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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: 12-80209515-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=80209515&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 80209515,
"ref": "G",
"alt": "T",
"effect": "splice_region_variant,intron_variant",
"transcript": "NM_001378609.3",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "OTOGL",
"gene_hgnc_id": 26901,
"hgvs_c": "c.79+5G>T",
"hgvs_p": null,
"transcript": "NM_001378609.3",
"protein_id": "NP_001365538.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2353,
"cds_start": -4,
"cds_end": null,
"cds_length": 7062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9982,
"mane_select": "ENST00000547103.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "OTOGL",
"gene_hgnc_id": 26901,
"hgvs_c": "c.79+5G>T",
"hgvs_p": null,
"transcript": "ENST00000547103.7",
"protein_id": "ENSP00000447211.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2353,
"cds_start": -4,
"cds_end": null,
"cds_length": 7062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9982,
"mane_select": "NM_001378609.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "OTOGL",
"gene_hgnc_id": 26901,
"hgvs_c": "c.79+5G>T",
"hgvs_p": null,
"transcript": "NM_001378610.3",
"protein_id": "NP_001365539.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2353,
"cds_start": -4,
"cds_end": null,
"cds_length": 7062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "OTOGL",
"gene_hgnc_id": 26901,
"hgvs_c": "c.79+5G>T",
"hgvs_p": null,
"transcript": "NM_173591.7",
"protein_id": "NP_775862.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2353,
"cds_start": -4,
"cds_end": null,
"cds_length": 7062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9972,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "OTOGL",
"gene_hgnc_id": 26901,
"hgvs_c": "c.79+5G>T",
"hgvs_p": null,
"transcript": "NM_001368062.3",
"protein_id": "NP_001354991.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2308,
"cds_start": -4,
"cds_end": null,
"cds_length": 6927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "OTOGL",
"gene_hgnc_id": 26901,
"hgvs_c": "c.79+5G>T",
"hgvs_p": null,
"transcript": "ENST00000646859.1",
"protein_id": "ENSP00000496036.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2308,
"cds_start": -4,
"cds_end": null,
"cds_length": 6927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "OTOGL",
"gene_hgnc_id": 26901,
"hgvs_c": "n.739+5G>T",
"hgvs_p": null,
"transcript": "ENST00000643417.1",
"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": 3754,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "OTOGL",
"gene_hgnc_id": 26901,
"hgvs_c": "c.103+5G>T",
"hgvs_p": null,
"transcript": "XM_005268802.4",
"protein_id": "XP_005268859.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2361,
"cds_start": -4,
"cds_end": null,
"cds_length": 7086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "OTOGL",
"gene_hgnc_id": 26901,
"dbsnp": "rs1477091831",
"frequency_reference_population": 0.0000015473074,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000154731,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.23000000417232513,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.6460000276565552,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.23,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.988,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.978645474055647,
"dbscsnv_ada_prediction": "Pathogenic",
"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_001378609.3",
"gene_symbol": "OTOGL",
"hgnc_id": 26901,
"effects": [
"splice_region_variant",
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.79+5G>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
}