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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: 19-11228987-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=11228987&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 11228987,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000294618.12",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK6",
"gene_hgnc_id": 19189,
"hgvs_c": "c.2767G>T",
"hgvs_p": "p.Val923Leu",
"transcript": "NM_020812.4",
"protein_id": "NP_065863.2",
"transcript_support_level": null,
"aa_start": 923,
"aa_end": null,
"aa_length": 2047,
"cds_start": 2767,
"cds_end": null,
"cds_length": 6144,
"cdna_start": 2851,
"cdna_end": null,
"cdna_length": 6430,
"mane_select": "ENST00000294618.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK6",
"gene_hgnc_id": 19189,
"hgvs_c": "c.2767G>T",
"hgvs_p": "p.Val923Leu",
"transcript": "ENST00000294618.12",
"protein_id": "ENSP00000294618.6",
"transcript_support_level": 1,
"aa_start": 923,
"aa_end": null,
"aa_length": 2047,
"cds_start": 2767,
"cds_end": null,
"cds_length": 6144,
"cdna_start": 2851,
"cdna_end": null,
"cdna_length": 6430,
"mane_select": "NM_020812.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK6",
"gene_hgnc_id": 19189,
"hgvs_c": "c.2872G>T",
"hgvs_p": "p.Val958Leu",
"transcript": "NM_001367830.1",
"protein_id": "NP_001354759.1",
"transcript_support_level": null,
"aa_start": 958,
"aa_end": null,
"aa_length": 2082,
"cds_start": 2872,
"cds_end": null,
"cds_length": 6249,
"cdna_start": 2956,
"cdna_end": null,
"cdna_length": 6535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK6",
"gene_hgnc_id": 19189,
"hgvs_c": "c.2872G>T",
"hgvs_p": "p.Val958Leu",
"transcript": "ENST00000587656.6",
"protein_id": "ENSP00000468638.2",
"transcript_support_level": 5,
"aa_start": 958,
"aa_end": null,
"aa_length": 2082,
"cds_start": 2872,
"cds_end": null,
"cds_length": 6249,
"cdna_start": 2872,
"cdna_end": null,
"cdna_length": 6249,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK6",
"gene_hgnc_id": 19189,
"hgvs_c": "c.1201G>T",
"hgvs_p": "p.Val401Leu",
"transcript": "ENST00000590680.5",
"protein_id": "ENSP00000467191.1",
"transcript_support_level": 5,
"aa_start": 401,
"aa_end": null,
"aa_length": 462,
"cds_start": 1201,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 1203,
"cdna_end": null,
"cdna_length": 1391,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK6",
"gene_hgnc_id": 19189,
"hgvs_c": "c.2965G>T",
"hgvs_p": "p.Val989Leu",
"transcript": "XM_005260000.3",
"protein_id": "XP_005260057.1",
"transcript_support_level": null,
"aa_start": 989,
"aa_end": null,
"aa_length": 2113,
"cds_start": 2965,
"cds_end": null,
"cds_length": 6342,
"cdna_start": 3049,
"cdna_end": null,
"cdna_length": 6628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK6",
"gene_hgnc_id": 19189,
"hgvs_c": "c.2905G>T",
"hgvs_p": "p.Val969Leu",
"transcript": "XM_011528150.2",
"protein_id": "XP_011526452.1",
"transcript_support_level": null,
"aa_start": 969,
"aa_end": null,
"aa_length": 2093,
"cds_start": 2905,
"cds_end": null,
"cds_length": 6282,
"cdna_start": 2989,
"cdna_end": null,
"cdna_length": 6568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK6",
"gene_hgnc_id": 19189,
"hgvs_c": "c.2893G>T",
"hgvs_p": "p.Val965Leu",
"transcript": "XM_011528151.2",
"protein_id": "XP_011526453.1",
"transcript_support_level": null,
"aa_start": 965,
"aa_end": null,
"aa_length": 2089,
"cds_start": 2893,
"cds_end": null,
"cds_length": 6270,
"cdna_start": 2977,
"cdna_end": null,
