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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: 17-9656521-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=9656521&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 9656521,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_153210.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP43",
"gene_hgnc_id": 20072,
"hgvs_c": "c.623C>T",
"hgvs_p": "p.Pro208Leu",
"transcript": "NM_153210.5",
"protein_id": "NP_694942.3",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 1123,
"cds_start": 623,
"cds_end": null,
"cds_length": 3372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000285199.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153210.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP43",
"gene_hgnc_id": 20072,
"hgvs_c": "c.623C>T",
"hgvs_p": "p.Pro208Leu",
"transcript": "ENST00000285199.12",
"protein_id": "ENSP00000285199.6",
"transcript_support_level": 1,
"aa_start": 208,
"aa_end": null,
"aa_length": 1123,
"cds_start": 623,
"cds_end": null,
"cds_length": 3372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_153210.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000285199.12"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP43",
"gene_hgnc_id": 20072,
"hgvs_c": "c.623C>T",
"hgvs_p": "p.Pro208Leu",
"transcript": "ENST00000570475.5",
"protein_id": "ENSP00000458963.1",
"transcript_support_level": 1,
"aa_start": 208,
"aa_end": null,
"aa_length": 1118,
"cds_start": 623,
"cds_end": null,
"cds_length": 3357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000570475.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP43",
"gene_hgnc_id": 20072,
"hgvs_c": "c.85C>T",
"hgvs_p": "p.Arg29Trp",
"transcript": "ENST00000574408.5",
"protein_id": "ENSP00000459328.3",
"transcript_support_level": 1,
"aa_start": 29,
"aa_end": null,
"aa_length": 909,
"cds_start": 85,
"cds_end": null,
"cds_length": 2730,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000574408.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP43",
"gene_hgnc_id": 20072,
"hgvs_c": "c.623C>T",
"hgvs_p": "p.Pro208Leu",
"transcript": "ENST00000936734.1",
"protein_id": "ENSP00000606793.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 1126,
"cds_start": 623,
"cds_end": null,
"cds_length": 3381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936734.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP43",
"gene_hgnc_id": 20072,
"hgvs_c": "c.623C>T",
"hgvs_p": "p.Pro208Leu",
"transcript": "NM_001267576.2",
"protein_id": "NP_001254505.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 1118,
"cds_start": 623,
"cds_end": null,
"cds_length": 3357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001267576.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP43",
"gene_hgnc_id": 20072,
"hgvs_c": "c.623C>T",
"hgvs_p": "p.Pro208Leu",
"transcript": "ENST00000902328.1",
"protein_id": "ENSP00000572387.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 1092,
"cds_start": 623,
"cds_end": null,
"cds_length": 3279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902328.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP43",
"gene_hgnc_id": 20072,
"hgvs_c": "c.623C>T",
"hgvs_p": "p.Pro208Leu",
"transcript": "ENST00000902329.1",
"protein_id": "ENSP00000572388.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 1090,
"cds_start": 623,
"cds_end": null,
"cds_length": 3273,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902329.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP43",
"gene_hgnc_id": 20072,
"hgvs_c": "c.623C>T",
"hgvs_p": "p.Pro208Leu",
"transcript": "ENST00000936735.1",
"protein_id": "ENSP00000606794.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 1087,
"cds_start": 623,
"cds_end": null,
"cds_length": 3264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936735.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP43",
"gene_hgnc_id": 20072,
"hgvs_c": "c.623C>T",
"hgvs_p": "p.Pro208Leu",
"transcript": "ENST00000936737.1",
"protein_id": "ENSP00000606796.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 1070,
"cds_start": 623,
"cds_end": null,
"cds_length": 3213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936737.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP43",
"gene_hgnc_id": 20072,
"hgvs_c": "c.623C>T",
"hgvs_p": "p.Pro208Leu",
"transcript": "ENST00000936738.1",
"protein_id": "ENSP00000606797.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 1012,
"cds_start": 623,
"cds_end": null,
"cds_length": 3039,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936738.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP43",
"gene_hgnc_id": 20072,
"hgvs_c": "c.623C>T",
"hgvs_p": "p.Pro208Leu",
"transcript": "ENST00000936736.1",
"protein_id": "ENSP00000606795.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 1007,
"cds_start": 623,
"cds_end": null,
"cds_length": 3024,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936736.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP43",
"gene_hgnc_id": 20072,
"hgvs_c": "c.623C>T",
"hgvs_p": "p.Pro208Leu",
"transcript": "XM_011523639.3",
"protein_id": "XP_011521941.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 1092,
"cds_start": 623,
"cds_end": null,
"cds_length": 3279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523639.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP43",
"gene_hgnc_id": 20072,
"hgvs_c": "c.118C>T",
"hgvs_p": "p.Arg40Trp",
"transcript": "XM_017024159.3",
"protein_id": "XP_016879648.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 920,
"cds_start": 118,
"cds_end": null,
"cds_length": 2763,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017024159.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP43",
"gene_hgnc_id": 20072,
"hgvs_c": "c.118C>T",
"hgvs_p": "p.Arg40Trp",
"transcript": "XM_047435319.1",
"protein_id": "XP_047291275.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 915,
"cds_start": 118,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435319.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP43",
"gene_hgnc_id": 20072,
"hgvs_c": "c.623C>T",
"hgvs_p": "p.Pro208Leu",
"transcript": "XM_047435320.1",
"protein_id": "XP_047291276.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 703,
"cds_start": 623,
"cds_end": null,
"cds_length": 2112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435320.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP43",
"gene_hgnc_id": 20072,
"hgvs_c": "n.764C>T",
"hgvs_p": null,
"transcript": "ENST00000570827.6",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000570827.6"
}
],
"gene_symbol": "USP43",
"gene_hgnc_id": 20072,
"dbsnp": "rs764215661",
"frequency_reference_population": 0.00000869074,
"hom_count_reference_population": 0,
"allele_count_reference_population": 14,
"gnomad_exomes_af": 0.00000891153,
"gnomad_genomes_af": 0.0000065735,
"gnomad_exomes_ac": 13,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.12775009870529175,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.076,
"revel_prediction": "Benign",
"alphamissense_score": 0.061,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.78,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.66,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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_153210.5",
"gene_symbol": "USP43",
"hgnc_id": 20072,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.623C>T",
"hgvs_p": "p.Pro208Leu"
}
],
"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
}