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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: 11-613215-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=613215&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "IRF7",
"hgnc_id": 6122,
"hgvs_c": "c.1267T>G",
"hgvs_p": "p.Phe423Val",
"inheritance_mode": "AR",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_004031.4",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_score": 6,
"allele_count_reference_population": 6,
"alphamissense_prediction": null,
"alphamissense_score": 0.8552,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.5,
"chr": "11",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Immunodeficiency 39",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9865520596504211,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 503,
"aa_ref": "F",
"aa_start": 410,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1923,
"cdna_start": 1549,
"cds_end": null,
"cds_length": 1512,
"cds_start": 1228,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001572.5",
"gene_hgnc_id": 6122,
"gene_symbol": "IRF7",
"hgvs_c": "c.1228T>G",
"hgvs_p": "p.Phe410Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000525445.6",
"protein_coding": true,
"protein_id": "NP_001563.2",
"strand": false,
"transcript": "NM_001572.5",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 503,
"aa_ref": "F",
"aa_start": 410,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1923,
"cdna_start": 1549,
"cds_end": null,
"cds_length": 1512,
"cds_start": 1228,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000525445.6",
"gene_hgnc_id": 6122,
"gene_symbol": "IRF7",
"hgvs_c": "c.1228T>G",
"hgvs_p": "p.Phe410Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001572.5",
"protein_coding": true,
"protein_id": "ENSP00000434009.2",
"strand": false,
"transcript": "ENST00000525445.6",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 516,
"aa_ref": "F",
"aa_start": 423,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2051,
"cdna_start": 1677,
"cds_end": null,
"cds_length": 1551,
"cds_start": 1267,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000397566.5",
"gene_hgnc_id": 6122,
"gene_symbol": "IRF7",
"hgvs_c": "c.1267T>G",
"hgvs_p": "p.Phe423Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380697.1",
"strand": false,
"transcript": "ENST00000397566.5",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 487,
"aa_ref": "F",
"aa_start": 394,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1943,
"cdna_start": 1590,
"cds_end": null,
"cds_length": 1464,
"cds_start": 1180,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000397570.5",
"gene_hgnc_id": 6122,
"gene_symbol": "IRF7",
"hgvs_c": "c.1180T>G",
"hgvs_p": "p.Phe394Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380700.2",
"strand": false,
"transcript": "ENST00000397570.5",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 474,
"aa_ref": "F",
"aa_start": 381,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1807,
"cdna_start": 1433,
"cds_end": null,
"cds_length": 1425,
"cds_start": 1141,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000348655.11",
"gene_hgnc_id": 6122,
"gene_symbol": "IRF7",
"hgvs_c": "c.1141T>G",
"hgvs_p": "p.Phe381Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000331803.9",
"strand": false,
"transcript": "ENST00000348655.11",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1596,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000469048.6",
"gene_hgnc_id": 6122,
"gene_symbol": "IRF7",
"hgvs_c": "n.*507T>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000434607.1",
"strand": false,
"transcript": "ENST00000469048.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1596,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000469048.6",
"gene_hgnc_id": 6122,
"gene_symbol": "IRF7",
"hgvs_c": "n.*507T>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000434607.1",
"strand": false,
"transcript": "ENST00000469048.6",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 516,
"aa_ref": "F",
"aa_start": 423,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2008,
"cdna_start": 1634,
"cds_end": null,
"cds_length": 1551,
"cds_start": 1267,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_004031.4",
"gene_hgnc_id": 6122,
"gene_symbol": "IRF7",
"hgvs_c": "c.1267T>G",
"hgvs_p": "p.Phe423Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_004022.2",
"strand": false,
"transcript": "NM_004031.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 516,
"aa_ref": "F",
"aa_start": 423,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1992,
"cdna_start": 1654,
"cds_end": null,
"cds_length": 1551,
"cds_start": 1267,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000330243.9",
"gene_hgnc_id": 6122,
"gene_symbol": "IRF7",
"hgvs_c": "c.1267T>G",
"hgvs_p": "p.Phe423Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000329411.5",
"strand": false,
"transcript": "ENST00000330243.9",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 515,
"aa_ref": "F",
"aa_start": 422,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2005,
"cdna_start": 1631,
"cds_end": null,
"cds_length": 1548,
"cds_start": 1264,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001440440.1",
"gene_hgnc_id": 6122,
"gene_symbol": "IRF7",
"hgvs_c": "c.1264T>G",
"hgvs_p": "p.Phe422Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427369.1",
