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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: 11-5604373-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=5604373&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 5604373,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000380097.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TRIM6",
"gene_hgnc_id": 16277,
"hgvs_c": "c.508-161A>C",
"hgvs_p": null,
"transcript": "NM_001003818.3",
"protein_id": "NP_001003818.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 516,
"cds_start": -4,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3422,
"mane_select": "ENST00000380097.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TRIM6",
"gene_hgnc_id": 16277,
"hgvs_c": "c.508-161A>C",
"hgvs_p": null,
"transcript": "ENST00000380097.8",
"protein_id": "ENSP00000369440.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 516,
"cds_start": -4,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3422,
"mane_select": "NM_001003818.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TRIM6-TRIM34",
"gene_hgnc_id": 33440,
"hgvs_c": "c.508-161A>C",
"hgvs_p": null,
"transcript": "ENST00000354852.5",
"protein_id": "ENSP00000346916.5",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 842,
"cds_start": -4,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3391,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TRIM6",
"gene_hgnc_id": 16277,
"hgvs_c": "c.424-161A>C",
"hgvs_p": null,
"transcript": "ENST00000278302.9",
"protein_id": "ENSP00000278302.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 488,
"cds_start": -4,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3217,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TRIM6",
"gene_hgnc_id": 16277,
"hgvs_c": "c.346-161A>C",
"hgvs_p": null,
"transcript": "ENST00000380107.5",
"protein_id": "ENSP00000369450.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 462,
"cds_start": -4,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TRIM6",
"gene_hgnc_id": 16277,
"hgvs_c": "c.-102-161A>C",
"hgvs_p": null,
"transcript": "ENST00000445329.5",
"protein_id": "ENSP00000399215.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 313,
"cds_start": -4,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2951,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000239920",
"gene_hgnc_id": null,
"hgvs_c": "n.*422-9023T>G",
"hgvs_p": null,
"transcript": "ENST00000380259.7",
"protein_id": "ENSP00000369609.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TRIM6-TRIM34",
"gene_hgnc_id": 33440,
"hgvs_c": "c.508-161A>C",
"hgvs_p": null,
"transcript": "NM_001003819.4",
"protein_id": "NP_001003819.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 842,
"cds_start": -4,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TRIM6",
"gene_hgnc_id": 16277,
"hgvs_c": "c.424-161A>C",
"hgvs_p": null,
"transcript": "NM_058166.5",
"protein_id": "NP_477514.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 488,
"cds_start": -4,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3215,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TRIM6",
"gene_hgnc_id": 16277,
"hgvs_c": "c.346-161A>C",
"hgvs_p": null,
"transcript": "ENST00000621176.1",
"protein_id": "ENSP00000484009.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 462,
"cds_start": -4,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TRIM6",
"gene_hgnc_id": 16277,
"hgvs_c": "c.-102-161A>C",
"hgvs_p": null,
"transcript": "NM_001198644.2",
"protein_id": "NP_001185573.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 313,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2932,
"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
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"gene_symbol": "TRIM6",
"gene_hgnc_id": 16277,
"hgvs_c": "c.-6-964A>C",
"hgvs_p": null,
"transcript": "NM_001198645.2",
"protein_id": "NP_001185574.1",
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"cds_start": -4,
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},
{
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"canonical": false,
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 1,
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"gene_symbol": "TRIM6",
"gene_hgnc_id": 16277,
"hgvs_c": "c.-102-161A>C",
"hgvs_p": null,
"transcript": "ENST00000506134.5",
"protein_id": "ENSP00000421079.1",
"transcript_support_level": 2,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 2,
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"gene_symbol": "TRIM6",
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"hgvs_c": "c.-270-161A>C",
"hgvs_p": null,
"transcript": "ENST00000507320.5",
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},
{
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"strand": true,
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],
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"gene_symbol": "TRIM6",
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"hgvs_c": "c.-6-964A>C",
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"transcript": "ENST00000515022.5",
"protein_id": "ENSP00000421802.1",
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},
{
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"protein_coding": true,
"strand": true,
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],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 1,
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"gene_symbol": "TRIM6",
"gene_hgnc_id": 16277,
"hgvs_c": "c.-102-161A>C",
"hgvs_p": null,
"transcript": "ENST00000424369.5",
"protein_id": "ENSP00000414108.1",
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},
{
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],
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"intron_rank": 1,
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"gene_symbol": "ENSG00000239920",
"gene_hgnc_id": null,
"hgvs_c": "n.70-9023T>G",
"hgvs_p": null,
"transcript": "ENST00000394793.3",
"protein_id": null,
"transcript_support_level": 3,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 1,
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"gene_symbol": "TRIM6",
"gene_hgnc_id": 16277,
"hgvs_c": "n.262-3999A>C",
"hgvs_p": null,
"transcript": "ENST00000511284.5",
"protein_id": null,
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"aa_start": null,
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},
{
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"canonical": false,
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"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ENSG00000239920",
"gene_hgnc_id": null,
"hgvs_c": "n.331-9023T>G",
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"protein_id": null,
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},
{
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"strand": false,
"consequences": [
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],
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},
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"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "TRIM5",
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"hgvs_c": "n.1094-9023T>G",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TRIM5",
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"hgvs_c": "n.1320-9023T>G",
"hgvs_p": null,
"transcript": "XR_007062519.1",
"protein_id": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TRIM5",
"gene_hgnc_id": 16276,
"hgvs_c": "n.1044-9023T>G",
"hgvs_p": null,
"transcript": "XR_007062522.1",
"protein_id": null,
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"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "TRIM6",
"gene_hgnc_id": 16277,
"dbsnp": "rs7108470",
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"gnomad_genomes_ac": 2,
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"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9800000190734863,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.98,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.23,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
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"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000380097.8",
"gene_symbol": "TRIM6",
"hgnc_id": 16277,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.508-161A>C",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 4,
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"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000354852.5",
"gene_symbol": "TRIM6-TRIM34",
"hgnc_id": 33440,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.508-161A>C",
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},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000380259.7",
"gene_symbol": "ENSG00000239920",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*422-9023T>G",
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},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "XR_001748014.3",
"gene_symbol": "TRIM5",
"hgnc_id": 16276,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.1343-9023T>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}