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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: 1-52531568-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=52531568&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "TUT4",
"hgnc_id": 28981,
"hgvs_c": "c.-93-5195A>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001009881.3",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "LOC105378723",
"hgnc_id": null,
"hgvs_c": "n.118+69T>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "XR_001738048.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 46661,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.78,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.7799999713897705,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1645,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5853,
"cdna_start": null,
"cds_end": null,
"cds_length": 4938,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001009881.3",
"gene_hgnc_id": 28981,
"gene_symbol": "TUT4",
"hgvs_c": "c.-93-5195A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000257177.9",
"protein_coding": true,
"protein_id": "NP_001009881.1",
"strand": false,
"transcript": "NM_001009881.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1645,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5853,
"cdna_start": null,
"cds_end": null,
"cds_length": 4938,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000257177.9",
"gene_hgnc_id": 28981,
"gene_symbol": "TUT4",
"hgvs_c": "c.-93-5195A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001009881.3",
"protein_coding": true,
"protein_id": "ENSP00000257177.4",
"strand": false,
"transcript": "ENST00000257177.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 905,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2910,
"cdna_start": null,
"cds_end": null,
"cds_length": 2719,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000484723.6",
"gene_hgnc_id": 28981,
"gene_symbol": "TUT4",
"hgvs_c": "c.-5-15514A>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000435256.1",
"strand": false,
"transcript": "ENST00000484723.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 309,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2152,
"cdna_start": null,
"cds_end": null,
"cds_length": 930,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000355809.4",
"gene_hgnc_id": 28981,
"gene_symbol": "TUT4",
"hgvs_c": "c.-93-5195A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000348063.4",
"strand": false,
"transcript": "ENST00000355809.4",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 86,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 883,
"cdna_start": null,
"cds_end": null,
"cds_length": 261,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000470626.1",
"gene_hgnc_id": 28981,
"gene_symbol": "TUT4",
"hgvs_c": "c.-211-1683A>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000434367.1",
"strand": false,
"transcript": "ENST00000470626.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2047,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000473856.5",
"gene_hgnc_id": 28981,
"gene_symbol": "TUT4",
"hgvs_c": "n.-93-5195A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000432328.1",
"strand": false,
"transcript": "ENST00000473856.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1644,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5848,
"cdna_start": null,
"cds_end": null,
"cds_length": 4935,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_015269.2",
"gene_hgnc_id": 28981,
"gene_symbol": "TUT4",
"hgvs_c": "c.-93-5195A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_056084.1",
"strand": false,
"transcript": "NM_015269.2",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 1644,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5858,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 30,
"exon_rank": null,
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"feature": "ENST00000371544.7",
"gene_hgnc_id": 28981,
"gene_symbol": "TUT4",
"hgvs_c": "c.-93-5195A>G",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000360599.3",
"strand": false,
"transcript": "ENST00000371544.7",
"transcript_support_level": 5
},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 31,
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"feature": "ENST00000938126.1",
"gene_hgnc_id": 28981,
"gene_symbol": "TUT4",
"hgvs_c": "c.-199-1695A>G",
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"protein_coding": true,
"protein_id": "ENSP00000608185.1",
"strand": false,
"transcript": "ENST00000938126.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000938128.1",
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},
{
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],
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"feature": "ENST00000938125.1",
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},
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"feature": "ENST00000938129.1",
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"protein_coding": true,
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"strand": false,
"transcript": "ENST00000938127.1",
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},
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"feature": "ENST00000528642.5",
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},
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],
"exon_count": 3,
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"feature": "ENST00000524582.1",
"gene_hgnc_id": 28981,
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"hgvs_c": "c.-93-5195A>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000435568.1",
"strand": false,
"transcript": "ENST00000524582.1",
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},
{
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"consequences": [
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],
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"feature": "XM_005270676.3",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_005270733.1",
"strand": false,
"transcript": "XM_005270676.3",
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},
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},
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"feature": "XM_005270678.3",
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"protein_id": "XP_005270735.1",
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},
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],
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"protein_coding": true,
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"strand": false,
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},
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"consequences": [
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],
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"feature": "XM_047416324.1",
"gene_hgnc_id": 28981,
"gene_symbol": "TUT4",
"hgvs_c": "c.-93-5195A>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047272280.1",
"strand": false,
"transcript": "XM_047416324.1",
"transcript_support_level": null
},
{
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"consequences": [
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],
"exon_count": 31,
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"feature": "XM_047416325.1",
"gene_hgnc_id": 28981,
"gene_symbol": "TUT4",
"hgvs_c": "c.-93-5195A>G",
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