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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: 15-23005537-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=23005537&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 7,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "TUBGCP5",
"hgnc_id": 18600,
"hgvs_c": "c.2610C>T",
"hgvs_p": "p.Phe870Phe",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -5,
"transcript": "NM_001354372.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_score": -5,
"allele_count_reference_population": 9,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.82,
"chr": "15",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8199999928474426,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1024,
"aa_ref": "F",
"aa_start": 869,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3744,
"cdna_start": 2633,
"cds_end": null,
"cds_length": 3075,
"cds_start": 2607,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_052903.6",
"gene_hgnc_id": 18600,
"gene_symbol": "TUBGCP5",
"hgvs_c": "c.2607C>T",
"hgvs_p": "p.Phe869Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000615383.5",
"protein_coding": true,
"protein_id": "NP_443135.3",
"strand": false,
"transcript": "NM_052903.6",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1024,
"aa_ref": "F",
"aa_start": 869,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3744,
"cdna_start": 2633,
"cds_end": null,
"cds_length": 3075,
"cds_start": 2607,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000615383.5",
"gene_hgnc_id": 18600,
"gene_symbol": "TUBGCP5",
"hgvs_c": "c.2607C>T",
"hgvs_p": "p.Phe869Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_052903.6",
"protein_coding": true,
"protein_id": "ENSP00000480316.1",
"strand": false,
"transcript": "ENST00000615383.5",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1061,
"aa_ref": "F",
"aa_start": 870,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3644,
"cdna_start": 2636,
"cds_end": null,
"cds_length": 3186,
"cds_start": 2610,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001354372.2",
"gene_hgnc_id": 18600,
"gene_symbol": "TUBGCP5",
"hgvs_c": "c.2610C>T",
"hgvs_p": "p.Phe870Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341301.1",
"strand": false,
"transcript": "NM_001354372.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1060,
"aa_ref": "F",
"aa_start": 869,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3641,
"cdna_start": 2633,
"cds_end": null,
"cds_length": 3183,
"cds_start": 2607,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001354373.2",
"gene_hgnc_id": 18600,
"gene_symbol": "TUBGCP5",
"hgvs_c": "c.2607C>T",
"hgvs_p": "p.Phe869Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341302.1",
"strand": false,
"transcript": "NM_001354373.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1046,
"aa_ref": "F",
"aa_start": 855,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3599,
"cdna_start": 2591,
"cds_end": null,
"cds_length": 3141,
"cds_start": 2565,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001354374.2",
"gene_hgnc_id": 18600,
"gene_symbol": "TUBGCP5",
"hgvs_c": "c.2565C>T",
"hgvs_p": "p.Phe855Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341303.1",
"strand": false,
"transcript": "NM_001354374.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1033,
"aa_ref": "F",
"aa_start": 869,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3760,
"cdna_start": 2633,
"cds_end": null,
"cds_length": 3102,
"cds_start": 2607,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001354375.2",
"gene_hgnc_id": 18600,
"gene_symbol": "TUBGCP5",
"hgvs_c": "c.2607C>T",
"hgvs_p": "p.Phe869Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341304.1",
"strand": false,
"transcript": "NM_001354375.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1030,
"aa_ref": "F",
"aa_start": 869,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3751,
"cdna_start": 2633,
"cds_end": null,
"cds_length": 3093,
"cds_start": 2607,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001354376.2",
"gene_hgnc_id": 18600,
"gene_symbol": "TUBGCP5",
"hgvs_c": "c.2607C>T",
"hgvs_p": "p.Phe869Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341305.1",
"strand": false,
"transcript": "NM_001354376.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1025,
"aa_ref": "F",
"aa_start": 870,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3747,
"cdna_start": 2636,
"cds_end": null,
"cds_length": 3078,
"cds_start": 2610,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001354377.2",
"gene_hgnc_id": 18600,
"gene_symbol": "TUBGCP5",
"hgvs_c": "c.2610C>T",
"hgvs_p": "p.Phe870Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341306.1",
"strand": false,
"transcript": "NM_001354377.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1025,
"aa_ref": "F",
"aa_start": 870,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3342,
"cdna_start": 2636,
"cds_end": null,
"cds_length": 3078,
"cds_start": 2610,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001354378.2",
"gene_hgnc_id": 18600,
"gene_symbol": "TUBGCP5",
"hgvs_c": "c.2610C>T",
"hgvs_p": "p.Phe870Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341307.1",
"strand": false,
"transcript": "NM_001354378.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1024,
"aa_ref": "F",
"aa_start": 869,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3339,
"cdna_start": 2633,
"cds_end": null,
"cds_length": 3075,
