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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: 16-85918797-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=85918797&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 85918797,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000268638.10",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF8",
"gene_hgnc_id": 5358,
"hgvs_c": "c.982T>A",
"hgvs_p": "p.Phe328Ile",
"transcript": "NM_002163.4",
"protein_id": "NP_002154.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 426,
"cds_start": 982,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 1045,
"cdna_end": null,
"cdna_length": 2668,
"mane_select": "ENST00000268638.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF8",
"gene_hgnc_id": 5358,
"hgvs_c": "c.982T>A",
"hgvs_p": "p.Phe328Ile",
"transcript": "ENST00000268638.10",
"protein_id": "ENSP00000268638.4",
"transcript_support_level": 1,
"aa_start": 328,
"aa_end": null,
"aa_length": 426,
"cds_start": 982,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 1045,
"cdna_end": null,
"cdna_length": 2668,
"mane_select": "NM_002163.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF8",
"gene_hgnc_id": 5358,
"hgvs_c": "c.1012T>A",
"hgvs_p": "p.Phe338Ile",
"transcript": "NM_001363907.1",
"protein_id": "NP_001350836.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 436,
"cds_start": 1012,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1043,
"cdna_end": null,
"cdna_length": 2669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF8",
"gene_hgnc_id": 5358,
"hgvs_c": "c.982T>A",
"hgvs_p": "p.Phe328Ile",
"transcript": "ENST00000564803.6",
"protein_id": "ENSP00000456992.2",
"transcript_support_level": 2,
"aa_start": 328,
"aa_end": null,
"aa_length": 426,
"cds_start": 982,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 1047,
"cdna_end": null,
"cdna_length": 2670,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF8",
"gene_hgnc_id": 5358,
"hgvs_c": "c.982T>A",
"hgvs_p": "p.Phe328Ile",
"transcript": "ENST00000696887.1",
"protein_id": "ENSP00000512953.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 426,
"cds_start": 982,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 1001,
"cdna_end": null,
"cdna_length": 2624,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF8",
"gene_hgnc_id": 5358,
"hgvs_c": "c.370T>A",
"hgvs_p": "p.Phe124Ile",
"transcript": "NM_001363908.1",
"protein_id": "NP_001350837.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 222,
"cds_start": 370,
"cds_end": null,
"cds_length": 669,
"cdna_start": 877,
"cdna_end": null,
"cdna_length": 2503,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF8",
"gene_hgnc_id": 5358,
"hgvs_c": "c.370T>A",
"hgvs_p": "p.Phe124Ile",
"transcript": "ENST00000562492.5",
"protein_id": "ENSP00000455452.1",
"transcript_support_level": 3,
"aa_start": 124,
"aa_end": null,
"aa_length": 222,
"cds_start": 370,
"cds_end": null,
"cds_length": 669,
"cdna_start": 558,
"cdna_end": null,
"cdna_length": 946,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF8",
"gene_hgnc_id": 5358,
"hgvs_c": "c.370T>A",
"hgvs_p": "p.Phe124Ile",
"transcript": "ENST00000569607.2",
"protein_id": "ENSP00000456395.2",
"transcript_support_level": 3,
"aa_start": 124,
"aa_end": null,
"aa_length": 222,
"cds_start": 370,
"cds_end": null,
"cds_length": 669,
"cdna_start": 1076,
"cdna_end": null,
"cdna_length": 2693,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF8",
"gene_hgnc_id": 5358,
"hgvs_c": "c.1012T>A",
"hgvs_p": "p.Phe338Ile",
"transcript": "XM_047434052.1",
"protein_id": "XP_047290008.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 436,
"cds_start": 1012,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 3741,
"cdna_end": null,
"cdna_length": 5367,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF8",
"gene_hgnc_id": 5358,
"hgvs_c": "n.*414T>A",
"hgvs_p": null,
"transcript": "ENST00000696884.1",
"protein_id": "ENSP00000512951.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2608,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF8",
"gene_hgnc_id": 5358,
"hgvs_c": "n.*1460T>A",
"hgvs_p": null,
"transcript": "ENST00000696885.1",
"protein_id": "ENSP00000512952.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF8",
"gene_hgnc_id": 5358,
"hgvs_c": "n.3115T>A",
"hgvs_p": null,
"transcript": "ENST00000696886.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4742,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF8",
"gene_hgnc_id": 5358,
"hgvs_c": "n.929T>A",
"hgvs_p": null,
"transcript": "ENST00000696890.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF8",
"gene_hgnc_id": 5358,
"hgvs_c": "n.*414T>A",
"hgvs_p": null,
"transcript": "ENST00000696884.1",
"protein_id": "ENSP00000512951.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2608,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF8",
"gene_hgnc_id": 5358,
"hgvs_c": "n.*1460T>A",
"hgvs_p": null,
"transcript": "ENST00000696885.1",
"protein_id": "ENSP00000512952.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "IRF8",
"gene_hgnc_id": 5358,
"hgvs_c": "c.448-1312T>A",
"hgvs_p": null,
"transcript": "ENST00000566369.2",
"protein_id": "ENSP00000455048.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 209,
"cds_start": -4,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "IRF8",
"gene_hgnc_id": 5358,
"dbsnp": "rs202046728",
"frequency_reference_population": 6.868151e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.86815e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.27126461267471313,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.263,
"revel_prediction": "Benign",
"alphamissense_score": 0.1544,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.19,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.296,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000268638.10",
"gene_symbol": "IRF8",
"hgnc_id": 5358,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.982T>A",
"hgvs_p": "p.Phe328Ile"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}