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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: 21-39420724-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=39420724&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 39420724,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000288350.8",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCA5L",
"gene_hgnc_id": 1255,
"hgvs_c": "c.957C>A",
"hgvs_p": "p.His319Gln",
"transcript": "NM_152505.4",
"protein_id": "NP_689718.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 670,
"cds_start": 957,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 1323,
"cdna_end": null,
"cdna_length": 2533,
"mane_select": "ENST00000288350.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCA5L",
"gene_hgnc_id": 1255,
"hgvs_c": "c.957C>A",
"hgvs_p": "p.His319Gln",
"transcript": "ENST00000288350.8",
"protein_id": "ENSP00000288350.3",
"transcript_support_level": 5,
"aa_start": 319,
"aa_end": null,
"aa_length": 670,
"cds_start": 957,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 1323,
"cdna_end": null,
"cdna_length": 2533,
"mane_select": "NM_152505.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCA5L",
"gene_hgnc_id": 1255,
"hgvs_c": "c.957C>A",
"hgvs_p": "p.His319Gln",
"transcript": "ENST00000358268.6",
"protein_id": "ENSP00000351008.2",
"transcript_support_level": 1,
"aa_start": 319,
"aa_end": null,
"aa_length": 670,
"cds_start": 957,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 1486,
"cdna_end": null,
"cdna_length": 2564,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCA5L",
"gene_hgnc_id": 1255,
"hgvs_c": "c.957C>A",
"hgvs_p": "p.His319Gln",
"transcript": "ENST00000380671.6",
"protein_id": "ENSP00000370046.2",
"transcript_support_level": 1,
"aa_start": 319,
"aa_end": null,
"aa_length": 670,
"cds_start": 957,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 986,
"cdna_end": null,
"cdna_length": 2080,
"mane_select": null,
"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": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GET1-SH3BGR",
"gene_hgnc_id": 54635,
"hgvs_c": "c.336+28888G>T",
"hgvs_p": null,
"transcript": "ENST00000647779.1",
"protein_id": "ENSP00000497977.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 273,
"cds_start": -4,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1328,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCA5L",
"gene_hgnc_id": 1255,
"hgvs_c": "c.957C>A",
"hgvs_p": "p.His319Gln",
"transcript": "NM_001384285.1",
"protein_id": "NP_001371214.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 670,
"cds_start": 957,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 1253,
"cdna_end": null,
"cdna_length": 2463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCA5L",
"gene_hgnc_id": 1255,
"hgvs_c": "c.957C>A",
"hgvs_p": "p.His319Gln",
"transcript": "NM_001384286.1",
"protein_id": "NP_001371215.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 670,
"cds_start": 957,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 1256,
"cdna_end": null,
"cdna_length": 2466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCA5L",
"gene_hgnc_id": 1255,
"hgvs_c": "c.957C>A",
"hgvs_p": "p.His319Gln",
"transcript": "NM_001384287.1",
"protein_id": "NP_001371216.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 670,
"cds_start": 957,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 1225,
"cdna_end": null,
"cdna_length": 2435,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCA5L",
"gene_hgnc_id": 1255,
"hgvs_c": "c.957C>A",
"hgvs_p": "p.His319Gln",
"transcript": "NM_001384288.1",
"protein_id": "NP_001371217.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 670,
"cds_start": 957,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 1598,
"cdna_end": null,
"cdna_length": 2808,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCA5L",
"gene_hgnc_id": 1255,
"hgvs_c": "c.957C>A",
"hgvs_p": "p.His319Gln",
"transcript": "NM_001384289.1",
"protein_id": "NP_001371218.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 670,
"cds_start": 957,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 1439,
"cdna_end": null,
"cdna_length": 2649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCA5L",
"gene_hgnc_id": 1255,
"hgvs_c": "c.957C>A",
"hgvs_p": "p.His319Gln",
"transcript": "NM_001384291.1",
"protein_id": "NP_001371220.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 670,
"cds_start": 957,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 1531,
"cdna_end": null,
"cdna_length": 2741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCA5L",
"gene_hgnc_id": 1255,
"hgvs_c": "c.567C>A",
"hgvs_p": "p.His189Gln",
"transcript": "NM_001384292.1",
"protein_id": "NP_001371221.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 540,
"cds_start": 567,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 770,
"cdna_end": null,
