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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: 12-80372020-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=80372020&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "OTOGL",
"hgnc_id": 26901,
"hgvs_c": "c.6737A>G",
"hgvs_p": "p.Asn2246Ser",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_173591.7",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_score": -20,
"allele_count_reference_population": 935439,
"alphamissense_prediction": null,
"alphamissense_score": 0.152,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.62,
"chr": "12",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.00000455907684226986,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2353,
"aa_ref": "N",
"aa_start": 2246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9982,
"cdna_start": 6825,
"cds_end": null,
"cds_length": 7062,
"cds_start": 6737,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 59,
"exon_rank": 57,
"exon_rank_end": null,
"feature": "NM_001378609.3",
"gene_hgnc_id": 26901,
"gene_symbol": "OTOGL",
"hgvs_c": "c.6737A>G",
"hgvs_p": "p.Asn2246Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000547103.7",
"protein_coding": true,
"protein_id": "NP_001365538.2",
"strand": true,
"transcript": "NM_001378609.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2353,
"aa_ref": "N",
"aa_start": 2246,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9982,
"cdna_start": 6825,
"cds_end": null,
"cds_length": 7062,
"cds_start": 6737,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 59,
"exon_rank": 57,
"exon_rank_end": null,
"feature": "ENST00000547103.7",
"gene_hgnc_id": 26901,
"gene_symbol": "OTOGL",
"hgvs_c": "c.6737A>G",
"hgvs_p": "p.Asn2246Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001378609.3",
"protein_coding": true,
"protein_id": "ENSP00000447211.2",
"strand": true,
"transcript": "ENST00000547103.7",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2353,
"aa_ref": "N",
"aa_start": 2246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10554,
"cdna_start": 7397,
"cds_end": null,
"cds_length": 7062,
"cds_start": 6737,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 62,
"exon_rank": 60,
"exon_rank_end": null,
"feature": "NM_001378610.3",
"gene_hgnc_id": 26901,
"gene_symbol": "OTOGL",
"hgvs_c": "c.6737A>G",
"hgvs_p": "p.Asn2246Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365539.2",
"strand": true,
"transcript": "NM_001378610.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2353,
"aa_ref": "N",
"aa_start": 2246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9972,
"cdna_start": 6815,
"cds_end": null,
"cds_length": 7062,
"cds_start": 6737,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 59,
"exon_rank": 57,
"exon_rank_end": null,
"feature": "NM_173591.7",
"gene_hgnc_id": 26901,
"gene_symbol": "OTOGL",
"hgvs_c": "c.6737A>G",
"hgvs_p": "p.Asn2246Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_775862.4",
"strand": true,
"transcript": "NM_173591.7",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2308,
"aa_ref": "N",
"aa_start": 2201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10859,
"cdna_start": 7702,
"cds_end": null,
"cds_length": 6927,
"cds_start": 6602,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 63,
"exon_rank": 61,
"exon_rank_end": null,
"feature": "NM_001368062.3",
"gene_hgnc_id": 26901,
"gene_symbol": "OTOGL",
"hgvs_c": "c.6602A>G",
"hgvs_p": "p.Asn2201Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001354991.2",
"strand": true,
"transcript": "NM_001368062.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2308,
"aa_ref": "N",
"aa_start": 2201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9939,
"cdna_start": 7702,
"cds_end": null,
"cds_length": 6927,
"cds_start": 6602,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 63,
"exon_rank": 61,
"exon_rank_end": null,
"feature": "ENST00000646859.1",
"gene_hgnc_id": 26901,
"gene_symbol": "OTOGL",
"hgvs_c": "c.6602A>G",
"hgvs_p": "p.Asn2201Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496036.1",
"strand": true,
"transcript": "ENST00000646859.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 751,
"aa_ref": "N",
"aa_start": 644,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3289,
"cdna_start": 1933,
"cds_end": null,
"cds_length": 2256,
"cds_start": 1931,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000298820.7",
"gene_hgnc_id": 26901,
"gene_symbol": "OTOGL",
"hgvs_c": "c.1931A>G",
"hgvs_p": "p.Asn644Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000298820.3",
"strand": true,
"transcript": "ENST00000298820.7",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2361,
"aa_ref": "N",
"aa_start": 2254,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10674,
"cdna_start": 7517,
"cds_end": null,
"cds_length": 7086,
"cds_start": 6761,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 62,
"exon_rank": 60,
"exon_rank_end": null,
"feature": "XM_005268802.4",
"gene_hgnc_id": 26901,
"gene_symbol": "OTOGL",
"hgvs_c": "c.6761A>G",
"hgvs_p": "p.Asn2254Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005268859.1",
"strand": true,
"transcript": "XM_005268802.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2326,
"aa_ref": "N",
"aa_start": 2219,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9869,
"cdna_start": 6712,
"cds_end": null,
"cds_length": 6981,
"cds_start": 6656,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 56,
"exon_rank": 54,
"exon_rank_end": null,
"feature": "XM_011538193.2",
"gene_hgnc_id": 26901,
"gene_symbol": "OTOGL",
"hgvs_c": "c.6656A>G",
"hgvs_p": "p.Asn2219Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011536495.2",
"strand": true,
"transcript": "XM_011538193.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2310,
"aa_ref": "N",
"aa_start": 2203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9880,
"cdna_start": 6723,
"cds_end": null,
"cds_length": 6933,
"cds_start": 6608,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 56,
"exon_rank": 54,
"exon_rank_end": null,
"feature": "XM_011538192.3",
"gene_hgnc_id": 26901,
"gene_symbol": "OTOGL",
"hgvs_c": "c.6608A>G",
"hgvs_p": "p.Asn2203Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011536494.1",
"strand": true,
"transcript": "XM_011538192.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2360,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000546620.5",
"gene_hgnc_id": 26901,
"gene_symbol": "OTOGL",
"hgvs_c": "n.993A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000546620.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2087,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000551340.5",
"gene_hgnc_id": 26901,
"gene_symbol": "OTOGL",
"hgvs_c": "n.*451A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000449296.1",
"strand": true,
"transcript": "ENST00000551340.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1828,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000642294.1",
"gene_hgnc_id": 26901,
"gene_symbol": "OTOGL",
"hgvs_c": "n.*579A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000493572.1",
"strand": true,
"transcript": "ENST00000642294.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2087,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000551340.5",
"gene_hgnc_id": 26901,
"gene_symbol": "OTOGL",
"hgvs_c": "n.*451A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000449296.1",
"strand": true,
"transcript": "ENST00000551340.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1828,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000642294.1",
"gene_hgnc_id": 26901,
"gene_symbol": "OTOGL",
"hgvs_c": "n.*579A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000493572.1",
"strand": true,
"transcript": "ENST00000642294.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": "Benign",
"dbscsnv_ada_score": 0.890217693256528,
"dbsnp": "rs1551122",
"effect": "missense_variant,splice_region_variant",
"frequency_reference_population": 0.60793084,
"gene_hgnc_id": 26901,
"gene_symbol": "OTOGL",
"gnomad_exomes_ac": 859074,
"gnomad_exomes_af": 0.619469,
"gnomad_exomes_homalt": 271855,
"gnomad_genomes_ac": 76365,
"gnomad_genomes_af": 0.50262,
"gnomad_genomes_homalt": 22244,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 294099,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign",
"phenotype_combined": "not specified|not provided",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 4.497,
"pos": 80372020,
"ref": "A",
"revel_prediction": "Benign",
"revel_score": 0.161,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.29600000381469727,
"splice_source_selected": "dbscSNV1_RF",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.16,
"transcript": "NM_173591.7"
}
]
}