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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: 12-122232446-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=122232446&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 122232446,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_022916.6",
"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": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "VPS33A",
"gene_hgnc_id": 18179,
"hgvs_c": "c.1610-19T>G",
"hgvs_p": null,
"transcript": "NM_022916.6",
"protein_id": "NP_075067.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 596,
"cds_start": null,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000267199.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022916.6"
},
{
"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": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "VPS33A",
"gene_hgnc_id": 18179,
"hgvs_c": "c.1610-19T>G",
"hgvs_p": null,
"transcript": "ENST00000267199.9",
"protein_id": "ENSP00000267199.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 596,
"cds_start": null,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022916.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000267199.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ENSG00000256861",
"gene_hgnc_id": null,
"hgvs_c": "n.1493-19T>G",
"hgvs_p": null,
"transcript": "ENST00000535844.1",
"protein_id": "ENSP00000454454.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000535844.1"
},
{
"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": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "VPS33A",
"gene_hgnc_id": 18179,
"hgvs_c": "c.1757-19T>G",
"hgvs_p": null,
"transcript": "ENST00000536212.3",
"protein_id": "ENSP00000439255.3",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 645,
"cds_start": null,
"cds_end": null,
"cds_length": 1938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000536212.3"
},
{
"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": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "VPS33A",
"gene_hgnc_id": 18179,
"hgvs_c": "c.1733-19T>G",
"hgvs_p": null,
"transcript": "ENST00000643696.1",
"protein_id": "ENSP00000494935.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 637,
"cds_start": null,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643696.1"
},
{
"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": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "VPS33A",
"gene_hgnc_id": 18179,
"hgvs_c": "c.1637-19T>G",
"hgvs_p": null,
"transcript": "ENST00000932487.1",
"protein_id": "ENSP00000602546.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 605,
"cds_start": null,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932487.1"
},
{
"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": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "VPS33A",
"gene_hgnc_id": 18179,
"hgvs_c": "c.1634-19T>G",
"hgvs_p": null,
"transcript": "ENST00000883791.1",
"protein_id": "ENSP00000553850.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 604,
"cds_start": null,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883791.1"
},
{
"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": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "VPS33A",
"gene_hgnc_id": 18179,
"hgvs_c": "c.1589-19T>G",
"hgvs_p": null,
"transcript": "ENST00000714045.1",
"protein_id": "ENSP00000519336.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 589,
"cds_start": null,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714045.1"
},
{
"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": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "VPS33A",
"gene_hgnc_id": 18179,
"hgvs_c": "c.1577-19T>G",
"hgvs_p": null,
"transcript": "NM_001351018.2",
"protein_id": "NP_001337947.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 585,
"cds_start": null,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351018.2"
},
{
"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": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "VPS33A",
"gene_hgnc_id": 18179,
"hgvs_c": "c.1562-19T>G",
"hgvs_p": null,
"transcript": "NM_001351019.2",
"protein_id": "NP_001337948.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 580,
"cds_start": null,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351019.2"
},
{
"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": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "VPS33A",
"gene_hgnc_id": 18179,
"hgvs_c": "c.1472-19T>G",
"hgvs_p": null,
"transcript": "ENST00000883790.1",
"protein_id": "ENSP00000553849.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 550,
"cds_start": null,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883790.1"
},
{
"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": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "VPS33A",
"gene_hgnc_id": 18179,
"hgvs_c": "c.1472-19T>G",
"hgvs_p": null,
"transcript": "ENST00000932481.1",
"protein_id": "ENSP00000602540.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 550,
"cds_start": null,
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"cds_length": 1653,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932481.1"
},
{
"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": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "VPS33A",
"gene_hgnc_id": 18179,
"hgvs_c": "c.1424-19T>G",
"hgvs_p": null,
"transcript": "ENST00000714042.1",
"protein_id": "ENSP00000519333.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 534,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714042.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "VPS33A",
"gene_hgnc_id": 18179,
"hgvs_c": "c.1424-19T>G",
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"transcript": "ENST00000714043.1",
