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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: 15-69035485-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=69035485&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 69035485,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000388866.8",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOX5",
"gene_hgnc_id": 14874,
"hgvs_c": "c.987C>T",
"hgvs_p": "p.Thr329Thr",
"transcript": "NM_024505.4",
"protein_id": "NP_078781.3",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 765,
"cds_start": 987,
"cds_end": null,
"cds_length": 2298,
"cdna_start": 1028,
"cdna_end": null,
"cdna_length": 8405,
"mane_select": "ENST00000388866.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOX5",
"gene_hgnc_id": 14874,
"hgvs_c": "c.987C>T",
"hgvs_p": "p.Thr329Thr",
"transcript": "ENST00000388866.8",
"protein_id": "ENSP00000373518.3",
"transcript_support_level": 1,
"aa_start": 329,
"aa_end": null,
"aa_length": 765,
"cds_start": 987,
"cds_end": null,
"cds_length": 2298,
"cdna_start": 1028,
"cdna_end": null,
"cdna_length": 8405,
"mane_select": "NM_024505.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"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.933C>T",
"hgvs_p": "p.Thr311Thr",
"transcript": "ENST00000260364.9",
"protein_id": "ENSP00000454143.1",
"transcript_support_level": 1,
"aa_start": 311,
"aa_end": null,
"aa_length": 747,
"cds_start": 933,
"cds_end": null,
"cds_length": 2244,
"cdna_start": 1234,
"cdna_end": null,
"cdna_length": 8592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOX5",
"gene_hgnc_id": 14874,
"hgvs_c": "c.903C>T",
"hgvs_p": "p.Thr301Thr",
"transcript": "ENST00000530406.7",
"protein_id": "ENSP00000432440.2",
"transcript_support_level": 1,
"aa_start": 301,
"aa_end": null,
"aa_length": 737,
"cds_start": 903,
"cds_end": null,
"cds_length": 2214,
"cdna_start": 944,
"cdna_end": null,
"cdna_length": 8321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"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.882C>T",
"hgvs_p": "p.Thr294Thr",
"transcript": "ENST00000703585.1",
"protein_id": "ENSP00000515387.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 730,
"cds_start": 882,
"cds_end": null,
"cds_length": 2193,
"cdna_start": 1067,
"cdna_end": null,
"cdna_length": 2407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"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.849C>T",
"hgvs_p": "p.Thr283Thr",
"transcript": "ENST00000448182.7",
"protein_id": "ENSP00000410887.3",
"transcript_support_level": 1,
"aa_start": 283,
"aa_end": null,
"aa_length": 719,
"cds_start": 849,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 1150,
"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": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOX5",
"gene_hgnc_id": 14874,
"hgvs_c": "n.387C>T",
"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": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOX5",
"gene_hgnc_id": 14874,
"hgvs_c": "c.903C>T",
"hgvs_p": "p.Thr301Thr",
"transcript": "NM_001184779.2",
"protein_id": "NP_001171708.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 737,
"cds_start": 903,
"cds_end": null,
"cds_length": 2214,
"cdna_start": 944,
"cdna_end": null,
"cdna_length": 8321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"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.882C>T",
"hgvs_p": "p.Thr294Thr",
"transcript": "NM_001184780.2",
"protein_id": "NP_001171709.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 730,
"cds_start": 882,
"cds_end": null,
"cds_length": 2193,
"cdna_start": 1046,
"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": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOX5",
"gene_hgnc_id": 14874,
"hgvs_c": "n.4143C>T",
"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": 7,
"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.1234C>T",
"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": 7,
"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.1150C>T",
"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": "rs311889",
"frequency_reference_population": 0.93408966,
"hom_count_reference_population": 708616,
"allele_count_reference_population": 1507645,
"gnomad_exomes_af": 0.941148,
"gnomad_genomes_af": 0.866296,
"gnomad_exomes_ac": 1375800,
"gnomad_genomes_ac": 131845,
"gnomad_exomes_homalt": 650172,
"gnomad_genomes_homalt": 58444,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8700000047683716,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.87,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -4.271,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000388866.8",
"gene_symbol": "NOX5",
"hgnc_id": 14874,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.987C>T",
"hgvs_p": "p.Thr329Thr"
},
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000703585.1",
"gene_symbol": "SPESP1-NOX5",
"hgnc_id": null,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.882C>T",
"hgvs_p": "p.Thr294Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}