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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: 16-31423169-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=31423169&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 31423169,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000389202.3",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGAD",
"gene_hgnc_id": 6146,
"hgvs_c": "c.2836A>C",
"hgvs_p": "p.Lys946Gln",
"transcript": "NM_005353.3",
"protein_id": "NP_005344.2",
"transcript_support_level": null,
"aa_start": 946,
"aa_end": null,
"aa_length": 1161,
"cds_start": 2836,
"cds_end": null,
"cds_length": 3486,
"cdna_start": 2862,
"cdna_end": null,
"cdna_length": 3889,
"mane_select": "ENST00000389202.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGAD",
"gene_hgnc_id": 6146,
"hgvs_c": "c.2836A>C",
"hgvs_p": "p.Lys946Gln",
"transcript": "ENST00000389202.3",
"protein_id": "ENSP00000373854.2",
"transcript_support_level": 1,
"aa_start": 946,
"aa_end": null,
"aa_length": 1161,
"cds_start": 2836,
"cds_end": null,
"cds_length": 3486,
"cdna_start": 2862,
"cdna_end": null,
"cdna_length": 3889,
"mane_select": "NM_005353.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGAD",
"gene_hgnc_id": 6146,
"hgvs_c": "c.2839A>C",
"hgvs_p": "p.Lys947Gln",
"transcript": "NM_001318185.2",
"protein_id": "NP_001305114.1",
"transcript_support_level": null,
"aa_start": 947,
"aa_end": null,
"aa_length": 1162,
"cds_start": 2839,
"cds_end": null,
"cds_length": 3489,
"cdna_start": 2865,
"cdna_end": null,
"cdna_length": 3892,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGAD",
"gene_hgnc_id": 6146,
"hgvs_c": "c.2923A>C",
"hgvs_p": "p.Lys975Gln",
"transcript": "XM_011545835.4",
"protein_id": "XP_011544137.1",
"transcript_support_level": null,
"aa_start": 975,
"aa_end": null,
"aa_length": 1190,
"cds_start": 2923,
"cds_end": null,
"cds_length": 3573,
"cdna_start": 2949,
"cdna_end": null,
"cdna_length": 3976,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGAD",
"gene_hgnc_id": 6146,
"hgvs_c": "c.2920A>C",
"hgvs_p": "p.Lys974Gln",
"transcript": "XM_011545836.4",
"protein_id": "XP_011544138.1",
"transcript_support_level": null,
"aa_start": 974,
"aa_end": null,
"aa_length": 1189,
"cds_start": 2920,
"cds_end": null,
"cds_length": 3570,
"cdna_start": 2946,
"cdna_end": null,
"cdna_length": 3973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGAD",
"gene_hgnc_id": 6146,
"hgvs_c": "c.2920A>C",
"hgvs_p": "p.Lys974Gln",
"transcript": "XM_011545837.3",
"protein_id": "XP_011544139.1",
"transcript_support_level": null,
"aa_start": 974,
"aa_end": null,
"aa_length": 1189,
"cds_start": 2920,
"cds_end": null,
"cds_length": 3570,
"cdna_start": 2946,
"cdna_end": null,
"cdna_length": 3973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGAD",
"gene_hgnc_id": 6146,
"hgvs_c": "c.2890A>C",
"hgvs_p": "p.Lys964Gln",
"transcript": "XM_011545838.3",
"protein_id": "XP_011544140.1",
"transcript_support_level": null,
"aa_start": 964,
"aa_end": null,
"aa_length": 1179,
"cds_start": 2890,
"cds_end": null,
"cds_length": 3540,
"cdna_start": 2916,
"cdna_end": null,
"cdna_length": 3943,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGAD",
"gene_hgnc_id": 6146,
"hgvs_c": "c.2872A>C",
"hgvs_p": "p.Lys958Gln",
"transcript": "XM_011545839.3",
"protein_id": "XP_011544141.1",
"transcript_support_level": null,
"aa_start": 958,
"aa_end": null,
"aa_length": 1173,
"cds_start": 2872,
"cds_end": null,
"cds_length": 3522,
"cdna_start": 2898,
"cdna_end": null,
"cdna_length": 3925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGAD",
"gene_hgnc_id": 6146,
"hgvs_c": "c.2923A>C",
"hgvs_p": "p.Lys975Gln",
