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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: 8-123110274-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=123110274&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 123110274,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000287380.6",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "TBC1D31",
"gene_hgnc_id": 30888,
"hgvs_c": "c.1436+654A>C",
"hgvs_p": null,
"transcript": "NM_145647.4",
"protein_id": "NP_663622.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1066,
"cds_start": -4,
"cds_end": null,
"cds_length": 3201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3478,
"mane_select": "ENST00000287380.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "TBC1D31",
"gene_hgnc_id": 30888,
"hgvs_c": "c.1436+654A>C",
"hgvs_p": null,
"transcript": "ENST00000287380.6",
"protein_id": "ENSP00000287380.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1066,
"cds_start": -4,
"cds_end": null,
"cds_length": 3201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3478,
"mane_select": "NM_145647.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "TBC1D31",
"gene_hgnc_id": 30888,
"hgvs_c": "c.1436+654A>C",
"hgvs_p": null,
"transcript": "ENST00000327098.9",
"protein_id": "ENSP00000312701.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 970,
"cds_start": -4,
"cds_end": null,
"cds_length": 2913,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2985,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "TBC1D31",
"gene_hgnc_id": 30888,
"hgvs_c": "c.1121+654A>C",
"hgvs_p": null,
"transcript": "ENST00000522420.5",
"protein_id": "ENSP00000429334.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 961,
"cds_start": -4,
"cds_end": null,
"cds_length": 2886,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "TBC1D31",
"gene_hgnc_id": 30888,
"hgvs_c": "c.1406+654A>C",
"hgvs_p": null,
"transcript": "NM_001363149.1",
"protein_id": "NP_001350078.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1056,
"cds_start": -4,
"cds_end": null,
"cds_length": 3171,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3521,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "TBC1D31",
"gene_hgnc_id": 30888,
"hgvs_c": "c.1436+654A>C",
"hgvs_p": null,
"transcript": "NM_001363150.1",
"protein_id": "NP_001350079.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1035,
"cds_start": -4,
"cds_end": null,
"cds_length": 3108,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "TBC1D31",
"gene_hgnc_id": 30888,
"hgvs_c": "c.1436+654A>C",
"hgvs_p": null,
"transcript": "NM_001363148.1",
"protein_id": "NP_001350077.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1001,
"cds_start": -4,
"cds_end": null,
"cds_length": 3006,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "TBC1D31",
"gene_hgnc_id": 30888,
"hgvs_c": "c.1436+654A>C",
"hgvs_p": null,
"transcript": "NM_001363151.2",
"protein_id": "NP_001350080.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 983,
"cds_start": -4,
"cds_end": null,
"cds_length": 2952,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3034,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "TBC1D31",
"gene_hgnc_id": 30888,
"hgvs_c": "c.1436+654A>C",
"hgvs_p": null,
"transcript": "NM_001145088.2",
"protein_id": "NP_001138560.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 970,
"cds_start": -4,
"cds_end": null,
"cds_length": 2913,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3190,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "TBC1D31",
"gene_hgnc_id": 30888,
"hgvs_c": "c.1121+654A>C",
"hgvs_p": null,
"transcript": "NM_001330606.2",
"protein_id": "NP_001317535.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 961,
"cds_start": -4,
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"cds_length": 2886,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "TBC1D31",
"gene_hgnc_id": 30888,
"hgvs_c": "c.1067+654A>C",
"hgvs_p": null,
"transcript": "ENST00000521676.5",
"protein_id": "ENSP00000430628.1",
"transcript_support_level": 5,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 9,
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"gene_symbol": "TBC1D31",
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"hgvs_c": "c.1121+654A>C",
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"transcript": "NM_001363152.1",
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 10,
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"gene_symbol": "TBC1D31",
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"hgvs_c": "c.1436+654A>C",
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"transcript": "NM_001363153.1",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 9,
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"gene_symbol": "TBC1D31",
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"hgvs_c": "c.1121+654A>C",
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"transcript": "NM_001363155.1",
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},
{
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],
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"gene_symbol": "TBC1D31",
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"hgvs_c": "c.1121+654A>C",
"hgvs_p": null,
"transcript": "NM_001363154.1",
"protein_id": "NP_001350083.1",
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},
{
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"protein_coding": true,
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"consequences": [
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],
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"gene_symbol": "TBC1D31",
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"hgvs_c": "c.335+654A>C",
"hgvs_p": null,
"transcript": "ENST00000518805.5",
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},
{
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],
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"gene_symbol": "TBC1D31",
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"hgvs_c": "c.70+654A>C",
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"transcript": "NM_001363156.1",
"protein_id": "NP_001350085.1",
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},
{
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"consequences": [
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],
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"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TBC1D31",
"gene_hgnc_id": 30888,
"hgvs_c": "n.209+654A>C",
"hgvs_p": null,
"transcript": "ENST00000518577.1",
"protein_id": "ENSP00000432064.1",
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"aa_start": null,
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},
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"strand": true,
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],
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"intron_rank": 9,
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"gene_symbol": "TBC1D31",
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"hgvs_c": "n.*1077+654A>C",
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"transcript": "ENST00000524307.5",
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],
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"gene_symbol": "TBC1D31",
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"hgvs_c": "c.1436+654A>C",
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},
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],
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"gene_symbol": "TBC1D31",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
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"exon_count": 21,
"intron_rank": 10,
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"gene_symbol": "TBC1D31",
"gene_hgnc_id": 30888,
"hgvs_c": "c.1406+654A>C",
"hgvs_p": null,
"transcript": "XM_047422425.1",
"protein_id": "XP_047278381.1",
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 21,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "TBC1D31",
"gene_hgnc_id": 30888,
"hgvs_c": "c.1436+654A>C",
"hgvs_p": null,
"transcript": "XM_005251104.2",
"protein_id": "XP_005251161.1",
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