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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: 4-39502685-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=39502685&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "UGDH",
"hgnc_id": 12525,
"hgvs_c": "c.1374+1190G>A",
"hgvs_p": null,
"inheritance_mode": "AR,AD",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_003359.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.79,
"chr": "4",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.7900000214576721,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 494,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3037,
"cdna_start": null,
"cds_end": null,
"cds_length": 1485,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_003359.4",
"gene_hgnc_id": 12525,
"gene_symbol": "UGDH",
"hgvs_c": "c.1374+1190G>A",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000316423.11",
"protein_coding": true,
"protein_id": "NP_003350.1",
"strand": false,
"transcript": "NM_003359.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 494,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3037,
"cdna_start": null,
"cds_end": null,
"cds_length": 1485,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000316423.11",
"gene_hgnc_id": 12525,
"gene_symbol": "UGDH",
"hgvs_c": "c.1374+1190G>A",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003359.4",
"protein_coding": true,
"protein_id": "ENSP00000319501.6",
"strand": false,
"transcript": "ENST00000316423.11",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 530,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3270,
"cdna_start": null,
"cds_end": null,
"cds_length": 1593,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000907836.1",
"gene_hgnc_id": 12525,
"gene_symbol": "UGDH",
"hgvs_c": "c.1482+1190G>A",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577895.1",
"strand": false,
"transcript": "ENST00000907836.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 524,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3128,
"cdna_start": null,
"cds_end": null,
"cds_length": 1575,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000907837.1",
"gene_hgnc_id": 12525,
"gene_symbol": "UGDH",
"hgvs_c": "c.1464+1190G>A",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577896.1",
"strand": false,
"transcript": "ENST00000907837.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 494,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3021,
"cdna_start": null,
"cds_end": null,
"cds_length": 1485,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000506179.5",
"gene_hgnc_id": 12525,
"gene_symbol": "UGDH",
"hgvs_c": "c.1374+1190G>A",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000421757.1",
"strand": false,
"transcript": "ENST00000506179.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 494,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3033,
"cdna_start": null,
"cds_end": null,
"cds_length": 1485,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000907838.1",
"gene_hgnc_id": 12525,
"gene_symbol": "UGDH",
"hgvs_c": "c.1374+1190G>A",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577897.1",
"strand": false,
"transcript": "ENST00000907838.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 494,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2981,
"cdna_start": null,
"cds_end": null,
"cds_length": 1485,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000907839.1",
"gene_hgnc_id": 12525,
"gene_symbol": "UGDH",
"hgvs_c": "c.1374+1190G>A",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577898.1",
"strand": false,
"transcript": "ENST00000907839.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 494,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2490,
"cdna_start": null,
"cds_end": null,
"cds_length": 1485,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000907843.1",
"gene_hgnc_id": 12525,
"gene_symbol": "UGDH",
"hgvs_c": "c.1374+1190G>A",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577902.1",
"strand": false,
"transcript": "ENST00000907843.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 494,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2460,
"cdna_start": null,
"cds_end": null,
"cds_length": 1485,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000907844.1",
"gene_hgnc_id": 12525,
"gene_symbol": "UGDH",
"hgvs_c": "c.1374+1190G>A",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577903.1",
"strand": false,
"transcript": "ENST00000907844.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 494,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3715,
"cdna_start": null,
"cds_end": null,
"cds_length": 1485,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000907845.1",
"gene_hgnc_id": 12525,
"gene_symbol": "UGDH",
"hgvs_c": "c.1374+1190G>A",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577904.1",
"strand": false,
"transcript": "ENST00000907845.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
"cds_length": 1485,
"cds_start": null,
"consequences": [
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],
"exon_count": 12,
"exon_rank": null,
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"feature": "ENST00000911344.1",
"gene_hgnc_id": 12525,
"gene_symbol": "UGDH",
"hgvs_c": "c.1374+1190G>A",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581403.1",
"strand": false,
"transcript": "ENST00000911344.1",
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},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
"exon_count": 12,
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"feature": "ENST00000907841.1",
"gene_hgnc_id": 12525,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000577900.1",
"strand": false,
"transcript": "ENST00000907841.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000907840.1",
"gene_hgnc_id": 12525,
"gene_symbol": "UGDH",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000577899.1",
"strand": false,
"transcript": "ENST00000907840.1",
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},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 11,
"exon_rank": null,
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"feature": "ENST00000959854.1",
"gene_hgnc_id": 12525,
"gene_symbol": "UGDH",
"hgvs_c": "c.1218+1190G>A",
"hgvs_p": null,
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"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000629913.1",
"strand": false,
"transcript": "ENST00000959854.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
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"cdna_start": null,
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"consequences": [
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],
"exon_count": 11,
"exon_rank": null,
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"feature": "NM_001184700.2",
"gene_hgnc_id": 12525,
"gene_symbol": "UGDH",
"hgvs_c": "c.1173+1190G>A",
"hgvs_p": null,
"intron_rank": 10,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171629.1",
"strand": false,
"transcript": "NM_001184700.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 11,
"exon_rank": null,
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"feature": "ENST00000501493.6",
"gene_hgnc_id": 12525,
"gene_symbol": "UGDH",
"hgvs_c": "c.1173+1190G>A",
"hgvs_p": null,
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"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000422909.1",
"strand": false,
"transcript": "ENST00000501493.6",
"transcript_support_level": 2
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
"cds_length": 1284,
"cds_start": null,
"consequences": [
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],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000911343.1",
"gene_hgnc_id": 12525,
"gene_symbol": "UGDH",
"hgvs_c": "c.1173+1190G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000581402.1",
"strand": false,
"transcript": "ENST00000911343.1",
"transcript_support_level": null
},
{
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"cds_start": null,
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],
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"feature": "ENST00000911345.1",
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"protein_id": "ENSP00000581404.1",
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"transcript": "ENST00000911345.1",
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},
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"cds_start": null,
"consequences": [
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],
"exon_count": 11,
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"feature": "NM_001184701.2",
"gene_hgnc_id": 12525,
"gene_symbol": "UGDH",
"hgvs_c": "c.1083+1190G>A",
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"protein_coding": true,
"protein_id": "NP_001171630.1",
"strand": false,
"transcript": "NM_001184701.2",
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},
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000507089.5",
"gene_hgnc_id": 12525,
"gene_symbol": "UGDH",
"hgvs_c": "c.1083+1190G>A",
"hgvs_p": null,
"intron_rank": 10,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000426560.1",
"strand": false,
"transcript": "ENST00000507089.5",
"transcript_support_level": 2
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2102,
"cdna_start": null,
"cds_end": null,
"cds_length": 1086,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000907842.1",
"gene_hgnc_id": 12525,
"gene_symbol": "UGDH",
"hgvs_c": "c.975+1190G>A",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577901.1",
"strand": false,
"transcript": "ENST00000907842.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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