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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: 5-162153176-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=162153176&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 162153176,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000639213.2",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.1236C>T",
"hgvs_p": "p.Tyr412Tyr",
"transcript": "NM_198904.4",
"protein_id": "NP_944494.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 475,
"cds_start": 1236,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1463,
"cdna_end": null,
"cdna_length": 3813,
"mane_select": "ENST00000639213.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.1236C>T",
"hgvs_p": "p.Tyr412Tyr",
"transcript": "ENST00000639213.2",
"protein_id": "ENSP00000491909.2",
"transcript_support_level": 1,
"aa_start": 412,
"aa_end": null,
"aa_length": 475,
"cds_start": 1236,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1463,
"cdna_end": null,
"cdna_length": 3813,
"mane_select": "NM_198904.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.1356C>T",
"hgvs_p": "p.Tyr452Tyr",
"transcript": "ENST00000414552.6",
"protein_id": "ENSP00000410732.2",
"transcript_support_level": 1,
"aa_start": 452,
"aa_end": null,
"aa_length": 515,
"cds_start": 1356,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 1581,
"cdna_end": null,
"cdna_length": 3927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.1212C>T",
"hgvs_p": "p.Tyr404Tyr",
"transcript": "ENST00000639111.2",
"protein_id": "ENSP00000492125.2",
"transcript_support_level": 1,
"aa_start": 404,
"aa_end": null,
"aa_length": 467,
"cds_start": 1212,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 1747,
"cdna_end": null,
"cdna_length": 11548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.1356C>T",
"hgvs_p": "p.Tyr452Tyr",
"transcript": "NM_198903.2",
"protein_id": "NP_944493.2",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 515,
"cds_start": 1356,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 1714,
"cdna_end": null,
"cdna_length": 4077,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.1332C>T",
"hgvs_p": "p.Tyr444Tyr",
"transcript": "NM_001375343.1",
"protein_id": "NP_001362272.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 507,
"cds_start": 1332,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 1867,
"cdna_end": null,
"cdna_length": 4217,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.1332C>T",
"hgvs_p": "p.Tyr444Tyr",
"transcript": "ENST00000361925.9",
"protein_id": "ENSP00000354651.5",
"transcript_support_level": 3,
"aa_start": 444,
"aa_end": null,
"aa_length": 507,
"cds_start": 1332,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 1458,
"cdna_end": null,
"cdna_length": 3767,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.1305C>T",
"hgvs_p": "p.Tyr435Tyr",
"transcript": "ENST00000641017.1",
"protein_id": "ENSP00000493461.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 498,
"cds_start": 1305,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 1305,
"cdna_end": null,
"cdna_length": 3628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.1275C>T",
"hgvs_p": "p.Tyr425Tyr",
"transcript": "NM_001375344.1",
"protein_id": "NP_001362273.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 488,
"cds_start": 1275,
"cds_end": null,
"cds_length": 1467,
"cdna_start": 1810,
"cdna_end": null,
"cdna_length": 4160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.1236C>T",
"hgvs_p": "p.Tyr412Tyr",
"transcript": "ENST00000356592.8",
"protein_id": "ENSP00000349000.4",
"transcript_support_level": 5,
"aa_start": 412,
"aa_end": null,
"aa_length": 475,
"cds_start": 1236,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1237,
"cdna_end": null,
"cdna_length": 3534,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.1233C>T",
"hgvs_p": "p.Tyr411Tyr",
"transcript": "NM_001375341.1",
"protein_id": "NP_001362270.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 474,
"cds_start": 1233,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 1768,
"cdna_end": null,
"cdna_length": 4118,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.1227C>T",
"hgvs_p": "p.Tyr409Tyr",
"transcript": "NM_001375339.1",
"protein_id": "NP_001362268.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 472,
"cds_start": 1227,
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"cds_length": 1419,
"cdna_start": 1762,
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"cdna_length": 4112,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.1212C>T",
"hgvs_p": "p.Tyr404Tyr",
"transcript": "NM_000816.3",
"protein_id": "NP_000807.2",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 467,
"cds_start": 1212,
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"cds_length": 1404,
"cdna_start": 1570,
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"cdna_length": 3933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.1209C>T",
"hgvs_p": "p.Tyr403Tyr",
"transcript": "NM_001375342.1",
"protein_id": "NP_001362271.1",
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"cds_start": 1209,
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"cdna_start": 1744,
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"biotype": null,
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},
{
"aa_ref": "Y",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.1170C>T",
"hgvs_p": "p.Tyr390Tyr",
"transcript": "NM_001375346.1",
"protein_id": "NP_001362275.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 453,
"cds_start": 1170,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 1350,
"cdna_end": null,
"cdna_length": 3700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.1170C>T",
"hgvs_p": "p.Tyr390Tyr",
"transcript": "ENST00000639683.1",
"protein_id": "ENSP00000492581.1",
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"cds_start": 1170,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.1149C>T",
"hgvs_p": "p.Tyr383Tyr",
"transcript": "NM_001375347.1",
"protein_id": "NP_001362276.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 446,
"cds_start": 1149,
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"cds_length": 1341,
"cdna_start": 1306,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.1149C>T",
"hgvs_p": "p.Tyr383Tyr",
"transcript": "ENST00000640985.1",
"protein_id": "ENSP00000492293.1",
"transcript_support_level": 5,
"aa_start": 383,
"aa_end": null,
"aa_length": 446,
"cds_start": 1149,
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"cdna_start": 1250,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.1146C>T",
"hgvs_p": "p.Tyr382Tyr",
"transcript": "NM_001375345.1",
"protein_id": "NP_001362274.1",
"transcript_support_level": null,
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},
{
"aa_ref": "Y",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.1146C>T",
"hgvs_p": "p.Tyr382Tyr",
"transcript": "ENST00000639975.1",
"protein_id": "ENSP00000492096.1",
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"aa_start": 382,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
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"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.951C>T",
"hgvs_p": "p.Tyr317Tyr",
"transcript": "ENST00000638660.1",
"protein_id": "ENSP00000492869.1",
"transcript_support_level": 5,
"aa_start": 317,
"aa_end": null,
"aa_length": 380,
"cds_start": 951,
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"cds_length": 1143,
"cdna_start": 1460,
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"cdna_length": 3799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.927C>T",
"hgvs_p": "p.Tyr309Tyr",
"transcript": "NM_001375349.1",
"protein_id": "NP_001362278.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 372,
"cds_start": 927,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 1868,
"cdna_end": null,
"cdna_length": 4218,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
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}
],
"clinvar_disease": " 2, 8, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, familial,EPILEPSY,Febrile seizures,GABRG2-related disorder,Inborn genetic diseases,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:3 B:1",
"phenotype_combined": "not specified|Febrile seizures, familial, 8;EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2|EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2|not provided|Inborn genetic diseases|GABRG2-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}