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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: 12-80253530-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=80253530&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 80253530,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000547103.7",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOGL",
"gene_hgnc_id": 26901,
"hgvs_c": "c.1350A>G",
"hgvs_p": "p.Leu450Leu",
"transcript": "NM_001378609.3",
"protein_id": "NP_001365538.2",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 2353,
"cds_start": 1350,
"cds_end": null,
"cds_length": 7062,
"cdna_start": 1438,
"cdna_end": null,
"cdna_length": 9982,
"mane_select": "ENST00000547103.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOGL",
"gene_hgnc_id": 26901,
"hgvs_c": "c.1350A>G",
"hgvs_p": "p.Leu450Leu",
"transcript": "ENST00000547103.7",
"protein_id": "ENSP00000447211.2",
"transcript_support_level": 5,
"aa_start": 450,
"aa_end": null,
"aa_length": 2353,
"cds_start": 1350,
"cds_end": null,
"cds_length": 7062,
"cdna_start": 1438,
"cdna_end": null,
"cdna_length": 9982,
"mane_select": "NM_001378609.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOGL",
"gene_hgnc_id": 26901,
"hgvs_c": "c.1350A>G",
"hgvs_p": "p.Leu450Leu",
"transcript": "NM_001378610.3",
"protein_id": "NP_001365539.2",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 2353,
"cds_start": 1350,
"cds_end": null,
"cds_length": 7062,
"cdna_start": 2010,
"cdna_end": null,
"cdna_length": 10554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOGL",
"gene_hgnc_id": 26901,
"hgvs_c": "c.1350A>G",
"hgvs_p": "p.Leu450Leu",
"transcript": "NM_173591.7",
"protein_id": "NP_775862.4",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 2353,
"cds_start": 1350,
"cds_end": null,
"cds_length": 7062,
"cdna_start": 1428,
"cdna_end": null,
"cdna_length": 9972,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOGL",
"gene_hgnc_id": 26901,
"hgvs_c": "c.1350A>G",
"hgvs_p": "p.Leu450Leu",
"transcript": "NM_001368062.3",
"protein_id": "NP_001354991.2",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 2308,
"cds_start": 1350,
"cds_end": null,
"cds_length": 6927,
"cdna_start": 2450,
"cdna_end": null,
"cdna_length": 10859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOGL",
"gene_hgnc_id": 26901,
"hgvs_c": "c.1350A>G",
"hgvs_p": "p.Leu450Leu",
"transcript": "ENST00000646859.1",
"protein_id": "ENSP00000496036.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 2308,
"cds_start": 1350,
"cds_end": null,
"cds_length": 6927,
"cdna_start": 2450,
"cdna_end": null,
"cdna_length": 9939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOGL",
"gene_hgnc_id": 26901,
"hgvs_c": "c.1374A>G",
"hgvs_p": "p.Leu458Leu",
"transcript": "XM_005268802.4",
"protein_id": "XP_005268859.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 2361,
"cds_start": 1374,
"cds_end": null,
"cds_length": 7086,
"cdna_start": 2130,
"cdna_end": null,
"cdna_length": 10674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOGL",
"gene_hgnc_id": 26901,
"hgvs_c": "c.1269A>G",
"hgvs_p": "p.Leu423Leu",
"transcript": "XM_011538193.2",
"protein_id": "XP_011536495.2",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 2326,
"cds_start": 1269,
"cds_end": null,
"cds_length": 6981,
"cdna_start": 1325,
"cdna_end": null,
"cdna_length": 9869,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOGL",
"gene_hgnc_id": 26901,
"hgvs_c": "c.1221A>G",
"hgvs_p": "p.Leu407Leu",
"transcript": "XM_011538192.3",
"protein_id": "XP_011536494.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 2310,
"cds_start": 1221,
"cds_end": null,
"cds_length": 6933,
"cdna_start": 1336,
"cdna_end": null,
"cdna_length": 9880,
"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": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OTOGL",
"gene_hgnc_id": 26901,
"hgvs_c": "n.2010A>G",
"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
}
],
"gene_symbol": "OTOGL",
"gene_hgnc_id": 26901,
"dbsnp": "rs557104053",
"frequency_reference_population": 0.00026221143,
"hom_count_reference_population": 2,
"allele_count_reference_population": 423,
"gnomad_exomes_af": 0.000272426,
"gnomad_genomes_af": 0.000164197,
"gnomad_exomes_ac": 398,
"gnomad_genomes_ac": 25,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.47999998927116394,
"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": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.676,
"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": -17,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1",
"acmg_by_gene": [
{
"score": -17,
"benign_score": 17,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1"
],
"verdict": "Benign",
"transcript": "ENST00000547103.7",
"gene_symbol": "OTOGL",
"hgnc_id": 26901,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1350A>G",
"hgvs_p": "p.Leu450Leu"
}
],
"clinvar_disease": "OTOGL-related disorder,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:2",
"phenotype_combined": "not specified|not provided|OTOGL-related disorder",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}