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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: 3-136327638-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=136327638&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS3",
"PM1",
"PP2",
"PP3_Strong",
"PP5_Very_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PCCB",
"hgnc_id": 8654,
"hgvs_c": "c.1364A>G",
"hgvs_p": "p.Tyr455Cys",
"inheritance_mode": "AR",
"pathogenic_score": 19,
"score": 19,
"transcript": "NM_001178014.2",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PM1,PP2,PP3_Strong,PP5_Very_Strong",
"acmg_score": 19,
"allele_count_reference_population": 137,
"alphamissense_prediction": null,
"alphamissense_score": 0.8761,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.61,
"chr": "3",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_disease": "Propionic acidemia",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:5 LP:3 O:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9480452537536621,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 539,
"aa_ref": "Y",
"aa_start": 435,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1799,
"cdna_start": 1340,
"cds_end": null,
"cds_length": 1620,
"cds_start": 1304,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_000532.5",
"gene_hgnc_id": 8654,
"gene_symbol": "PCCB",
"hgvs_c": "c.1304A>G",
"hgvs_p": "p.Tyr435Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000251654.9",
"protein_coding": true,
"protein_id": "NP_000523.2",
"strand": true,
"transcript": "NM_000532.5",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 539,
"aa_ref": "Y",
"aa_start": 435,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1799,
"cdna_start": 1340,
"cds_end": null,
"cds_length": 1620,
"cds_start": 1304,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000251654.9",
"gene_hgnc_id": 8654,
"gene_symbol": "PCCB",
"hgvs_c": "c.1304A>G",
"hgvs_p": "p.Tyr435Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000532.5",
"protein_coding": true,
"protein_id": "ENSP00000251654.4",
"strand": true,
"transcript": "ENST00000251654.9",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 550,
"aa_ref": "Y",
"aa_start": 435,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6090,
"cdna_start": 1322,
"cds_end": null,
"cds_length": 1653,
"cds_start": 1304,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000471595.5",
"gene_hgnc_id": 8654,
"gene_symbol": "PCCB",
"hgvs_c": "c.1304A>G",
"hgvs_p": "p.Tyr435Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000417549.1",
"strand": true,
"transcript": "ENST00000471595.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 303,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4502,
"cdna_start": null,
"cds_end": null,
"cds_length": 912,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000478469.5",
"gene_hgnc_id": 8654,
"gene_symbol": "PCCB",
"hgvs_c": "c.885-6642A>G",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000420759.1",
"strand": true,
"transcript": "ENST00000478469.5",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 579,
"aa_ref": "Y",
"aa_start": 475,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1905,
"cdna_start": 1448,
"cds_end": null,
"cds_length": 1740,
"cds_start": 1424,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000878355.1",
"gene_hgnc_id": 8654,
"gene_symbol": "PCCB",
"hgvs_c": "c.1424A>G",
"hgvs_p": "p.Tyr475Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548414.1",
"strand": true,
"transcript": "ENST00000878355.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 576,
"aa_ref": "Y",
"aa_start": 472,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1901,
"cdna_start": 1442,
"cds_end": null,
"cds_length": 1731,
"cds_start": 1415,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000878352.1",
"gene_hgnc_id": 8654,
"gene_symbol": "PCCB",
"hgvs_c": "c.1415A>G",
"hgvs_p": "p.Tyr472Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548411.1",
"strand": true,
"transcript": "ENST00000878352.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 570,
"aa_ref": "Y",
"aa_start": 466,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1877,
"cdna_start": 1418,
"cds_end": null,
"cds_length": 1713,
"cds_start": 1397,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000468777.5",
"gene_hgnc_id": 8654,
"gene_symbol": "PCCB",
"hgvs_c": "c.1397A>G",
"hgvs_p": "p.Tyr466Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000419129.1",
"strand": true,
"transcript": "ENST00000468777.5",
"transcript_support_level": 3
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 570,
"aa_ref": "Y",
"aa_start": 466,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1918,
"cdna_start": 1459,
"cds_end": null,
"cds_length": 1713,
"cds_start": 1397,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000878348.1",
"gene_hgnc_id": 8654,
"gene_symbol": "PCCB",
"hgvs_c": "c.1397A>G",
"hgvs_p": "p.Tyr466Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548407.1",
"strand": true,
"transcript": "ENST00000878348.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 568,
"aa_ref": "Y",
"aa_start": 464,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2358,
"cdna_start": 1427,
"cds_end": null,
"cds_length": 1707,
"cds_start": 1391,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000878344.1",
"gene_hgnc_id": 8654,
"gene_symbol": "PCCB",
"hgvs_c": "c.1391A>G",
"hgvs_p": "p.Tyr464Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548403.1",
"strand": true,
"transcript": "ENST00000878344.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 559,
"aa_ref": "Y",
"aa_start": 455,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1859,
"cdna_start": 1400,
"cds_end": null,
