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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: X-53539664-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=53539664&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 53539664,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000262854.11",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 75,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.11625G>A",
"hgvs_p": "p.Ala3875Ala",
"transcript": "NM_031407.7",
"protein_id": "NP_113584.3",
"transcript_support_level": null,
"aa_start": 3875,
"aa_end": null,
"aa_length": 4374,
"cds_start": 11625,
"cds_end": null,
"cds_length": 13125,
"cdna_start": 12018,
"cdna_end": null,
"cdna_length": 14731,
"mane_select": "ENST00000262854.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 75,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.11625G>A",
"hgvs_p": "p.Ala3875Ala",
"transcript": "ENST00000262854.11",
"protein_id": "ENSP00000262854.6",
"transcript_support_level": 1,
"aa_start": 3875,
"aa_end": null,
"aa_length": 4374,
"cds_start": 11625,
"cds_end": null,
"cds_length": 13125,
"cdna_start": 12018,
"cdna_end": null,
"cdna_length": 14731,
"mane_select": "NM_031407.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 74,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.11625G>A",
"hgvs_p": "p.Ala3875Ala",
"transcript": "NM_001441057.1",
"protein_id": "NP_001427986.1",
"transcript_support_level": null,
"aa_start": 3875,
"aa_end": null,
"aa_length": 4374,
"cds_start": 11625,
"cds_end": null,
"cds_length": 13125,
"cdna_start": 11915,
"cdna_end": null,
"cdna_length": 14628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 74,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.11625G>A",
"hgvs_p": "p.Ala3875Ala",
"transcript": "ENST00000342160.7",
"protein_id": "ENSP00000340648.3",
"transcript_support_level": 5,
"aa_start": 3875,
"aa_end": null,
"aa_length": 4374,
"cds_start": 11625,
"cds_end": null,
"cds_length": 13125,
"cdna_start": 12083,
"cdna_end": null,
"cdna_length": 14796,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 75,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.11622G>A",
"hgvs_p": "p.Ala3874Ala",
"transcript": "NM_001441051.1",
"protein_id": "NP_001427980.1",
"transcript_support_level": null,
"aa_start": 3874,
"aa_end": null,
"aa_length": 4373,
"cds_start": 11622,
"cds_end": null,
"cds_length": 13122,
"cdna_start": 12015,
"cdna_end": null,
"cdna_length": 14728,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 74,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.11622G>A",
"hgvs_p": "p.Ala3874Ala",
"transcript": "NM_001441056.1",
"protein_id": "NP_001427985.1",
"transcript_support_level": null,
"aa_start": 3874,
"aa_end": null,
"aa_length": 4373,
"cds_start": 11622,
"cds_end": null,
"cds_length": 13122,
"cdna_start": 12047,
"cdna_end": null,
"cdna_length": 14760,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 75,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.11601G>A",
"hgvs_p": "p.Ala3867Ala",
"transcript": "NM_001441050.1",
"protein_id": "NP_001427979.1",
"transcript_support_level": null,
"aa_start": 3867,
"aa_end": null,
"aa_length": 4366,
"cds_start": 11601,
"cds_end": null,
"cds_length": 13101,
"cdna_start": 11994,
"cdna_end": null,
"cdna_length": 14707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 74,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.11601G>A",
"hgvs_p": "p.Ala3867Ala",
"transcript": "NM_001441055.1",
"protein_id": "NP_001427984.1",
"transcript_support_level": null,
"aa_start": 3867,
"aa_end": null,
"aa_length": 4366,
"cds_start": 11601,
"cds_end": null,
"cds_length": 13101,
"cdna_start": 12026,
"cdna_end": null,
"cdna_length": 14739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 72,
"exon_rank_end": null,
"exon_count": 81,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.11598G>A",
"hgvs_p": "p.Ala3866Ala",
"transcript": "ENST00000612484.4",
"protein_id": "ENSP00000479451.1",
"transcript_support_level": 5,
"aa_start": 3866,
"aa_end": null,
"aa_length": 4365,
"cds_start": 11598,
"cds_end": null,
"cds_length": 13098,
"cdna_start": 11598,
"cdna_end": null,
"cdna_length": 14311,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 75,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.11580G>A",
"hgvs_p": "p.Ala3860Ala",
"transcript": "NM_001441049.1",
"protein_id": "NP_001427978.1",
"transcript_support_level": null,
"aa_start": 3860,
"aa_end": null,
"aa_length": 4359,
"cds_start": 11580,
"cds_end": null,
"cds_length": 13080,
"cdna_start": 11973,
"cdna_end": null,
"cdna_length": 14686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 74,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.11580G>A",
"hgvs_p": "p.Ala3860Ala",
"transcript": "NM_001441054.1",
"protein_id": "NP_001427983.1",
"transcript_support_level": null,
"aa_start": 3860,
"aa_end": null,
"aa_length": 4359,
"cds_start": 11580,
"cds_end": null,
"cds_length": 13080,
"cdna_start": 12005,
"cdna_end": null,
"cdna_length": 14718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 75,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.11577G>A",
"hgvs_p": "p.Ala3859Ala",
"transcript": "NM_001441048.1",
