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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: 15-57438339-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=57438339&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4_Strong",
"BP6_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CGNL1",
"hgnc_id": 25931,
"hgvs_c": "c.340A>G",
"hgvs_p": "p.Ile114Val",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_032866.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate",
"acmg_score": -6,
"allele_count_reference_population": 712,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.057,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.61,
"chr": "15",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.011222362518310547,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1302,
"aa_ref": "I",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7214,
"cdna_start": 418,
"cds_end": null,
"cds_length": 3909,
"cds_start": 340,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_032866.5",
"gene_hgnc_id": 25931,
"gene_symbol": "CGNL1",
"hgvs_c": "c.340A>G",
"hgvs_p": "p.Ile114Val",
"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": "V",
"aa_end": null,
"aa_length": 1302,
"aa_ref": "I",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7214,
"cdna_start": 418,
"cds_end": null,
"cds_length": 3909,
"cds_start": 340,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000281282.6",
"gene_hgnc_id": 25931,
"gene_symbol": "CGNL1",
"hgvs_c": "c.340A>G",
"hgvs_p": "p.Ile114Val",
"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": "V",
"aa_end": null,
"aa_length": 1324,
"aa_ref": "I",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4745,
"cdna_start": 458,
"cds_end": null,
"cds_length": 3975,
"cds_start": 340,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000955758.1",
"gene_hgnc_id": 25931,
"gene_symbol": "CGNL1",
"hgvs_c": "c.340A>G",
"hgvs_p": "p.Ile114Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625817.1",
"strand": true,
"transcript": "ENST00000955758.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1303,
"aa_ref": "I",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7229,
"cdna_start": 418,
"cds_end": null,
"cds_length": 3912,
"cds_start": 340,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000860577.1",
"gene_hgnc_id": 25931,
"gene_symbol": "CGNL1",
"hgvs_c": "c.340A>G",
"hgvs_p": "p.Ile114Val",
"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": "V",
"aa_end": null,
"aa_length": 1303,
"aa_ref": "I",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4908,
"cdna_start": 461,
"cds_end": null,
"cds_length": 3912,
"cds_start": 340,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000860580.1",
"gene_hgnc_id": 25931,
"gene_symbol": "CGNL1",
"hgvs_c": "c.340A>G",
"hgvs_p": "p.Ile114Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530639.1",
"strand": true,
"transcript": "ENST00000860580.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1303,
"aa_ref": "I",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4227,
"cdna_start": 533,
"cds_end": null,
"cds_length": 3912,
"cds_start": 340,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000860582.1",
"gene_hgnc_id": 25931,
"gene_symbol": "CGNL1",
"hgvs_c": "c.340A>G",
"hgvs_p": "p.Ile114Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530641.1",
"strand": true,
"transcript": "ENST00000860582.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1303,
"aa_ref": "I",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7439,
"cdna_start": 642,
"cds_end": null,
"cds_length": 3912,
"cds_start": 340,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000955756.1",
"gene_hgnc_id": 25931,
"gene_symbol": "CGNL1",
"hgvs_c": "c.340A>G",
"hgvs_p": "p.Ile114Val",
"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": "V",
"aa_end": null,
"aa_length": 1303,
"aa_ref": "I",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4975,
"cdna_start": 539,
"cds_end": null,
"cds_length": 3912,
"cds_start": 340,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000955759.1",
"gene_hgnc_id": 25931,
"gene_symbol": "CGNL1",
"hgvs_c": "c.340A>G",
"hgvs_p": "p.Ile114Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625818.1",
"strand": true,
"transcript": "ENST00000955759.1",
"transcript_support_level": null
},
{
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"aa_length": 1302,
"aa_ref": "I",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7329,
"cdna_start": 533,
"cds_end": null,
"cds_length": 3909,
"cds_start": 340,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001252335.2",
"gene_hgnc_id": 25931,
"gene_symbol": "CGNL1",
"hgvs_c": "c.340A>G",
"hgvs_p": "p.Ile114Val",
"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
},
{
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"aa_length": 1302,
"aa_ref": "I",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7301,
"cdna_start": 502,
"cds_end": null,
"cds_length": 3909,
"cds_start": 340,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000860576.1",
"gene_hgnc_id": 25931,
"gene_symbol": "CGNL1",
"hgvs_c": "c.340A>G",
"hgvs_p": "p.Ile114Val",
"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",
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},
{
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"aa_ref": "I",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7333,
"cdna_start": 533,
"cds_end": null,
"cds_length": 3909,
"cds_start": 340,
"consequences": [
"missense_variant"
],
"exon_count": 20,
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"feature": "ENST00000860578.1",
