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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: 13-42906069-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=42906069&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 42906069,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000313624.12",
"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": 11,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "EPSTI1",
"gene_hgnc_id": 16465,
"hgvs_c": "c.742-5686C>T",
"hgvs_p": null,
"transcript": "NM_033255.5",
"protein_id": "NP_150280.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 307,
"cds_start": -4,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3106,
"mane_select": "ENST00000313624.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "EPSTI1",
"gene_hgnc_id": 16465,
"hgvs_c": "c.742-5686C>T",
"hgvs_p": null,
"transcript": "ENST00000313624.12",
"protein_id": "ENSP00000318643.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 307,
"cds_start": -4,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3106,
"mane_select": "NM_033255.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 13,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "EPSTI1",
"gene_hgnc_id": 16465,
"hgvs_c": "c.775-5686C>T",
"hgvs_p": null,
"transcript": "ENST00000313640.11",
"protein_id": "ENSP00000318982.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 410,
"cds_start": -4,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 13,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "EPSTI1",
"gene_hgnc_id": 16465,
"hgvs_c": "c.775-5686C>T",
"hgvs_p": null,
"transcript": "NM_001002264.4",
"protein_id": "NP_001002264.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 410,
"cds_start": -4,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "EPSTI1",
"gene_hgnc_id": 16465,
"hgvs_c": "c.775-5686C>T",
"hgvs_p": null,
"transcript": "NM_001330543.2",
"protein_id": "NP_001317472.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 318,
"cds_start": -4,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3139,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "EPSTI1",
"gene_hgnc_id": 16465,
"hgvs_c": "c.775-5686C>T",
"hgvs_p": null,
"transcript": "ENST00000398762.7",
"protein_id": "ENSP00000381746.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 318,
"cds_start": -4,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 957,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "EPSTI1",
"gene_hgnc_id": 16465,
"hgvs_c": "c.361-5686C>T",
"hgvs_p": null,
"transcript": "NM_001331228.2",
"protein_id": "NP_001318157.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 180,
"cds_start": -4,
"cds_end": null,
"cds_length": 543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3047,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "EPSTI1",
"gene_hgnc_id": 16465,
"hgvs_c": "n.412-5686C>T",
"hgvs_p": null,
"transcript": "ENST00000535677.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "EPSTI1",
"gene_hgnc_id": 16465,
"hgvs_c": "n.2315-5686C>T",
"hgvs_p": null,
"transcript": "ENST00000540470.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "EPSTI1",
"gene_hgnc_id": 16465,
"hgvs_c": "c.742-5686C>T",
"hgvs_p": null,
"transcript": "XM_005266596.2",
"protein_id": "XP_005266653.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 399,
"cds_start": -4,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "EPSTI1",
"gene_hgnc_id": 16465,
"hgvs_c": "c.775-5686C>T",
"hgvs_p": null,
"transcript": "XM_006719896.5",
"protein_id": "XP_006719959.1",
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"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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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": 9,
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"gene_symbol": "EPSTI1",
"gene_hgnc_id": 16465,
"hgvs_c": "c.394-5686C>T",
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"transcript": "XM_011535312.3",
"protein_id": "XP_011533614.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 12,
"intron_rank": 8,
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"gene_symbol": "EPSTI1",
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"hgvs_c": "c.394-5686C>T",
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"transcript": "XM_011535313.2",
"protein_id": "XP_011533615.1",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 8,
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"gene_symbol": "EPSTI1",
"gene_hgnc_id": 16465,
"hgvs_c": "c.394-5686C>T",
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"transcript": "XM_017020855.3",
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},
{
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"intron_variant"
],
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"gene_symbol": "EPSTI1",
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"hgvs_c": "c.394-5686C>T",
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"transcript": "XM_047430778.1",
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},
{
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"protein_coding": true,
"strand": false,
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],
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"exon_count": 16,
"intron_rank": 12,
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"gene_symbol": "EPSTI1",
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"transcript": "XM_047430779.1",
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},
{
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],
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"intron_rank": 12,
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"gene_symbol": "EPSTI1",
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"hgvs_c": "c.394-5686C>T",
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"transcript": "XM_047430780.1",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
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"intron_rank_end": null,
"gene_symbol": "EPSTI1",
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"hgvs_c": "c.394-5686C>T",
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"transcript": "XM_047430781.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 4,
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"gene_symbol": "EPSTI1",
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"transcript": "XM_011535314.2",
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},
{
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],
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"intron_rank": 9,
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"gene_symbol": "EPSTI1",
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC124903165",
"gene_hgnc_id": null,
"hgvs_c": "n.116+8417G>A",
"hgvs_p": null,
"transcript": "XR_007063772.1",
"protein_id": null,
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"feature": null
}
],
"gene_symbol": "EPSTI1",
"gene_hgnc_id": 16465,
"dbsnp": "rs12870438",
"frequency_reference_population": 0.27136734,
"hom_count_reference_population": 7054,
"allele_count_reference_population": 41288,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.271367,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 41288,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 7054,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8700000047683716,
"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": -0.87,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.504,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000313624.12",
"gene_symbol": "EPSTI1",
"hgnc_id": 16465,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.742-5686C>T",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "XR_007063772.1",
"gene_symbol": "LOC124903165",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.116+8417G>A",
"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
}