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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: 12-95533181-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=95533181&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "USP44",
"hgnc_id": 20064,
"hgvs_c": "c.1076G>A",
"hgvs_p": "p.Gly359Glu",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_032147.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.2107,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.05,
"chr": "12",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.7272404432296753,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 712,
"aa_ref": "G",
"aa_start": 359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4008,
"cdna_start": 1351,
"cds_end": null,
"cds_length": 2139,
"cds_start": 1076,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_032147.5",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "c.1076G>A",
"hgvs_p": "p.Gly359Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000258499.8",
"protein_coding": true,
"protein_id": "NP_115523.2",
"strand": false,
"transcript": "NM_032147.5",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 712,
"aa_ref": "G",
"aa_start": 359,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4008,
"cdna_start": 1351,
"cds_end": null,
"cds_length": 2139,
"cds_start": 1076,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000258499.8",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "c.1076G>A",
"hgvs_p": "p.Gly359Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_032147.5",
"protein_coding": true,
"protein_id": "ENSP00000258499.3",
"strand": false,
"transcript": "ENST00000258499.8",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 712,
"aa_ref": "G",
"aa_start": 359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3161,
"cdna_start": 1220,
"cds_end": null,
"cds_length": 2139,
"cds_start": 1076,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000393091.6",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "c.1076G>A",
"hgvs_p": "p.Gly359Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376806.2",
"strand": false,
"transcript": "ENST00000393091.6",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 712,
"aa_ref": "G",
"aa_start": 359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2499,
"cdna_start": 1436,
"cds_end": null,
"cds_length": 2139,
"cds_start": 1076,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000537435.2",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "c.1076G>A",
"hgvs_p": "p.Gly359Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000442629.2",
"strand": false,
"transcript": "ENST00000537435.2",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 807,
"aa_ref": "G",
"aa_start": 359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4291,
"cdna_start": 1349,
"cds_end": null,
"cds_length": 2424,
"cds_start": 1076,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000916592.1",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "c.1076G>A",
"hgvs_p": "p.Gly359Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586651.1",
"strand": false,
"transcript": "ENST00000916592.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 807,
"aa_ref": "G",
"aa_start": 359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4125,
"cdna_start": 1190,
"cds_end": null,
"cds_length": 2424,
"cds_start": 1076,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000916615.1",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "c.1076G>A",
"hgvs_p": "p.Gly359Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586674.1",
"strand": false,
"transcript": "ENST00000916615.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 782,
"aa_ref": "G",
"aa_start": 359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4221,
"cdna_start": 1357,
"cds_end": null,
"cds_length": 2349,
"cds_start": 1076,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000916591.1",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "c.1076G>A",
"hgvs_p": "p.Gly359Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586650.1",
"strand": false,
"transcript": "ENST00000916591.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 782,
"aa_ref": "G",
"aa_start": 359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4063,
"cdna_start": 1196,
"cds_end": null,
"cds_length": 2349,
"cds_start": 1076,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000916605.1",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "c.1076G>A",
"hgvs_p": "p.Gly359Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586664.1",
"strand": false,
"transcript": "ENST00000916605.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 743,
"aa_ref": "G",
"aa_start": 359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4082,
"cdna_start": 1332,
"cds_end": null,
"cds_length": 2232,
"cds_start": 1076,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000916595.1",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "c.1076G>A",
"hgvs_p": "p.Gly359Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586654.1",
"strand": false,
"transcript": "ENST00000916595.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 743,
"aa_ref": "G",
"aa_start": 359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3955,
"cdna_start": 1205,
"cds_end": null,
"cds_length": 2232,
"cds_start": 1076,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000916602.1",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "c.1076G>A",
"hgvs_p": "p.Gly359Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586661.1",
"strand": false,
"transcript": "ENST00000916602.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 743,
"aa_ref": "G",
"aa_start": 359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4232,
