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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: 19-11202580-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=11202580&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 11202580,
"ref": "G",
"alt": "A",
"effect": "splice_region_variant,intron_variant",
"transcript": "ENST00000294618.12",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": 42,
"intron_rank_end": null,
"gene_symbol": "DOCK6",
"gene_hgnc_id": 19189,
"hgvs_c": "c.5361+4C>T",
"hgvs_p": null,
"transcript": "NM_020812.4",
"protein_id": "NP_065863.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2047,
"cds_start": -4,
"cds_end": null,
"cds_length": 6144,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6430,
"mane_select": "ENST00000294618.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": 42,
"intron_rank_end": null,
"gene_symbol": "DOCK6",
"gene_hgnc_id": 19189,
"hgvs_c": "c.5361+4C>T",
"hgvs_p": null,
"transcript": "ENST00000294618.12",
"protein_id": "ENSP00000294618.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2047,
"cds_start": -4,
"cds_end": null,
"cds_length": 6144,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6430,
"mane_select": "NM_020812.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK6",
"gene_hgnc_id": 19189,
"hgvs_c": "n.168C>T",
"hgvs_p": null,
"transcript": "ENST00000586702.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 1249,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": 43,
"intron_rank_end": null,
"gene_symbol": "DOCK6",
"gene_hgnc_id": 19189,
"hgvs_c": "c.5466+4C>T",
"hgvs_p": null,
"transcript": "NM_001367830.1",
"protein_id": "NP_001354759.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2082,
"cds_start": -4,
"cds_end": null,
"cds_length": 6249,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": 43,
"intron_rank_end": null,
"gene_symbol": "DOCK6",
"gene_hgnc_id": 19189,
"hgvs_c": "c.5466+4C>T",
"hgvs_p": null,
"transcript": "ENST00000587656.6",
"protein_id": "ENSP00000468638.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2082,
"cds_start": -4,
"cds_end": null,
"cds_length": 6249,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6249,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DOCK6",
"gene_hgnc_id": 19189,
"hgvs_c": "c.309+4C>T",
"hgvs_p": null,
"transcript": "ENST00000588666.1",
"protein_id": "ENSP00000467231.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 146,
"cds_start": -4,
"cds_end": null,
"cds_length": 443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 444,
"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.294+2863G>A",
"hgvs_p": null,
"transcript": "ENST00000715252.1",
"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": 1501,
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DOCK6-AS1",
"gene_hgnc_id": 56684,
"hgvs_c": "n.101-3230G>A",
"hgvs_p": null,
"transcript": "ENST00000840003.1",
"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": 1041,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": 44,
"intron_rank_end": null,
"gene_symbol": "DOCK6",
"gene_hgnc_id": 19189,
"hgvs_c": "c.5559+4C>T",
"hgvs_p": null,
"transcript": "XM_005260000.3",
"protein_id": "XP_005260057.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2113,
"cds_start": -4,
"cds_end": null,
"cds_length": 6342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": 43,
"intron_rank_end": null,
"gene_symbol": "DOCK6",
"gene_hgnc_id": 19189,
"hgvs_c": "c.5499+4C>T",
"hgvs_p": null,
"transcript": "XM_011528150.2",
"protein_id": "XP_011526452.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2093,
"cds_start": -4,
"cds_end": null,
"cds_length": 6282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": 43,
"intron_rank_end": null,
"gene_symbol": "DOCK6",
"gene_hgnc_id": 19189,
"hgvs_c": "c.5487+4C>T",
"hgvs_p": null,
"transcript": "XM_011528151.2",
"protein_id": "XP_011526453.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2089,
"cds_start": -4,
"cds_end": null,
"cds_length": 6270,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": 43,
"intron_rank_end": null,
"gene_symbol": "DOCK6",
"gene_hgnc_id": 19189,
"hgvs_c": "c.5454+4C>T",
"hgvs_p": null,
"transcript": "XM_047439124.1",
"protein_id": "XP_047295080.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2078,
"cds_start": -4,
"cds_end": null,
"cds_length": 6237,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": 42,
"intron_rank_end": null,
"gene_symbol": "DOCK6",
"gene_hgnc_id": 19189,
"hgvs_c": "c.5394+4C>T",
"hgvs_p": null,
"transcript": "XM_011528152.2",
"protein_id": "XP_011526454.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2058,
"cds_start": -4,
"cds_end": null,
"cds_length": 6177,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "DOCK6",
"gene_hgnc_id": 19189,
"hgvs_c": "c.2697+4C>T",
"hgvs_p": null,
"transcript": "XM_006722804.4",
"protein_id": "XP_006722867.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1159,
"cds_start": -4,
"cds_end": null,
"cds_length": 3480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DOCK6",
"gene_hgnc_id": 19189,
"dbsnp": "rs3745682",
"frequency_reference_population": 0.40192297,
"hom_count_reference_population": 132124,
"allele_count_reference_population": 648600,
"gnomad_exomes_af": 0.406419,
"gnomad_genomes_af": 0.358717,
"gnomad_exomes_ac": 594037,
"gnomad_genomes_ac": 54563,
"gnomad_exomes_homalt": 121875,
"gnomad_genomes_homalt": 10249,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7699999809265137,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.77,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.198,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000294618.12",
"gene_symbol": "DOCK6",
"hgnc_id": 19189,
"effects": [
"splice_region_variant",
"intron_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.5361+4C>T",
"hgvs_p": null
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000715252.1",
"gene_symbol": "DOCK6-AS1",
"hgnc_id": 56684,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.294+2863G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Adams-Oliver syndrome 2,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:5",
"phenotype_combined": "not specified|Adams-Oliver syndrome 2|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}