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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: 15-69028323-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=69028323&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 69028323,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000388866.8",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOX5",
"gene_hgnc_id": 14874,
"hgvs_c": "c.283A>G",
"hgvs_p": "p.Met95Val",
"transcript": "NM_024505.4",
"protein_id": "NP_078781.3",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 765,
"cds_start": 283,
"cds_end": null,
"cds_length": 2298,
"cdna_start": 324,
"cdna_end": null,
"cdna_length": 8405,
"mane_select": "ENST00000388866.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOX5",
"gene_hgnc_id": 14874,
"hgvs_c": "c.283A>G",
"hgvs_p": "p.Met95Val",
"transcript": "ENST00000388866.8",
"protein_id": "ENSP00000373518.3",
"transcript_support_level": 1,
"aa_start": 95,
"aa_end": null,
"aa_length": 765,
"cds_start": 283,
"cds_end": null,
"cds_length": 2298,
"cdna_start": 324,
"cdna_end": null,
"cdna_length": 8405,
"mane_select": "NM_024505.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"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.229A>G",
"hgvs_p": "p.Met77Val",
"transcript": "ENST00000260364.9",
"protein_id": "ENSP00000454143.1",
"transcript_support_level": 1,
"aa_start": 77,
"aa_end": null,
"aa_length": 747,
"cds_start": 229,
"cds_end": null,
"cds_length": 2244,
"cdna_start": 530,
"cdna_end": null,
"cdna_length": 8592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOX5",
"gene_hgnc_id": 14874,
"hgvs_c": "c.283A>G",
"hgvs_p": "p.Met95Val",
"transcript": "ENST00000530406.7",
"protein_id": "ENSP00000432440.2",
"transcript_support_level": 1,
"aa_start": 95,
"aa_end": null,
"aa_length": 737,
"cds_start": 283,
"cds_end": null,
"cds_length": 2214,
"cdna_start": 324,
"cdna_end": null,
"cdna_length": 8321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"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.262A>G",
"hgvs_p": "p.Met88Val",
"transcript": "ENST00000703585.1",
"protein_id": "ENSP00000515387.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 730,
"cds_start": 262,
"cds_end": null,
"cds_length": 2193,
"cdna_start": 447,
"cdna_end": null,
"cdna_length": 2407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"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.229A>G",
"hgvs_p": "p.Met77Val",
"transcript": "ENST00000448182.7",
"protein_id": "ENSP00000410887.3",
"transcript_support_level": 1,
"aa_start": 77,
"aa_end": null,
"aa_length": 719,
"cds_start": 229,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 530,
"cdna_end": null,
"cdna_length": 2498,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOX5",
"gene_hgnc_id": 14874,
"hgvs_c": "c.283A>G",
"hgvs_p": "p.Met95Val",
"transcript": "NM_001184779.2",
"protein_id": "NP_001171708.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 737,
"cds_start": 283,
"cds_end": null,
"cds_length": 2214,
"cdna_start": 324,
"cdna_end": null,
"cdna_length": 8321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"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.262A>G",
"hgvs_p": "p.Met88Val",
"transcript": "NM_001184780.2",
"protein_id": "NP_001171709.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 730,
"cds_start": 262,
"cds_end": null,
"cds_length": 2193,
"cdna_start": 426,
"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": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOX5",
"gene_hgnc_id": 14874,
"hgvs_c": "n.287A>G",
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPESP1-NOX5",
"gene_hgnc_id": null,
"hgvs_c": "n.551A>G",
"hgvs_p": null,
"transcript": "ENST00000557966.1",
"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": 1117,
"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": 4,
"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.530A>G",
"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": 4,
"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.530A>G",
"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": "rs34097994",
"frequency_reference_population": 0.0005233492,
"hom_count_reference_population": 3,
"allele_count_reference_population": 844,
"gnomad_exomes_af": 0.000299241,
"gnomad_genomes_af": 0.00267183,
"gnomad_exomes_ac": 437,
"gnomad_genomes_ac": 407,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 2,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.006839096546173096,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.083,
"revel_prediction": "Benign",
"alphamissense_score": 0.0634,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.67,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000388866.8",
"gene_symbol": "NOX5",
"hgnc_id": 14874,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.283A>G",
"hgvs_p": "p.Met95Val"
},
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000703585.1",
"gene_symbol": "SPESP1-NOX5",
"hgnc_id": null,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.262A>G",
"hgvs_p": "p.Met88Val"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}