"cdna_length": 1980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCA5L",
"gene_hgnc_id": 1255,
"hgvs_c": "c.567C>A",
"hgvs_p": "p.His189Gln",
"transcript": "NM_001384293.1",
"protein_id": "NP_001371222.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 540,
"cds_start": 567,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 991,
"cdna_end": null,
"cdna_length": 2201,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCA5L",
"gene_hgnc_id": 1255,
"hgvs_c": "c.567C>A",
"hgvs_p": "p.His189Gln",
"transcript": "NM_001384294.1",
"protein_id": "NP_001371223.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
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"cds_start": 567,
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"cdna_start": 756,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "H",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCA5L",
"gene_hgnc_id": 1255,
"hgvs_c": "c.567C>A",
"hgvs_p": "p.His189Gln",
"transcript": "NM_001384295.1",
"protein_id": "NP_001371224.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 540,
"cds_start": 567,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 837,
"cdna_end": null,
"cdna_length": 2047,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCA5L",
"gene_hgnc_id": 1255,
"hgvs_c": "c.567C>A",
"hgvs_p": "p.His189Gln",
"transcript": "NM_001384296.1",
"protein_id": "NP_001371225.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
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"cds_start": 567,
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"cdna_start": 924,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCA5L",
"gene_hgnc_id": 1255,
"hgvs_c": "c.567C>A",
"hgvs_p": "p.His189Gln",
"transcript": "NM_001384303.1",
"protein_id": "NP_001371232.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 275,
"cds_start": 567,
"cds_end": null,
"cds_length": 828,
"cdna_start": 991,
"cdna_end": null,
"cdna_length": 1532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCA5L",
"gene_hgnc_id": 1255,
"hgvs_c": "c.1104C>A",
"hgvs_p": "p.His368Gln",
"transcript": "XM_011529458.2",
"protein_id": "XP_011527760.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 719,
"cds_start": 1104,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 1928,
"cdna_end": null,
"cdna_length": 3138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCA5L",
"gene_hgnc_id": 1255,
"hgvs_c": "c.1104C>A",
"hgvs_p": "p.His368Gln",
"transcript": "XM_011529459.2",
"protein_id": "XP_011527761.1",
"transcript_support_level": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "H",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCA5L",
"gene_hgnc_id": 1255,
"hgvs_c": "c.1104C>A",
"hgvs_p": "p.His368Gln",
"transcript": "XM_011529460.2",
"protein_id": "XP_011527762.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
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"cds_start": 1104,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "H",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCA5L",
"gene_hgnc_id": 1255,
"hgvs_c": "c.1104C>A",
"hgvs_p": "p.His368Gln",
"transcript": "XM_011529461.2",
"protein_id": "XP_011527763.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
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"cds_start": 1104,
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"cdna_start": 1762,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCA5L",
"gene_hgnc_id": 1255,
"hgvs_c": "c.1104C>A",
"hgvs_p": "p.His368Gln",
"transcript": "XM_011529462.2",
"protein_id": "XP_011527764.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 719,
"cds_start": 1104,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 1403,
"cdna_end": null,
"cdna_length": 2613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LCA5L",
"gene_hgnc_id": 1255,
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],
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": -2,
"acmg_classification": "Likely_benign",
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{
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"BP4_Strong"
],
"verdict": "Likely_benign",
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{
"score": -2,
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"criteria": [
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"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000647779.1",
"gene_symbol": "GET1-SH3BGR",
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"effects": [
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],
"inheritance_mode": "",
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},
{
"score": -2,
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"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000478273.5",
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"effects": [
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],
"inheritance_mode": "",
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}