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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: 19-33411697-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=33411697&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 33411697,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000244137.12",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEPD",
"gene_hgnc_id": 8840,
"hgvs_c": "c.793C>T",
"hgvs_p": "p.Arg265*",
"transcript": "NM_000285.4",
"protein_id": "NP_000276.2",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 493,
"cds_start": 793,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 824,
"cdna_end": null,
"cdna_length": 1907,
"mane_select": "ENST00000244137.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEPD",
"gene_hgnc_id": 8840,
"hgvs_c": "c.793C>T",
"hgvs_p": "p.Arg265*",
"transcript": "ENST00000244137.12",
"protein_id": "ENSP00000244137.5",
"transcript_support_level": 1,
"aa_start": 265,
"aa_end": null,
"aa_length": 493,
"cds_start": 793,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 824,
"cdna_end": null,
"cdna_length": 1907,
"mane_select": "NM_000285.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEPD",
"gene_hgnc_id": 8840,
"hgvs_c": "c.793C>T",
"hgvs_p": "p.Arg265*",
"transcript": "ENST00000651901.2",
"protein_id": "ENSP00000498922.2",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 523,
"cds_start": 793,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 824,
"cdna_end": null,
"cdna_length": 1839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEPD",
"gene_hgnc_id": 8840,
"hgvs_c": "c.793C>T",
"hgvs_p": "p.Arg265*",
"transcript": "ENST00000588328.7",
"protein_id": "ENSP00000468516.4",
"transcript_support_level": 3,
"aa_start": 265,
"aa_end": null,
"aa_length": 515,
"cds_start": 793,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 824,
"cdna_end": null,
"cdna_length": 1971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEPD",
"gene_hgnc_id": 8840,
"hgvs_c": "c.844C>T",
"hgvs_p": "p.Arg282*",
"transcript": "ENST00000698360.1",
"protein_id": "ENSP00000513683.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 510,
"cds_start": 844,
"cds_end": null,
"cds_length": 1533,
"cdna_start": 881,
"cdna_end": null,
"cdna_length": 1949,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEPD",
"gene_hgnc_id": 8840,
"hgvs_c": "c.835C>T",
"hgvs_p": "p.Arg279*",
"transcript": "ENST00000698427.1",
"protein_id": "ENSP00000513714.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 507,
"cds_start": 835,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 924,
"cdna_end": null,
"cdna_length": 2002,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEPD",
"gene_hgnc_id": 8840,
"hgvs_c": "c.793C>T",
"hgvs_p": "p.Arg265*",
"transcript": "ENST00000698361.1",
"protein_id": "ENSP00000513684.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 495,
"cds_start": 793,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 856,
"cdna_end": null,
"cdna_length": 2040,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEPD",
"gene_hgnc_id": 8840,
"hgvs_c": "c.748C>T",
"hgvs_p": "p.Arg250*",
"transcript": "ENST00000698359.1",
"protein_id": "ENSP00000513682.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 478,
"cds_start": 748,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 779,
"cdna_end": null,
"cdna_length": 1847,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEPD",
"gene_hgnc_id": 8840,
"hgvs_c": "c.670C>T",
"hgvs_p": "p.Arg224*",
"transcript": "NM_001166056.2",
"protein_id": "NP_001159528.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 452,
"cds_start": 670,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 701,
"cdna_end": null,
"cdna_length": 1784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEPD",
"gene_hgnc_id": 8840,
"hgvs_c": "c.670C>T",
"hgvs_p": "p.Arg224*",
"transcript": "ENST00000397032.8",
"protein_id": "ENSP00000380226.3",
"transcript_support_level": 2,
"aa_start": 224,
"aa_end": null,
"aa_length": 452,
"cds_start": 670,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 701,
"cdna_end": null,
"cdna_length": 1754,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEPD",
"gene_hgnc_id": 8840,
"hgvs_c": "c.601C>T",
"hgvs_p": "p.Arg201*",
"transcript": "NM_001166057.2",
"protein_id": "NP_001159529.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 429,
"cds_start": 601,