"gene_hgnc_id": 25931,
"gene_symbol": "CGNL1",
"hgvs_c": "c.340A>G",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530637.1",
"strand": true,
"transcript": "ENST00000860578.1",
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},
{
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"aa_ref": "I",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 7233,
"cdna_start": 437,
"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000860583.1",
"gene_hgnc_id": 25931,
"gene_symbol": "CGNL1",
"hgvs_c": "c.340A>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000530642.1",
"strand": true,
"transcript": "ENST00000860583.1",
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},
{
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],
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"feature": "ENST00000955754.1",
"gene_hgnc_id": 25931,
"gene_symbol": "CGNL1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000625813.1",
"strand": true,
"transcript": "ENST00000955754.1",
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},
{
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"aa_ref": "I",
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"biotype": "protein_coding",
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"cdna_start": 468,
"cds_end": null,
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"consequences": [
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],
"exon_count": 21,
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"feature": "ENST00000955757.1",
"gene_hgnc_id": 25931,
"gene_symbol": "CGNL1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000625816.1",
"strand": true,
"transcript": "ENST00000955757.1",
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},
{
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"aa_ref": "I",
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"cdna_start": 639,
"cds_end": null,
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"consequences": [
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],
"exon_count": 20,
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"feature": "ENST00000860579.1",
"gene_hgnc_id": 25931,
"gene_symbol": "CGNL1",
"hgvs_c": "c.340A>G",
"hgvs_p": "p.Ile114Val",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530638.1",
"strand": true,
"transcript": "ENST00000860579.1",
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},
{
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"aa_ref": "I",
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"biotype": "protein_coding",
"canonical": false,
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"cdna_length": 4700,
"cdna_start": 465,
"cds_end": null,
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"consequences": [
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],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000860581.1",
"gene_hgnc_id": 25931,
"gene_symbol": "CGNL1",
"hgvs_c": "c.340A>G",
"hgvs_p": "p.Ile114Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530640.1",
"strand": true,
"transcript": "ENST00000860581.1",
"transcript_support_level": null
},
{
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"aa_ref": "I",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 7258,
"cdna_start": 474,
"cds_end": null,
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],
"exon_count": 19,
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"feature": "ENST00000926796.1",
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"strand": true,
"transcript": "ENST00000926796.1",
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},
{
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],
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"feature": "ENST00000955755.1",
"gene_hgnc_id": 25931,
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"hgvs_c": "c.340A>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000625814.1",
"strand": true,
"transcript": "ENST00000955755.1",
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},
{
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"aa_ref": "I",
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"cds_end": null,
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"consequences": [
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],
"exon_count": 18,
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"exon_rank_end": null,
"feature": "ENST00000926797.1",
"gene_hgnc_id": 25931,
"gene_symbol": "CGNL1",
"hgvs_c": "c.340A>G",
"hgvs_p": "p.Ile114Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596856.1",
"strand": true,
"transcript": "ENST00000926797.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 1303,
"aa_ref": "I",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7217,
"cdna_start": 418,
"cds_end": null,
"cds_length": 3912,
"cds_start": 340,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_005254726.5",
"gene_hgnc_id": 25931,
"gene_symbol": "CGNL1",
"hgvs_c": "c.340A>G",
"hgvs_p": "p.Ile114Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005254783.1",
"strand": true,
"transcript": "XM_005254726.5",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1303,
"aa_ref": "I",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15595,
"cdna_start": 8796,
"cds_end": null,
"cds_length": 3912,
"cds_start": 340,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_005254727.6",
"gene_hgnc_id": 25931,
"gene_symbol": "CGNL1",
"hgvs_c": "c.340A>G",
"hgvs_p": "p.Ile114Val",
"intron_rank": null,
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