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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: 19-33387931-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=33387931&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PEPD",
"hgnc_id": 8840,
"hgvs_c": "c.1303C>T",
"hgvs_p": "p.Leu435Phe",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_000285.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_score": -20,
"allele_count_reference_population": 408882,
"alphamissense_prediction": null,
"alphamissense_score": 0.0997,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.27,
"chr": "19",
"clinvar_classification": "Benign",
"clinvar_disease": "Prolidase deficiency,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:5",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.00099220871925354,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 493,
"aa_ref": "L",
"aa_start": 435,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1907,
"cdna_start": 1334,
"cds_end": null,
"cds_length": 1482,
"cds_start": 1303,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_000285.4",
"gene_hgnc_id": 8840,
"gene_symbol": "PEPD",
"hgvs_c": "c.1303C>T",
"hgvs_p": "p.Leu435Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000244137.12",
"protein_coding": true,
"protein_id": "NP_000276.2",
"strand": false,
"transcript": "NM_000285.4",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 493,
"aa_ref": "L",
"aa_start": 435,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1907,
"cdna_start": 1334,
"cds_end": null,
"cds_length": 1482,
"cds_start": 1303,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000244137.12",
"gene_hgnc_id": 8840,
"gene_symbol": "PEPD",
"hgvs_c": "c.1303C>T",
"hgvs_p": "p.Leu435Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000285.4",
"protein_coding": true,
"protein_id": "ENSP00000244137.5",
"strand": false,
"transcript": "ENST00000244137.12",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 523,
"aa_ref": "L",
"aa_start": 435,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1839,
"cdna_start": 1334,
"cds_end": null,
"cds_length": 1572,
"cds_start": 1303,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000651901.2",
"gene_hgnc_id": 8840,
"gene_symbol": "PEPD",
"hgvs_c": "c.1303C>T",
"hgvs_p": "p.Leu435Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498922.2",
"strand": false,
"transcript": "ENST00000651901.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 515,
"aa_ref": "L",
"aa_start": 457,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1971,
"cdna_start": 1400,
"cds_end": null,
"cds_length": 1548,
"cds_start": 1369,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000588328.7",
"gene_hgnc_id": 8840,
"gene_symbol": "PEPD",
"hgvs_c": "c.1369C>T",
"hgvs_p": "p.Leu457Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000468516.4",
"strand": false,
"transcript": "ENST00000588328.7",
"transcript_support_level": 3
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 510,
"aa_ref": "L",
"aa_start": 452,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1949,
"cdna_start": 1391,
"cds_end": null,
"cds_length": 1533,
"cds_start": 1354,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000698360.1",
"gene_hgnc_id": 8840,
"gene_symbol": "PEPD",
"hgvs_c": "c.1354C>T",
"hgvs_p": "p.Leu452Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513683.1",
"strand": false,
"transcript": "ENST00000698360.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 507,
"aa_ref": "L",
"aa_start": 449,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2002,
"cdna_start": 1434,
"cds_end": null,
"cds_length": 1524,
"cds_start": 1345,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000698427.1",
"gene_hgnc_id": 8840,
"gene_symbol": "PEPD",
"hgvs_c": "c.1345C>T",
"hgvs_p": "p.Leu449Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513714.1",
"strand": false,
"transcript": "ENST00000698427.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 506,
"aa_ref": "L",
"aa_start": 448,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1946,
"cdna_start": 1373,
"cds_end": null,
"cds_length": 1521,
"cds_start": 1342,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000879074.1",
"gene_hgnc_id": 8840,
"gene_symbol": "PEPD",
"hgvs_c": "c.1342C>T",
"hgvs_p": "p.Leu448Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549133.1",
"strand": false,
"transcript": "ENST00000879074.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 504,
"aa_ref": "L",
"aa_start": 446,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1923,
"cdna_start": 1350,
"cds_end": null,
"cds_length": 1515,
"cds_start": 1336,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000947369.1",
"gene_hgnc_id": 8840,
"gene_symbol": "PEPD",
"hgvs_c": "c.1336C>T",
"hgvs_p": "p.Leu446Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617428.1",
"strand": false,
"transcript": "ENST00000947369.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 488,
"aa_ref": "L",
"aa_start": 430,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1869,
"cdna_start": 1296,
"cds_end": null,
"cds_length": 1467,
"cds_start": 1288,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000879078.1",
"gene_hgnc_id": 8840,
"gene_symbol": "PEPD",
"hgvs_c": "c.1288C>T",
"hgvs_p": "p.Leu430Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549137.1",
"strand": false,
"transcript": "ENST00000879078.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 483,
"aa_ref": "L",
"aa_start": 435,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1892,
"cdna_start": 1351,
"cds_end": null,
"cds_length": 1452,
"cds_start": 1303,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000879073.1",
