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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: 2-101018825-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=101018825&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 101018825,
"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": 17,
"intron_rank_end": null,
"gene_symbol": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.2827+2856G>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": 17,
"intron_rank_end": null,
"gene_symbol": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.2827+2856G>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": 17,
"intron_rank_end": null,
"gene_symbol": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.2782+2856G>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": 17,
"intron_rank_end": null,
"gene_symbol": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.2836+2856G>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": 17,
"intron_rank_end": null,
"gene_symbol": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.2806+2856G>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": 17,
"intron_rank_end": null,
"gene_symbol": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.2782+2856G>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": 17,
"intron_rank_end": null,
"gene_symbol": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.2779+2856G>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": 17,
"intron_rank_end": null,
"gene_symbol": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.2782+2856G>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": 16,
"intron_rank_end": null,
"gene_symbol": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.2722+2856G>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": 17,
"intron_rank_end": null,
"gene_symbol": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.2695+2856G>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": 16,
"intron_rank_end": null,
"gene_symbol": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.2677+2856G>A",
"hgvs_p": null,
"transcript": "ENST00000870703.1",
"protein_id": "ENSP00000540762.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1105,
"cds_start": null,
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"cds_length": 3318,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870703.1"
},
{
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"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": 16,
"intron_rank_end": null,
"gene_symbol": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.2671+2856G>A",
"hgvs_p": null,
"transcript": "ENST00000870706.1",
"protein_id": "ENSP00000540765.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1103,
"cds_start": null,
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"cds_length": 3312,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870706.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.2560+2856G>A",
"hgvs_p": null,
"transcript": "ENST00000870705.1",
"protein_id": "ENSP00000540764.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1066,
"cds_start": null,
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"cds_length": 3201,
"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,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 15,
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"gene_symbol": "TBC1D8",
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"hgvs_c": "c.2494+2856G>A",
"hgvs_p": null,
"transcript": "ENST00000870704.1",
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870704.1"
},
{
"aa_ref": null,
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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": 15,
"intron_rank_end": null,
"gene_symbol": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.2479+2856G>A",
"hgvs_p": null,
"transcript": "ENST00000958229.1",
"protein_id": "ENSP00000628288.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1039,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958229.1"
},
{
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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": 15,
"intron_rank_end": null,
"gene_symbol": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.2449+2856G>A",
"hgvs_p": null,
"transcript": "ENST00000870707.1",
"protein_id": "ENSP00000540766.1",
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870707.1"
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.2416+2856G>A",
"hgvs_p": null,
"transcript": "ENST00000920766.1",
"protein_id": "ENSP00000590825.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1018,
"cds_start": null,
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"cds_length": 3057,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920766.1"
},
{
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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": 15,
"intron_rank_end": null,
"gene_symbol": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.2404+2856G>A",
"hgvs_p": null,
"transcript": "ENST00000958231.1",
"protein_id": "ENSP00000628290.1",
"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": "ENST00000958231.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "TBC1D8",
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"hgvs_c": "c.2149+2856G>A",
"hgvs_p": null,
"transcript": "ENST00000958230.1",
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"feature": "ENST00000958230.1"
},
{
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"canonical": false,
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.2104+2856G>A",
"hgvs_p": null,
"transcript": "ENST00000870708.1",
"protein_id": "ENSP00000540767.1",
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"biotype": "protein_coding",
"feature": "ENST00000870708.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "c.1507+2856G>A",
"hgvs_p": null,
"transcript": "ENST00000958228.1",
"protein_id": "ENSP00000628287.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 715,
"cds_start": null,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958228.1"
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RPL31",
"gene_hgnc_id": 10334,
"hgvs_c": "c.347-173C>T",
"hgvs_p": null,
"transcript": "NM_001098577.3",
"protein_id": "NP_001092047.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 128,
"cds_start": null,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001098577.3"
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RPL31",
"gene_hgnc_id": 10334,
"hgvs_c": "c.347-173C>T",
"hgvs_p": null,
"transcript": "ENST00000409028.8",
"protein_id": "ENSP00000386717.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 128,
"cds_start": null,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409028.8"
},
{
"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": 4,
"intron_rank": 3,
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"gene_symbol": "RPL31",
"gene_hgnc_id": 10334,
"hgvs_c": "c.308-4800C>T",
"hgvs_p": null,
"transcript": "ENST00000441435.1",
"protein_id": "ENSP00000408172.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 107,
"cds_start": null,
"cds_end": null,
"cds_length": 324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000441435.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "n.159+2856G>A",
"hgvs_p": null,
"transcript": "ENST00000494011.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000494011.1"
},
{
"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": 19,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "TBC1D8",
"gene_hgnc_id": 17791,
"hgvs_c": "n.2793+2856G>A",
"hgvs_p": null,
"transcript": "NR_138475.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_138475.2"
}
],
"gene_symbol": "TBC1D8",
"gene_hgnc_id": 17791,
"dbsnp": "rs17025189",
"frequency_reference_population": 0.029873595,
"hom_count_reference_population": 246,
"allele_count_reference_population": 4547,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0298736,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 4547,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 246,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8899999856948853,
"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": -0.89,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.181,
"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": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BA1",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001330348.2",
"gene_symbol": "TBC1D8",
"hgnc_id": 17791,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2827+2856G>A",
"hgvs_p": null
},
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001098577.3",
"gene_symbol": "RPL31",
"hgnc_id": 10334,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.347-173C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}