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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: 19-11213198-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=11213198&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 11213198,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000294618.12",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK6",
"gene_hgnc_id": 19189,
"hgvs_c": "c.4469G>T",
"hgvs_p": "p.Arg1490Leu",
"transcript": "NM_020812.4",
"protein_id": "NP_065863.2",
"transcript_support_level": null,
"aa_start": 1490,
"aa_end": null,
"aa_length": 2047,
"cds_start": 4469,
"cds_end": null,
"cds_length": 6144,
"cdna_start": 4553,
"cdna_end": null,
"cdna_length": 6430,
"mane_select": "ENST00000294618.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK6",
"gene_hgnc_id": 19189,
"hgvs_c": "c.4469G>T",
"hgvs_p": "p.Arg1490Leu",
"transcript": "ENST00000294618.12",
"protein_id": "ENSP00000294618.6",
"transcript_support_level": 1,
"aa_start": 1490,
"aa_end": null,
"aa_length": 2047,
"cds_start": 4469,
"cds_end": null,
"cds_length": 6144,
"cdna_start": 4553,
"cdna_end": null,
"cdna_length": 6430,
"mane_select": "NM_020812.4",
"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": 36,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK6",
"gene_hgnc_id": 19189,
"hgvs_c": "c.4574G>T",
"hgvs_p": "p.Arg1525Leu",
"transcript": "NM_001367830.1",
"protein_id": "NP_001354759.1",
"transcript_support_level": null,
"aa_start": 1525,
"aa_end": null,
"aa_length": 2082,
"cds_start": 4574,
"cds_end": null,
"cds_length": 6249,
"cdna_start": 4658,
"cdna_end": null,
"cdna_length": 6535,
"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": 36,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK6",
"gene_hgnc_id": 19189,
"hgvs_c": "c.4574G>T",
"hgvs_p": "p.Arg1525Leu",
"transcript": "ENST00000587656.6",
"protein_id": "ENSP00000468638.2",
"transcript_support_level": 5,
"aa_start": 1525,
"aa_end": null,
"aa_length": 2082,
"cds_start": 4574,
"cds_end": null,
"cds_length": 6249,
"cdna_start": 4574,
"cdna_end": null,
"cdna_length": 6249,
"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": 37,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK6",
"gene_hgnc_id": 19189,
"hgvs_c": "c.4667G>T",
"hgvs_p": "p.Arg1556Leu",
"transcript": "XM_005260000.3",
"protein_id": "XP_005260057.1",
"transcript_support_level": null,
"aa_start": 1556,
"aa_end": null,
"aa_length": 2113,
"cds_start": 4667,
"cds_end": null,
"cds_length": 6342,
"cdna_start": 4751,
"cdna_end": null,
"cdna_length": 6628,
"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": 36,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK6",
"gene_hgnc_id": 19189,
"hgvs_c": "c.4607G>T",
"hgvs_p": "p.Arg1536Leu",
"transcript": "XM_011528150.2",
"protein_id": "XP_011526452.1",
"transcript_support_level": null,
"aa_start": 1536,
"aa_end": null,
"aa_length": 2093,
"cds_start": 4607,
"cds_end": null,
"cds_length": 6282,
"cdna_start": 4691,
"cdna_end": null,
"cdna_length": 6568,
"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": 36,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK6",
"gene_hgnc_id": 19189,
"hgvs_c": "c.4595G>T",
"hgvs_p": "p.Arg1532Leu",
"transcript": "XM_011528151.2",
"protein_id": "XP_011526453.1",
"transcript_support_level": null,
"aa_start": 1532,
"aa_end": null,
"aa_length": 2089,
"cds_start": 4595,
"cds_end": null,
"cds_length": 6270,
"cdna_start": 4679,
"cdna_end": null,
"cdna_length": 6556,
"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": 36,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK6",
"gene_hgnc_id": 19189,
"hgvs_c": "c.4562G>T",
"hgvs_p": "p.Arg1521Leu",
"transcript": "XM_047439124.1",
"protein_id": "XP_047295080.1",
"transcript_support_level": null,
"aa_start": 1521,
"aa_end": null,
"aa_length": 2078,
"cds_start": 4562,
"cds_end": null,
"cds_length": 6237,
"cdna_start": 4646,
"cdna_end": null,
"cdna_length": 6523,
"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": 35,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK6",
"gene_hgnc_id": 19189,
"hgvs_c": "c.4502G>T",
"hgvs_p": "p.Arg1501Leu",
"transcript": "XM_011528152.2",
"protein_id": "XP_011526454.1",
"transcript_support_level": null,
"aa_start": 1501,
"aa_end": null,
"aa_length": 2058,
"cds_start": 4502,
"cds_end": null,
"cds_length": 6177,
"cdna_start": 4586,
"cdna_end": null,
"cdna_length": 6463,
"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": 14,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOCK6",
"gene_hgnc_id": 19189,
"hgvs_c": "c.1805G>T",
"hgvs_p": "p.Arg602Leu",
"transcript": "XM_006722804.4",
"protein_id": "XP_006722867.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 1159,
"cds_start": 1805,
"cds_end": null,
"cds_length": 3480,
"cdna_start": 1906,
"cdna_end": null,
"cdna_length": 3783,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "DOCK6-AS1",
"gene_hgnc_id": 56684,
"hgvs_c": "n.538-2939C>A",
"hgvs_p": null,
"transcript": "ENST00000588634.2",
"protein_id": null,
"transcript_support_level": 4,
"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": 2462,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DOCK6-AS1",
"gene_hgnc_id": 56684,
"hgvs_c": "n.538-2939C>A",
"hgvs_p": null,
"transcript": "NR_134909.1",
"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": 569,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DOCK6-AS1",
"gene_hgnc_id": 56684,
"hgvs_c": "n.538-6780C>A",
"hgvs_p": null,
"transcript": "NR_186345.1",
"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": 2133,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DOCK6",
"gene_hgnc_id": 19189,
"dbsnp": "rs200472954",
"frequency_reference_population": 6.847139e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84714e-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": 0.9147236347198486,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.486,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8506,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.1,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.813,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000294618.12",
"gene_symbol": "DOCK6",
"hgnc_id": 19189,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.4469G>T",
"hgvs_p": "p.Arg1490Leu"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000588634.2",
"gene_symbol": "DOCK6-AS1",
"hgnc_id": 56684,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.538-2939C>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}