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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: 4-38774699-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=38774699&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 38774699,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000308973.9",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLR10",
"gene_hgnc_id": 15634,
"hgvs_c": "c.892G>A",
"hgvs_p": "p.Val298Ile",
"transcript": "NM_030956.4",
"protein_id": "NP_112218.2",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 811,
"cds_start": 892,
"cds_end": null,
"cds_length": 2436,
"cdna_start": 1530,
"cdna_end": null,
"cdna_length": 3991,
"mane_select": "ENST00000308973.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLR10",
"gene_hgnc_id": 15634,
"hgvs_c": "c.892G>A",
"hgvs_p": "p.Val298Ile",
"transcript": "ENST00000308973.9",
"protein_id": "ENSP00000308925.4",
"transcript_support_level": 5,
"aa_start": 298,
"aa_end": null,
"aa_length": 811,
"cds_start": 892,
"cds_end": null,
"cds_length": 2436,
"cdna_start": 1530,
"cdna_end": null,
"cdna_length": 3991,
"mane_select": "NM_030956.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLR10",
"gene_hgnc_id": 15634,
"hgvs_c": "c.892G>A",
"hgvs_p": "p.Val298Ile",
"transcript": "ENST00000361424.6",
"protein_id": "ENSP00000354459.2",
"transcript_support_level": 1,
"aa_start": 298,
"aa_end": null,
"aa_length": 811,
"cds_start": 892,
"cds_end": null,
"cds_length": 2436,
"cdna_start": 1024,
"cdna_end": null,
"cdna_length": 3484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLR10",
"gene_hgnc_id": 15634,
"hgvs_c": "c.892G>A",
"hgvs_p": "p.Val298Ile",
"transcript": "ENST00000506111.1",
"protein_id": "ENSP00000421483.1",
"transcript_support_level": 1,
"aa_start": 298,
"aa_end": null,
"aa_length": 811,
"cds_start": 892,
"cds_end": null,
"cds_length": 2436,
"cdna_start": 1376,
"cdna_end": null,
"cdna_length": 3462,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLR10",
"gene_hgnc_id": 15634,
"hgvs_c": "c.892G>A",
"hgvs_p": "p.Val298Ile",
"transcript": "ENST00000508334.1",
"protein_id": "ENSP00000424923.1",
"transcript_support_level": 1,
"aa_start": 298,
"aa_end": null,
"aa_length": 811,
"cds_start": 892,
"cds_end": null,
"cds_length": 2436,
"cdna_start": 1042,
"cdna_end": null,
"cdna_length": 2616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLR10",
"gene_hgnc_id": 15634,
"hgvs_c": "c.892G>A",
"hgvs_p": "p.Val298Ile",
"transcript": "NM_001017388.3",
"protein_id": "NP_001017388.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 811,
"cds_start": 892,
"cds_end": null,
"cds_length": 2436,
"cdna_start": 1024,
"cdna_end": null,
"cdna_length": 3485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLR10",
"gene_hgnc_id": 15634,
"hgvs_c": "c.892G>A",
"hgvs_p": "p.Val298Ile",
"transcript": "NM_001195106.2",
"protein_id": "NP_001182035.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 811,
"cds_start": 892,
"cds_end": null,
"cds_length": 2436,
"cdna_start": 1341,
"cdna_end": null,
"cdna_length": 3802,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLR10",
"gene_hgnc_id": 15634,
"hgvs_c": "c.892G>A",
"hgvs_p": "p.Val298Ile",
"transcript": "NM_001195107.2",
"protein_id": "NP_001182036.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 811,
"cds_start": 892,
"cds_end": null,
"cds_length": 2436,
"cdna_start": 1213,
"cdna_end": null,
"cdna_length": 3674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLR10",
"gene_hgnc_id": 15634,
"hgvs_c": "c.892G>A",
"hgvs_p": "p.Val298Ile",
"transcript": "ENST00000613579.4",
"protein_id": "ENSP00000478206.1",
"transcript_support_level": 3,
"aa_start": 298,
"aa_end": null,
"aa_length": 811,
"cds_start": 892,
"cds_end": null,
"cds_length": 2436,
"cdna_start": 1341,
"cdna_end": null,
"cdna_length": 3801,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLR10",
"gene_hgnc_id": 15634,
"hgvs_c": "c.892G>A",
