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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: 9-328113-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=328113&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"PP3_Moderate",
"BP6",
"BS1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "DOCK8",
"hgnc_id": 19191,
"hgvs_c": "c.986C>T",
"hgvs_p": "p.Ala329Val",
"inheritance_mode": "AR,AD",
"pathogenic_score": 2,
"score": -3,
"transcript": "NM_203447.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3_Moderate,BP6,BS1",
"acmg_score": -3,
"allele_count_reference_population": 565,
"alphamissense_prediction": null,
"alphamissense_score": 0.5348,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.06,
"chr": "9",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Combined immunodeficiency due to DOCK8 deficiency,Inborn genetic diseases,not provided,not specified",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.028932392597198486,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2099,
"aa_ref": "A",
"aa_start": 329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7448,
"cdna_start": 1098,
"cds_end": null,
"cds_length": 6300,
"cds_start": 986,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_203447.4",
"gene_hgnc_id": 19191,
"gene_symbol": "DOCK8",
"hgvs_c": "c.986C>T",
"hgvs_p": "p.Ala329Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000432829.7",
"protein_coding": true,
"protein_id": "NP_982272.2",
"strand": true,
"transcript": "NM_203447.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2099,
"aa_ref": "A",
"aa_start": 329,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7448,
"cdna_start": 1098,
"cds_end": null,
"cds_length": 6300,
"cds_start": 986,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000432829.7",
"gene_hgnc_id": 19191,
"gene_symbol": "DOCK8",
"hgvs_c": "c.986C>T",
"hgvs_p": "p.Ala329Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_203447.4",
"protein_coding": true,
"protein_id": "ENSP00000394888.3",
"strand": true,
"transcript": "ENST00000432829.7",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1999,
"aa_ref": "A",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6386,
"cdna_start": 861,
"cds_end": null,
"cds_length": 6000,
"cds_start": 782,
"consequences": [
"missense_variant"
],
"exon_count": 46,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000469391.5",
"gene_hgnc_id": 19191,
"gene_symbol": "DOCK8",
"hgvs_c": "c.782C>T",
"hgvs_p": "p.Ala261Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000419438.1",
"strand": true,
"transcript": "ENST00000469391.5",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1936,
"aa_ref": "A",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6538,
"cdna_start": 1179,
"cds_end": null,
"cds_length": 5811,
"cds_start": 782,
"consequences": [
"missense_variant"
],
"exon_count": 46,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000382329.2",
"gene_hgnc_id": 19191,
"gene_symbol": "DOCK8",
"hgvs_c": "c.782C>T",
"hgvs_p": "p.Ala261Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000371766.2",
"strand": true,
"transcript": "ENST00000382329.2",
"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": 4000,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 23,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000483757.6",
"gene_hgnc_id": 19191,
"gene_symbol": "DOCK8",
"hgvs_c": "n.782C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000417691.2",
"strand": true,
"transcript": "ENST00000483757.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 9277,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 46,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000495184.5",
"gene_hgnc_id": 19191,
"gene_symbol": "DOCK8",
"hgvs_c": "n.847C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000495184.5",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2031,
"aa_ref": "A",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7235,
"cdna_start": 885,
"cds_end": null,
"cds_length": 6096,
"cds_start": 782,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001193536.2",
"gene_hgnc_id": 19191,
"gene_symbol": "DOCK8",
"hgvs_c": "c.782C>T",
"hgvs_p": "p.Ala261Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001180465.1",
"strand": true,
"transcript": "NM_001193536.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2031,
"aa_ref": "A",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7237,
"cdna_start": 883,
"cds_end": null,
"cds_length": 6096,
"cds_start": 782,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000453981.5",
"gene_hgnc_id": 19191,
"gene_symbol": "DOCK8",
"hgvs_c": "c.782C>T",
"hgvs_p": "p.Ala261Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000408464.2",
"strand": true,
"transcript": "ENST00000453981.5",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1999,
"aa_ref": "A",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7139,
"cdna_start": 885,
"cds_end": null,
"cds_length": 6000,
"cds_start": 782,
"consequences": [
"missense_variant"
],
"exon_count": 46,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001190458.2",
"gene_hgnc_id": 19191,
"gene_symbol": "DOCK8",
"hgvs_c": "c.782C>T",
"hgvs_p": "p.Ala261Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001177387.1",
"strand": true,
"transcript": "NM_001190458.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2068,
"aa_ref": "A",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6475,
"cdna_start": 1039,
"cds_end": null,
"cds_length": 6207,
