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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: 19-33388000-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=33388000&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 33388000,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_000285.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEPD",
"gene_hgnc_id": 8840,
"hgvs_c": "c.1234G>A",
"hgvs_p": "p.Glu412Lys",
"transcript": "NM_000285.4",
"protein_id": "NP_000276.2",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 493,
"cds_start": 1234,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000244137.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000285.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEPD",
"gene_hgnc_id": 8840,
"hgvs_c": "c.1234G>A",
"hgvs_p": "p.Glu412Lys",
"transcript": "ENST00000244137.12",
"protein_id": "ENSP00000244137.5",
"transcript_support_level": 1,
"aa_start": 412,
"aa_end": null,
"aa_length": 493,
"cds_start": 1234,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000285.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000244137.12"
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEPD",
"gene_hgnc_id": 8840,
"hgvs_c": "c.1350G>A",
"hgvs_p": "p.Trp450*",
"transcript": "ENST00000698361.1",
"protein_id": "ENSP00000513684.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 495,
"cds_start": 1350,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698361.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEPD",
"gene_hgnc_id": 8840,
"hgvs_c": "c.1234G>A",
"hgvs_p": "p.Glu412Lys",
"transcript": "ENST00000651901.2",
"protein_id": "ENSP00000498922.2",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 523,
"cds_start": 1234,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651901.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEPD",
"gene_hgnc_id": 8840,
"hgvs_c": "c.1300G>A",
"hgvs_p": "p.Glu434Lys",
"transcript": "ENST00000588328.7",
"protein_id": "ENSP00000468516.4",
"transcript_support_level": 3,
"aa_start": 434,
"aa_end": null,
"aa_length": 515,
"cds_start": 1300,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000588328.7"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEPD",
"gene_hgnc_id": 8840,
"hgvs_c": "c.1285G>A",
"hgvs_p": "p.Glu429Lys",
"transcript": "ENST00000698360.1",
"protein_id": "ENSP00000513683.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 510,
"cds_start": 1285,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698360.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEPD",
"gene_hgnc_id": 8840,
"hgvs_c": "c.1276G>A",
"hgvs_p": "p.Glu426Lys",
"transcript": "ENST00000698427.1",
"protein_id": "ENSP00000513714.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 507,
"cds_start": 1276,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698427.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEPD",
"gene_hgnc_id": 8840,
"hgvs_c": "c.1273G>A",
"hgvs_p": "p.Glu425Lys",
"transcript": "ENST00000879074.1",
"protein_id": "ENSP00000549133.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 506,
"cds_start": 1273,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879074.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEPD",
"gene_hgnc_id": 8840,
"hgvs_c": "c.1267G>A",
"hgvs_p": "p.Glu423Lys",
"transcript": "ENST00000947369.1",
"protein_id": "ENSP00000617428.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 504,
"cds_start": 1267,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947369.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEPD",
"gene_hgnc_id": 8840,
"hgvs_c": "c.1219G>A",
"hgvs_p": "p.Glu407Lys",
"transcript": "ENST00000879078.1",
"protein_id": "ENSP00000549137.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 488,
"cds_start": 1219,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879078.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEPD",
"gene_hgnc_id": 8840,
"hgvs_c": "c.1234G>A",
"hgvs_p": "p.Glu412Lys",
"transcript": "ENST00000879073.1",
"protein_id": "ENSP00000549132.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 483,
"cds_start": 1234,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879073.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEPD",
"gene_hgnc_id": 8840,
"hgvs_c": "c.1189G>A",
"hgvs_p": "p.Glu397Lys",
"transcript": "ENST00000698359.1",
"protein_id": "ENSP00000513682.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 478,
"cds_start": 1189,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698359.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEPD",
"gene_hgnc_id": 8840,
"hgvs_c": "c.1186G>A",
"hgvs_p": "p.Glu396Lys",
"transcript": "ENST00000947370.1",
"protein_id": "ENSP00000617429.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 477,
"cds_start": 1186,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947370.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEPD",
"gene_hgnc_id": 8840,
"hgvs_c": "c.1165G>A",
"hgvs_p": "p.Glu389Lys",
"transcript": "ENST00000879077.1",
"protein_id": "ENSP00000549136.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 470,
"cds_start": 1165,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879077.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEPD",
"gene_hgnc_id": 8840,
"hgvs_c": "c.1162G>A",
"hgvs_p": "p.Glu388Lys",
"transcript": "ENST00000926219.1",
"protein_id": "ENSP00000596278.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 469,
"cds_start": 1162,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926219.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEPD",
"gene_hgnc_id": 8840,
"hgvs_c": "c.1111G>A",
"hgvs_p": "p.Glu371Lys",
"transcript": "NM_001166056.2",
"protein_id": "NP_001159528.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 452,
"cds_start": 1111,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166056.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEPD",
"gene_hgnc_id": 8840,
"hgvs_c": "c.1111G>A",
"hgvs_p": "p.Glu371Lys",
"transcript": "ENST00000397032.8",
"protein_id": "ENSP00000380226.3",
"transcript_support_level": 2,
"aa_start": 371,
"aa_end": null,
"aa_length": 452,
"cds_start": 1111,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397032.8"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEPD",
"gene_hgnc_id": 8840,
"hgvs_c": "c.1087G>A",
"hgvs_p": "p.Glu363Lys",
"transcript": "ENST00000879075.1",
"protein_id": "ENSP00000549134.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 444,
"cds_start": 1087,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879075.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEPD",
"gene_hgnc_id": 8840,
"hgvs_c": "c.1042G>A",
"hgvs_p": "p.Glu348Lys",
"transcript": "NM_001166057.2",
"protein_id": "NP_001159529.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 429,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166057.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEPD",
"gene_hgnc_id": 8840,
"hgvs_c": "c.1042G>A",
"hgvs_p": "p.Glu348Lys",
"transcript": "ENST00000436370.7",
"protein_id": "ENSP00000391890.2",
"transcript_support_level": 2,
"aa_start": 348,
"aa_end": null,
"aa_length": 429,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000436370.7"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEPD",
"gene_hgnc_id": 8840,
"hgvs_c": "c.1042G>A",
"hgvs_p": "p.Glu348Lys",
"transcript": "ENST00000698432.1",
"protein_id": "ENSP00000513718.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 429,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698432.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEPD",
"gene_hgnc_id": 8840,
"hgvs_c": "c.1015G>A",
"hgvs_p": "p.Glu339Lys",
"transcript": "ENST00000879076.1",
"protein_id": "ENSP00000549135.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 420,
"cds_start": 1015,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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},
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{
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],
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"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Prolidase deficiency",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}