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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: 11-47166512-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=47166512&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ARFGAP2",
"hgnc_id": 13504,
"hgvs_c": "c.1462G>C",
"hgvs_p": "p.Gly488Arg",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001410995.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.1276,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.43,
"chr": "11",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.19583004713058472,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 521,
"aa_ref": "G",
"aa_start": 474,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2773,
"cdna_start": 1446,
"cds_end": null,
"cds_length": 1566,
"cds_start": 1420,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_032389.6",
"gene_hgnc_id": 13504,
"gene_symbol": "ARFGAP2",
"hgvs_c": "c.1420G>C",
"hgvs_p": "p.Gly474Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000524782.6",
"protein_coding": true,
"protein_id": "NP_115765.2",
"strand": false,
"transcript": "NM_032389.6",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 521,
"aa_ref": "G",
"aa_start": 474,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2773,
"cdna_start": 1446,
"cds_end": null,
"cds_length": 1566,
"cds_start": 1420,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000524782.6",
"gene_hgnc_id": 13504,
"gene_symbol": "ARFGAP2",
"hgvs_c": "c.1420G>C",
"hgvs_p": "p.Gly474Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_032389.6",
"protein_coding": true,
"protein_id": "ENSP00000434442.1",
"strand": false,
"transcript": "ENST00000524782.6",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 560,
"aa_ref": "G",
"aa_start": 513,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3485,
"cdna_start": 2158,
"cds_end": null,
"cds_length": 1683,
"cds_start": 1537,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000892878.1",
"gene_hgnc_id": 13504,
"gene_symbol": "ARFGAP2",
"hgvs_c": "c.1537G>C",
"hgvs_p": "p.Gly513Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562937.1",
"strand": false,
"transcript": "ENST00000892878.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 550,
"aa_ref": "G",
"aa_start": 503,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2837,
"cdna_start": 1512,
"cds_end": null,
"cds_length": 1653,
"cds_start": 1507,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000946556.1",
"gene_hgnc_id": 13504,
"gene_symbol": "ARFGAP2",
"hgvs_c": "c.1507G>C",
"hgvs_p": "p.Gly503Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616615.1",
"strand": false,
"transcript": "ENST00000946556.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 549,
"aa_ref": "G",
"aa_start": 502,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3442,
"cdna_start": 2115,
"cds_end": null,
"cds_length": 1650,
"cds_start": 1504,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000892879.1",
"gene_hgnc_id": 13504,
"gene_symbol": "ARFGAP2",
"hgvs_c": "c.1504G>C",
"hgvs_p": "p.Gly502Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562938.1",
"strand": false,
"transcript": "ENST00000892879.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 536,
"aa_ref": "G",
"aa_start": 489,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2813,
"cdna_start": 1489,
"cds_end": null,
"cds_length": 1611,
"cds_start": 1465,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000892889.1",
"gene_hgnc_id": 13504,
"gene_symbol": "ARFGAP2",
"hgvs_c": "c.1465G>C",
"hgvs_p": "p.Gly489Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562948.1",
"strand": false,
"transcript": "ENST00000892889.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 535,
"aa_ref": "G",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2815,
"cdna_start": 1488,
"cds_end": null,
"cds_length": 1608,
"cds_start": 1462,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001410995.1",
"gene_hgnc_id": 13504,
"gene_symbol": "ARFGAP2",
"hgvs_c": "c.1462G>C",
"hgvs_p": "p.Gly488Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397924.1",
"strand": false,
"transcript": "NM_001410995.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 535,
"aa_ref": "G",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2747,
"cdna_start": 1491,
"cds_end": null,
"cds_length": 1608,
"cds_start": 1462,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000525314.6",
"gene_hgnc_id": 13504,
"gene_symbol": "ARFGAP2",
"hgvs_c": "c.1462G>C",
"hgvs_p": "p.Gly488Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000434809.2",
"strand": false,
"transcript": "ENST00000525314.6",
"transcript_support_level": 3
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 519,
"aa_ref": "G",
"aa_start": 472,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2767,
"cdna_start": 1440,
"cds_end": null,
"cds_length": 1560,
"cds_start": 1414,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000924865.1",
"gene_hgnc_id": 13504,
"gene_symbol": "ARFGAP2",
"hgvs_c": "c.1414G>C",
"hgvs_p": "p.Gly472Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594924.1",
"strand": false,
"transcript": "ENST00000924865.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 517,
"aa_ref": "G",
"aa_start": 470,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2761,
"cdna_start": 1434,
"cds_end": null,
"cds_length": 1554,
"cds_start": 1408,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000892884.1",
"gene_hgnc_id": 13504,
"gene_symbol": "ARFGAP2",
"hgvs_c": "c.1408G>C",