"hgvs_p": "p.Val298Ile",
"transcript": "ENST00000622002.4",
"protein_id": "ENSP00000478985.1",
"transcript_support_level": 3,
"aa_start": 298,
"aa_end": null,
"aa_length": 811,
"cds_start": 892,
"cds_end": null,
"cds_length": 2436,
"cdna_start": 1213,
"cdna_end": null,
"cdna_length": 3673,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLR10",
"gene_hgnc_id": 15634,
"hgvs_c": "c.850G>A",
"hgvs_p": "p.Val284Ile",
"transcript": "NM_001195108.2",
"protein_id": "NP_001182037.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 797,
"cds_start": 850,
"cds_end": null,
"cds_length": 2394,
"cdna_start": 1244,
"cdna_end": null,
"cdna_length": 3705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLR10",
"gene_hgnc_id": 15634,
"hgvs_c": "c.892G>A",
"hgvs_p": "p.Val298Ile",
"transcript": "XM_011513762.3",
"protein_id": "XP_011512064.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 811,
"cds_start": 892,
"cds_end": null,
"cds_length": 2436,
"cdna_start": 1311,
"cdna_end": null,
"cdna_length": 3772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLR10",
"gene_hgnc_id": 15634,
"hgvs_c": "c.892G>A",
"hgvs_p": "p.Val298Ile",
"transcript": "XM_047416224.1",
"protein_id": "XP_047272180.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 811,
"cds_start": 892,
"cds_end": null,
"cds_length": 2436,
"cdna_start": 8024,
"cdna_end": null,
"cdna_length": 10485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLR10",
"gene_hgnc_id": 15634,
"hgvs_c": "c.892G>A",
"hgvs_p": "p.Val298Ile",
"transcript": "XM_047416225.1",
"protein_id": "XP_047272181.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 811,
"cds_start": 892,
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"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLR10",
"gene_hgnc_id": 15634,
"hgvs_c": "c.892G>A",
"hgvs_p": "p.Val298Ile",
"transcript": "XM_047416226.1",
"protein_id": "XP_047272182.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 811,
"cds_start": 892,
"cds_end": null,
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"cdna_start": 7835,
"cdna_end": null,
"cdna_length": 10296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLR10",
"gene_hgnc_id": 15634,
"hgvs_c": "c.850G>A",
"hgvs_p": "p.Val284Ile",
"transcript": "XM_011513760.3",
"protein_id": "XP_011512062.1",
"transcript_support_level": null,
"aa_start": 284,
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"aa_length": 797,
"cds_start": 850,
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"cdna_start": 927,
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"cdna_length": 3388,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLR10",
"gene_hgnc_id": 15634,
"hgvs_c": "c.850G>A",
"hgvs_p": "p.Val284Ile",
"transcript": "XM_047416227.1",
"protein_id": "XP_047272183.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 797,
"cds_start": 850,
"cds_end": null,
"cds_length": 2394,
"cdna_start": 7738,
"cdna_end": null,
"cdna_length": 10199,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TLR10",
"gene_hgnc_id": 15634,
"dbsnp": "rs11466651",
"frequency_reference_population": 0.04178714,
"hom_count_reference_population": 2753,
"allele_count_reference_population": 65671,
"gnomad_exomes_af": 0.0410789,
"gnomad_genomes_af": 0.0483884,
"gnomad_exomes_ac": 58303,
"gnomad_genomes_ac": 7368,
"gnomad_exomes_homalt": 2426,
"gnomad_genomes_homalt": 327,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.001240462064743042,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.185,
"revel_prediction": "Benign",
"alphamissense_score": 0.0825,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.179,
"phylop100way_prediction": "Benign",
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000308973.9",
"gene_symbol": "TLR10",
"hgnc_id": 15634,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.892G>A",
"hgvs_p": "p.Val298Ile"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}