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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: 14-95091226-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=95091226&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 95091226,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000343455.8",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DICER1",
"gene_hgnc_id": 17098,
"hgvs_c": "c.5504A>G",
"hgvs_p": "p.Tyr1835Cys",
"transcript": "NM_177438.3",
"protein_id": "NP_803187.1",
"transcript_support_level": null,
"aa_start": 1835,
"aa_end": null,
"aa_length": 1922,
"cds_start": 5504,
"cds_end": null,
"cds_length": 5769,
"cdna_start": 5849,
"cdna_end": null,
"cdna_length": 10384,
"mane_select": "ENST00000343455.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DICER1",
"gene_hgnc_id": 17098,
"hgvs_c": "c.5504A>G",
"hgvs_p": "p.Tyr1835Cys",
"transcript": "ENST00000343455.8",
"protein_id": "ENSP00000343745.3",
"transcript_support_level": 1,
"aa_start": 1835,
"aa_end": null,
"aa_length": 1922,
"cds_start": 5504,
"cds_end": null,
"cds_length": 5769,
"cdna_start": 5849,
"cdna_end": null,
"cdna_length": 10384,
"mane_select": "NM_177438.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DICER1",
"gene_hgnc_id": 17098,
"hgvs_c": "c.5504A>G",
"hgvs_p": "p.Tyr1835Cys",
"transcript": "ENST00000393063.6",
"protein_id": "ENSP00000376783.1",
"transcript_support_level": 1,
"aa_start": 1835,
"aa_end": null,
"aa_length": 1922,
"cds_start": 5504,
"cds_end": null,
"cds_length": 5769,
"cdna_start": 5907,
"cdna_end": null,
"cdna_length": 7423,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DICER1",
"gene_hgnc_id": 17098,
"hgvs_c": "c.5504A>G",
"hgvs_p": "p.Tyr1835Cys",
"transcript": "ENST00000527414.5",
"protein_id": "ENSP00000435681.1",
"transcript_support_level": 1,
"aa_start": 1835,
"aa_end": null,
"aa_length": 1922,
"cds_start": 5504,
"cds_end": null,
"cds_length": 5769,
"cdna_start": 5737,
"cdna_end": null,
"cdna_length": 6179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DICER1",
"gene_hgnc_id": 17098,
"hgvs_c": "c.5504A>G",
"hgvs_p": "p.Tyr1835Cys",
"transcript": "ENST00000529720.2",
"protein_id": "ENSP00000433926.2",
"transcript_support_level": 1,
"aa_start": 1835,
"aa_end": null,
"aa_length": 1922,
"cds_start": 5504,
"cds_end": null,
"cds_length": 5769,
"cdna_start": 5839,
"cdna_end": null,
"cdna_length": 10374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DICER1",
"gene_hgnc_id": 17098,
"hgvs_c": "c.5504A>G",
"hgvs_p": "p.Tyr1835Cys",
"transcript": "ENST00000531162.7",
"protein_id": "ENSP00000433060.3",
"transcript_support_level": 1,
"aa_start": 1835,
"aa_end": null,
"aa_length": 1922,
"cds_start": 5504,
"cds_end": null,
"cds_length": 5769,
"cdna_start": 5933,
"cdna_end": null,
"cdna_length": 10453,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "DICER1",
"gene_hgnc_id": 17098,
"hgvs_c": "c.5365-117A>G",
"hgvs_p": null,
"transcript": "ENST00000541352.5",
"protein_id": "ENSP00000444719.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1829,
"cds_start": -4,
"cds_end": null,
"cds_length": 5490,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5621,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DICER1",
"gene_hgnc_id": 17098,
"hgvs_c": "c.5504A>G",
"hgvs_p": "p.Tyr1835Cys",
"transcript": "NM_001271282.3",
"protein_id": "NP_001258211.1",
"transcript_support_level": null,
"aa_start": 1835,
"aa_end": null,
"aa_length": 1922,
"cds_start": 5504,
"cds_end": null,
"cds_length": 5769,
"cdna_start": 5728,
"cdna_end": null,
"cdna_length": 10263,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DICER1",
"gene_hgnc_id": 17098,
"hgvs_c": "c.5504A>G",
"hgvs_p": "p.Tyr1835Cys",
"transcript": "NM_001291628.2",
"protein_id": "NP_001278557.1",
"transcript_support_level": null,
"aa_start": 1835,
"aa_end": null,
"aa_length": 1922,
"cds_start": 5504,
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"cds_length": 5769,
"cdna_start": 5625,
"cdna_end": null,
"cdna_length": 10160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DICER1",
"gene_hgnc_id": 17098,
"hgvs_c": "c.5504A>G",
"hgvs_p": "p.Tyr1835Cys",
"transcript": "NM_001395677.1",
"protein_id": "NP_001382606.1",
"transcript_support_level": null,
"aa_start": 1835,
"aa_end": null,
"aa_length": 1922,
"cds_start": 5504,
"cds_end": null,
"cds_length": 5769,
"cdna_start": 5899,
"cdna_end": null,
"cdna_length": 10434,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DICER1",
"gene_hgnc_id": 17098,
"hgvs_c": "c.5504A>G",
"hgvs_p": "p.Tyr1835Cys",
"transcript": "NM_001395678.1",
"protein_id": "NP_001382607.1",
"transcript_support_level": null,
"aa_start": 1835,
"aa_end": null,
"aa_length": 1922,
"cds_start": 5504,
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"cdna_start": 5688,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
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"gene_symbol": "DICER1",
"gene_hgnc_id": 17098,
"hgvs_c": "c.5504A>G",
"hgvs_p": "p.Tyr1835Cys",
"transcript": "NM_001395679.1",
"protein_id": "NP_001382608.1",
"transcript_support_level": null,
"aa_start": 1835,
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"aa_length": 1922,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 27,
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"exon_count": 29,
