← Back to variant description
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: 11-18478718-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=18478718&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 18478718,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_144972.5",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDHAL6A",
"gene_hgnc_id": 28335,
"hgvs_c": "c.847A>G",
"hgvs_p": "p.Ile283Val",
"transcript": "NM_144972.5",
"protein_id": "NP_659409.2",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 332,
"cds_start": 847,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000280706.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_144972.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDHAL6A",
"gene_hgnc_id": 28335,
"hgvs_c": "c.847A>G",
"hgvs_p": "p.Ile283Val",
"transcript": "ENST00000280706.3",
"protein_id": "ENSP00000280706.2",
"transcript_support_level": 2,
"aa_start": 283,
"aa_end": null,
"aa_length": 332,
"cds_start": 847,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_144972.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000280706.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDHAL6A",
"gene_hgnc_id": 28335,
"hgvs_c": "c.847A>G",
"hgvs_p": "p.Ile283Val",
"transcript": "ENST00000396213.7",
"protein_id": "ENSP00000379516.3",
"transcript_support_level": 1,
"aa_start": 283,
"aa_end": null,
"aa_length": 332,
"cds_start": 847,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396213.7"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDHAL6A",
"gene_hgnc_id": 28335,
"hgvs_c": "c.847A>G",
"hgvs_p": "p.Ile283Val",
"transcript": "NM_001144071.2",
"protein_id": "NP_001137543.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 332,
"cds_start": 847,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001144071.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDHAL6A",
"gene_hgnc_id": 28335,
"hgvs_c": "c.1048A>G",
"hgvs_p": "p.Ile350Val",
"transcript": "XM_011519922.3",
"protein_id": "XP_011518224.2",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 399,
"cds_start": 1048,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519922.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDHAL6A",
"gene_hgnc_id": 28335,
"hgvs_c": "c.919A>G",
"hgvs_p": "p.Ile307Val",
"transcript": "XM_005252805.5",
"protein_id": "XP_005252862.2",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 356,
"cds_start": 919,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005252805.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDHAL6A",
"gene_hgnc_id": 28335,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Ile301Val",
"transcript": "XM_011519923.3",
"protein_id": "XP_011518225.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 350,
"cds_start": 901,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519923.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDHAL6A",
"gene_hgnc_id": 28335,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Ile301Val",
"transcript": "XM_011519924.3",
"protein_id": "XP_011518226.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 350,
"cds_start": 901,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519924.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDHAL6A",
"gene_hgnc_id": 28335,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Ile301Val",
"transcript": "XM_011519925.2",
"protein_id": "XP_011518227.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 350,
"cds_start": 901,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519925.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "TSG101",
"gene_hgnc_id": 15971,
"hgvs_c": "c.*21+1807T>C",
"hgvs_p": null,
"transcript": "ENST00000860301.1",
"protein_id": "ENSP00000530360.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 390,
"cds_start": null,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860301.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "TSG101",
"gene_hgnc_id": 15971,
"hgvs_c": "c.*38+1790T>C",
"hgvs_p": null,
"transcript": "ENST00000860302.1",
"protein_id": "ENSP00000530361.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 390,
"cds_start": null,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860302.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "TSG101",
"gene_hgnc_id": 15971,
"hgvs_c": "c.1083+2912T>C",
"hgvs_p": null,
"transcript": "ENST00000536719.5",
"protein_id": "ENSP00000438471.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 365,
"cds_start": null,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000536719.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TSG101",
"gene_hgnc_id": 15971,
"hgvs_c": "n.*61+1767T>C",
"hgvs_p": null,
"transcript": "ENST00000580814.1",
"protein_id": "ENSP00000464386.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000580814.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TSG101",
"gene_hgnc_id": 15971,
"hgvs_c": "n.*182+1185T>C",
"hgvs_p": null,
"transcript": "ENST00000584526.1",
"protein_id": "ENSP00000463213.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000584526.1"
}
],
"gene_symbol": "LDHAL6A",
"gene_hgnc_id": 28335,
"dbsnp": "rs573063684",
"frequency_reference_population": 0.000046633264,
"hom_count_reference_population": 0,
"allele_count_reference_population": 75,
"gnomad_exomes_af": 0.0000473917,
"gnomad_genomes_af": 0.0000393846,
"gnomad_exomes_ac": 69,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07255399227142334,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.193,
"revel_prediction": "Benign",
"alphamissense_score": 0.1335,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.015,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_144972.5",
"gene_symbol": "LDHAL6A",
"hgnc_id": 28335,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.847A>G",
"hgvs_p": "p.Ile283Val"
},
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000860301.1",
"gene_symbol": "TSG101",
"hgnc_id": 15971,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.*21+1807T>C",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}