"cdna_length": 6556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK6",
"gene_hgnc_id": 19189,
"hgvs_c": "c.2860G>T",
"hgvs_p": "p.Val954Leu",
"transcript": "XM_047439124.1",
"protein_id": "XP_047295080.1",
"transcript_support_level": null,
"aa_start": 954,
"aa_end": null,
"aa_length": 2078,
"cds_start": 2860,
"cds_end": null,
"cds_length": 6237,
"cdna_start": 2944,
"cdna_end": null,
"cdna_length": 6523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK6",
"gene_hgnc_id": 19189,
"hgvs_c": "c.2800G>T",
"hgvs_p": "p.Val934Leu",
"transcript": "XM_011528152.2",
"protein_id": "XP_011526454.1",
"transcript_support_level": null,
"aa_start": 934,
"aa_end": null,
"aa_length": 2058,
"cds_start": 2800,
"cds_end": null,
"cds_length": 6177,
"cdna_start": 2884,
"cdna_end": null,
"cdna_length": 6463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK6",
"gene_hgnc_id": 19189,
"hgvs_c": "c.103G>T",
"hgvs_p": "p.Val35Leu",
"transcript": "XM_006722804.4",
"protein_id": "XP_006722867.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 1159,
"cds_start": 103,
"cds_end": null,
"cds_length": 3480,
"cdna_start": 204,
"cdna_end": null,
"cdna_length": 3783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK6",
"gene_hgnc_id": 19189,
"hgvs_c": "c.2906G>T",
"hgvs_p": "p.Arg969Leu",
"transcript": "XM_047439125.1",
"protein_id": "XP_047295081.1",
"transcript_support_level": null,
"aa_start": 969,
"aa_end": null,
"aa_length": 1089,
"cds_start": 2906,
"cds_end": null,
"cds_length": 3270,
"cdna_start": 2990,
"cdna_end": null,
"cdna_length": 3479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK6",
"gene_hgnc_id": 19189,
"hgvs_c": "c.2905G>T",
"hgvs_p": "p.Val969Leu",
"transcript": "XM_047439126.1",
"protein_id": "XP_047295082.1",
"transcript_support_level": null,
"aa_start": 969,
"aa_end": null,
"aa_length": 1053,
"cds_start": 2905,
"cds_end": null,
"cds_length": 3162,
"cdna_start": 2989,
"cdna_end": null,
"cdna_length": 3307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK6",
"gene_hgnc_id": 19189,
"hgvs_c": "c.2906G>T",
"hgvs_p": "p.Arg969Leu",
"transcript": "XM_047439127.1",
"protein_id": "XP_047295083.1",
"transcript_support_level": null,
"aa_start": 969,
"aa_end": null,
"aa_length": 1048,
"cds_start": 2906,
"cds_end": null,
"cds_length": 3147,
"cdna_start": 2990,
"cdna_end": null,
"cdna_length": 3292,
"mane_select": null,
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK6",
"gene_hgnc_id": 19189,
"hgvs_c": "n.84G>T",
"hgvs_p": null,
"transcript": "ENST00000590452.1",
"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": 231,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK6",
"gene_hgnc_id": 19189,
"hgvs_c": "c.*14G>T",
"hgvs_p": null,
"transcript": "ENST00000585904.1",
"protein_id": "ENSP00000465767.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 183,
"cds_start": -4,
"cds_end": null,
"cds_length": 554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DOCK6",
"gene_hgnc_id": 19189,
"dbsnp": "rs143194982",
"frequency_reference_population": 6.842276e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84228e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5974776744842529,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.19,
"revel_prediction": "Benign",
"alphamissense_score": 0.4107,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.748,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000294618.12",
"gene_symbol": "DOCK6",
"hgnc_id": 19189,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.2767G>T",
"hgvs_p": "p.Val923Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}