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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: 5-162093965-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=162093965&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 162093965,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000639213.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.245G>C",
"hgvs_p": "p.Arg82Pro",
"transcript": "NM_198904.4",
"protein_id": "NP_944494.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 475,
"cds_start": 245,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 472,
"cdna_end": null,
"cdna_length": 3813,
"mane_select": "ENST00000639213.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.245G>C",
"hgvs_p": "p.Arg82Pro",
"transcript": "ENST00000639213.2",
"protein_id": "ENSP00000491909.2",
"transcript_support_level": 1,
"aa_start": 82,
"aa_end": null,
"aa_length": 475,
"cds_start": 245,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 472,
"cdna_end": null,
"cdna_length": 3813,
"mane_select": "NM_198904.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.245G>C",
"hgvs_p": "p.Arg82Pro",
"transcript": "ENST00000414552.6",
"protein_id": "ENSP00000410732.2",
"transcript_support_level": 1,
"aa_start": 82,
"aa_end": null,
"aa_length": 515,
"cds_start": 245,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 470,
"cdna_end": null,
"cdna_length": 3927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.245G>C",
"hgvs_p": "p.Arg82Pro",
"transcript": "ENST00000639111.2",
"protein_id": "ENSP00000492125.2",
"transcript_support_level": 1,
"aa_start": 82,
"aa_end": null,
"aa_length": 467,
"cds_start": 245,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 780,
"cdna_end": null,
"cdna_length": 11548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.245G>C",
"hgvs_p": "p.Arg82Pro",
"transcript": "NM_198903.2",
"protein_id": "NP_944493.2",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 515,
"cds_start": 245,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 603,
"cdna_end": null,
"cdna_length": 4077,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.245G>C",
"hgvs_p": "p.Arg82Pro",
"transcript": "NM_001375343.1",
"protein_id": "NP_001362272.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 507,
"cds_start": 245,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 780,
"cdna_end": null,
"cdna_length": 4217,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.245G>C",
"hgvs_p": "p.Arg82Pro",
"transcript": "ENST00000361925.9",
"protein_id": "ENSP00000354651.5",
"transcript_support_level": 3,
"aa_start": 82,
"aa_end": null,
"aa_length": 507,
"cds_start": 245,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 371,
"cdna_end": null,
"cdna_length": 3767,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.245G>C",
"hgvs_p": "p.Arg82Pro",
"transcript": "ENST00000641017.1",
"protein_id": "ENSP00000493461.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 498,
"cds_start": 245,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 245,
"cdna_end": null,
"cdna_length": 3628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.245G>C",
"hgvs_p": "p.Arg82Pro",
"transcript": "NM_001375344.1",
"protein_id": "NP_001362273.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 488,
"cds_start": 245,
"cds_end": null,
"cds_length": 1467,
"cdna_start": 780,
"cdna_end": null,
"cdna_length": 4160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.206G>C",
"hgvs_p": "p.Arg69Pro",
"transcript": "ENST00000356592.8",
"protein_id": "ENSP00000349000.4",
"transcript_support_level": 5,
"aa_start": 69,
"aa_end": null,
"aa_length": 475,
"cds_start": 206,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 207,
"cdna_end": null,
"cdna_length": 3534,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.245G>C",
"hgvs_p": "p.Arg82Pro",
"transcript": "NM_001375341.1",
"protein_id": "NP_001362270.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 474,
"cds_start": 245,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 780,
"cdna_end": null,
"cdna_length": 4118,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.236G>C",
"hgvs_p": "p.Arg79Pro",
"transcript": "NM_001375339.1",
"protein_id": "NP_001362268.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 472,
"cds_start": 236,
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"cds_length": 1419,
"cdna_start": 771,
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"cdna_length": 4112,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.245G>C",
"hgvs_p": "p.Arg82Pro",
"transcript": "NM_000816.3",
"protein_id": "NP_000807.2",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 467,
"cds_start": 245,
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"cdna_start": 603,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.245G>C",
"hgvs_p": "p.Arg82Pro",
"transcript": "NM_001375342.1",
"protein_id": "NP_001362271.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": 3,
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"exon_count": 11,
"intron_rank": null,
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"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.179G>C",
"hgvs_p": "p.Arg60Pro",
"transcript": "NM_001375346.1",
"protein_id": "NP_001362275.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 453,
"cds_start": 179,
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"cds_length": 1362,
"cdna_start": 359,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
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"exon_count": 11,
"intron_rank": null,
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"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.179G>C",
"hgvs_p": "p.Arg60Pro",
"transcript": "ENST00000639683.1",
"protein_id": "ENSP00000492581.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
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"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.158G>C",
"hgvs_p": "p.Arg53Pro",
"transcript": "NM_001375347.1",
"protein_id": "NP_001362276.1",
"transcript_support_level": null,
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"mane_select": null,
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"feature": null
},
{
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"strand": true,
"consequences": [
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],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.158G>C",
"hgvs_p": "p.Arg53Pro",
"transcript": "ENST00000640985.1",
"protein_id": "ENSP00000492293.1",
"transcript_support_level": 5,
"aa_start": 53,
"aa_end": null,
"aa_length": 446,
"cds_start": 158,
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"cdna_start": 259,
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"mane_select": null,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": 3,
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"intron_rank": null,
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"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.179G>C",
"hgvs_p": "p.Arg60Pro",
"transcript": "NM_001375345.1",
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},
{
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],
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"intron_rank": null,
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"gene_symbol": "GABRG2",
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"hgvs_c": "c.179G>C",
"hgvs_p": "p.Arg60Pro",
"transcript": "ENST00000639975.1",
"protein_id": "ENSP00000492096.1",
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},
{
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],
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"intron_rank": null,
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"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.245G>C",
"hgvs_p": "p.Arg82Pro",
"transcript": "ENST00000638772.1",
"protein_id": "ENSP00000491557.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.245G>C",
"hgvs_p": "p.Arg82Pro",
"transcript": "ENST00000639384.1",
"protein_id": "ENSP00000491240.1",
"transcript_support_level": 5,
"aa_start": 82,
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"aa_length": 385,
"cds_start": 245,
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"cdna_start": 734,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRG2",
"gene_hgnc_id": 4087,
"hgvs_c": "c.245G>C",
"hgvs_p": "p.Arg82Pro",
"transcript": "NM_001375340.1",
"protein_id": "NP_001362269.1",
"transcript_support_level": null,
"aa_start": 82,
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