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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: 11-112056843-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=112056843&ref=T&alt=A&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": "DLAT",
"hgnc_id": 2896,
"hgvs_c": "c.1533-3060T>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001372031.1",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "PIH1D2",
"hgnc_id": 25210,
"hgvs_c": "c.814-4156A>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001439210.1",
"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": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.91,
"chr": "11",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.9100000262260437,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 647,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3878,
"cdna_start": null,
"cds_end": null,
"cds_length": 1944,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001931.5",
"gene_hgnc_id": 2896,
"gene_symbol": "DLAT",
"hgvs_c": "c.1515-3060T>A",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000280346.11",
"protein_coding": true,
"protein_id": "NP_001922.2",
"strand": true,
"transcript": "NM_001931.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 647,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3878,
"cdna_start": null,
"cds_end": null,
"cds_length": 1944,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000280346.11",
"gene_hgnc_id": 2896,
"gene_symbol": "DLAT",
"hgvs_c": "c.1515-3060T>A",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001931.5",
"protein_coding": true,
"protein_id": "ENSP00000280346.7",
"strand": true,
"transcript": "ENST00000280346.11",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 653,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3896,
"cdna_start": null,
"cds_end": null,
"cds_length": 1962,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001372031.1",
"gene_hgnc_id": 2896,
"gene_symbol": "DLAT",
"hgvs_c": "c.1533-3060T>A",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001358960.1",
"strand": true,
"transcript": "NM_001372031.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 653,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3146,
"cdna_start": null,
"cds_end": null,
"cds_length": 1962,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000915657.1",
"gene_hgnc_id": 2896,
"gene_symbol": "DLAT",
"hgvs_c": "c.1533-3060T>A",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585716.1",
"strand": true,
"transcript": "ENST00000915657.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 647,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3465,
"cdna_start": null,
"cds_end": null,
"cds_length": 1944,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000713569.1",
"gene_hgnc_id": 2896,
"gene_symbol": "DLAT",
"hgvs_c": "c.1515-3060T>A",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000518862.1",
"strand": true,
"transcript": "ENST00000713569.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 645,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3872,
"cdna_start": null,
"cds_end": null,
"cds_length": 1938,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001372032.1",
"gene_hgnc_id": 2896,
"gene_symbol": "DLAT",
"hgvs_c": "c.1509-3060T>A",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001358961.1",
"strand": true,
"transcript": "NM_001372032.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 645,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3825,
"cdna_start": null,
"cds_end": null,
"cds_length": 1938,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000681316.1",
"gene_hgnc_id": 2896,
"gene_symbol": "DLAT",
"hgvs_c": "c.1509-3060T>A",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506560.1",
"strand": true,
"transcript": "ENST00000681316.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 643,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2089,
"cdna_start": null,
"cds_end": null,
"cds_length": 1932,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000915658.1",
"gene_hgnc_id": 2896,
"gene_symbol": "DLAT",
"hgvs_c": "c.1503-3060T>A",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585717.1",
"strand": true,
"transcript": "ENST00000915658.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 640,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3857,
"cdna_start": null,
"cds_end": null,
"cds_length": 1923,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001372033.1",
"gene_hgnc_id": 2896,
"gene_symbol": "DLAT",
"hgvs_c": "c.1515-3081T>A",
"hgvs_p": null,
"intron_rank": 11,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001358962.1",
"strand": true,
"transcript": "NM_001372033.1",
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},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3810,
"cdna_start": null,
"cds_end": null,
"cds_length": 1923,
"cds_start": null,
"consequences": [
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],
"exon_count": 14,
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"feature": "ENST00000681328.1",
"gene_hgnc_id": 2896,
"gene_symbol": "DLAT",
"hgvs_c": "c.1515-3081T>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000506355.1",
"strand": true,
"transcript": "ENST00000681328.1",
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},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
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"consequences": [
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],
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"feature": "NM_001372034.1",
"gene_hgnc_id": 2896,
"gene_symbol": "DLAT",
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"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001358963.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000679878.1",
"gene_hgnc_id": 2896,
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"mane_plus": null,
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},
{
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],
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"feature": "ENST00000873897.1",
"gene_hgnc_id": 2896,
"gene_symbol": "DLAT",
"hgvs_c": "c.1422-3060T>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000543956.1",
"strand": true,
"transcript": "ENST00000873897.1",
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},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 13,
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"feature": "NM_001372035.1",
"gene_hgnc_id": 2896,
"gene_symbol": "DLAT",
"hgvs_c": "c.1407-3060T>A",
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"mane_plus": null,
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"protein_coding": true,
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},
{
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"consequences": [
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],
"exon_count": 13,
"exon_rank": null,
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"feature": "ENST00000681339.1",
"gene_hgnc_id": 2896,
"gene_symbol": "DLAT",
"hgvs_c": "c.1407-3060T>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000506167.1",
"strand": true,
"transcript": "ENST00000681339.1",
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},
{
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"cds_end": null,
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"consequences": [
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],
"exon_count": 14,
"exon_rank": null,
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"feature": "NM_001372036.1",
"gene_hgnc_id": 2896,
"gene_symbol": "DLAT",
"hgvs_c": "c.1389-3060T>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001358965.1",
"strand": true,
"transcript": "NM_001372036.1",
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},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 14,
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"feature": "NM_001372037.1",
"gene_hgnc_id": 2896,
"gene_symbol": "DLAT",
"hgvs_c": "c.1347-3060T>A",
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"protein_coding": true,
"protein_id": "NP_001358966.1",
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},
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"consequences": [
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],
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"feature": "ENST00000680411.1",
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"hgvs_c": "c.1260-3060T>A",
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"protein_coding": true,
"protein_id": "ENSP00000505915.1",
"strand": true,
"transcript": "ENST00000680411.1",
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},
{
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"consequences": [
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],
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"feature": "NM_001372038.1",
"gene_hgnc_id": 2896,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001358967.1",
"strand": true,
"transcript": "NM_001372038.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
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"feature": "ENST00000680331.1",
"gene_hgnc_id": 2896,
"gene_symbol": "DLAT",
"hgvs_c": "c.1236-3060T>A",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506707.1",
"strand": true,
"transcript": "ENST00000680331.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 1638,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000915659.1",
"gene_hgnc_id": 2896,
"gene_symbol": "DLAT",
"hgvs_c": "c.1209-3060T>A",
"hgvs_p": null,
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