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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: 18-204585-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=204585&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 204585,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_005151.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP14",
"gene_hgnc_id": 12612,
"hgvs_c": "c.1057T>C",
"hgvs_p": "p.Leu353Leu",
"transcript": "NM_005151.4",
"protein_id": "NP_005142.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 494,
"cds_start": 1057,
"cds_end": null,
"cds_length": 1485,
"cdna_start": 1199,
"cdna_end": null,
"cdna_length": 4972,
"mane_select": "ENST00000261601.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005151.4"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP14",
"gene_hgnc_id": 12612,
"hgvs_c": "c.1057T>C",
"hgvs_p": "p.Leu353Leu",
"transcript": "ENST00000261601.8",
"protein_id": "ENSP00000261601.6",
"transcript_support_level": 1,
"aa_start": 353,
"aa_end": null,
"aa_length": 494,
"cds_start": 1057,
"cds_end": null,
"cds_length": 1485,
"cdna_start": 1199,
"cdna_end": null,
"cdna_length": 4972,
"mane_select": "NM_005151.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261601.8"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP14",
"gene_hgnc_id": 12612,
"hgvs_c": "c.1066T>C",
"hgvs_p": "p.Leu356Leu",
"transcript": "ENST00000947712.1",
"protein_id": "ENSP00000617771.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 497,
"cds_start": 1066,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 1246,
"cdna_end": null,
"cdna_length": 2433,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947712.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP14",
"gene_hgnc_id": 12612,
"hgvs_c": "c.1048T>C",
"hgvs_p": "p.Leu350Leu",
"transcript": "ENST00000873770.1",
"protein_id": "ENSP00000543829.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 491,
"cds_start": 1048,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 1396,
"cdna_end": null,
"cdna_length": 3393,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873770.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP14",
"gene_hgnc_id": 12612,
"hgvs_c": "c.1024T>C",
"hgvs_p": "p.Leu342Leu",
"transcript": "ENST00000400266.7",
"protein_id": "ENSP00000383125.3",
"transcript_support_level": 2,
"aa_start": 342,
"aa_end": null,
"aa_length": 483,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 1187,
"cdna_end": null,
"cdna_length": 1681,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400266.7"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP14",
"gene_hgnc_id": 12612,
"hgvs_c": "c.952T>C",
"hgvs_p": "p.Leu318Leu",
"transcript": "NM_001037334.2",
"protein_id": "NP_001032411.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 459,
"cds_start": 952,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 1094,
"cdna_end": null,
"cdna_length": 4867,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001037334.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP14",
"gene_hgnc_id": 12612,
"hgvs_c": "c.952T>C",
"hgvs_p": "p.Leu318Leu",
"transcript": "ENST00000582707.5",
"protein_id": "ENSP00000464447.1",
"transcript_support_level": 5,
"aa_start": 318,
"aa_end": null,
"aa_length": 459,
"cds_start": 952,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 1268,
"cdna_end": null,
"cdna_length": 1803,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000582707.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP14",
"gene_hgnc_id": 12612,
"hgvs_c": "c.1057T>C",
"hgvs_p": "p.Leu353Leu",
"transcript": "ENST00000873772.1",
"protein_id": "ENSP00000543831.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 458,
"cds_start": 1057,
"cds_end": null,
"cds_length": 1377,
"cdna_start": 1168,
"cdna_end": null,
"cdna_length": 2082,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873772.1"
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP14",
"gene_hgnc_id": 12612,
"hgvs_c": "c.919T>C",
"hgvs_p": "p.Leu307Leu",
"transcript": "ENST00000383589.6",
"protein_id": "ENSP00000373083.2",
"transcript_support_level": 5,
"aa_start": 307,
"aa_end": null,
"aa_length": 448,
"cds_start": 919,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 1027,
"cdna_end": null,
"cdna_length": 2168,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000383589.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "USP14",
"gene_hgnc_id": 12612,
"hgvs_c": "c.1035+1395T>C",
"hgvs_p": null,
"transcript": "ENST00000873771.1",
"protein_id": "ENSP00000543830.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 451,
"cds_start": null,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3027,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873771.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "USP14",
"gene_hgnc_id": 12612,
"hgvs_c": "c.930+1395T>C",
"hgvs_p": null,
"transcript": "ENST00000936898.1",
"protein_id": "ENSP00000606957.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 416,
"cds_start": null,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2892,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936898.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP14",
"gene_hgnc_id": 12612,
"hgvs_c": "n.692T>C",
"hgvs_p": null,
"transcript": "ENST00000578786.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 1104,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000578786.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP14",
"gene_hgnc_id": 12612,
"hgvs_c": "n.1090T>C",
"hgvs_p": null,
"transcript": "ENST00000578942.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 3189,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000578942.5"
}
],
"gene_symbol": "USP14",
"gene_hgnc_id": 12612,
"dbsnp": "rs1433015862",
"frequency_reference_population": 0.000002070402,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.0000020704,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5,
"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": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.98,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_005151.4",
"gene_symbol": "USP14",
"hgnc_id": 12612,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1057T>C",
"hgvs_p": "p.Leu353Leu"
}
],
"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
}