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714043.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "VPS33A",
"gene_hgnc_id": 18179,
"hgvs_c": "c.1415-19T>G",
"hgvs_p": null,
"transcript": "ENST00000932486.1",
"protein_id": "ENSP00000602545.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 531,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932486.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "VPS33A",
"gene_hgnc_id": 18179,
"hgvs_c": "c.1355-19T>G",
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"transcript": "ENST00000932488.1",
"protein_id": "ENSP00000602547.1",
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932488.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "VPS33A",
"gene_hgnc_id": 18179,
"hgvs_c": "c.1334-19T>G",
"hgvs_p": null,
"transcript": "ENST00000932483.1",
"protein_id": "ENSP00000602542.1",
"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": "ENST00000932483.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "VPS33A",
"gene_hgnc_id": 18179,
"hgvs_c": "c.1313-19T>G",
"hgvs_p": null,
"transcript": "ENST00000932489.1",
"protein_id": "ENSP00000602548.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 497,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932489.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "VPS33A",
"gene_hgnc_id": 18179,
"hgvs_c": "c.1289-19T>G",
"hgvs_p": null,
"transcript": "NM_001351020.2",
"protein_id": "NP_001337949.1",
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"biotype": "protein_coding",
"feature": "NM_001351020.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "VPS33A",
"gene_hgnc_id": 18179,
"hgvs_c": "c.1289-19T>G",
"hgvs_p": null,
"transcript": "ENST00000883789.1",
"protein_id": "ENSP00000553848.1",
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"biotype": "protein_coding",
"feature": "ENST00000883789.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "VPS33A",
"gene_hgnc_id": 18179,
"hgvs_c": "c.1277-19T>G",
"hgvs_p": null,
"transcript": "ENST00000932484.1",
"protein_id": "ENSP00000602543.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 485,
"cds_start": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932484.1"
},
{
"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": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "VPS33A",
"gene_hgnc_id": 18179,
"hgvs_c": "c.1151-19T>G",
"hgvs_p": null,
"transcript": "ENST00000541169.2",
"protein_id": "ENSP00000495062.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 443,
"cds_start": null,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541169.2"
},
{
"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": 10,
"intron_rank": 9,
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"gene_symbol": "VPS33A",
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"transcript": "ENST00000932482.1",
"protein_id": "ENSP00000602541.1",
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"aa_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000932482.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 6,
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"gene_symbol": "VPS33A",
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"hgvs_c": "c.791-19T>G",
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"transcript": "ENST00000932485.1",
"protein_id": "ENSP00000602544.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 323,
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"cds_length": 972,
"cdna_start": null,
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"cdna_length": null,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932485.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 14,
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"gene_symbol": "VPS33A",
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"hgvs_c": "n.*1571-19T>G",
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"transcript": "ENST00000543633.5",
"protein_id": "ENSP00000442392.1",
"transcript_support_level": 5,
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"aa_end": null,
"aa_length": 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": "nonsense_mediated_decay",
"feature": "ENST00000543633.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 14,
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"gene_symbol": "VPS33A",
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"hgvs_c": "n.*1589-19T>G",
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"transcript": "ENST00000544349.7",
"protein_id": "ENSP00000494419.2",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000544349.7"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"gene_symbol": "VPS33A",
"gene_hgnc_id": 18179,
"hgvs_c": "n.*826-19T>G",
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"transcript": "ENST00000714044.1",
"protein_id": "ENSP00000519335.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000714044.1"
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],
"gene_symbol": "VPS33A",
"gene_hgnc_id": 18179,
"dbsnp": "rs764410291",
"frequency_reference_population": 0.000003121539,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 6.89883e-7,
"gnomad_genomes_af": 0.0000262722,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4399999976158142,
"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": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.781,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_022916.6",
"gene_symbol": "VPS33A",
"hgnc_id": 18179,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1610-19T>G",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000535844.1",
"gene_symbol": "ENSG00000256861",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1493-19T>G",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}