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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: 19-11217380-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=11217380&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 11217380,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000294618.12",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK6",
"gene_hgnc_id": 19189,
"hgvs_c": "c.3562C>T",
"hgvs_p": "p.Gln1188*",
"transcript": "NM_020812.4",
"protein_id": "NP_065863.2",
"transcript_support_level": null,
"aa_start": 1188,
"aa_end": null,
"aa_length": 2047,
"cds_start": 3562,
"cds_end": null,
"cds_length": 6144,
"cdna_start": 3646,
"cdna_end": null,
"cdna_length": 6430,
"mane_select": "ENST00000294618.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK6",
"gene_hgnc_id": 19189,
"hgvs_c": "c.3562C>T",
"hgvs_p": "p.Gln1188*",
"transcript": "ENST00000294618.12",
"protein_id": "ENSP00000294618.6",
"transcript_support_level": 1,
"aa_start": 1188,
"aa_end": null,
"aa_length": 2047,
"cds_start": 3562,
"cds_end": null,
"cds_length": 6144,
"cdna_start": 3646,
"cdna_end": null,
"cdna_length": 6430,
"mane_select": "NM_020812.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK6",
"gene_hgnc_id": 19189,
"hgvs_c": "c.3667C>T",
"hgvs_p": "p.Gln1223*",
"transcript": "NM_001367830.1",
"protein_id": "NP_001354759.1",
"transcript_support_level": null,
"aa_start": 1223,
"aa_end": null,
"aa_length": 2082,
"cds_start": 3667,
"cds_end": null,
"cds_length": 6249,
"cdna_start": 3751,
"cdna_end": null,
"cdna_length": 6535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK6",
"gene_hgnc_id": 19189,
"hgvs_c": "c.3667C>T",
"hgvs_p": "p.Gln1223*",
"transcript": "ENST00000587656.6",
"protein_id": "ENSP00000468638.2",
"transcript_support_level": 5,
"aa_start": 1223,
"aa_end": null,
"aa_length": 2082,
"cds_start": 3667,
"cds_end": null,
"cds_length": 6249,
"cdna_start": 3667,
"cdna_end": null,
"cdna_length": 6249,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK6",
"gene_hgnc_id": 19189,
"hgvs_c": "c.3760C>T",
"hgvs_p": "p.Gln1254*",
"transcript": "XM_005260000.3",
"protein_id": "XP_005260057.1",
"transcript_support_level": null,
"aa_start": 1254,
"aa_end": null,
"aa_length": 2113,
"cds_start": 3760,
"cds_end": null,
"cds_length": 6342,
"cdna_start": 3844,
"cdna_end": null,
"cdna_length": 6628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK6",
"gene_hgnc_id": 19189,
"hgvs_c": "c.3700C>T",
"hgvs_p": "p.Gln1234*",
"transcript": "XM_011528150.2",
"protein_id": "XP_011526452.1",
"transcript_support_level": null,
"aa_start": 1234,
"aa_end": null,
"aa_length": 2093,
"cds_start": 3700,
"cds_end": null,
"cds_length": 6282,
"cdna_start": 3784,
"cdna_end": null,
"cdna_length": 6568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK6",
"gene_hgnc_id": 19189,
"hgvs_c": "c.3688C>T",
"hgvs_p": "p.Gln1230*",
"transcript": "XM_011528151.2",
"protein_id": "XP_011526453.1",
"transcript_support_level": null,
"aa_start": 1230,
"aa_end": null,
"aa_length": 2089,
"cds_start": 3688,
"cds_end": null,
"cds_length": 6270,
"cdna_start": 3772,
"cdna_end": null,
"cdna_length": 6556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK6",
"gene_hgnc_id": 19189,
"hgvs_c": "c.3655C>T",
"hgvs_p": "p.Gln1219*",
"transcript": "XM_047439124.1",
"protein_id": "XP_047295080.1",
"transcript_support_level": null,
"aa_start": 1219,
"aa_end": null,
"aa_length": 2078,
"cds_start": 3655,
"cds_end": null,
"cds_length": 6237,
"cdna_start": 3739,
"cdna_end": null,
"cdna_length": 6523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK6",
"gene_hgnc_id": 19189,
"hgvs_c": "c.3595C>T",
"hgvs_p": "p.Gln1199*",
"transcript": "XM_011528152.2",
"protein_id": "XP_011526454.1",
"transcript_support_level": null,
"aa_start": 1199,
"aa_end": null,
"aa_length": 2058,
"cds_start": 3595,
"cds_end": null,
"cds_length": 6177,
"cdna_start": 3679,
"cdna_end": null,
"cdna_length": 6463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK6",
"gene_hgnc_id": 19189,
"hgvs_c": "c.898C>T",
"hgvs_p": "p.Gln300*",
"transcript": "XM_006722804.4",
"protein_id": "XP_006722867.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 1159,
"cds_start": 898,
"cds_end": null,
"cds_length": 3480,
"cdna_start": 999,
"cdna_end": null,
"cdna_length": 3783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DOCK6-AS1",
"gene_hgnc_id": 56684,
"hgvs_c": "n.651+1130G>A",
"hgvs_p": null,
"transcript": "ENST00000588634.2",
"protein_id": null,
"transcript_support_level": 4,
"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": 2462,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DOCK6-AS1",
"gene_hgnc_id": 56684,
"hgvs_c": "n.538-2598G>A",
"hgvs_p": null,
"transcript": "NR_186345.1",
"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": 2133,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK6",
"gene_hgnc_id": 19189,
"hgvs_c": "n.-84C>T",
"hgvs_p": null,
"transcript": "ENST00000588429.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK6",
"gene_hgnc_id": 19189,
"hgvs_c": "n.-112C>T",
"hgvs_p": null,
"transcript": "ENST00000592403.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 459,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DOCK6",
"gene_hgnc_id": 19189,
"dbsnp": "rs372751467",
"frequency_reference_population": 0.000017359152,
"hom_count_reference_population": 0,
"allele_count_reference_population": 28,
"gnomad_exomes_af": 0.0000171141,
"gnomad_genomes_af": 0.0000197106,
"gnomad_exomes_ac": 25,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6499999761581421,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.65,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.296,
"phylop100way_prediction": "Uncertain_significance",
"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": 16,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 16,
"benign_score": 0,
"pathogenic_score": 16,
"criteria": [
"PVS1",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000294618.12",
"gene_symbol": "DOCK6",
"hgnc_id": 19189,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.3562C>T",
"hgvs_p": "p.Gln1188*"
},
{
"score": 14,
"benign_score": 0,
"pathogenic_score": 14,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000588634.2",
"gene_symbol": "DOCK6-AS1",
"hgnc_id": 56684,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.651+1130G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Adams-Oliver syndrome 1,DOCK6-related disorder,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:3",
"phenotype_combined": "not provided|Adams-Oliver syndrome 1|DOCK6-related disorder",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}