"gene_hgnc_id": 8840,
"gene_symbol": "PEPD",
"hgvs_c": "c.1303C>T",
"hgvs_p": "p.Leu435Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549132.1",
"strand": false,
"transcript": "ENST00000879073.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 478,
"aa_ref": "L",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1847,
"cdna_start": 1289,
"cds_end": null,
"cds_length": 1437,
"cds_start": 1258,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000698359.1",
"gene_hgnc_id": 8840,
"gene_symbol": "PEPD",
"hgvs_c": "c.1258C>T",
"hgvs_p": "p.Leu420Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513682.1",
"strand": false,
"transcript": "ENST00000698359.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 477,
"aa_ref": "L",
"aa_start": 419,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1835,
"cdna_start": 1271,
"cds_end": null,
"cds_length": 1434,
"cds_start": 1255,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000947370.1",
"gene_hgnc_id": 8840,
"gene_symbol": "PEPD",
"hgvs_c": "c.1255C>T",
"hgvs_p": "p.Leu419Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617429.1",
"strand": false,
"transcript": "ENST00000947370.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 470,
"aa_ref": "L",
"aa_start": 412,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1835,
"cdna_start": 1265,
"cds_end": null,
"cds_length": 1413,
"cds_start": 1234,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000879077.1",
"gene_hgnc_id": 8840,
"gene_symbol": "PEPD",
"hgvs_c": "c.1234C>T",
"hgvs_p": "p.Leu412Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549136.1",
"strand": false,
"transcript": "ENST00000879077.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 469,
"aa_ref": "L",
"aa_start": 411,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1830,
"cdna_start": 1262,
"cds_end": null,
"cds_length": 1410,
"cds_start": 1231,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000926219.1",
"gene_hgnc_id": 8840,
"gene_symbol": "PEPD",
"hgvs_c": "c.1231C>T",
"hgvs_p": "p.Leu411Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596278.1",
"strand": false,
"transcript": "ENST00000926219.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 452,
"aa_ref": "L",
"aa_start": 394,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1784,
"cdna_start": 1211,
"cds_end": null,
"cds_length": 1359,
"cds_start": 1180,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001166056.2",
"gene_hgnc_id": 8840,
"gene_symbol": "PEPD",
"hgvs_c": "c.1180C>T",
"hgvs_p": "p.Leu394Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001159528.1",
"strand": false,
"transcript": "NM_001166056.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 452,
"aa_ref": "L",
"aa_start": 394,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1754,
"cdna_start": 1211,
"cds_end": null,
"cds_length": 1359,
"cds_start": 1180,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000397032.8",
"gene_hgnc_id": 8840,
"gene_symbol": "PEPD",
"hgvs_c": "c.1180C>T",
"hgvs_p": "p.Leu394Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380226.3",
"strand": false,
"transcript": "ENST00000397032.8",
"transcript_support_level": 2
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 444,
"aa_ref": "L",
"aa_start": 386,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1760,
"cdna_start": 1187,
"cds_end": null,
"cds_length": 1335,
"cds_start": 1156,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000879075.1",
"gene_hgnc_id": 8840,
"gene_symbol": "PEPD",
"hgvs_c": "c.1156C>T",
"hgvs_p": "p.Leu386Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549134.1",
"strand": false,
"transcript": "ENST00000879075.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
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"aa_length": 429,
"aa_ref": "L",
"aa_start": 371,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1715,
"cdna_start": 1142,
"cds_end": null,
"cds_length": 1290,
"cds_start": 1111,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001166057.2",
"gene_hgnc_id": 8840,
"gene_symbol": "PEPD",
"hgvs_c": "c.1111C>T",
"hgvs_p": "p.Leu371Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001159529.1",
"strand": false,
"transcript": "NM_001166057.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
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"aa_length": 429,
"aa_ref": "L",
"aa_start": 371,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1638,
"cdna_start": 1139,
"cds_end": null,
"cds_length": 1290,
"cds_start": 1111,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000436370.7",
"gene_hgnc_id": 8840,
"gene_symbol": "PEPD",
"hgvs_c": "c.1111C>T",
"hgvs_p": "p.Leu371Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000391890.2",
"strand": false,
"transcript": "ENST00000436370.7",
"transcript_support_level": 2
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 429,
"aa_ref": "L",
"aa_start": 371,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1670,
"cdna_start": 1112,
"cds_end": null,
"cds_length": 1290,
"cds_start": 1111,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000698432.1",
"gene_hgnc_id": 8840,
"gene_symbol": "PEPD",
"hgvs_c": "c.1111C>T",
"hgvs_p": "p.Leu371Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513718.1",
"strand": false,
"transcript": "ENST00000698432.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 420,
"aa_ref": "L",
"aa_start": 362,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1687,
"cdna_start": 1115,
"cds_end": null,
"cds_length": 1263,
"cds_start": 1084,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000879076.1",
"gene_hgnc_id": 8840,
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