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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: 3-136326881-CTT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=136326881&ref=CTT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"effects": [
"frameshift_variant"
],
"gene_symbol": "PCCB",
"hgnc_id": 8654,
"hgvs_c": "c.1232_1233delTT",
"hgvs_p": "p.Phe411fs",
"inheritance_mode": "AR",
"pathogenic_score": 12,
"score": 12,
"transcript": "NM_001178014.2",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_score": 12,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "3",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Propionic acidemia",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 539,
"aa_ref": "F",
"aa_start": 391,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1799,
"cdna_start": 1208,
"cds_end": null,
"cds_length": 1620,
"cds_start": 1172,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_000532.5",
"gene_hgnc_id": 8654,
"gene_symbol": "PCCB",
"hgvs_c": "c.1172_1173delTT",
"hgvs_p": "p.Phe391fs",
"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": null,
"aa_end": null,
"aa_length": 539,
"aa_ref": "F",
"aa_start": 391,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1799,
"cdna_start": 1208,
"cds_end": null,
"cds_length": 1620,
"cds_start": 1172,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000251654.9",
"gene_hgnc_id": 8654,
"gene_symbol": "PCCB",
"hgvs_c": "c.1172_1173delTT",
"hgvs_p": "p.Phe391fs",
"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": null,
"aa_end": null,
"aa_length": 550,
"aa_ref": "F",
"aa_start": 391,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6090,
"cdna_start": 1190,
"cds_end": null,
"cds_length": 1653,
"cds_start": 1172,
"consequences": [
"frameshift_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000471595.5",
"gene_hgnc_id": 8654,
"gene_symbol": "PCCB",
"hgvs_c": "c.1172_1173delTT",
"hgvs_p": "p.Phe391fs",
"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.885-7396_885-7395delTT",
"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": null,
"aa_end": null,
"aa_length": 579,
"aa_ref": "F",
"aa_start": 431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1905,
"cdna_start": 1316,
"cds_end": null,
"cds_length": 1740,
"cds_start": 1292,
"consequences": [
"frameshift_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000878355.1",
"gene_hgnc_id": 8654,
"gene_symbol": "PCCB",
"hgvs_c": "c.1292_1293delTT",
"hgvs_p": "p.Phe431fs",
"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": null,
"aa_end": null,
"aa_length": 576,
"aa_ref": "F",
"aa_start": 428,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1901,
"cdna_start": 1310,
"cds_end": null,
"cds_length": 1731,
"cds_start": 1283,
"consequences": [
"frameshift_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000878352.1",
"gene_hgnc_id": 8654,
"gene_symbol": "PCCB",
"hgvs_c": "c.1283_1284delTT",
"hgvs_p": "p.Phe428fs",
"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": null,
"aa_end": null,
"aa_length": 570,
"aa_ref": "F",
"aa_start": 422,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1877,
"cdna_start": 1286,
"cds_end": null,
"cds_length": 1713,
"cds_start": 1265,
"consequences": [
"frameshift_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000468777.5",
"gene_hgnc_id": 8654,
"gene_symbol": "PCCB",
"hgvs_c": "c.1265_1266delTT",
"hgvs_p": "p.Phe422fs",
"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": null,
"aa_end": null,
"aa_length": 570,
"aa_ref": "F",
"aa_start": 422,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1918,
"cdna_start": 1327,
"cds_end": null,
"cds_length": 1713,
"cds_start": 1265,
"consequences": [
"frameshift_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000878348.1",
"gene_hgnc_id": 8654,
"gene_symbol": "PCCB",
"hgvs_c": "c.1265_1266delTT",
"hgvs_p": "p.Phe422fs",
"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": null,
"aa_end": null,
"aa_length": 568,
"aa_ref": "F",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2358,
"cdna_start": 1295,
"cds_end": null,
"cds_length": 1707,
"cds_start": 1259,
"consequences": [
"frameshift_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000878344.1",
"gene_hgnc_id": 8654,
"gene_symbol": "PCCB",
"hgvs_c": "c.1259_1260delTT",
"hgvs_p": "p.Phe420fs",
"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": null,
"aa_end": null,
"aa_length": 559,
"aa_ref": "F",
"aa_start": 411,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1859,
"cdna_start": 1268,
"cds_end": null,
"cds_length": 1680,
"cds_start": 1232,
"consequences": [
"frameshift_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001178014.2",
"gene_hgnc_id": 8654,
"gene_symbol": "PCCB",
"hgvs_c": "c.1232_1233delTT",
"hgvs_p": "p.Phe411fs",
"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": null,
"aa_end": null,
"aa_length": 559,
"aa_ref": "F",