"transcript": "XM_017023215.3",
"protein_id": "XP_016878704.1",
"transcript_support_level": null,
"aa_start": 975,
"aa_end": null,
"aa_length": 1164,
"cds_start": 2923,
"cds_end": null,
"cds_length": 3495,
"cdna_start": 2949,
"cdna_end": null,
"cdna_length": 3898,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGAD",
"gene_hgnc_id": 6146,
"hgvs_c": "c.2833A>C",
"hgvs_p": "p.Lys945Gln",
"transcript": "XM_011545841.3",
"protein_id": "XP_011544143.1",
"transcript_support_level": null,
"aa_start": 945,
"aa_end": null,
"aa_length": 1160,
"cds_start": 2833,
"cds_end": null,
"cds_length": 3483,
"cdna_start": 2859,
"cdna_end": null,
"cdna_length": 3886,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGAD",
"gene_hgnc_id": 6146,
"hgvs_c": "c.2836A>C",
"hgvs_p": "p.Lys946Gln",
"transcript": "XM_047434071.1",
"protein_id": "XP_047290027.1",
"transcript_support_level": null,
"aa_start": 946,
"aa_end": null,
"aa_length": 1135,
"cds_start": 2836,
"cds_end": null,
"cds_length": 3408,
"cdna_start": 2862,
"cdna_end": null,
"cdna_length": 3811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGAD",
"gene_hgnc_id": 6146,
"hgvs_c": "c.2662A>C",
"hgvs_p": "p.Lys888Gln",
"transcript": "XM_011545842.4",
"protein_id": "XP_011544144.1",
"transcript_support_level": null,
"aa_start": 888,
"aa_end": null,
"aa_length": 1103,
"cds_start": 2662,
"cds_end": null,
"cds_length": 3312,
"cdna_start": 2688,
"cdna_end": null,
"cdna_length": 3715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGAD",
"gene_hgnc_id": 6146,
"hgvs_c": "c.2923A>C",
"hgvs_p": "p.Lys975Gln",
"transcript": "XM_011545843.4",
"protein_id": "XP_011544145.1",
"transcript_support_level": null,
"aa_start": 975,
"aa_end": null,
"aa_length": 1028,
"cds_start": 2923,
"cds_end": null,
"cds_length": 3087,
"cdna_start": 2949,
"cdna_end": null,
"cdna_length": 3232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGAD",
"gene_hgnc_id": 6146,
"hgvs_c": "c.2347A>C",
"hgvs_p": "p.Lys783Gln",
"transcript": "XM_011545844.4",
"protein_id": "XP_011544146.1",
"transcript_support_level": null,
"aa_start": 783,
"aa_end": null,
"aa_length": 998,
"cds_start": 2347,
"cds_end": null,
"cds_length": 2997,
"cdna_start": 2373,
"cdna_end": null,
"cdna_length": 3400,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGAD",
"gene_hgnc_id": 6146,
"hgvs_c": "c.1687A>C",
"hgvs_p": "p.Lys563Gln",
"transcript": "XM_011545847.4",
"protein_id": "XP_011544149.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 778,
"cds_start": 1687,
"cds_end": null,
"cds_length": 2337,
"cdna_start": 1713,
"cdna_end": null,
"cdna_length": 2740,
"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": 24,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGAD",
"gene_hgnc_id": 6146,
"hgvs_c": "n.2949A>C",
"hgvs_p": null,
"transcript": "XR_950791.3",
"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": 4134,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ITGAD",
"gene_hgnc_id": 6146,
"dbsnp": "rs193921125",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.17936056852340698,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.029,
"revel_prediction": "Benign",
"alphamissense_score": 0.1066,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.67,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.277,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000389202.3",
"gene_symbol": "ITGAD",
"hgnc_id": 6146,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2836A>C",
"hgvs_p": "p.Lys946Gln"
}
],
"clinvar_disease": "Prostate cancer",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Prostate cancer",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}