cds_end": null,
"cds_length": 1176,
"cds_start": 599,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000681988.1",
"gene_hgnc_id": 4335,
"gene_symbol": "GLUD1",
"hgvs_c": "c.599A>G",
"hgvs_p": "p.Tyr200Cys",
"intron_rank": null,
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