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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: 15-69037058-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=69037058&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 69037058,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000388866.8",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOX5",
"gene_hgnc_id": 14874,
"hgvs_c": "c.1219C>A",
"hgvs_p": "p.Leu407Ile",
"transcript": "NM_024505.4",
"protein_id": "NP_078781.3",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 765,
"cds_start": 1219,
"cds_end": null,
"cds_length": 2298,
"cdna_start": 1260,
"cdna_end": null,
"cdna_length": 8405,
"mane_select": "ENST00000388866.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOX5",
"gene_hgnc_id": 14874,
"hgvs_c": "c.1219C>A",
"hgvs_p": "p.Leu407Ile",
"transcript": "ENST00000388866.8",
"protein_id": "ENSP00000373518.3",
"transcript_support_level": 1,
"aa_start": 407,
"aa_end": null,
"aa_length": 765,
"cds_start": 1219,
"cds_end": null,
"cds_length": 2298,
"cdna_start": 1260,
"cdna_end": null,
"cdna_length": 8405,
"mane_select": "NM_024505.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPESP1-NOX5",
"gene_hgnc_id": null,
"hgvs_c": "c.1165C>A",
"hgvs_p": "p.Leu389Ile",
"transcript": "ENST00000260364.9",
"protein_id": "ENSP00000454143.1",
"transcript_support_level": 1,
"aa_start": 389,
"aa_end": null,
"aa_length": 747,
"cds_start": 1165,
"cds_end": null,
"cds_length": 2244,
"cdna_start": 1466,
"cdna_end": null,
"cdna_length": 8592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOX5",
"gene_hgnc_id": 14874,
"hgvs_c": "c.1135C>A",
"hgvs_p": "p.Leu379Ile",
"transcript": "ENST00000530406.7",
"protein_id": "ENSP00000432440.2",
"transcript_support_level": 1,
"aa_start": 379,
"aa_end": null,
"aa_length": 737,
"cds_start": 1135,
"cds_end": null,
"cds_length": 2214,
"cdna_start": 1176,
"cdna_end": null,
"cdna_length": 8321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPESP1-NOX5",
"gene_hgnc_id": null,
"hgvs_c": "c.1114C>A",
"hgvs_p": "p.Leu372Ile",
"transcript": "ENST00000703585.1",
"protein_id": "ENSP00000515387.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 730,
"cds_start": 1114,
"cds_end": null,
"cds_length": 2193,
"cdna_start": 1299,
"cdna_end": null,
"cdna_length": 2407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPESP1-NOX5",
"gene_hgnc_id": null,
"hgvs_c": "c.1081C>A",
"hgvs_p": "p.Leu361Ile",
"transcript": "ENST00000448182.7",
"protein_id": "ENSP00000410887.3",
"transcript_support_level": 1,
"aa_start": 361,
"aa_end": null,
"aa_length": 719,
"cds_start": 1081,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 1382,
"cdna_end": null,
"cdna_length": 2498,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOX5",
"gene_hgnc_id": 14874,
"hgvs_c": "n.619C>A",
"hgvs_p": null,
"transcript": "ENST00000525143.5",
"protein_id": "ENSP00000455703.1",
"transcript_support_level": 1,
"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": 1565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOX5",
"gene_hgnc_id": 14874,
"hgvs_c": "c.1135C>A",
"hgvs_p": "p.Leu379Ile",
"transcript": "NM_001184779.2",
"protein_id": "NP_001171708.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 737,
"cds_start": 1135,
"cds_end": null,
"cds_length": 2214,
"cdna_start": 1176,
"cdna_end": null,
"cdna_length": 8321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPESP1-NOX5",
"gene_hgnc_id": null,
"hgvs_c": "c.1114C>A",
"hgvs_p": "p.Leu372Ile",
"transcript": "NM_001184780.2",
"protein_id": "NP_001171709.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 730,
"cds_start": 1114,
"cds_end": null,
"cds_length": 2193,
"cdna_start": 1278,
"cdna_end": null,
"cdna_length": 8423,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOX5",
"gene_hgnc_id": 14874,
"hgvs_c": "n.4375C>A",
"hgvs_p": null,
"transcript": "ENST00000527315.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 5880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPESP1-NOX5",
"gene_hgnc_id": null,
"hgvs_c": "n.1466C>A",
"hgvs_p": null,
"transcript": "NR_033671.3",
"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": 8611,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPESP1-NOX5",
"gene_hgnc_id": null,
"hgvs_c": "n.1382C>A",
"hgvs_p": null,
"transcript": "NR_033672.2",
"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": 8527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NOX5",
"gene_hgnc_id": 14874,
"dbsnp": "rs77073843",
"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": 0.14924055337905884,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.205,
"revel_prediction": "Benign",
"alphamissense_score": 0.1033,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.28,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.426,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000388866.8",
"gene_symbol": "NOX5",
"hgnc_id": 14874,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1219C>A",
"hgvs_p": "p.Leu407Ile"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000703585.1",
"gene_symbol": "SPESP1-NOX5",
"hgnc_id": null,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1114C>A",
"hgvs_p": "p.Leu372Ile"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}