"cds_start": 2607,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001102610.2",
"gene_hgnc_id": 18600,
"gene_symbol": "TUBGCP5",
"hgvs_c": "c.2607C>T",
"hgvs_p": "p.Phe869Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001096080.1",
"strand": false,
"transcript": "NM_001102610.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1024,
"aa_ref": "F",
"aa_start": 869,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3342,
"cdna_start": 2636,
"cds_end": null,
"cds_length": 3075,
"cds_start": 2607,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000620435.4",
"gene_hgnc_id": 18600,
"gene_symbol": "TUBGCP5",
"hgvs_c": "c.2607C>T",
"hgvs_p": "p.Phe869Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000481853.1",
"strand": false,
"transcript": "ENST00000620435.4",
"transcript_support_level": 2
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1016,
"aa_ref": "F",
"aa_start": 861,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3733,
"cdna_start": 2629,
"cds_end": null,
"cds_length": 3051,
"cds_start": 2583,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000959740.1",
"gene_hgnc_id": 18600,
"gene_symbol": "TUBGCP5",
"hgvs_c": "c.2583C>T",
"hgvs_p": "p.Phe861Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629799.1",
"strand": false,
"transcript": "ENST00000959740.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1007,
"aa_ref": "F",
"aa_start": 852,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3764,
"cdna_start": 2653,
"cds_end": null,
"cds_length": 3024,
"cds_start": 2556,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000939427.1",
"gene_hgnc_id": 18600,
"gene_symbol": "TUBGCP5",
"hgvs_c": "c.2556C>T",
"hgvs_p": "p.Phe852Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609486.1",
"strand": false,
"transcript": "ENST00000939427.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 995,
"aa_ref": "F",
"aa_start": 840,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3629,
"cdna_start": 2525,
"cds_end": null,
"cds_length": 2988,
"cds_start": 2520,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000861886.1",
"gene_hgnc_id": 18600,
"gene_symbol": "TUBGCP5",
"hgvs_c": "c.2520C>T",
"hgvs_p": "p.Phe840Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531945.1",
"strand": false,
"transcript": "ENST00000861886.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 983,
"aa_ref": "F",
"aa_start": 828,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3619,
"cdna_start": 2508,
"cds_end": null,
"cds_length": 2952,
"cds_start": 2484,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000939428.1",
"gene_hgnc_id": 18600,
"gene_symbol": "TUBGCP5",
"hgvs_c": "c.2484C>T",
"hgvs_p": "p.Phe828Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609487.1",
"strand": false,
"transcript": "ENST00000939428.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 963,
"aa_ref": "F",
"aa_start": 808,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3598,
"cdna_start": 2488,
"cds_end": null,
"cds_length": 2892,
"cds_start": 2424,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000861884.1",
"gene_hgnc_id": 18600,
"gene_symbol": "TUBGCP5",
"hgvs_c": "c.2424C>T",
"hgvs_p": "p.Phe808Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531943.1",
"strand": false,
"transcript": "ENST00000861884.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 961,
"aa_ref": "F",
"aa_start": 806,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3555,
"cdna_start": 2444,
"cds_end": null,
"cds_length": 2886,
"cds_start": 2418,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000861885.1",
"gene_hgnc_id": 18600,
"gene_symbol": "TUBGCP5",
"hgvs_c": "c.2418C>T",
"hgvs_p": "p.Phe806Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531944.1",
"strand": false,
"transcript": "ENST00000861885.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 224,
"aa_ref": "F",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 676,
"cdna_start": 571,
"cds_end": null,
"cds_length": 675,
"cds_start": 570,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000610294.1",
"gene_hgnc_id": 18600,
"gene_symbol": "TUBGCP5",
"hgvs_c": "c.570C>T",
"hgvs_p": "p.Phe190Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000483015.1",
"strand": false,
"transcript": "ENST00000610294.1",
"transcript_support_level": 5
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1034,
"aa_ref": "F",
"aa_start": 870,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3763,
"cdna_start": 2636,
"cds_end": null,
"cds_length": 3105,
"cds_start": 2610,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_011543868.3",
"gene_hgnc_id": 18600,
"gene_symbol": "TUBGCP5",
"hgvs_c": "c.2610C>T",
"hgvs_p": "p.Phe870Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011542170.1",
"strand": false,
"transcript": "XM_011543868.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1031,
"aa_ref": "F",
"aa_start": 870,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3754,
"cdna_start": 2636,
"cds_end": null,
"cds_length": 3096,
"cds_start": 2610,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_011543870.3",
"gene_hgnc_id": 18600,
"gene_symbol": "TUBGCP5",
"hgvs_c": "c.2610C>T",
"hgvs_p": "p.Phe870Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011542172.1",
"strand": false,
"transcript": "XM_011543870.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 914,
"aa_ref": "F",
"aa_start": 723,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3300,
"cdna_start": 2292,
"cds_end": null,
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