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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: 22-29225488-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=29225488&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": "EMID1",
"hgnc_id": 18036,
"hgvs_c": "c.403+272C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001410828.1",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "LOC105372985",
"hgnc_id": null,
"hgvs_c": "n.100+243G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "XR_001755481.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 146592,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.85,
"chr": "22",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8500000238418579,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 443,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2128,
"cdna_start": null,
"cds_end": null,
"cds_length": 1332,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_133455.4",
"gene_hgnc_id": 18036,
"gene_symbol": "EMID1",
"hgvs_c": "c.403+272C>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000334018.11",
"protein_coding": true,
"protein_id": "NP_597712.2",
"strand": true,
"transcript": "NM_133455.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 443,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2128,
"cdna_start": null,
"cds_end": null,
"cds_length": 1332,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000334018.11",
"gene_hgnc_id": 18036,
"gene_symbol": "EMID1",
"hgvs_c": "c.403+272C>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_133455.4",
"protein_coding": true,
"protein_id": "ENSP00000335481.6",
"strand": true,
"transcript": "ENST00000334018.11",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 495,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2275,
"cdna_start": null,
"cds_end": null,
"cds_length": 1488,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000935682.1",
"gene_hgnc_id": 18036,
"gene_symbol": "EMID1",
"hgvs_c": "c.403+272C>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605741.1",
"strand": true,
"transcript": "ENST00000935682.1",
"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": 2238,
"cdna_start": null,
"cds_end": null,
"cds_length": 1485,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000961474.1",
"gene_hgnc_id": 18036,
"gene_symbol": "EMID1",
"hgvs_c": "c.403+272C>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631533.1",
"strand": true,
"transcript": "ENST00000961474.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 462,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2125,
"cdna_start": null,
"cds_end": null,
"cds_length": 1389,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000961475.1",
"gene_hgnc_id": 18036,
"gene_symbol": "EMID1",
"hgvs_c": "c.403+272C>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631534.1",
"strand": true,
"transcript": "ENST00000961475.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 460,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2121,
"cdna_start": null,
"cds_end": null,
"cds_length": 1383,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000891450.1",
"gene_hgnc_id": 18036,
"gene_symbol": "EMID1",
"hgvs_c": "c.403+272C>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561509.1",
"strand": true,
"transcript": "ENST00000891450.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 445,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2134,
"cdna_start": null,
"cds_end": null,
"cds_length": 1338,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001410828.1",
"gene_hgnc_id": 18036,
"gene_symbol": "EMID1",
"hgvs_c": "c.403+272C>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397757.1",
"strand": true,
"transcript": "NM_001410828.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 445,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2118,
"cdna_start": null,
"cds_end": null,
"cds_length": 1338,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000404820.7",
"gene_hgnc_id": 18036,
"gene_symbol": "EMID1",
"hgvs_c": "c.403+272C>T",
"hgvs_p": null,
"intron_rank": 4,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384452.3",
"strand": true,
"transcript": "ENST00000404820.7",
"transcript_support_level": 5
},
{
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"aa_length": 441,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2122,
"cdna_start": null,
"cds_end": null,
"cds_length": 1326,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
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"feature": "NM_001267895.2",
"gene_hgnc_id": 18036,
"gene_symbol": "EMID1",
"hgvs_c": "c.397+272C>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001254824.1",
"strand": true,
"transcript": "NM_001267895.2",
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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,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 15,
"exon_rank": null,
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"feature": "ENST00000961472.1",
"gene_hgnc_id": 18036,
"gene_symbol": "EMID1",
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"mane_plus": null,
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"protein_id": "ENSP00000631531.1",
"strand": true,
"transcript": "ENST00000961472.1",
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},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
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"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000961473.1",
"gene_hgnc_id": 18036,
"gene_symbol": "EMID1",
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"mane_plus": null,
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"protein_coding": true,
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},
{
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],
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"feature": "ENST00000891447.1",
"gene_hgnc_id": 18036,
"gene_symbol": "EMID1",
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"mane_plus": null,
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"protein_coding": true,
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"strand": true,
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},
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"feature": "ENST00000891449.1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000561508.1",
"strand": true,
"transcript": "ENST00000891449.1",
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},
{
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],
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"feature": "ENST00000404755.7",
"gene_hgnc_id": 18036,
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},
{
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],
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"feature": "ENST00000891448.1",
"gene_hgnc_id": 18036,
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"hgvs_c": "c.403+272C>T",
"hgvs_p": null,
"intron_rank": 4,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000561507.1",
"strand": true,
"transcript": "ENST00000891448.1",
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},
{
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"consequences": [
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],
"exon_count": 14,
"exon_rank": null,
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"feature": "ENST00000935683.1",
"gene_hgnc_id": 18036,
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"hgvs_c": "c.403+272C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000605742.1",
"strand": true,
"transcript": "ENST00000935683.1",
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},
{
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],
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"feature": "ENST00000935681.1",
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"protein_id": "ENSP00000605740.1",
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},
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],
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"strand": true,
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},
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],
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"strand": true,
"transcript": "ENST00000430127.1",
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},
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"biotype": "protein_coding",
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
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"feature": "XM_011529868.4",
"gene_hgnc_id": 18036,
"gene_symbol": "EMID1",
"hgvs_c": "c.403+272C>T",
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"intron_rank": 4,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_011528170.1",
"strand": true,
"transcript": "XM_011529868.4",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cds_start": null,
"consequences": [
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],
"exon_count": 16,
"exon_rank": null,
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"feature": "XM_011529869.4",
"gene_hgnc_id": 18036,
"gene_symbol": "EMID1",
"hgvs_c": "c.403+272C>T",
"hgvs_p": null,
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"mane_plus": null,
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