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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: 3-179943530-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=179943530&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 179943530,
"ref": "G",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_001349386.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PEX5L",
"gene_hgnc_id": 30024,
"hgvs_c": "c.93+28064C>G",
"hgvs_p": null,
"transcript": "NM_016559.3",
"protein_id": "NP_057643.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 626,
"cds_start": null,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9089,
"mane_select": "ENST00000467460.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016559.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PEX5L",
"gene_hgnc_id": 30024,
"hgvs_c": "c.93+28064C>G",
"hgvs_p": null,
"transcript": "ENST00000467460.6",
"protein_id": "ENSP00000419975.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 626,
"cds_start": null,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9089,
"mane_select": "NM_016559.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000467460.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PEX5L",
"gene_hgnc_id": 30024,
"hgvs_c": "c.22-42795C>G",
"hgvs_p": null,
"transcript": "ENST00000263962.12",
"protein_id": "ENSP00000263962.8",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 624,
"cds_start": null,
"cds_end": null,
"cds_length": 1875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2818,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263962.12"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PEX5L",
"gene_hgnc_id": 30024,
"hgvs_c": "c.93+28064C>G",
"hgvs_p": null,
"transcript": "ENST00000485199.5",
"protein_id": "ENSP00000418440.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 591,
"cds_start": null,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2992,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000485199.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PEX5L",
"gene_hgnc_id": 30024,
"hgvs_c": "c.258+28064C>G",
"hgvs_p": null,
"transcript": "NM_001349386.2",
"protein_id": "NP_001336315.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 681,
"cds_start": null,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9104,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349386.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PEX5L",
"gene_hgnc_id": 30024,
"hgvs_c": "c.165+28064C>G",
"hgvs_p": null,
"transcript": "NM_001349387.2",
"protein_id": "NP_001336316.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 650,
"cds_start": null,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9100,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349387.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PEX5L",
"gene_hgnc_id": 30024,
"hgvs_c": "c.165+28064C>G",
"hgvs_p": null,
"transcript": "NM_001349388.2",
"protein_id": "NP_001336317.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 650,
"cds_start": null,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9797,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349388.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PEX5L",
"gene_hgnc_id": 30024,
"hgvs_c": "c.93+28064C>G",
"hgvs_p": null,
"transcript": "NM_001349389.2",
"protein_id": "NP_001336318.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 648,
"cds_start": null,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9155,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349389.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PEX5L",
"gene_hgnc_id": 30024,
"hgvs_c": "c.258+28064C>G",
"hgvs_p": null,
"transcript": "NM_001349390.2",
"protein_id": "NP_001336319.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 646,
"cds_start": null,
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"cds_length": 1941,
"cdna_start": null,
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"cdna_length": 8999,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349390.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PEX5L",
"gene_hgnc_id": 30024,
"hgvs_c": "c.22-42795C>G",
"hgvs_p": null,
"transcript": "NM_001256750.2",
"protein_id": "NP_001243679.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_001256750.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 15,
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"gene_symbol": "PEX5L",
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"hgvs_c": "c.258+28064C>G",
"hgvs_p": null,
"transcript": "NM_001349391.2",
"protein_id": "NP_001336320.1",
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"cds_start": null,
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"mane_select": null,
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},
{
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"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "PEX5L",
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"hgvs_c": "c.165+28064C>G",
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},
{
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"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "PEX5L",
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"hgvs_c": "c.165+28064C>G",
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},
{
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],
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"gene_symbol": "PEX5L",
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},
{
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"protein_coding": true,
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],
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"exon_count": 14,
"intron_rank": 1,
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"gene_symbol": "PEX5L",
"gene_hgnc_id": 30024,
"hgvs_c": "c.22-45284C>G",
"hgvs_p": null,
"transcript": "ENST00000465751.5",
"protein_id": "ENSP00000419348.1",
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},
{
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],
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"gene_symbol": "PEX5L",
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},
{
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"strand": false,
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],
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"gene_symbol": "PEX5L",
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"hgvs_c": "c.165+28064C>G",
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"transcript": "NM_001349394.2",
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"feature": "NM_001349394.2"
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 2,
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"gene_symbol": "PEX5L",
"gene_hgnc_id": 30024,
"hgvs_c": "c.-37+28064C>G",
"hgvs_p": null,
"transcript": "NM_001256754.2",
"protein_id": "NP_001243683.1",
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},
{
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],
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"gene_symbol": "PEX5L",
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},
{
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"intron_variant"
],
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"gene_symbol": "PEX5L",
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},
{
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],
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"gene_symbol": "PEX5L",
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"hgvs_c": "c.22-55746C>G",
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"transcript": "NM_001256753.2",
"protein_id": "NP_001243682.1",
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"biotype": "protein_coding",
"feature": "NM_001256753.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PEX5L",
"gene_hgnc_id": 30024,
"hgvs_c": "c.22-55746C>G",
"hgvs_p": null,
"transcript": "ENST00000472994.5",
"protein_id": "ENSP00000418054.1",
"transcript_support_level": 2,
"aa_start": null,
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"cds_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
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},
{
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"protein_coding": true,
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"consequences": [
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],
"exon_rank": null,
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{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 3,
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"gene_symbol": "PEX5L",
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"transcript": "ENST00000487198.5",
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"transcript_support_level": 4,
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"biotype": "pseudogene",
"feature": "ENST00000487198.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 2,
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"gene_symbol": "PEX5L",
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"hgvs_c": "n.282+28064C>G",
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"transcript": "NR_146167.2",
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"aa_end": null,
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"cds_start": null,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 8831,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_146167.2"
}
],
"gene_symbol": "PEX5L",
"gene_hgnc_id": 30024,
"dbsnp": "rs7630877",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.38999998569488525,
"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": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.164,
"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_001349386.2",
"gene_symbol": "PEX5L",
"hgnc_id": 30024,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.258+28064C>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}