"hgvs_p": "p.Gly470Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562943.1",
"strand": false,
"transcript": "ENST00000892884.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 516,
"aa_ref": "G",
"aa_start": 469,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2758,
"cdna_start": 1431,
"cds_end": null,
"cds_length": 1551,
"cds_start": 1405,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000892885.1",
"gene_hgnc_id": 13504,
"gene_symbol": "ARFGAP2",
"hgvs_c": "c.1405G>C",
"hgvs_p": "p.Gly469Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562944.1",
"strand": false,
"transcript": "ENST00000892885.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 516,
"aa_ref": "G",
"aa_start": 469,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2740,
"cdna_start": 1431,
"cds_end": null,
"cds_length": 1551,
"cds_start": 1405,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000946554.1",
"gene_hgnc_id": 13504,
"gene_symbol": "ARFGAP2",
"hgvs_c": "c.1405G>C",
"hgvs_p": "p.Gly469Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616613.1",
"strand": false,
"transcript": "ENST00000946554.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 512,
"aa_ref": "G",
"aa_start": 465,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2729,
"cdna_start": 1407,
"cds_end": null,
"cds_length": 1539,
"cds_start": 1393,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000924867.1",
"gene_hgnc_id": 13504,
"gene_symbol": "ARFGAP2",
"hgvs_c": "c.1393G>C",
"hgvs_p": "p.Gly465Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594926.1",
"strand": false,
"transcript": "ENST00000924867.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 507,
"aa_ref": "G",
"aa_start": 460,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2735,
"cdna_start": 1408,
"cds_end": null,
"cds_length": 1524,
"cds_start": 1378,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000892881.1",
"gene_hgnc_id": 13504,
"gene_symbol": "ARFGAP2",
"hgvs_c": "c.1378G>C",
"hgvs_p": "p.Gly460Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562940.1",
"strand": false,
"transcript": "ENST00000892881.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 507,
"aa_ref": "G",
"aa_start": 460,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2731,
"cdna_start": 1404,
"cds_end": null,
"cds_length": 1524,
"cds_start": 1378,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000892883.1",
"gene_hgnc_id": 13504,
"gene_symbol": "ARFGAP2",
"hgvs_c": "c.1378G>C",
"hgvs_p": "p.Gly460Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562942.1",
"strand": false,
"transcript": "ENST00000892883.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 502,
"aa_ref": "G",
"aa_start": 455,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2716,
"cdna_start": 1389,
"cds_end": null,
"cds_length": 1509,
"cds_start": 1363,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000892882.1",
"gene_hgnc_id": 13504,
"gene_symbol": "ARFGAP2",
"hgvs_c": "c.1363G>C",
"hgvs_p": "p.Gly455Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562941.1",
"strand": false,
"transcript": "ENST00000892882.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 493,
"aa_ref": "G",
"aa_start": 446,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2689,
"cdna_start": 1362,
"cds_end": null,
"cds_length": 1482,
"cds_start": 1336,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001242832.2",
"gene_hgnc_id": 13504,
"gene_symbol": "ARFGAP2",
"hgvs_c": "c.1336G>C",
"hgvs_p": "p.Gly446Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001229761.1",
"strand": false,
"transcript": "NM_001242832.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 493,
"aa_ref": "G",
"aa_start": 446,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2937,
"cdna_start": 1608,
"cds_end": null,
"cds_length": 1482,
"cds_start": 1336,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000426335.6",
"gene_hgnc_id": 13504,
"gene_symbol": "ARFGAP2",
"hgvs_c": "c.1336G>C",
"hgvs_p": "p.Gly446Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000400226.3",
"strand": false,
"transcript": "ENST00000426335.6",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 492,
"aa_ref": "G",
"aa_start": 445,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2681,
"cdna_start": 1356,
"cds_end": null,
"cds_length": 1479,
"cds_start": 1333,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000946550.1",
"gene_hgnc_id": 13504,
"gene_symbol": "ARFGAP2",
"hgvs_c": "c.1333G>C",
"hgvs_p": "p.Gly445Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616609.1",
"strand": false,
"transcript": "ENST00000946550.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 486,
"aa_ref": "G",
"aa_start": 439,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2660,
"cdna_start": 1335,
"cds_end": null,
"cds_length": 1461,
"cds_start": 1315,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000946552.1",
"gene_hgnc_id": 13504,
"gene_symbol": "ARFGAP2",
"hgvs_c": "c.1315G>C",
"hgvs_p": "p.Gly439Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616611.1",
"strand": false,
"transcript": "ENST00000946552.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 478,
"aa_ref": "G",
"aa_start": 431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2642,
"cdna_start": 1315,
"cds_end": null,
"cds_length": 1437,
"cds_start": 1291,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000892887.1",
"gene_hgnc_id": 13504,
"gene_symbol": "ARFGAP2",
"hgvs_c": "c.1291G>C",
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