"cds_start": 887,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047423931.1",
"gene_hgnc_id": 19191,
"gene_symbol": "DOCK8",
"hgvs_c": "c.887C>T",
"hgvs_p": "p.Ala296Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279887.1",
"strand": true,
"transcript": "XM_047423931.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2068,
"aa_ref": "A",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6784,
"cdna_start": 1348,
"cds_end": null,
"cds_length": 6207,
"cds_start": 887,
"consequences": [
"missense_variant"
],
"exon_count": 51,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_047423932.1",
"gene_hgnc_id": 19191,
"gene_symbol": "DOCK8",
"hgvs_c": "c.887C>T",
"hgvs_p": "p.Ala296Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279888.1",
"strand": true,
"transcript": "XM_047423932.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2055,
"aa_ref": "A",
"aa_start": 283,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6436,
"cdna_start": 1000,
"cds_end": null,
"cds_length": 6168,
"cds_start": 848,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047423934.1",
"gene_hgnc_id": 19191,
"gene_symbol": "DOCK8",
"hgvs_c": "c.848C>T",
"hgvs_p": "p.Ala283Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279890.1",
"strand": true,
"transcript": "XM_047423934.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2053,
"aa_ref": "A",
"aa_start": 283,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7350,
"cdna_start": 1000,
"cds_end": null,
"cds_length": 6162,
"cds_start": 848,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_011518046.3",
"gene_hgnc_id": 19191,
"gene_symbol": "DOCK8",
"hgvs_c": "c.848C>T",
"hgvs_p": "p.Ala283Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011516348.1",
"strand": true,
"transcript": "XM_011518046.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2033,
"aa_ref": "A",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6429,
"cdna_start": 993,
"cds_end": null,
"cds_length": 6102,
"cds_start": 782,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047423927.1",
"gene_hgnc_id": 19191,
"gene_symbol": "DOCK8",
"hgvs_c": "c.782C>T",
"hgvs_p": "p.Ala261Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279883.1",
"strand": true,
"transcript": "XM_047423927.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2033,
"aa_ref": "A",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6431,
"cdna_start": 995,
"cds_end": null,
"cds_length": 6102,
"cds_start": 782,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047423928.1",
"gene_hgnc_id": 19191,
"gene_symbol": "DOCK8",
"hgvs_c": "c.782C>T",
"hgvs_p": "p.Ala261Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279884.1",
"strand": true,
"transcript": "XM_047423928.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2033,
"aa_ref": "A",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6321,
"cdna_start": 885,
"cds_end": null,
"cds_length": 6102,
"cds_start": 782,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047423935.1",
"gene_hgnc_id": 19191,
"gene_symbol": "DOCK8",
"hgvs_c": "c.782C>T",
"hgvs_p": "p.Ala261Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279891.1",
"strand": true,
"transcript": "XM_047423935.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2031,
"aa_ref": "A",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7343,
"cdna_start": 993,
"cds_end": null,
"cds_length": 6096,
"cds_start": 782,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_017015173.2",
"gene_hgnc_id": 19191,
"gene_symbol": "DOCK8",
"hgvs_c": "c.782C>T",
"hgvs_p": "p.Ala261Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016870662.1",
"strand": true,
"transcript": "XM_017015173.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2031,
"aa_ref": "A",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7345,
"cdna_start": 995,
"cds_end": null,
"cds_length": 6096,
"cds_start": 782,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047423929.1",
"gene_hgnc_id": 19191,
"gene_symbol": "DOCK8",
"hgvs_c": "c.782C>T",
"hgvs_p": "p.Ala261Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279885.1",
"strand": true,
"transcript": "XM_047423929.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2031,
"aa_ref": "A",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7214,
"cdna_start": 864,
"cds_end": null,
"cds_length": 6096,
"cds_start": 782,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047423933.1",
"gene_hgnc_id": 19191,
"gene_symbol": "DOCK8",
"hgvs_c": "c.782C>T",
"hgvs_p": "p.Ala261Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279889.1",
"strand": true,
"transcript": "XM_047423933.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2021,
"aa_ref": "A",
"aa_start": 283,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7254,
"cdna_start": 1000,
"cds_end": null,
"cds_length": 6066,
"cds_start": 848,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047423936.1",
"gene_hgnc_id": 19191,
"gene_symbol": "DOCK8",
"hgvs_c": "c.848C>T",
"hgvs_p": "p.Ala283Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279892.1",
"strand": true,
"transcript": "XM_047423936.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2001,
"aa_ref": "A",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6333,
"cdna_start": 993,
"cds_end": null,
"cds_length": 6006,
"cds_start": 782,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047423930.1",
"gene_hgnc_id": 19191,
"gene_symbol": "DOCK8",
"hgvs_c": "c.782C>T",
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]
}