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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: 4-55885574-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=55885574&ref=C&alt=T&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": "EXOC1",
"hgnc_id": 30380,
"hgvs_c": "c.1330+1646C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_018261.4",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"upstream_gene_variant"
],
"gene_symbol": "RNU6-652P",
"hgnc_id": 47615,
"hgvs_c": "n.-21C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "ENST00000365488.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 31855,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.88,
"chr": "4",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8799999952316284,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 894,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3592,
"cdna_start": null,
"cds_end": null,
"cds_length": 2685,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001024924.2",
"gene_hgnc_id": 30380,
"gene_symbol": "EXOC1",
"hgvs_c": "c.1330+1646C>T",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000381295.7",
"protein_coding": true,
"protein_id": "NP_001020095.1",
"strand": true,
"transcript": "NM_001024924.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 894,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3592,
"cdna_start": null,
"cds_end": null,
"cds_length": 2685,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000381295.7",
"gene_hgnc_id": 30380,
"gene_symbol": "EXOC1",
"hgvs_c": "c.1330+1646C>T",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001024924.2",
"protein_coding": true,
"protein_id": "ENSP00000370695.2",
"strand": true,
"transcript": "ENST00000381295.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 912,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3520,
"cdna_start": null,
"cds_end": null,
"cds_length": 2739,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000892247.1",
"gene_hgnc_id": 30380,
"gene_symbol": "EXOC1",
"hgvs_c": "c.1384+1646C>T",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562306.1",
"strand": true,
"transcript": "ENST00000892247.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 912,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3582,
"cdna_start": null,
"cds_end": null,
"cds_length": 2739,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000892251.1",
"gene_hgnc_id": 30380,
"gene_symbol": "EXOC1",
"hgvs_c": "c.1384+1646C>T",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562310.1",
"strand": true,
"transcript": "ENST00000892251.1",
"transcript_support_level": null
},
{
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"aa_length": 912,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3540,
"cdna_start": null,
"cds_end": null,
"cds_length": 2739,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000970263.1",
"gene_hgnc_id": 30380,
"gene_symbol": "EXOC1",
"hgvs_c": "c.1429+703C>T",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640322.1",
"strand": true,
"transcript": "ENST00000970263.1",
"transcript_support_level": null
},
{
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"aa_length": 905,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3539,
"cdna_start": null,
"cds_end": null,
"cds_length": 2718,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000892254.1",
"gene_hgnc_id": 30380,
"gene_symbol": "EXOC1",
"hgvs_c": "c.1408+703C>T",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562313.1",
"strand": true,
"transcript": "ENST00000892254.1",
"transcript_support_level": null
},
{
"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": 3369,
"cdna_start": null,
"cds_end": null,
"cds_length": 2718,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000892255.1",
"gene_hgnc_id": 30380,
"gene_symbol": "EXOC1",
"hgvs_c": "c.1408+703C>T",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562314.1",
"strand": true,
"transcript": "ENST00000892255.1",
"transcript_support_level": null
},
{
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"aa_length": 904,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3555,
"cdna_start": null,
"cds_end": null,
"cds_length": 2715,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
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"feature": "ENST00000970256.1",
"gene_hgnc_id": 30380,
"gene_symbol": "EXOC1",
"hgvs_c": "c.1405+1646C>T",
"hgvs_p": null,
"intron_rank": 12,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640315.1",
"strand": true,
"transcript": "ENST00000970256.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
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"consequences": [
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],
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"feature": "ENST00000970258.1",
"gene_hgnc_id": 30380,
"gene_symbol": "EXOC1",
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"protein_id": "ENSP00000640317.1",
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},
{
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],
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"feature": "ENST00000970255.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000970266.1",
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},
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"feature": "ENST00000892249.1",
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"feature": "ENST00000892250.1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000562309.1",
"strand": true,
"transcript": "ENST00000892250.1",
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},
{
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],
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"feature": "NM_018261.4",
"gene_hgnc_id": 30380,
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"hgvs_c": "c.1330+1646C>T",
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},
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],
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"feature": "ENST00000346134.11",
"gene_hgnc_id": 30380,
"gene_symbol": "EXOC1",
"hgvs_c": "c.1330+1646C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000326514.7",
"strand": true,
"transcript": "ENST00000346134.11",
"transcript_support_level": 2
},
{
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"consequences": [
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],
"exon_count": 20,
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"feature": "ENST00000970264.1",
"gene_hgnc_id": 30380,
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"hgvs_c": "c.1375+703C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000640323.1",
"strand": true,
"transcript": "ENST00000970264.1",
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},
{
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],
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"feature": "ENST00000892257.1",
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"feature": "ENST00000892252.1",
"gene_hgnc_id": 30380,
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},
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],
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"feature": "ENST00000970254.1",
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"strand": true,
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},
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"consequences": [
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],
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"feature": "ENST00000970253.1",
"gene_hgnc_id": 30380,
"gene_symbol": "EXOC1",
"hgvs_c": "c.1351+1646C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000640312.1",
"strand": true,
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"transcript_support_level": null
},
{
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"consequences": [
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],
"exon_count": 19,
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"feature": "ENST00000970257.1",
"gene_hgnc_id": 30380,
"gene_symbol": "EXOC1",
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