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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: 17-74919578-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=74919578&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 74919578,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000614341.5",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USH1G",
"gene_hgnc_id": 16356,
"hgvs_c": "c.1258C>T",
"hgvs_p": "p.Leu420Leu",
"transcript": "NM_173477.5",
"protein_id": "NP_775748.2",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 461,
"cds_start": 1258,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1440,
"cdna_end": null,
"cdna_length": 3558,
"mane_select": "ENST00000614341.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USH1G",
"gene_hgnc_id": 16356,
"hgvs_c": "c.1258C>T",
"hgvs_p": "p.Leu420Leu",
"transcript": "ENST00000614341.5",
"protein_id": "ENSP00000480279.1",
"transcript_support_level": 1,
"aa_start": 420,
"aa_end": null,
"aa_length": 461,
"cds_start": 1258,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1440,
"cdna_end": null,
"cdna_length": 3558,
"mane_select": "NM_173477.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USH1G",
"gene_hgnc_id": 16356,
"hgvs_c": "c.949C>T",
"hgvs_p": "p.Leu317Leu",
"transcript": "NM_001282489.3",
"protein_id": "NP_001269418.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 358,
"cds_start": 949,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 1387,
"cdna_end": null,
"cdna_length": 3505,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USH1G",
"gene_hgnc_id": 16356,
"hgvs_c": "c.949C>T",
"hgvs_p": "p.Leu317Leu",
"transcript": "XM_011524296.2",
"protein_id": "XP_011522598.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 358,
"cds_start": 949,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 1421,
"cdna_end": null,
"cdna_length": 3539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USH1G",
"gene_hgnc_id": 16356,
"hgvs_c": "n.*857C>T",
"hgvs_p": null,
"transcript": "ENST00000579243.1",
"protein_id": "ENSP00000462568.1",
"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": 1673,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USH1G",
"gene_hgnc_id": 16356,
"hgvs_c": "n.*857C>T",
"hgvs_p": null,
"transcript": "ENST00000579243.1",
"protein_id": "ENSP00000462568.1",
"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": 1673,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "USH1G",
"gene_hgnc_id": 16356,
"dbsnp": "rs139897506",
"frequency_reference_population": 0.0000018603037,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 6.84733e-7,
"gnomad_genomes_af": 0.0000131392,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4399999976158142,
"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": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.923,
"phylop100way_prediction": "Uncertain_significance",
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000614341.5",
"gene_symbol": "USH1G",
"hgnc_id": 16356,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1258C>T",
"hgvs_p": "p.Leu420Leu"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}