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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: 5-54171882-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=54171882&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 54171882,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_019087.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL15",
"gene_hgnc_id": 25945,
"hgvs_c": "c.95A>T",
"hgvs_p": "p.Glu32Val",
"transcript": "NM_019087.3",
"protein_id": "NP_061960.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 204,
"cds_start": 95,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000504924.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_019087.3"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL15",
"gene_hgnc_id": 25945,
"hgvs_c": "c.95A>T",
"hgvs_p": "p.Glu32Val",
"transcript": "ENST00000504924.6",
"protein_id": "ENSP00000433427.1",
"transcript_support_level": 1,
"aa_start": 32,
"aa_end": null,
"aa_length": 204,
"cds_start": 95,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_019087.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000504924.6"
},
{
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ARL15",
"gene_hgnc_id": 25945,
"hgvs_c": "c.-344-17243A>T",
"hgvs_p": null,
"transcript": "ENST00000502271.5",
"protein_id": "ENSP00000473508.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 25,
"cds_start": null,
"cds_end": null,
"cds_length": 78,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000502271.5"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL15",
"gene_hgnc_id": 25945,
"hgvs_c": "n.192A>T",
"hgvs_p": null,
"transcript": "ENST00000505630.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "retained_intron",
"feature": "ENST00000505630.5"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL15",
"gene_hgnc_id": 25945,
"hgvs_c": "c.95A>T",
"hgvs_p": "p.Glu32Val",
"transcript": "ENST00000507646.2",
"protein_id": "ENSP00000432680.1",
"transcript_support_level": 5,
"aa_start": 32,
"aa_end": null,
"aa_length": 158,
"cds_start": 95,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507646.2"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL15",
"gene_hgnc_id": 25945,
"hgvs_c": "c.278A>T",
"hgvs_p": "p.Glu93Val",
"transcript": "XM_011543498.3",
"protein_id": "XP_011541800.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 265,
"cds_start": 278,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543498.3"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL15",
"gene_hgnc_id": 25945,
"hgvs_c": "c.221A>T",
"hgvs_p": "p.Glu74Val",
"transcript": "XM_011543499.3",
"protein_id": "XP_011541801.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 246,
"cds_start": 221,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543499.3"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL15",
"gene_hgnc_id": 25945,
"hgvs_c": "c.152A>T",
"hgvs_p": "p.Glu51Val",
"transcript": "XM_011543500.3",
"protein_id": "XP_011541802.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 223,
"cds_start": 152,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543500.3"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL15",
"gene_hgnc_id": 25945,
"hgvs_c": "c.101A>T",
"hgvs_p": "p.Glu34Val",
"transcript": "XM_017009598.2",
"protein_id": "XP_016865087.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 206,
"cds_start": 101,
"cds_end": null,
"cds_length": 621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009598.2"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL15",
"gene_hgnc_id": 25945,
"hgvs_c": "c.101A>T",
"hgvs_p": "p.Glu34Val",
"transcript": "XM_047417335.1",
"protein_id": "XP_047273291.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 206,
"cds_start": 101,
"cds_end": null,
"cds_length": 621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417335.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL15",
"gene_hgnc_id": 25945,
"hgvs_c": "c.101A>T",
"hgvs_p": "p.Glu34Val",
"transcript": "XM_047417336.1",
"protein_id": "XP_047273292.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 206,
"cds_start": 101,
"cds_end": null,
"cds_length": 621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417336.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL15",
"gene_hgnc_id": 25945,
"hgvs_c": "c.95A>T",
"hgvs_p": "p.Glu32Val",
"transcript": "XM_047417338.1",
"protein_id": "XP_047273294.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 190,
"cds_start": 95,
"cds_end": null,
"cds_length": 573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417338.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL15",
"gene_hgnc_id": 25945,
"hgvs_c": "c.95A>T",
"hgvs_p": "p.Glu32Val",
"transcript": "XM_047417339.1",
"protein_id": "XP_047273295.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 182,
"cds_start": 95,
"cds_end": null,
"cds_length": 549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417339.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL15",
"gene_hgnc_id": 25945,
"hgvs_c": "c.95A>T",
"hgvs_p": "p.Glu32Val",
"transcript": "XM_047417340.1",
"protein_id": "XP_047273296.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 160,
"cds_start": 95,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417340.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL15",
"gene_hgnc_id": 25945,
"hgvs_c": "n.189A>T",
"hgvs_p": null,
"transcript": "ENST00000505383.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "retained_intron",
"feature": "ENST00000505383.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL15",
"gene_hgnc_id": 25945,
"hgvs_c": "n.168A>T",
"hgvs_p": null,
"transcript": "ENST00000510591.6",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000510591.6"
}
],
"gene_symbol": "ARL15",
"gene_hgnc_id": 25945,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.861630916595459,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.659,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.6933,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.19,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.982,
"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": "NM_019087.3",
"gene_symbol": "ARL15",
"hgnc_id": 25945,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.95A>T",
"hgvs_p": "p.Glu32Val"
}
],
"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
}