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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: 15-32446531-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=32446531&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 32446531,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001277308.1",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGA8O",
"gene_hgnc_id": 44406,
"hgvs_c": "c.1311G>T",
"hgvs_p": "p.Glu437Asp",
"transcript": "NM_001277308.1",
"protein_id": "NP_001264237.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 632,
"cds_start": 1311,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000509311.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001277308.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGA8O",
"gene_hgnc_id": 44406,
"hgvs_c": "c.1311G>T",
"hgvs_p": "p.Glu437Asp",
"transcript": "ENST00000509311.7",
"protein_id": "ENSP00000423159.2",
"transcript_support_level": 5,
"aa_start": 437,
"aa_end": null,
"aa_length": 632,
"cds_start": 1311,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001277308.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000509311.7"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGA8O",
"gene_hgnc_id": 44406,
"hgvs_c": "c.1272G>T",
"hgvs_p": "p.Glu424Asp",
"transcript": "XM_047433006.1",
"protein_id": "XP_047288962.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 619,
"cds_start": 1272,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433006.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGA8O",
"gene_hgnc_id": 44406,
"hgvs_c": "c.1242G>T",
"hgvs_p": "p.Glu414Asp",
"transcript": "XM_011521988.4",
"protein_id": "XP_011520290.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 609,
"cds_start": 1242,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521988.4"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLGA8O",
"gene_hgnc_id": 44406,
"hgvs_c": "c.858G>T",
"hgvs_p": "p.Glu286Asp",
"transcript": "XM_024450042.2",
"protein_id": "XP_024305810.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 481,
"cds_start": 858,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450042.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RN7SL539P",
"gene_hgnc_id": 46555,
"hgvs_c": "n.*143G>T",
"hgvs_p": null,
"transcript": "ENST00000610974.1",
"protein_id": null,
"transcript_support_level": 6,
"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": "misc_RNA",
"feature": "ENST00000610974.1"
}
],
"gene_symbol": "GOLGA8O",
"gene_hgnc_id": 44406,
"dbsnp": "rs772846509",
"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": 0.1302284598350525,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.14,
"revel_prediction": "Benign",
"alphamissense_score": 0.1627,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.66,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.354,
"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": 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": "NM_001277308.1",
"gene_symbol": "GOLGA8O",
"hgnc_id": 44406,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1311G>T",
"hgvs_p": "p.Glu437Asp"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000610974.1",
"gene_symbol": "RN7SL539P",
"hgnc_id": 46555,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*143G>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}