"cds_length": 1680,
"cds_start": 1364,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001178014.2",
"gene_hgnc_id": 8654,
"gene_symbol": "PCCB",
"hgvs_c": "c.1364A>G",
"hgvs_p": "p.Tyr455Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171485.1",
"strand": true,
"transcript": "NM_001178014.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 559,
"aa_ref": "Y",
"aa_start": 455,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1844,
"cdna_start": 1385,
"cds_end": null,
"cds_length": 1680,
"cds_start": 1364,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000466072.5",
"gene_hgnc_id": 8654,
"gene_symbol": "PCCB",
"hgvs_c": "c.1364A>G",
"hgvs_p": "p.Tyr455Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000420158.1",
"strand": true,
"transcript": "ENST00000466072.5",
"transcript_support_level": 3
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 559,
"aa_ref": "Y",
"aa_start": 455,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1841,
"cdna_start": 1381,
"cds_end": null,
"cds_length": 1680,
"cds_start": 1364,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000469217.5",
"gene_hgnc_id": 8654,
"gene_symbol": "PCCB",
"hgvs_c": "c.1364A>G",
"hgvs_p": "p.Tyr455Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000419027.1",
"strand": true,
"transcript": "ENST00000469217.5",
"transcript_support_level": 2
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 537,
"aa_ref": "Y",
"aa_start": 433,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1781,
"cdna_start": 1322,
"cds_end": null,
"cds_length": 1614,
"cds_start": 1298,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000878354.1",
"gene_hgnc_id": 8654,
"gene_symbol": "PCCB",
"hgvs_c": "c.1298A>G",
"hgvs_p": "p.Tyr433Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548413.1",
"strand": true,
"transcript": "ENST00000878354.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 537,
"aa_ref": "Y",
"aa_start": 433,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1793,
"cdna_start": 1331,
"cds_end": null,
"cds_length": 1614,
"cds_start": 1298,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000954230.1",
"gene_hgnc_id": 8654,
"gene_symbol": "PCCB",
"hgvs_c": "c.1298A>G",
"hgvs_p": "p.Tyr433Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624289.1",
"strand": true,
"transcript": "ENST00000954230.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 520,
"aa_ref": "Y",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1727,
"cdna_start": 1268,
"cds_end": null,
"cds_length": 1563,
"cds_start": 1247,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000483687.5",
"gene_hgnc_id": 8654,
"gene_symbol": "PCCB",
"hgvs_c": "c.1247A>G",
"hgvs_p": "p.Tyr416Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000420639.1",
"strand": true,
"transcript": "ENST00000483687.5",
"transcript_support_level": 3
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 519,
"aa_ref": "Y",
"aa_start": 415,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1716,
"cdna_start": 1259,
"cds_end": null,
"cds_length": 1560,
"cds_start": 1244,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000954231.1",
"gene_hgnc_id": 8654,
"gene_symbol": "PCCB",
"hgvs_c": "c.1244A>G",
"hgvs_p": "p.Tyr415Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624290.1",
"strand": true,
"transcript": "ENST00000954231.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 516,
"aa_ref": "Y",
"aa_start": 412,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1715,
"cdna_start": 1256,
"cds_end": null,
"cds_length": 1551,
"cds_start": 1235,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000462637.5",
"gene_hgnc_id": 8654,
"gene_symbol": "PCCB",
"hgvs_c": "c.1235A>G",
"hgvs_p": "p.Tyr412Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000420391.1",
"strand": true,
"transcript": "ENST00000462637.5",
"transcript_support_level": 3
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 503,
"aa_ref": "Y",
"aa_start": 399,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2126,
"cdna_start": 1211,
"cds_end": null,
"cds_length": 1512,
"cds_start": 1196,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000878345.1",
"gene_hgnc_id": 8654,
"gene_symbol": "PCCB",
"hgvs_c": "c.1196A>G",
"hgvs_p": "p.Tyr399Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548404.1",
"strand": true,
"transcript": "ENST00000878345.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 502,
"aa_ref": "Y",
"aa_start": 398,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1679,
"cdna_start": 1220,
"cds_end": null,
"cds_length": 1509,
"cds_start": 1193,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000878353.1",
"gene_hgnc_id": 8654,
"gene_symbol": "PCCB",
"hgvs_c": "c.1193A>G",
"hgvs_p": "p.Tyr398Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548412.1",
"strand": true,
"transcript": "ENST00000878353.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 501,
"aa_ref": "Y",
"aa_start": 397,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1685,
"cdna_start": 1226,
"cds_end": null,
"cds_length": 1506,
"cds_start": 1190,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000954229.1",
"gene_hgnc_id": 8654,
"gene_symbol": "PCCB",
"hgvs_c": "c.1190A>G",
"hgvs_p": "p.Tyr397Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624288.1",
"strand": true,
"transcript": "ENST00000954229.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 499,
"aa_ref": "Y",
"aa_start": 395,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1680,
"cdna_start": 1220,
"cds_end": null,
"cds_length": 1500,
"cds_start": 1184,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000878349.1",
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