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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: 19-11252192-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=11252192&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "DOCK6",
"hgnc_id": 19189,
"hgvs_c": "c.434G>A",
"hgvs_p": "p.Arg145Gln",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_001367830.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_score": -20,
"allele_count_reference_population": 1239,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.0905,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.56,
"chr": "19",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "DOCK6-related disorder,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.007884562015533447,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 2047,
"aa_ref": "R",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6430,
"cdna_start": 518,
"cds_end": null,
"cds_length": 6144,
"cds_start": 434,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_020812.4",
"gene_hgnc_id": 19189,
"gene_symbol": "DOCK6",
"hgvs_c": "c.434G>A",
"hgvs_p": "p.Arg145Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000294618.12",
"protein_coding": true,
"protein_id": "NP_065863.2",
"strand": false,
"transcript": "NM_020812.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 2047,
"aa_ref": "R",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6430,
"cdna_start": 518,
"cds_end": null,
"cds_length": 6144,
"cds_start": 434,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000294618.12",
"gene_hgnc_id": 19189,
"gene_symbol": "DOCK6",
"hgvs_c": "c.434G>A",
"hgvs_p": "p.Arg145Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_020812.4",
"protein_coding": true,
"protein_id": "ENSP00000294618.6",
"strand": false,
"transcript": "ENST00000294618.12",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 2082,
"aa_ref": "R",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6535,
"cdna_start": 518,
"cds_end": null,
"cds_length": 6249,
"cds_start": 434,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001367830.1",
"gene_hgnc_id": 19189,
"gene_symbol": "DOCK6",
"hgvs_c": "c.434G>A",
"hgvs_p": "p.Arg145Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001354759.1",
"strand": false,
"transcript": "NM_001367830.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 2082,
"aa_ref": "R",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6249,
"cdna_start": 434,
"cds_end": null,
"cds_length": 6249,
"cds_start": 434,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000587656.6",
"gene_hgnc_id": 19189,
"gene_symbol": "DOCK6",
"hgvs_c": "c.434G>A",
"hgvs_p": "p.Arg145Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000468638.2",
"strand": false,
"transcript": "ENST00000587656.6",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 2113,
"aa_ref": "R",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6628,
"cdna_start": 518,
"cds_end": null,
"cds_length": 6342,
"cds_start": 434,
"consequences": [
"missense_variant"
],
"exon_count": 50,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_005260000.3",
"gene_hgnc_id": 19189,
"gene_symbol": "DOCK6",
"hgvs_c": "c.434G>A",
"hgvs_p": "p.Arg145Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005260057.1",
"strand": false,
"transcript": "XM_005260000.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 2093,
"aa_ref": "R",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6568,
"cdna_start": 518,
"cds_end": null,
"cds_length": 6282,
"cds_start": 434,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011528150.2",
"gene_hgnc_id": 19189,
"gene_symbol": "DOCK6",
"hgvs_c": "c.434G>A",
"hgvs_p": "p.Arg145Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011526452.1",
"strand": false,
"transcript": "XM_011528150.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 2089,
"aa_ref": "R",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6556,
"cdna_start": 518,
"cds_end": null,
"cds_length": 6270,
"cds_start": 434,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011528151.2",
"gene_hgnc_id": 19189,
"gene_symbol": "DOCK6",
"hgvs_c": "c.434G>A",
"hgvs_p": "p.Arg145Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011526453.1",
"strand": false,
"transcript": "XM_011528151.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 2078,
"aa_ref": "R",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6523,
"cdna_start": 518,
"cds_end": null,
"cds_length": 6237,
"cds_start": 434,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047439124.1",
"gene_hgnc_id": 19189,
"gene_symbol": "DOCK6",
"hgvs_c": "c.434G>A",
"hgvs_p": "p.Arg145Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047295080.1",
"strand": false,
"transcript": "XM_047439124.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 2058,
"aa_ref": "R",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6463,
"cdna_start": 518,
"cds_end": null,
"cds_length": 6177,
"cds_start": 434,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011528152.2",
"gene_hgnc_id": 19189,
"gene_symbol": "DOCK6",
"hgvs_c": "c.434G>A",
"hgvs_p": "p.Arg145Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011526454.1",
"strand": false,
"transcript": "XM_011528152.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1089,
"aa_ref": "R",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3479,
"cdna_start": 518,
"cds_end": null,
"cds_length": 3270,
"cds_start": 434,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047439125.1",
"gene_hgnc_id": 19189,
"gene_symbol": "DOCK6",
"hgvs_c": "c.434G>A",
"hgvs_p": "p.Arg145Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047295081.1",
"strand": false,
"transcript": "XM_047439125.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1053,
"aa_ref": "R",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3307,
"cdna_start": 518,
"cds_end": null,
"cds_length": 3162,
"cds_start": 434,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047439126.1",
"gene_hgnc_id": 19189,
"gene_symbol": "DOCK6",
"hgvs_c": "c.434G>A",
"hgvs_p": "p.Arg145Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047295082.1",
"strand": false,
"transcript": "XM_047439126.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1048,
"aa_ref": "R",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3292,
"cdna_start": 518,
"cds_end": null,
"cds_length": 3147,
"cds_start": 434,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047439127.1",
"gene_hgnc_id": 19189,
"gene_symbol": "DOCK6",
"hgvs_c": "c.434G>A",
"hgvs_p": "p.Arg145Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047295083.1",
"strand": false,
"transcript": "XM_047439127.1",
"transcript_support_level": null
},
{
"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": 3152,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000585609.1",
"gene_hgnc_id": 19189,
"gene_symbol": "DOCK6",
"hgvs_c": "n.940G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000585609.1",
"transcript_support_level": 2
},
{
"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": 352,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000586482.1",
"gene_hgnc_id": 19189,
"gene_symbol": "DOCK6",
"hgvs_c": "n.*212G>A",
"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": "ENST00000586482.1",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs140883567",
"effect": "missense_variant",
"frequency_reference_population": 0.0007831611,
"gene_hgnc_id": 19189,
"gene_symbol": "DOCK6",
"gnomad_exomes_ac": 615,
"gnomad_exomes_af": 0.000430134,
"gnomad_exomes_homalt": 4,
"gnomad_genomes_ac": 624,
"gnomad_genomes_af": 0.00409815,
"gnomad_genomes_homalt": 3,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 7,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign/Likely benign",
"phenotype_combined": "not provided|not specified|DOCK6-related disorder",
"phylop100way_prediction": "Benign",
"phylop100way_score": 2.986,
"pos": 11252192,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.062,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.1899999976158142,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.19,
"transcript": "NM_001367830.1"
}
]
}