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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: 9-86337398-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=86337398&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 86337398,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000375963.8",
"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": 27,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "TUT7",
"gene_hgnc_id": 25817,
"hgvs_c": "c.1455+21T>G",
"hgvs_p": null,
"transcript": "NM_024617.4",
"protein_id": "NP_078893.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1495,
"cds_start": -4,
"cds_end": null,
"cds_length": 4488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5603,
"mane_select": "ENST00000375963.8",
"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": 27,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "TUT7",
"gene_hgnc_id": 25817,
"hgvs_c": "c.1455+21T>G",
"hgvs_p": null,
"transcript": "ENST00000375963.8",
"protein_id": "ENSP00000365130.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1495,
"cds_start": -4,
"cds_end": null,
"cds_length": 4488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5603,
"mane_select": "NM_024617.4",
"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": 20,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TUT7",
"gene_hgnc_id": 25817,
"hgvs_c": "c.1086+5677T>G",
"hgvs_p": null,
"transcript": "ENST00000375960.6",
"protein_id": "ENSP00000365127.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1259,
"cds_start": -4,
"cds_end": null,
"cds_length": 3780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUT7",
"gene_hgnc_id": 25817,
"hgvs_c": "c.*15T>G",
"hgvs_p": null,
"transcript": "ENST00000375948.2",
"protein_id": "ENSP00000365115.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 124,
"cds_start": -4,
"cds_end": null,
"cds_length": 375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 958,
"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": 27,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "TUT7",
"gene_hgnc_id": 25817,
"hgvs_c": "c.1455+21T>G",
"hgvs_p": null,
"transcript": "NM_001185059.2",
"protein_id": "NP_001171988.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1495,
"cds_start": -4,
"cds_end": null,
"cds_length": 4488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5493,
"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": 20,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TUT7",
"gene_hgnc_id": 25817,
"hgvs_c": "c.1086+5677T>G",
"hgvs_p": null,
"transcript": "NM_001185074.2",
"protein_id": "NP_001172003.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1259,
"cds_start": -4,
"cds_end": null,
"cds_length": 3780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4895,
"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": 28,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "TUT7",
"gene_hgnc_id": 25817,
"hgvs_c": "c.-842+21T>G",
"hgvs_p": null,
"transcript": "NM_001330718.2",
"protein_id": "NP_001317647.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 784,
"cds_start": -4,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
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"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": 28,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "TUT7",
"gene_hgnc_id": 25817,
"hgvs_c": "c.-800+21T>G",
"hgvs_p": null,
"transcript": "ENST00000277141.10",
"protein_id": "ENSP00000277141.6",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 784,
"cds_start": -4,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000299358",
"gene_hgnc_id": null,
"hgvs_c": "n.448-4355A>C",
"hgvs_p": null,
"transcript": "ENST00000762831.1",
"protein_id": null,
"transcript_support_level": null,
"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": 515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 28,
"intron_rank": 10,
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"gene_symbol": "TUT7",
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"hgvs_c": "c.1455+21T>G",
"hgvs_p": null,
"transcript": "XM_011519011.3",
"protein_id": "XP_011517313.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1551,
"cds_start": -4,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"gene_symbol": "TUT7",
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"hgvs_c": "c.1455+21T>G",
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"transcript": "XM_011519012.3",
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},
{
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],
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},
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],
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],
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],
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],
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],
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{
"aa_ref": null,
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],
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7900000214576721,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.11999999731779099,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.79,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.888,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.12,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
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"acmg_score": -12,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"criteria": [
"BP4_Strong",
"BS1",
"BS2"
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"verdict": "Benign",
"transcript": "ENST00000375963.8",
"gene_symbol": "TUT7",
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"effects": [
"intron_variant"
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"inheritance_mode": "",
"hgvs_c": "c.1455+21T>G",
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},
{
"score": -12,
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"criteria": [
"BP4_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000762831.1",
"gene_symbol": "ENSG00000299358",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.448-4355A>C",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}