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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: 13-75560775-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=75560775&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 75560775,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_006002.5",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UCHL3",
"gene_hgnc_id": 12515,
"hgvs_c": "c.77A>T",
"hgvs_p": "p.His26Leu",
"transcript": "NM_006002.5",
"protein_id": "NP_005993.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 230,
"cds_start": 77,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000377595.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006002.5"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UCHL3",
"gene_hgnc_id": 12515,
"hgvs_c": "c.77A>T",
"hgvs_p": "p.His26Leu",
"transcript": "ENST00000377595.8",
"protein_id": "ENSP00000366819.3",
"transcript_support_level": 1,
"aa_start": 26,
"aa_end": null,
"aa_length": 230,
"cds_start": 77,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006002.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377595.8"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UCHL3",
"gene_hgnc_id": 12515,
"hgvs_c": "c.77A>T",
"hgvs_p": "p.His26Leu",
"transcript": "ENST00000963592.1",
"protein_id": "ENSP00000633651.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 237,
"cds_start": 77,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963592.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UCHL3",
"gene_hgnc_id": 12515,
"hgvs_c": "c.77A>T",
"hgvs_p": "p.His26Leu",
"transcript": "ENST00000963593.1",
"protein_id": "ENSP00000633652.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 232,
"cds_start": 77,
"cds_end": null,
"cds_length": 699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963593.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UCHL3",
"gene_hgnc_id": 12515,
"hgvs_c": "c.65A>T",
"hgvs_p": "p.His22Leu",
"transcript": "ENST00000869068.1",
"protein_id": "ENSP00000539127.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 226,
"cds_start": 65,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869068.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UCHL3",
"gene_hgnc_id": 12515,
"hgvs_c": "c.77A>T",
"hgvs_p": "p.His26Leu",
"transcript": "XM_011535212.2",
"protein_id": "XP_011533514.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 294,
"cds_start": 77,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535212.2"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UCHL3",
"gene_hgnc_id": 12515,
"hgvs_c": "c.65A>T",
"hgvs_p": "p.His22Leu",
"transcript": "XM_011535213.3",
"protein_id": "XP_011533515.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 290,
"cds_start": 65,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535213.3"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UCHL3",
"gene_hgnc_id": 12515,
"hgvs_c": "c.77A>T",
"hgvs_p": "p.His26Leu",
"transcript": "XM_017020725.2",
"protein_id": "XP_016876214.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 261,
"cds_start": 77,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020725.2"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UCHL3",
"gene_hgnc_id": 12515,
"hgvs_c": "c.77A>T",
"hgvs_p": "p.His26Leu",
"transcript": "XM_017020726.2",
"protein_id": "XP_016876215.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 252,
"cds_start": 77,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020726.2"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UCHL3",
"gene_hgnc_id": 12515,
"hgvs_c": "c.65A>T",
"hgvs_p": "p.His22Leu",
"transcript": "XM_017020727.2",
"protein_id": "XP_016876216.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 226,
"cds_start": 65,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020727.2"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UCHL3",
"gene_hgnc_id": 12515,
"hgvs_c": "c.77A>T",
"hgvs_p": "p.His26Leu",
"transcript": "XM_047430582.1",
"protein_id": "XP_047286538.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 197,
"cds_start": 77,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430582.1"
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UCHL3",
"gene_hgnc_id": 12515,
"hgvs_c": "c.77A>T",
"hgvs_p": "p.His26Leu",
"transcript": "XM_047430583.1",
"protein_id": "XP_047286539.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 188,
"cds_start": 77,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430583.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UCHL3",
"gene_hgnc_id": 12515,
"hgvs_c": "c.-32A>T",
"hgvs_p": null,
"transcript": "NM_001270952.2",
"protein_id": "NP_001257881.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 194,
"cds_start": null,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270952.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UCHL3",
"gene_hgnc_id": 12515,
"hgvs_c": "c.-32A>T",
"hgvs_p": null,
"transcript": "XM_011535214.3",
"protein_id": "XP_011533516.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 258,
"cds_start": null,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535214.3"
},
{
"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": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "UCHL3",
"gene_hgnc_id": 12515,
"hgvs_c": "c.55-5920A>T",
"hgvs_p": null,
"transcript": "ENST00000963591.1",
"protein_id": "ENSP00000633650.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 187,
"cds_start": null,
"cds_end": null,
"cds_length": 564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963591.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UCHL3",
"gene_hgnc_id": 12515,
"hgvs_c": "n.223A>T",
"hgvs_p": null,
"transcript": "ENST00000471792.6",
"protein_id": null,
"transcript_support_level": 3,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000471792.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000261553",
"gene_hgnc_id": null,
"hgvs_c": "n.125A>T",
"hgvs_p": null,
"transcript": "ENST00000563635.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000563635.5"
}
],
"gene_symbol": "UCHL3",
"gene_hgnc_id": 12515,
"dbsnp": "rs781516708",
"frequency_reference_population": 0.000009372517,
"hom_count_reference_population": 0,
"allele_count_reference_population": 15,
"gnomad_exomes_af": 0.00000897334,
"gnomad_genomes_af": 0.000013185,
"gnomad_exomes_ac": 13,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1980748176574707,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.098,
"revel_prediction": "Benign",
"alphamissense_score": 0.1192,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.263,
"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": 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_006002.5",
"gene_symbol": "UCHL3",
"hgnc_id": 12515,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.77A>T",
"hgvs_p": "p.His26Leu"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000563635.5",
"gene_symbol": "ENSG00000261553",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.125A>T",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}