"protein_id": "NP_001427977.1",
"transcript_support_level": null,
"aa_start": 3859,
"aa_end": null,
"aa_length": 4358,
"cds_start": 11577,
"cds_end": null,
"cds_length": 13077,
"cdna_start": 11970,
"cdna_end": null,
"cdna_length": 14683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 74,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.11577G>A",
"hgvs_p": "p.Ala3859Ala",
"transcript": "NM_001441053.1",
"protein_id": "NP_001427982.1",
"transcript_support_level": null,
"aa_start": 3859,
"aa_end": null,
"aa_length": 4358,
"cds_start": 11577,
"cds_end": null,
"cds_length": 13077,
"cdna_start": 12002,
"cdna_end": null,
"cdna_length": 14715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 74,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.11577G>A",
"hgvs_p": "p.Ala3859Ala",
"transcript": "NM_001441058.1",
"protein_id": "NP_001427987.1",
"transcript_support_level": null,
"aa_start": 3859,
"aa_end": null,
"aa_length": 4358,
"cds_start": 11577,
"cds_end": null,
"cds_length": 13077,
"cdna_start": 11867,
"cdna_end": null,
"cdna_length": 14580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 74,
"exon_rank_end": null,
"exon_count": 83,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.11577G>A",
"hgvs_p": "p.Ala3859Ala",
"transcript": "ENST00000704099.1",
"protein_id": "ENSP00000515693.1",
"transcript_support_level": null,
"aa_start": 3859,
"aa_end": null,
"aa_length": 4302,
"cds_start": 11577,
"cds_end": null,
"cds_length": 12909,
"cdna_start": 12022,
"cdna_end": null,
"cdna_length": 14522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 71,
"exon_rank_end": null,
"exon_count": 80,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.11223G>A",
"hgvs_p": "p.Ala3741Ala",
"transcript": "NM_001441052.1",
"protein_id": "NP_001427981.1",
"transcript_support_level": null,
"aa_start": 3741,
"aa_end": null,
"aa_length": 4240,
"cds_start": 11223,
"cds_end": null,
"cds_length": 12723,
"cdna_start": 11648,
"cdna_end": null,
"cdna_length": 14361,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.2091G>A",
"hgvs_p": "p.Ala697Ala",
"transcript": "ENST00000426907.5",
"protein_id": "ENSP00000403236.1",
"transcript_support_level": 5,
"aa_start": 697,
"aa_end": null,
"aa_length": 1196,
"cds_start": 2091,
"cds_end": null,
"cds_length": 3591,
"cdna_start": 2092,
"cdna_end": null,
"cdna_length": 4805,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 75,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.11895G>A",
"hgvs_p": "p.Ala3965Ala",
"transcript": "XM_017029198.3",
"protein_id": "XP_016884687.1",
"transcript_support_level": null,
"aa_start": 3965,
"aa_end": null,
"aa_length": 4464,
"cds_start": 11895,
"cds_end": null,
"cds_length": 13395,
"cdna_start": 12320,
"cdna_end": null,
"cdna_length": 15033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 76,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.11895G>A",
"hgvs_p": "p.Ala3965Ala",
"transcript": "XM_017029199.2",
"protein_id": "XP_016884688.1",
"transcript_support_level": null,
"aa_start": 3965,
"aa_end": null,
"aa_length": 4464,
"cds_start": 11895,
"cds_end": null,
"cds_length": 13395,
"cdna_start": 12288,
"cdna_end": null,
"cdna_length": 15001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 76,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.11895G>A",
"hgvs_p": "p.Ala3965Ala",
"transcript": "XM_017029202.2",
"protein_id": "XP_016884691.1",
"transcript_support_level": null,
"aa_start": 3965,
"aa_end": null,
"aa_length": 4464,
"cds_start": 11895,
"cds_end": null,
"cds_length": 13395,
"cdna_start": 12392,
"cdna_end": null,
"cdna_length": 15105,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 75,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.11895G>A",
"hgvs_p": "p.Ala3965Ala",
"transcript": "XM_017029203.2",
"protein_id": "XP_016884692.1",
"transcript_support_level": null,
"aa_start": 3965,
"aa_end": null,
"aa_length": 4464,
"cds_start": 11895,
"cds_end": null,
"cds_length": 13395,
"cdna_start": 12185,
"cdna_end": null,
"cdna_length": 14898,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 75,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HUWE1",
"gene_hgnc_id": 30892,
"hgvs_c": "c.11895G>A",
"hgvs_p": "p.Ala3965Ala",
"transcript": "XM_047441711.1",
"protein_id": "XP_047297667.1",
"transcript_support_level": null,
"aa_start": 3965,
"aa_end": null,
"aa_length": 4464,
"cds_start": 11895,
"cds_end": null,
"cds_length": 13395,
"cdna_start": 12214,
"cdna_end": null,
"cdna_length": 14927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 75,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
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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": -0.85,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": -10,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"BP6",
"BP7",
"BS2"
],
"verdict": "Benign",
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],
"inheritance_mode": "XL,AD",
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],
"clinvar_disease": "Inborn genetic diseases,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"phenotype_combined": "not specified|Inborn genetic diseases",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}