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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: 19-11243278-CAGTT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=11243278&ref=CAGTT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 11243278,
"ref": "CAGTT",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "ENST00000294618.12",
"consequences": [
{
"aa_ref": "LT",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK6",
"gene_hgnc_id": 19189,
"hgvs_c": "c.1362_1365delAACT",
"hgvs_p": "p.Thr455fs",
"transcript": "NM_020812.4",
"protein_id": "NP_065863.2",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 2047,
"cds_start": 1362,
"cds_end": null,
"cds_length": 6144,
"cdna_start": 1449,
"cdna_end": null,
"cdna_length": 6430,
"mane_select": "ENST00000294618.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LT",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK6",
"gene_hgnc_id": 19189,
"hgvs_c": "c.1362_1365delAACT",
"hgvs_p": "p.Thr455fs",
"transcript": "ENST00000294618.12",
"protein_id": "ENSP00000294618.6",
"transcript_support_level": 1,
"aa_start": 454,
"aa_end": null,
"aa_length": 2047,
"cds_start": 1362,
"cds_end": null,
"cds_length": 6144,
"cdna_start": 1449,
"cdna_end": null,
"cdna_length": 6430,
"mane_select": "NM_020812.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LT",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK6",
"gene_hgnc_id": 19189,
"hgvs_c": "c.1362_1365delAACT",
"hgvs_p": "p.Thr455fs",
"transcript": "NM_001367830.1",
"protein_id": "NP_001354759.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 2082,
"cds_start": 1362,
"cds_end": null,
"cds_length": 6249,
"cdna_start": 1449,
"cdna_end": null,
"cdna_length": 6535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LT",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK6",
"gene_hgnc_id": 19189,
"hgvs_c": "c.1362_1365delAACT",
"hgvs_p": "p.Thr455fs",
"transcript": "ENST00000587656.6",
"protein_id": "ENSP00000468638.2",
"transcript_support_level": 5,
"aa_start": 454,
"aa_end": null,
"aa_length": 2082,
"cds_start": 1362,
"cds_end": null,
"cds_length": 6249,
"cdna_start": 1365,
"cdna_end": null,
"cdna_length": 6249,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LT",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK6",
"gene_hgnc_id": 19189,
"hgvs_c": "c.1362_1365delAACT",
"hgvs_p": "p.Thr455fs",
"transcript": "XM_005260000.3",
"protein_id": "XP_005260057.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 2113,
"cds_start": 1362,
"cds_end": null,
"cds_length": 6342,
"cdna_start": 1449,
"cdna_end": null,
"cdna_length": 6628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LT",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK6",
"gene_hgnc_id": 19189,
"hgvs_c": "c.1395_1398delAACT",
"hgvs_p": "p.Thr466fs",
"transcript": "XM_011528150.2",
"protein_id": "XP_011526452.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 2093,
"cds_start": 1395,
"cds_end": null,
"cds_length": 6282,
"cdna_start": 1482,
"cdna_end": null,
"cdna_length": 6568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LT",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK6",
"gene_hgnc_id": 19189,
"hgvs_c": "c.1395_1398delAACT",
"hgvs_p": "p.Thr466fs",
"transcript": "XM_011528151.2",
"protein_id": "XP_011526453.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 2089,
"cds_start": 1395,
"cds_end": null,
"cds_length": 6270,
"cdna_start": 1482,
"cdna_end": null,
"cdna_length": 6556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LT",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK6",
"gene_hgnc_id": 19189,
"hgvs_c": "c.1362_1365delAACT",
"hgvs_p": "p.Thr455fs",
"transcript": "XM_047439124.1",
"protein_id": "XP_047295080.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 2078,
"cds_start": 1362,
"cds_end": null,
"cds_length": 6237,
"cdna_start": 1449,
"cdna_end": null,
"cdna_length": 6523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LT",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK6",
"gene_hgnc_id": 19189,
"hgvs_c": "c.1395_1398delAACT",
"hgvs_p": "p.Thr466fs",
"transcript": "XM_011528152.2",
"protein_id": "XP_011526454.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 2058,
"cds_start": 1395,
"cds_end": null,
"cds_length": 6177,
"cdna_start": 1482,
"cdna_end": null,
"cdna_length": 6463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LT",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK6",
"gene_hgnc_id": 19189,
"hgvs_c": "c.1395_1398delAACT",
"hgvs_p": "p.Thr466fs",
"transcript": "XM_047439125.1",
"protein_id": "XP_047295081.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 1089,
"cds_start": 1395,
"cds_end": null,
"cds_length": 3270,
"cdna_start": 1482,
"cdna_end": null,
"cdna_length": 3479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LT",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK6",
"gene_hgnc_id": 19189,
"hgvs_c": "c.1395_1398delAACT",
"hgvs_p": "p.Thr466fs",
"transcript": "XM_047439126.1",
"protein_id": "XP_047295082.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 1053,
"cds_start": 1395,
"cds_end": null,
"cds_length": 3162,
"cdna_start": 1482,
"cdna_end": null,
"cdna_length": 3307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LT",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK6",
"gene_hgnc_id": 19189,
"hgvs_c": "c.1395_1398delAACT",
"hgvs_p": "p.Thr466fs",
"transcript": "XM_047439127.1",
"protein_id": "XP_047295083.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 1048,
"cds_start": 1395,
"cds_end": null,
"cds_length": 3147,
"cdna_start": 1482,
"cdna_end": null,
"cdna_length": 3292,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DOCK6",
"gene_hgnc_id": 19189,
"dbsnp": "rs730882238",
"frequency_reference_population": 0.00004845774,
"hom_count_reference_population": 0,
"allele_count_reference_population": 78,
"gnomad_exomes_af": 0.0000439127,
"gnomad_genomes_af": 0.000091977,
"gnomad_exomes_ac": 64,
"gnomad_genomes_ac": 14,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 9.429,
"phylop100way_prediction": "Pathogenic",
"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": [
"frameshift_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1362_1365delAACT",
"hgvs_p": "p.Thr455fs"
}
],
"clinvar_disease": "Adams-Oliver syndrome,Adams-Oliver syndrome 2,Inborn genetic diseases",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:1",
"phenotype_combined": "Adams-Oliver syndrome 2|Adams-Oliver syndrome|Inborn genetic diseases",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}