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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: 2-101113826-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=101113826&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 101113826,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "NM_001330348.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.128-23462G>A",
"hgvs_p": null,
"transcript": "NM_001330348.2",
"protein_id": "NP_001317277.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1155,
"cds_start": null,
"cds_end": null,
"cds_length": 3468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000409318.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330348.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.128-23462G>A",
"hgvs_p": null,
"transcript": "ENST00000409318.2",
"protein_id": "ENSP00000386856.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1155,
"cds_start": null,
"cds_end": null,
"cds_length": 3468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001330348.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409318.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.128-23462G>A",
"hgvs_p": null,
"transcript": "ENST00000376840.8",
"protein_id": "ENSP00000366036.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1140,
"cds_start": null,
"cds_end": null,
"cds_length": 3423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376840.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.128-23462G>A",
"hgvs_p": null,
"transcript": "ENST00000870702.1",
"protein_id": "ENSP00000540761.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1158,
"cds_start": null,
"cds_end": null,
"cds_length": 3477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870702.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.128-23462G>A",
"hgvs_p": null,
"transcript": "ENST00000870709.1",
"protein_id": "ENSP00000540768.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1148,
"cds_start": null,
"cds_end": null,
"cds_length": 3447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870709.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.128-23462G>A",
"hgvs_p": null,
"transcript": "NM_001102426.3",
"protein_id": "NP_001095896.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1140,
"cds_start": null,
"cds_end": null,
"cds_length": 3423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001102426.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.128-23462G>A",
"hgvs_p": null,
"transcript": "ENST00000920764.1",
"protein_id": "ENSP00000590823.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1139,
"cds_start": null,
"cds_end": null,
"cds_length": 3420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920764.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.128-23462G>A",
"hgvs_p": null,
"transcript": "ENST00000870710.1",
"protein_id": "ENSP00000540769.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1135,
"cds_start": null,
"cds_end": null,
"cds_length": 3408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870710.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.128-23462G>A",
"hgvs_p": null,
"transcript": "ENST00000958232.1",
"protein_id": "ENSP00000628291.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1120,
"cds_start": null,
"cds_end": null,
"cds_length": 3363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958232.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.128-23462G>A",
"hgvs_p": null,
"transcript": "ENST00000920765.1",
"protein_id": "ENSP00000590824.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1111,
"cds_start": null,
"cds_end": null,
"cds_length": 3336,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920765.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.128-23462G>A",
"hgvs_p": null,
"transcript": "ENST00000870703.1",
"protein_id": "ENSP00000540762.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"feature": "ENST00000870703.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.127+37301G>A",
"hgvs_p": null,
"transcript": "ENST00000870706.1",
"protein_id": "ENSP00000540765.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000870706.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TBC1D8",
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"hgvs_c": "c.128-23462G>A",
"hgvs_p": null,
"transcript": "ENST00000870705.1",
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"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000870705.1"
},
{
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"canonical": false,
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "TBC1D8",
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"hgvs_c": "c.128-23462G>A",
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"biotype": "protein_coding",
"feature": "ENST00000870704.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 1,
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"gene_symbol": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.128-23462G>A",
"hgvs_p": null,
"transcript": "ENST00000958229.1",
"protein_id": "ENSP00000628288.1",
"transcript_support_level": null,
"aa_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000958229.1"
},
{
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"strand": false,
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "TBC1D8",
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"hgvs_c": "c.128-23462G>A",
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"transcript": "ENST00000870707.1",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000870707.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.128-23462G>A",
"hgvs_p": null,
"transcript": "ENST00000920766.1",
"protein_id": "ENSP00000590825.1",
"transcript_support_level": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000920766.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.127+37301G>A",
"hgvs_p": null,
"transcript": "ENST00000958231.1",
"protein_id": "ENSP00000628290.1",
"transcript_support_level": null,
"aa_start": null,
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"feature": "ENST00000958231.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 1,
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"gene_symbol": "TBC1D8",
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"hgvs_c": "c.128-23462G>A",
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"feature": "ENST00000958230.1"
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 1,
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"gene_symbol": "TBC1D8",
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"hgvs_c": "c.128-23462G>A",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
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"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.128-23462G>A",
"hgvs_p": null,
"transcript": "ENST00000958228.1",
"protein_id": "ENSP00000628287.1",
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"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958228.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "n.450-23462G>A",
"hgvs_p": null,
"transcript": "ENST00000463469.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
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"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000463469.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"gene_symbol": "TBC1D8",
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"transcript": "NR_138475.2",
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"aa_start": null,
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"cds_start": null,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_138475.2"
}
],
"gene_symbol": "TBC1D8",
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"dbsnp": "rs6543018",
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"hom_count_reference_population": 31027,
"allele_count_reference_population": 96884,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.637202,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 96884,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 31027,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.800000011920929,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.8,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.977,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001330348.2",
"gene_symbol": "TBC1D8",
"hgnc_id": 17791,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.128-23462G>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}