"cdna_start": 1484,
"cds_end": null,
"cds_length": 2232,
"cds_start": 1076,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000916616.1",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "c.1076G>A",
"hgvs_p": "p.Gly359Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586675.1",
"strand": false,
"transcript": "ENST00000916616.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 743,
"aa_ref": "G",
"aa_start": 359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4195,
"cdna_start": 1449,
"cds_end": null,
"cds_length": 2232,
"cds_start": 1076,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000916618.1",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "c.1076G>A",
"hgvs_p": "p.Gly359Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586677.1",
"strand": false,
"transcript": "ENST00000916618.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 738,
"aa_ref": "G",
"aa_start": 359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4123,
"cdna_start": 1388,
"cds_end": null,
"cds_length": 2217,
"cds_start": 1076,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000916590.1",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "c.1076G>A",
"hgvs_p": "p.Gly359Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586649.1",
"strand": false,
"transcript": "ENST00000916590.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 738,
"aa_ref": "G",
"aa_start": 359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3930,
"cdna_start": 1195,
"cds_end": null,
"cds_length": 2217,
"cds_start": 1076,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000916606.1",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "c.1076G>A",
"hgvs_p": "p.Gly359Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586665.1",
"strand": false,
"transcript": "ENST00000916606.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 712,
"aa_ref": "G",
"aa_start": 359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3835,
"cdna_start": 1178,
"cds_end": null,
"cds_length": 2139,
"cds_start": 1076,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001042403.3",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "c.1076G>A",
"hgvs_p": "p.Gly359Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001035862.1",
"strand": false,
"transcript": "NM_001042403.3",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 712,
"aa_ref": "G",
"aa_start": 359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4059,
"cdna_start": 1402,
"cds_end": null,
"cds_length": 2139,
"cds_start": 1076,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001278393.2",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "c.1076G>A",
"hgvs_p": "p.Gly359Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001265322.1",
"strand": false,
"transcript": "NM_001278393.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 712,
"aa_ref": "G",
"aa_start": 359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3889,
"cdna_start": 1232,
"cds_end": null,
"cds_length": 2139,
"cds_start": 1076,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001347936.2",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "c.1076G>A",
"hgvs_p": "p.Gly359Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001334865.1",
"strand": false,
"transcript": "NM_001347936.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 712,
"aa_ref": "G",
"aa_start": 359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4080,
"cdna_start": 1423,
"cds_end": null,
"cds_length": 2139,
"cds_start": 1076,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001347937.2",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "c.1076G>A",
"hgvs_p": "p.Gly359Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001334866.1",
"strand": false,
"transcript": "NM_001347937.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 712,
"aa_ref": "G",
"aa_start": 359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5466,
"cdna_start": 3339,
"cds_end": null,
"cds_length": 2139,
"cds_start": 1076,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000876803.1",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "c.1076G>A",
"hgvs_p": "p.Gly359Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546862.1",
"strand": false,
"transcript": "ENST00000876803.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 712,
"aa_ref": "G",
"aa_start": 359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4049,
"cdna_start": 1392,
"cds_end": null,
"cds_length": 2139,
"cds_start": 1076,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000916587.1",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "c.1076G>A",
"hgvs_p": "p.Gly359Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586646.1",
"strand": false,
"transcript": "ENST00000916587.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 712,
"aa_ref": "G",
"aa_start": 359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4136,
"cdna_start": 1479,
"cds_end": null,
"cds_length": 2139,
"cds_start": 1076,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000916588.1",
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"hgvs_c": "c.1076G>A",
"hgvs_p": "p.Gly359Glu",
"intron_rank": null,
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"strand": false,
"transcript": "XR_944757.2",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs2077079604",
"effect": "missense_variant",
"frequency_reference_population": 6.840516e-7,
"gene_hgnc_id": 20064,
"gene_symbol": "USP44",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.84052e-7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 5.645,
"pos": 95533181,
"ref": "C",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.438,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_032147.5"
}
]
}