"aa_start": 411,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1844,
"cdna_start": 1253,
"cds_end": null,
"cds_length": 1680,
"cds_start": 1232,
"consequences": [
"frameshift_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000466072.5",
"gene_hgnc_id": 8654,
"gene_symbol": "PCCB",
"hgvs_c": "c.1232_1233delTT",
"hgvs_p": "p.Phe411fs",
"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": null,
"aa_end": null,
"aa_length": 559,
"aa_ref": "F",
"aa_start": 411,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1841,
"cdna_start": 1249,
"cds_end": null,
"cds_length": 1680,
"cds_start": 1232,
"consequences": [
"frameshift_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000469217.5",
"gene_hgnc_id": 8654,
"gene_symbol": "PCCB",
"hgvs_c": "c.1232_1233delTT",
"hgvs_p": "p.Phe411fs",
"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": null,
"aa_end": null,
"aa_length": 537,
"aa_ref": "F",
"aa_start": 391,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1781,
"cdna_start": 1196,
"cds_end": null,
"cds_length": 1614,
"cds_start": 1172,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000878354.1",
"gene_hgnc_id": 8654,
"gene_symbol": "PCCB",
"hgvs_c": "c.1172_1173delTT",
"hgvs_p": "p.Phe391fs",
"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": null,
"aa_end": null,
"aa_length": 537,
"aa_ref": "F",
"aa_start": 389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1793,
"cdna_start": 1199,
"cds_end": null,
"cds_length": 1614,
"cds_start": 1166,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000954230.1",
"gene_hgnc_id": 8654,
"gene_symbol": "PCCB",
"hgvs_c": "c.1166_1167delTT",
"hgvs_p": "p.Phe389fs",
"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": null,
"aa_end": null,
"aa_length": 520,
"aa_ref": "F",
"aa_start": 372,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1727,
"cdna_start": 1136,
"cds_end": null,
"cds_length": 1563,
"cds_start": 1115,
"consequences": [
"frameshift_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000483687.5",
"gene_hgnc_id": 8654,
"gene_symbol": "PCCB",
"hgvs_c": "c.1115_1116delTT",
"hgvs_p": "p.Phe372fs",
"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": null,
"aa_end": null,
"aa_length": 519,
"aa_ref": "F",
"aa_start": 371,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1716,
"cdna_start": 1127,
"cds_end": null,
"cds_length": 1560,
"cds_start": 1112,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000954231.1",
"gene_hgnc_id": 8654,
"gene_symbol": "PCCB",
"hgvs_c": "c.1112_1113delTT",
"hgvs_p": "p.Phe371fs",
"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": null,
"aa_end": null,
"aa_length": 516,
"aa_ref": "F",
"aa_start": 368,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1715,
"cdna_start": 1124,
"cds_end": null,
"cds_length": 1551,
"cds_start": 1103,
"consequences": [
"frameshift_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000462637.5",
"gene_hgnc_id": 8654,
"gene_symbol": "PCCB",
"hgvs_c": "c.1103_1104delTT",
"hgvs_p": "p.Phe368fs",
"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": null,
"aa_end": null,
"aa_length": 502,
"aa_ref": "F",
"aa_start": 354,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1679,
"cdna_start": 1088,
"cds_end": null,
"cds_length": 1509,
"cds_start": 1061,
"consequences": [
"frameshift_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000878353.1",
"gene_hgnc_id": 8654,
"gene_symbol": "PCCB",
"hgvs_c": "c.1061_1062delTT",
"hgvs_p": "p.Phe354fs",
"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": null,
"aa_end": null,
"aa_length": 501,
"aa_ref": "F",
"aa_start": 353,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1685,
"cdna_start": 1094,
"cds_end": null,
"cds_length": 1506,
"cds_start": 1058,
"consequences": [
"frameshift_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000954229.1",
"gene_hgnc_id": 8654,
"gene_symbol": "PCCB",
"hgvs_c": "c.1058_1059delTT",
"hgvs_p": "p.Phe353fs",
"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": null,
"aa_end": null,
"aa_length": 499,
"aa_ref": "F",
"aa_start": 351,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1680,
"cdna_start": 1088,
"cds_end": null,
"cds_length": 1500,
"cds_start": 1052,
"consequences": [
"frameshift_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000878349.1",
"gene_hgnc_id": 8654,
"gene_symbol": "PCCB",
"hgvs_c": "c.1052_1053delTT",
"hgvs_p": "p.Phe351fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548408.1",
"strand": true,
"transcript": "ENST00000878349.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 482,
"aa_ref": "F",
"aa_start": 334,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1613,
"cdna_start": 1022,
"cds_end": null,
"cds_length": 1449,
"cds_start": 1001,
"consequences": [
"frameshift_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000490504.5",
"gene_hgnc_id": 8654,
"gene_symbol": "PCCB",
"hgvs_c": "c.1001_1002delTT",
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