"strand": false,
"transcript": "NM_001440440.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 510,
"aa_ref": "F",
"aa_start": 410,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1940,
"cdna_start": 1549,
"cds_end": null,
"cds_length": 1533,
"cds_start": 1228,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000971587.1",
"gene_hgnc_id": 6122,
"gene_symbol": "IRF7",
"hgvs_c": "c.1228T>G",
"hgvs_p": "p.Phe410Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641646.1",
"strand": false,
"transcript": "ENST00000971587.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 503,
"aa_ref": "F",
"aa_start": 410,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2136,
"cdna_start": 1762,
"cds_end": null,
"cds_length": 1512,
"cds_start": 1228,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000858982.1",
"gene_hgnc_id": 6122,
"gene_symbol": "IRF7",
"hgvs_c": "c.1228T>G",
"hgvs_p": "p.Phe410Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529041.1",
"strand": false,
"transcript": "ENST00000858982.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 503,
"aa_ref": "F",
"aa_start": 410,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1945,
"cdna_start": 1572,
"cds_end": null,
"cds_length": 1512,
"cds_start": 1228,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000858983.1",
"gene_hgnc_id": 6122,
"gene_symbol": "IRF7",
"hgvs_c": "c.1228T>G",
"hgvs_p": "p.Phe410Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529042.1",
"strand": false,
"transcript": "ENST00000858983.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 502,
"aa_ref": "F",
"aa_start": 409,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1920,
"cdna_start": 1546,
"cds_end": null,
"cds_length": 1509,
"cds_start": 1225,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001440442.1",
"gene_hgnc_id": 6122,
"gene_symbol": "IRF7",
"hgvs_c": "c.1225T>G",
"hgvs_p": "p.Phe409Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427371.1",
"strand": false,
"transcript": "NM_001440442.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 487,
"aa_ref": "F",
"aa_start": 394,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1921,
"cdna_start": 1547,
"cds_end": null,
"cds_length": 1464,
"cds_start": 1180,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001440444.1",
"gene_hgnc_id": 6122,
"gene_symbol": "IRF7",
"hgvs_c": "c.1180T>G",
"hgvs_p": "p.Phe394Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427373.1",
"strand": false,
"transcript": "NM_001440444.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 474,
"aa_ref": "F",
"aa_start": 381,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1836,
"cdna_start": 1462,
"cds_end": null,
"cds_length": 1425,
"cds_start": 1141,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_004029.4",
"gene_hgnc_id": 6122,
"gene_symbol": "IRF7",
"hgvs_c": "c.1141T>G",
"hgvs_p": "p.Phe381Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_004020.1",
"strand": false,
"transcript": "NM_004029.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 474,
"aa_ref": "F",
"aa_start": 381,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1801,
"cdna_start": 1431,
"cds_end": null,
"cds_length": 1425,
"cds_start": 1141,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000971588.1",
"gene_hgnc_id": 6122,
"gene_symbol": "IRF7",
"hgvs_c": "c.1141T>G",
"hgvs_p": "p.Phe381Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641647.1",
"strand": false,
"transcript": "ENST00000971588.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 474,
"aa_ref": "F",
"aa_start": 381,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1877,
"cdna_start": 1504,
"cds_end": null,
"cds_length": 1425,
"cds_start": 1141,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000971589.1",
"gene_hgnc_id": 6122,
"gene_symbol": "IRF7",
"hgvs_c": "c.1141T>G",
"hgvs_p": "p.Phe381Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641648.1",
"strand": false,
"transcript": "ENST00000971589.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 473,
"aa_ref": "F",
"aa_start": 380,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1833,
"cdna_start": 1459,
"cds_end": null,
"cds_length": 1422,
"cds_start": 1138,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001440445.1",
"gene_hgnc_id": 6122,
"gene_symbol": "IRF7",
"hgvs_c": "c.1138T>G",
"hgvs_p": "p.Phe380Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427374.1",
"strand": false,
"transcript": "NM_001440445.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 468,
"aa_ref": "F",
"aa_start": 375,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1815,
"cdna_start": 1444,
"cds_end": null,
"cds_length": 1407,
"cds_start": 1123,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000971586.1",
"gene_hgnc_id": 6122,
"gene_symbol": "IRF7",
"hgvs_c": "c.1123T>G",
"hgvs_p": "p.Phe375Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641645.1",
"strand": false,
"transcript": "ENST00000971586.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 408,
"aa_ref": "F",
"aa_start": 315,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1625,
"cdna_start": 1264,
"cds_end": null,
"cds_length": 1227,
"cds_start": 943,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000858981.1",
"gene_hgnc_id": 6122,
"gene_symbol": "IRF7",
"hgvs_c": "c.943T>G",
"hgvs_p": "p.Phe315Val",
"intron_rank": null,
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