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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: 1-161171095-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=161171095&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 161171095,
"ref": "T",
"alt": "G",
"effect": "stop_gained",
"transcript": "ENST00000367999.9",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.1353T>G",
"hgvs_p": "p.Tyr451*",
"transcript": "NM_001122764.3",
"protein_id": "NP_001116236.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 477,
"cds_start": 1353,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 1608,
"cdna_end": null,
"cdna_length": 1733,
"mane_select": "ENST00000367999.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.1353T>G",
"hgvs_p": "p.Tyr451*",
"transcript": "ENST00000367999.9",
"protein_id": "ENSP00000356978.4",
"transcript_support_level": 1,
"aa_start": 451,
"aa_end": null,
"aa_length": 477,
"cds_start": 1353,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 1608,
"cdna_end": null,
"cdna_length": 1733,
"mane_select": "NM_001122764.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.1353T>G",
"hgvs_p": "p.Tyr451*",
"transcript": "ENST00000352210.9",
"protein_id": "ENSP00000343943.5",
"transcript_support_level": 1,
"aa_start": 451,
"aa_end": null,
"aa_length": 477,
"cds_start": 1353,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 1563,
"cdna_end": null,
"cdna_length": 1686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.1353T>G",
"hgvs_p": "p.Tyr451*",
"transcript": "NM_000309.5",
"protein_id": "NP_000300.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 477,
"cds_start": 1353,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 1547,
"cdna_end": null,
"cdna_length": 1672,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.1353T>G",
"hgvs_p": "p.Tyr451*",
"transcript": "NM_001365398.1",
"protein_id": "NP_001352327.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 477,
"cds_start": 1353,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 1463,
"cdna_end": null,
"cdna_length": 1588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.1254T>G",
"hgvs_p": "p.Tyr418*",
"transcript": "NM_001350128.2",
"protein_id": "NP_001337057.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 444,
"cds_start": 1254,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 1509,
"cdna_end": null,
"cdna_length": 1634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.1242T>G",
"hgvs_p": "p.Tyr414*",
"transcript": "NM_001365399.1",
"protein_id": "NP_001352328.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 440,
"cds_start": 1242,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 1497,
"cdna_end": null,
"cdna_length": 1622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.1242T>G",
"hgvs_p": "p.Tyr414*",
"transcript": "ENST00000652182.1",
"protein_id": "ENSP00000498884.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 434,
"cds_start": 1242,
"cds_end": null,
"cds_length": 1307,
"cdna_start": 1461,
"cdna_end": null,
"cdna_length": 1526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.1056T>G",
"hgvs_p": "p.Tyr352*",
"transcript": "ENST00000652103.1",
"protein_id": "ENSP00000498501.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 378,
"cds_start": 1056,
"cds_end": null,
"cds_length": 1137,
"cdna_start": 1057,
"cdna_end": null,
"cdna_length": 1176,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.945T>G",
"hgvs_p": "p.Tyr315*",
"transcript": "NM_001350129.2",
"protein_id": "NP_001337058.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 341,
"cds_start": 945,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 1627,
"cdna_end": null,
"cdna_length": 1752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.945T>G",
"hgvs_p": "p.Tyr315*",
"transcript": "NM_001365400.1",
"protein_id": "NP_001352329.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 341,
"cds_start": 945,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 1450,
"cdna_end": null,
"cdna_length": 1575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.867T>G",
"hgvs_p": "p.Tyr289*",
"transcript": "NM_001350130.2",
"protein_id": "NP_001337059.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 315,
"cds_start": 867,
"cds_end": null,
"cds_length": 948,
"cdna_start": 1640,
"cdna_end": null,
"cdna_length": 1765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.867T>G",
"hgvs_p": "p.Tyr289*",
"transcript": "NM_001350131.2",
"protein_id": "NP_001337060.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 315,
"cds_start": 867,
"cds_end": null,
"cds_length": 948,
"cdna_start": 1465,
"cdna_end": null,
"cdna_length": 1590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.867T>G",
"hgvs_p": "p.Tyr289*",
"transcript": "NM_001365401.1",
"protein_id": "NP_001352330.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 315,
"cds_start": 867,
"cds_end": null,
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"cdna_start": 1431,
"cdna_end": null,
"cdna_length": 1556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.609T>G",
"hgvs_p": "p.Tyr203*",
"transcript": "ENST00000537523.5",
"protein_id": "ENSP00000439544.1",
"transcript_support_level": 3,
"aa_start": 203,
"aa_end": null,
"aa_length": 229,
"cds_start": 609,
"cds_end": null,
"cds_length": 690,
"cdna_start": 611,
"cdna_end": null,
"cdna_length": 734,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.477T>G",
"hgvs_p": "p.Tyr159*",
"transcript": "ENST00000544598.5",
"protein_id": "ENSP00000444216.1",
"transcript_support_level": 2,
"aa_start": 159,
"aa_end": null,
"aa_length": 185,
"cds_start": 477,
"cds_end": null,
"cds_length": 558,
"cdna_start": 688,
"cdna_end": null,
"cdna_length": 813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.342T>G",
"hgvs_p": "p.Tyr114*",
"transcript": "ENST00000462866.5",
"protein_id": "ENSP00000491797.1",
"transcript_support_level": 5,
"aa_start": 114,
"aa_end": null,
"aa_length": 140,
"cds_start": 342,
"cds_end": null,
"cds_length": 423,
"cdna_start": 350,
"cdna_end": null,
"cdna_length": 473,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.1467T>G",
"hgvs_p": "p.Tyr489*",
"transcript": "XM_011509671.2",
"protein_id": "XP_011507973.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 515,
"cds_start": 1467,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 1669,
"cdna_end": null,
"cdna_length": 1794,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.1368T>G",
"hgvs_p": "p.Tyr456*",
"transcript": "XM_006711404.5",
"protein_id": "XP_006711467.3",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 482,
"cds_start": 1368,
"cds_end": null,
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"cdna_start": 1396,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.1254T>G",
"hgvs_p": "p.Tyr418*",
"transcript": "XM_011509672.4",
"protein_id": "XP_011507974.2",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 444,
"cds_start": 1254,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 1284,
"cdna_end": null,
"cdna_length": 1409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.1104T>G",
"hgvs_p": "p.Tyr368*",
"transcript": "XM_024447864.2",
"protein_id": "XP_024303632.2",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 394,
"cds_start": 1104,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 1132,
"cdna_end": null,
"cdna_length": 1257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.945T>G",
"hgvs_p": "p.Tyr315*",
"transcript": "XM_017001566.3",
"protein_id": "XP_016857055.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 341,
"cds_start": 945,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 1273,
"cdna_end": null,
"cdna_length": 1398,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "n.698T>G",
"hgvs_p": null,
"transcript": "ENST00000466452.1",
"protein_id": null,
"transcript_support_level": 2,
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}
],
"clinvar_disease": "Abnormal blistering of the skin,Abnormal urinary color,Constipation,Migraine",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Abnormal blistering of the skin;Constipation;Migraine;Abnormal urinary color",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}