"intron_rank": null,
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"gene_symbol": "DICER1",
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"hgvs_c": "c.5504A>G",
"hgvs_p": "p.Tyr1835Cys",
"transcript": "NM_001395680.1",
"protein_id": "NP_001382609.1",
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"cdna_start": 5855,
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},
{
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],
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"exon_count": 30,
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"gene_symbol": "DICER1",
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"hgvs_c": "c.5504A>G",
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"transcript": "NM_001395682.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DICER1",
"gene_hgnc_id": 17098,
"hgvs_c": "c.5504A>G",
"hgvs_p": "p.Tyr1835Cys",
"transcript": "NM_001395683.1",
"protein_id": "NP_001382612.1",
"transcript_support_level": null,
"aa_start": 1835,
"aa_end": null,
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"mane_select": null,
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},
{
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"strand": false,
"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "DICER1",
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"hgvs_c": "c.5504A>G",
"hgvs_p": "p.Tyr1835Cys",
"transcript": "NM_001395684.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 27,
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"exon_count": 29,
"intron_rank": null,
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"gene_symbol": "DICER1",
"gene_hgnc_id": 17098,
"hgvs_c": "c.5504A>G",
"hgvs_p": "p.Tyr1835Cys",
"transcript": "NM_030621.4",
"protein_id": "NP_085124.2",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
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"gene_symbol": "DICER1",
"gene_hgnc_id": 17098,
"hgvs_c": "c.5504A>G",
"hgvs_p": "p.Tyr1835Cys",
"transcript": "ENST00000526495.6",
"protein_id": "ENSP00000437256.1",
"transcript_support_level": 5,
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},
{
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],
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"gene_symbol": "DICER1",
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"transcript": "ENST00000674628.2",
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},
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],
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"intron_rank": null,
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"gene_symbol": "DICER1",
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"transcript": "ENST00000696736.1",
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},
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],
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"gene_symbol": "DICER1",
"gene_hgnc_id": 17098,
"hgvs_c": "c.5222A>G",
"hgvs_p": "p.Tyr1741Cys",
"transcript": "NM_001395686.1",
"protein_id": "NP_001382615.1",
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"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
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"gene_symbol": "DICER1",
"gene_hgnc_id": 17098,
"hgvs_c": "c.5099A>G",
"hgvs_p": "p.Tyr1700Cys",
"transcript": "NM_001395687.1",
"protein_id": "NP_001382616.1",
"transcript_support_level": null,
"aa_start": 1700,
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},
{
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"protein_coding": true,
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"consequences": [
"missense_variant"
],
"exon_rank": 26,
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],
"gene_symbol": "DICER1",
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"dbsnp": "rs747510783",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 79,
"gnomad_exomes_af": 0.0000471997,
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"computational_score_selected": 0.8208869099617004,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.736,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.3241,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.17,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.502,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3,BS1_Supporting,BS2",
"acmg_by_gene": [
{
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"benign_score": 5,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BS1_Supporting",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000343455.8",
"gene_symbol": "DICER1",
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"effects": [
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],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.5504A>G",
"hgvs_p": "p.Tyr1835Cys"
}
],
"clinvar_disease": "DICER1-related tumor predisposition,Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome,Hereditary cancer-predisposing syndrome,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:7 LB:1",
"phenotype_combined": "DICER1-related tumor predisposition|not provided|Hereditary cancer-predisposing syndrome|Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome|not specified",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}