"cds_end": null,
"cds_length": 1290,
"cdna_start": 632,
"cdna_end": null,
"cdna_length": 1715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEPD",
"gene_hgnc_id": 8840,
"hgvs_c": "c.601C>T",
"hgvs_p": "p.Arg201*",
"transcript": "ENST00000436370.7",
"protein_id": "ENSP00000391890.2",
"transcript_support_level": 2,
"aa_start": 201,
"aa_end": null,
"aa_length": 429,
"cds_start": 601,
"cds_end": null,
"cds_length": 1290,
"cdna_start": 629,
"cdna_end": null,
"cdna_length": 1638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEPD",
"gene_hgnc_id": 8840,
"hgvs_c": "c.601C>T",
"hgvs_p": "p.Arg201*",
"transcript": "ENST00000698432.1",
"protein_id": "ENSP00000513718.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 429,
"cds_start": 601,
"cds_end": null,
"cds_length": 1290,
"cdna_start": 602,
"cdna_end": null,
"cdna_length": 1670,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEPD",
"gene_hgnc_id": 8840,
"hgvs_c": "c.472C>T",
"hgvs_p": "p.Arg158*",
"transcript": "ENST00000698426.1",
"protein_id": "ENSP00000513713.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 386,
"cds_start": 472,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 1001,
"cdna_end": null,
"cdna_length": 2079,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEPD",
"gene_hgnc_id": 8840,
"hgvs_c": "c.472C>T",
"hgvs_p": "p.Arg158*",
"transcript": "ENST00000698428.1",
"protein_id": "ENSP00000513715.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 386,
"cds_start": 472,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 896,
"cdna_end": null,
"cdna_length": 1974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEPD",
"gene_hgnc_id": 8840,
"hgvs_c": "c.793C>T",
"hgvs_p": "p.Arg265*",
"transcript": "ENST00000698362.1",
"protein_id": "ENSP00000513685.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 361,
"cds_start": 793,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 856,
"cdna_end": null,
"cdna_length": 2114,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEPD",
"gene_hgnc_id": 8840,
"hgvs_c": "c.481C>T",
"hgvs_p": "p.Arg161*",
"transcript": "ENST00000698435.1",
"protein_id": "ENSP00000513719.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 194,
"cds_start": 481,
"cds_end": null,
"cds_length": 586,
"cdna_start": 510,
"cdna_end": null,
"cdna_length": 615,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEPD",
"gene_hgnc_id": 8840,
"hgvs_c": "n.428C>T",
"hgvs_p": null,
"transcript": "ENST00000588719.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEPD",
"gene_hgnc_id": 8840,
"hgvs_c": "n.468C>T",
"hgvs_p": null,
"transcript": "ENST00000590731.6",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 950,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEPD",
"gene_hgnc_id": 8840,
"hgvs_c": "n.483C>T",
"hgvs_p": null,
"transcript": "ENST00000609145.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEPD",
"gene_hgnc_id": 8840,
"hgvs_c": "n.856C>T",
"hgvs_p": null,
"transcript": "ENST00000698363.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEPD",
"gene_hgnc_id": 8840,
"hgvs_c": "n.856C>T",
"hgvs_p": null,
"transcript": "ENST00000698364.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEPD",
"gene_hgnc_id": 8840,
"hgvs_c": "n.856C>T",
"hgvs_p": null,
"transcript": "ENST00000698365.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2382,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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{
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}
],
"gene_symbol": "PEPD",
"gene_hgnc_id": 8840,
"dbsnp": "rs121917725",
"frequency_reference_population": 0.000009941914,
"hom_count_reference_population": 0,
"allele_count_reference_population": 16,
"gnomad_exomes_af": 0.00000823536,
"gnomad_genomes_af": 0.0000262784,
"gnomad_exomes_ac": 12,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5699999928474426,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.57,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 2.248,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000244137.12",
"gene_symbol": "PEPD",
"hgnc_id": 8840,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.793C>T",
"hgvs_p": "p.Arg265*"
}
],
"clinvar_disease": "Prolidase deficiency,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2 O:1",
"phenotype_combined": "Prolidase deficiency|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}