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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: 19-11214408-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=11214408&ref=G&alt=A&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",
"splice_region_variant"
],
"gene_symbol": "DOCK6",
"hgnc_id": 19189,
"hgvs_c": "c.4310C>T",
"hgvs_p": "p.Thr1437Met",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_001367830.1",
"verdict": "Benign"
},
{
"benign_score": 16,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "DOCK6-AS1",
"hgnc_id": 56684,
"hgvs_c": "n.538-1729G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -16,
"transcript": "ENST00000588634.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_score": -20,
"allele_count_reference_population": 1151,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.1647,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.27,
"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": 0.01022842526435852,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 2047,
"aa_ref": "T",
"aa_start": 1402,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6430,
"cdna_start": 4289,
"cds_end": null,
"cds_length": 6144,
"cds_start": 4205,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 48,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "NM_020812.4",
"gene_hgnc_id": 19189,
"gene_symbol": "DOCK6",
"hgvs_c": "c.4205C>T",
"hgvs_p": "p.Thr1402Met",
"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": "M",
"aa_end": null,
"aa_length": 2047,
"aa_ref": "T",
"aa_start": 1402,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6430,
"cdna_start": 4289,
"cds_end": null,
"cds_length": 6144,
"cds_start": 4205,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 48,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000294618.12",
"gene_hgnc_id": 19189,
"gene_symbol": "DOCK6",
"hgvs_c": "c.4205C>T",
"hgvs_p": "p.Thr1402Met",
"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": "M",
"aa_end": null,
"aa_length": 2082,
"aa_ref": "T",
"aa_start": 1437,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6535,
"cdna_start": 4394,
"cds_end": null,
"cds_length": 6249,
"cds_start": 4310,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 49,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "NM_001367830.1",
"gene_hgnc_id": 19189,
"gene_symbol": "DOCK6",
"hgvs_c": "c.4310C>T",
"hgvs_p": "p.Thr1437Met",
"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": "M",
"aa_end": null,
"aa_length": 2082,
"aa_ref": "T",
"aa_start": 1437,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6249,
"cdna_start": 4310,
"cds_end": null,
"cds_length": 6249,
"cds_start": 4310,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 49,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "ENST00000587656.6",
"gene_hgnc_id": 19189,
"gene_symbol": "DOCK6",
"hgvs_c": "c.4310C>T",
"hgvs_p": "p.Thr1437Met",
"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": "M",
"aa_end": null,
"aa_length": 2113,
"aa_ref": "T",
"aa_start": 1468,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6628,
"cdna_start": 4487,
"cds_end": null,
"cds_length": 6342,
"cds_start": 4403,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 50,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "XM_005260000.3",
"gene_hgnc_id": 19189,
"gene_symbol": "DOCK6",
"hgvs_c": "c.4403C>T",
"hgvs_p": "p.Thr1468Met",
"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": "M",
"aa_end": null,
"aa_length": 2093,
"aa_ref": "T",
"aa_start": 1448,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6568,
"cdna_start": 4427,
"cds_end": null,
"cds_length": 6282,
"cds_start": 4343,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 49,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "XM_011528150.2",
"gene_hgnc_id": 19189,
"gene_symbol": "DOCK6",
"hgvs_c": "c.4343C>T",
"hgvs_p": "p.Thr1448Met",
"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": "M",
"aa_end": null,
"aa_length": 2089,
"aa_ref": "T",
"aa_start": 1444,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6556,
"cdna_start": 4415,
"cds_end": null,
"cds_length": 6270,
"cds_start": 4331,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 49,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "XM_011528151.2",
"gene_hgnc_id": 19189,
"gene_symbol": "DOCK6",
"hgvs_c": "c.4331C>T",
"hgvs_p": "p.Thr1444Met",
"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": "M",
"aa_end": null,
"aa_length": 2078,
"aa_ref": "T",
"aa_start": 1433,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6523,
"cdna_start": 4382,
"cds_end": null,
"cds_length": 6237,
"cds_start": 4298,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 49,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "XM_047439124.1",
"gene_hgnc_id": 19189,
"gene_symbol": "DOCK6",
"hgvs_c": "c.4298C>T",
"hgvs_p": "p.Thr1433Met",
"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": "M",
"aa_end": null,
"aa_length": 2058,
"aa_ref": "T",
"aa_start": 1413,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6463,
"cdna_start": 4322,
"cds_end": null,
"cds_length": 6177,
"cds_start": 4238,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 48,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "XM_011528152.2",
"gene_hgnc_id": 19189,
"gene_symbol": "DOCK6",
"hgvs_c": "c.4238C>T",
"hgvs_p": "p.Thr1413Met",
"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": "M",
"aa_end": null,
"aa_length": 1159,
"aa_ref": "T",
"aa_start": 514,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3783,
"cdna_start": 1642,
"cds_end": null,
"cds_length": 3480,
"cds_start": 1541,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 27,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_006722804.4",
"gene_hgnc_id": 19189,
"gene_symbol": "DOCK6",
"hgvs_c": "c.1541C>T",
"hgvs_p": "p.Thr514Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006722867.1",
"strand": false,
"transcript": "XM_006722804.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2462,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000588634.2",
"gene_hgnc_id": 56684,
"gene_symbol": "DOCK6-AS1",
"hgvs_c": "n.538-1729G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000588634.2",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 569,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NR_134909.1",
"gene_hgnc_id": 56684,
"gene_symbol": "DOCK6-AS1",
"hgvs_c": "n.538-1729G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_134909.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2133,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NR_186345.1",
"gene_hgnc_id": 56684,
"gene_symbol": "DOCK6-AS1",
"hgvs_c": "n.538-5570G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_186345.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": "Pathogenic",
"dbscsnv_ada_score": 0.976105770807032,
"dbsnp": "rs147554257",
"effect": "missense_variant,splice_region_variant",
"frequency_reference_population": 0.00071324734,
"gene_hgnc_id": 19189,
"gene_symbol": "DOCK6",
"gnomad_exomes_ac": 574,
"gnomad_exomes_af": 0.000392757,
"gnomad_exomes_homalt": 6,
"gnomad_genomes_ac": 577,
"gnomad_genomes_af": 0.00378902,
"gnomad_genomes_homalt": 3,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 9,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign/Likely benign",
"phenotype_combined": "not provided|not specified|DOCK6-related disorder",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 7.852,
"pos": 11214408,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.277,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.6940000057220459,
"splice_source_selected": "dbscSNV1_RF",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001367830.1"
}
]
}