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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: 3-52697536-TCTC-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=52697536&ref=TCTC&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 52697536,
"ref": "TCTC",
"alt": "T",
"effect": "intron_variant",
"transcript": "NM_018446.4",
"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": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GLT8D1",
"gene_hgnc_id": 24870,
"hgvs_c": "c.329+182_329+184delGAG",
"hgvs_p": null,
"transcript": "NM_018446.4",
"protein_id": "NP_060916.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 371,
"cds_start": null,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000266014.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018446.4"
},
{
"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": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GLT8D1",
"gene_hgnc_id": 24870,
"hgvs_c": "c.329+182_329+184delGAG",
"hgvs_p": null,
"transcript": "ENST00000266014.11",
"protein_id": "ENSP00000266014.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 371,
"cds_start": null,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018446.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000266014.11"
},
{
"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": 4,
"intron_rank_end": null,
"gene_symbol": "GLT8D1",
"gene_hgnc_id": 24870,
"hgvs_c": "c.329+182_329+184delGAG",
"hgvs_p": null,
"transcript": "ENST00000394783.7",
"protein_id": "ENSP00000378263.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 371,
"cds_start": null,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394783.7"
},
{
"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": 11,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "GLT8D1",
"gene_hgnc_id": 24870,
"hgvs_c": "c.329+182_329+184delGAG",
"hgvs_p": null,
"transcript": "ENST00000478968.6",
"protein_id": "ENSP00000419612.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 371,
"cds_start": null,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000478968.6"
},
{
"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": 11,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "GLT8D1",
"gene_hgnc_id": 24870,
"hgvs_c": "c.329+182_329+184delGAG",
"hgvs_p": null,
"transcript": "NM_001010983.3",
"protein_id": "NP_001010983.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 371,
"cds_start": null,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001010983.3"
},
{
"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": 11,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "GLT8D1",
"gene_hgnc_id": 24870,
"hgvs_c": "c.329+182_329+184delGAG",
"hgvs_p": null,
"transcript": "NM_001278280.2",
"protein_id": "NP_001265209.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 371,
"cds_start": null,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278280.2"
},
{
"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": 11,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "GLT8D1",
"gene_hgnc_id": 24870,
"hgvs_c": "c.329+182_329+184delGAG",
"hgvs_p": null,
"transcript": "NM_001278281.2",
"protein_id": "NP_001265210.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 371,
"cds_start": null,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278281.2"
},
{
"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": 4,
"intron_rank_end": null,
"gene_symbol": "GLT8D1",
"gene_hgnc_id": 24870,
"hgvs_c": "c.329+182_329+184delGAG",
"hgvs_p": null,
"transcript": "NM_152932.3",
"protein_id": "NP_690909.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 371,
"cds_start": null,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152932.3"
},
{
"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": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GLT8D1",
"gene_hgnc_id": 24870,
"hgvs_c": "c.329+182_329+184delGAG",
"hgvs_p": null,
"transcript": "ENST00000491606.5",
"protein_id": "ENSP00000418853.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 371,
"cds_start": null,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000491606.5"
},
{
"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": 11,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "GLT8D1",
"gene_hgnc_id": 24870,
"hgvs_c": "c.329+182_329+184delGAG",
"hgvs_p": null,
"transcript": "ENST00000858361.1",
"protein_id": "ENSP00000528420.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 371,
"cds_start": null,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858361.1"
},
{
"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": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GLT8D1",
"gene_hgnc_id": 24870,
"hgvs_c": "c.329+182_329+184delGAG",
"hgvs_p": null,
"transcript": "ENST00000858362.1",
"protein_id": "ENSP00000528421.1",
"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": "ENST00000858362.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GLT8D1",
"gene_hgnc_id": 24870,
"hgvs_c": "c.329+182_329+184delGAG",
"hgvs_p": null,
"transcript": "ENST00000858363.1",
"protein_id": "ENSP00000528422.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 371,
"cds_start": null,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000858363.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GLT8D1",
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"hgvs_c": "c.329+182_329+184delGAG",
"hgvs_p": null,
"transcript": "ENST00000858364.1",
"protein_id": "ENSP00000528423.1",
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"cds_start": null,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000858364.1"
},
{
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"strand": false,
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],
"exon_rank": null,
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"intron_rank": 5,
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"gene_symbol": "GLT8D1",
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"biotype": "protein_coding",
"feature": "ENST00000858365.1"
},
{
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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": 5,
"intron_rank_end": null,
