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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: 5-162149273-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=162149273&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 162149273,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000639213.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.1088G>A",
"hgvs_p": "p.Arg363Gln",
"transcript": "NM_198904.4",
"protein_id": "NP_944494.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 475,
"cds_start": 1088,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1315,
"cdna_end": null,
"cdna_length": 3813,
"mane_select": "ENST00000639213.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.1088G>A",
"hgvs_p": "p.Arg363Gln",
"transcript": "ENST00000639213.2",
"protein_id": "ENSP00000491909.2",
"transcript_support_level": 1,
"aa_start": 363,
"aa_end": null,
"aa_length": 475,
"cds_start": 1088,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1315,
"cdna_end": null,
"cdna_length": 3813,
"mane_select": "NM_198904.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.1208G>A",
"hgvs_p": "p.Arg403Gln",
"transcript": "ENST00000414552.6",
"protein_id": "ENSP00000410732.2",
"transcript_support_level": 1,
"aa_start": 403,
"aa_end": null,
"aa_length": 515,
"cds_start": 1208,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 1433,
"cdna_end": null,
"cdna_length": 3927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.1088G>A",
"hgvs_p": "p.Arg363Gln",
"transcript": "ENST00000639111.2",
"protein_id": "ENSP00000492125.2",
"transcript_support_level": 1,
"aa_start": 363,
"aa_end": null,
"aa_length": 467,
"cds_start": 1088,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 1623,
"cdna_end": null,
"cdna_length": 11548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.1208G>A",
"hgvs_p": "p.Arg403Gln",
"transcript": "NM_198903.2",
"protein_id": "NP_944493.2",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 515,
"cds_start": 1208,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 1566,
"cdna_end": null,
"cdna_length": 4077,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.1208G>A",
"hgvs_p": "p.Arg403Gln",
"transcript": "NM_001375343.1",
"protein_id": "NP_001362272.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 507,
"cds_start": 1208,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 1743,
"cdna_end": null,
"cdna_length": 4217,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.1208G>A",
"hgvs_p": "p.Arg403Gln",
"transcript": "ENST00000361925.9",
"protein_id": "ENSP00000354651.5",
"transcript_support_level": 3,
"aa_start": 403,
"aa_end": null,
"aa_length": 507,
"cds_start": 1208,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 1334,
"cdna_end": null,
"cdna_length": 3767,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.1088G>A",
"hgvs_p": "p.Arg363Gln",
"transcript": "ENST00000641017.1",
"protein_id": "ENSP00000493461.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 498,
"cds_start": 1088,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 1088,
"cdna_end": null,
"cdna_length": 3628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.1127G>A",
"hgvs_p": "p.Arg376Gln",
"transcript": "NM_001375344.1",
"protein_id": "NP_001362273.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 488,
"cds_start": 1127,
"cds_end": null,
"cds_length": 1467,
"cdna_start": 1662,
"cdna_end": null,
"cdna_length": 4160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.1088G>A",
"hgvs_p": "p.Arg363Gln",
"transcript": "ENST00000356592.8",
"protein_id": "ENSP00000349000.4",
"transcript_support_level": 5,
"aa_start": 363,
"aa_end": null,
"aa_length": 475,
"cds_start": 1088,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1089,
"cdna_end": null,
"cdna_length": 3534,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.1085G>A",
"hgvs_p": "p.Arg362Gln",
"transcript": "NM_001375341.1",
"protein_id": "NP_001362270.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 474,
"cds_start": 1085,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 1620,
"cdna_end": null,
"cdna_length": 4118,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.1079G>A",
"hgvs_p": "p.Arg360Gln",
"transcript": "NM_001375339.1",
"protein_id": "NP_001362268.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 472,
"cds_start": 1079,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 1614,
"cdna_end": null,
"cdna_length": 4112,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.1088G>A",
"hgvs_p": "p.Arg363Gln",
"transcript": "NM_000816.3",
"protein_id": "NP_000807.2",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 467,
"cds_start": 1088,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 1446,
"cdna_end": null,
"cdna_length": 3933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.1085G>A",
"hgvs_p": "p.Arg362Gln",
"transcript": "NM_001375342.1",
"protein_id": "NP_001362271.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 466,
"cds_start": 1085,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 1620,
"cdna_end": null,
"cdna_length": 4094,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.1022G>A",
"hgvs_p": "p.Arg341Gln",
"transcript": "NM_001375346.1",
"protein_id": "NP_001362275.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 453,
"cds_start": 1022,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 1202,
"cdna_end": null,
"cdna_length": 3700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.1022G>A",
"hgvs_p": "p.Arg341Gln",
"transcript": "ENST00000639683.1",
"protein_id": "ENSP00000492581.1",
"transcript_support_level": 5,
"aa_start": 341,
"aa_end": null,
"aa_length": 453,
"cds_start": 1022,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 1185,
"cdna_end": null,
"cdna_length": 3600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.1001G>A",
"hgvs_p": "p.Arg334Gln",
"transcript": "NM_001375347.1",
"protein_id": "NP_001362276.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 446,
"cds_start": 1001,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 1158,
"cdna_end": null,
"cdna_length": 3656,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.1001G>A",
"hgvs_p": "p.Arg334Gln",
"transcript": "ENST00000640985.1",
"protein_id": "ENSP00000492293.1",
"transcript_support_level": 5,
"aa_start": 334,
"aa_end": null,
"aa_length": 446,
"cds_start": 1001,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 1102,
"cdna_end": null,
"cdna_length": 3086,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.1022G>A",
"hgvs_p": "p.Arg341Gln",
"transcript": "NM_001375345.1",
"protein_id": "NP_001362274.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 445,
"cds_start": 1022,
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"cdna_start": 1202,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.1022G>A",
"hgvs_p": "p.Arg341Gln",
"transcript": "ENST00000639975.1",
"protein_id": "ENSP00000492096.1",
"transcript_support_level": 5,
"aa_start": 341,
"aa_end": null,
"aa_length": 445,
"cds_start": 1022,
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"cdna_start": 1202,
"cdna_end": null,
"cdna_length": 3662,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.1088G>A",
"hgvs_p": "p.Arg363Gln",
"transcript": "ENST00000638772.1",
"protein_id": "ENSP00000491557.1",
"transcript_support_level": 5,
"aa_start": 363,
"aa_end": null,
"aa_length": 385,
"cds_start": 1088,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 1457,
"cdna_end": null,
"cdna_length": 7669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.1088G>A",
"hgvs_p": "p.Arg363Gln",
"transcript": "ENST00000639384.1",
"protein_id": "ENSP00000491240.1",
"transcript_support_level": 5,
"aa_start": 363,
"aa_end": null,
"aa_length": 385,
"cds_start": 1088,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 1577,
"cdna_end": null,
"cdna_length": 5360,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
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"phylop100way_score": 6.847,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000639213.2",
"gene_symbol": "GABRG2",
"hgnc_id": 4087,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1088G>A",
"hgvs_p": "p.Arg363Gln"
}
],
"clinvar_disease": " 2, 8, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, familial,EPILEPSY,Febrile seizures,not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "not provided|EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2;Febrile seizures, familial, 8",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}