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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: 15-57550243-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=57550243&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"3_prime_UTR_variant"
],
"gene_symbol": "CGNL1",
"hgnc_id": 25931,
"hgvs_c": "c.*2753G>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_032866.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 30466,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -1.03,
"chr": "15",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -1.0299999713897705,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1302,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7214,
"cdna_start": null,
"cds_end": null,
"cds_length": 3909,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_032866.5",
"gene_hgnc_id": 25931,
"gene_symbol": "CGNL1",
"hgvs_c": "c.*2753G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000281282.6",
"protein_coding": true,
"protein_id": "NP_116255.2",
"strand": true,
"transcript": "NM_032866.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1302,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7214,
"cdna_start": null,
"cds_end": null,
"cds_length": 3909,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000281282.6",
"gene_hgnc_id": 25931,
"gene_symbol": "CGNL1",
"hgvs_c": "c.*2753G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_032866.5",
"protein_coding": true,
"protein_id": "ENSP00000281282.5",
"strand": true,
"transcript": "ENST00000281282.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1303,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7229,
"cdna_start": null,
"cds_end": null,
"cds_length": 3912,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000860577.1",
"gene_hgnc_id": 25931,
"gene_symbol": "CGNL1",
"hgvs_c": "c.*2753G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530636.1",
"strand": true,
"transcript": "ENST00000860577.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1303,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7439,
"cdna_start": null,
"cds_end": null,
"cds_length": 3912,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000955756.1",
"gene_hgnc_id": 25931,
"gene_symbol": "CGNL1",
"hgvs_c": "c.*2753G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625815.1",
"strand": true,
"transcript": "ENST00000955756.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1302,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7329,
"cdna_start": null,
"cds_end": null,
"cds_length": 3909,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001252335.2",
"gene_hgnc_id": 25931,
"gene_symbol": "CGNL1",
"hgvs_c": "c.*2753G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001239264.1",
"strand": true,
"transcript": "NM_001252335.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1302,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7301,
"cdna_start": null,
"cds_end": null,
"cds_length": 3909,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000860576.1",
"gene_hgnc_id": 25931,
"gene_symbol": "CGNL1",
"hgvs_c": "c.*2753G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530635.1",
"strand": true,
"transcript": "ENST00000860576.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1302,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7333,
"cdna_start": null,
"cds_end": null,
"cds_length": 3909,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000860578.1",
"gene_hgnc_id": 25931,
"gene_symbol": "CGNL1",
"hgvs_c": "c.*2753G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530637.1",
"strand": true,
"transcript": "ENST00000860578.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1302,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7233,
"cdna_start": null,
"cds_end": null,
"cds_length": 3909,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000860583.1",
"gene_hgnc_id": 25931,
"gene_symbol": "CGNL1",
"hgvs_c": "c.*2753G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530642.1",
"strand": true,
"transcript": "ENST00000860583.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1302,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7397,
"cdna_start": null,
"cds_end": null,
"cds_length": 3909,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000955754.1",
"gene_hgnc_id": 25931,
"gene_symbol": "CGNL1",
"hgvs_c": "c.*2753G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625813.1",
"strand": true,
"transcript": "ENST00000955754.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 1302,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7261,
"cdna_start": null,
"cds_end": null,
"cds_length": 3909,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000955757.1",
"gene_hgnc_id": 25931,
"gene_symbol": "CGNL1",
"hgvs_c": "c.*2753G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625816.1",
"strand": true,
"transcript": "ENST00000955757.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7424,
"cdna_start": null,
"cds_end": null,
"cds_length": 3900,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000860579.1",
"gene_hgnc_id": 25931,
"gene_symbol": "CGNL1",
"hgvs_c": "c.*2753G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530638.1",
"strand": true,
"transcript": "ENST00000860579.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7258,
"cdna_start": null,
"cds_end": null,
"cds_length": 3900,
"cds_start": null,
"consequences": [
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],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000926796.1",
"gene_hgnc_id": 25931,
"gene_symbol": "CGNL1",
"hgvs_c": "c.*2753G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000596855.1",
"strand": true,
"transcript": "ENST00000926796.1",
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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": 20,
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"exon_rank_end": null,
"feature": "ENST00000955755.1",
"gene_hgnc_id": 25931,
"gene_symbol": "CGNL1",
"hgvs_c": "c.*2753G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000625814.1",
"strand": true,
"transcript": "ENST00000955755.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7044,
"cdna_start": null,
"cds_end": null,
"cds_length": 3696,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000926797.1",
"gene_hgnc_id": 25931,
"gene_symbol": "CGNL1",
"hgvs_c": "c.*2753G>A",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000596856.1",
"strand": true,
"transcript": "ENST00000926797.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 19,
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"exon_rank_end": null,
"feature": "XM_005254726.5",
"gene_hgnc_id": 25931,
"gene_symbol": "CGNL1",
"hgvs_c": "c.*2753G>A",
"hgvs_p": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005254783.1",
"strand": true,
"transcript": "XM_005254726.5",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15595,
"cdna_start": null,
"cds_end": null,
"cds_length": 3912,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_005254727.6",
"gene_hgnc_id": 25931,
"gene_symbol": "CGNL1",
"hgvs_c": "c.*2753G>A",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_005254784.1",
"strand": true,
"transcript": "XM_005254727.6",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7271,
"cdna_start": null,
"cds_end": null,
"cds_length": 3912,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_011522120.2",
"gene_hgnc_id": 25931,
"gene_symbol": "CGNL1",
"hgvs_c": "c.*2753G>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_011520422.1",
"strand": true,
"transcript": "XM_011522120.2",
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},
{
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"cdna_length": 7815,
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"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 19,
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"exon_rank_end": null,
"feature": "XM_011522121.3",
"gene_hgnc_id": 25931,
"gene_symbol": "CGNL1",
"hgvs_c": "c.*2753G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_011520423.1",
"strand": true,
"transcript": "XM_011522121.3",
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},
{
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"cds_end": null,
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"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 20,
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"exon_rank_end": null,
"feature": "XM_047433178.1",
"gene_hgnc_id": 25931,
"gene_symbol": "CGNL1",
"hgvs_c": "c.*2753G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047289134.1",
"strand": true,
"transcript": "XM_047433178.1",
"transcript_support_level": null
},
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
"cds_length": 3912,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_047433179.1",
"gene_hgnc_id": 25931,
"gene_symbol": "CGNL1",
"hgvs_c": "c.*2753G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289135.1",
"strand": true,
"transcript": "XM_047433179.1",
"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": 3912,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XM_047433180.1",
"gene_hgnc_id": 25931,
"gene_symbol": "CGNL1",
"hgvs_c": "c.*2753G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289136.1",
"strand": true,
"transcript": "XM_047433180.1",
"transcript_support_level": null
},
{
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