"gene_symbol": "GLT8D1",
"gene_hgnc_id": 24870,
"hgvs_c": "c.329+182_329+184delGAG",
"hgvs_p": null,
"transcript": "ENST00000858367.1",
"protein_id": "ENSP00000528426.1",
"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": "ENST00000858367.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 7,
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"gene_symbol": "GLT8D1",
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"hgvs_c": "c.329+182_329+184delGAG",
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"transcript": "ENST00000858368.1",
"protein_id": "ENSP00000528427.1",
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"cdna_start": null,
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"feature": "ENST00000858368.1"
},
{
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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": 11,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "GLT8D1",
"gene_hgnc_id": 24870,
"hgvs_c": "c.329+182_329+184delGAG",
"hgvs_p": null,
"transcript": "ENST00000858370.1",
"protein_id": "ENSP00000528429.1",
"transcript_support_level": 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",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "GLT8D1",
"gene_hgnc_id": 24870,
"hgvs_c": "c.329+182_329+184delGAG",
"hgvs_p": null,
"transcript": "ENST00000858371.1",
"protein_id": "ENSP00000528430.1",
"transcript_support_level": null,
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},
{
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"strand": false,
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],
"exon_rank": null,
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"intron_rank": 5,
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"gene_symbol": "GLT8D1",
"gene_hgnc_id": 24870,
"hgvs_c": "c.329+182_329+184delGAG",
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"protein_id": "ENSP00000528431.1",
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"biotype": "protein_coding",
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},
{
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"protein_coding": true,
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"consequences": [
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],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GLT8D1",
"gene_hgnc_id": 24870,
"hgvs_c": "c.329+182_329+184delGAG",
"hgvs_p": null,
"transcript": "ENST00000858373.1",
"protein_id": "ENSP00000528432.1",
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"feature": "ENST00000858373.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "GLT8D1",
"gene_hgnc_id": 24870,
"hgvs_c": "c.329+182_329+184delGAG",
"hgvs_p": null,
"transcript": "ENST00000858374.1",
"protein_id": "ENSP00000528433.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 371,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858374.1"
},
{
"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": 11,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "GLT8D1",
"gene_hgnc_id": 24870,
"hgvs_c": "c.329+182_329+184delGAG",
"hgvs_p": null,
"transcript": "ENST00000858375.1",
"protein_id": "ENSP00000528434.1",
"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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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858375.1"
},
{
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"canonical": false,
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{
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"protein_coding": false,
"strand": false,
"consequences": [
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],
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"exon_count": 8,
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"gene_symbol": "GLT8D1",
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"transcript": "ENST00000484163.5",
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"biotype": "retained_intron",
"feature": "ENST00000484163.5"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"gene_symbol": "GLT8D1",
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{
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"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
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"gene_symbol": "GLT8D1",
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"hgvs_c": "c.*243_*245delGAG",
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"transcript": "ENST00000497436.5",
"protein_id": "ENSP00000420286.1",
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"biotype": "protein_coding",
"feature": "ENST00000497436.5"
},
{
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"protein_coding": false,
"strand": true,
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"upstream_gene_variant"
],
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"exon_count": 7,
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"gene_symbol": "GLT8D1",
"gene_hgnc_id": 24870,
"hgvs_c": "n.-5_-3delGAG",
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"transcript": "ENST00000463827.1",
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"biotype": "pseudogene",
"feature": "ENST00000463827.1"
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],
"gene_symbol": "GLT8D1",
"gene_hgnc_id": 24870,
"dbsnp": "rs61309926",
"frequency_reference_population": 0.012033605,
"hom_count_reference_population": 374,
"allele_count_reference_population": 7116,
"gnomad_exomes_af": 0.00470744,
"gnomad_genomes_af": 0.0331621,
"gnomad_exomes_ac": 2067,
"gnomad_genomes_ac": 5049,
"gnomad_exomes_homalt": 101,
"gnomad_genomes_homalt": 273,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.624,
"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": -10,
"acmg_classification": "Benign",
"acmg_criteria": "BP6_Moderate,BA1",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP6_Moderate",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_018446.4",
"gene_symbol": "GLT8D1",
"hgnc_id": 24870,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.329+182_329+184delGAG",
"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
}