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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: 13-114242133-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=114242133&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CDC16",
"hgnc_id": 1720,
"hgvs_c": "c.394A>C",
"hgvs_p": "p.Ile132Leu",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_003903.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 5,
"alphamissense_prediction": null,
"alphamissense_score": 0.1751,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.05,
"chr": "13",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.6380021572113037,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 620,
"aa_ref": "I",
"aa_start": 132,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2331,
"cdna_start": 582,
"cds_end": null,
"cds_length": 1863,
"cds_start": 394,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001078645.3",
"gene_hgnc_id": 1720,
"gene_symbol": "CDC16",
"hgvs_c": "c.394A>C",
"hgvs_p": "p.Ile132Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000356221.8",
"protein_coding": true,
"protein_id": "NP_001072113.1",
"strand": true,
"transcript": "NM_001078645.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 620,
"aa_ref": "I",
"aa_start": 132,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2331,
"cdna_start": 582,
"cds_end": null,
"cds_length": 1863,
"cds_start": 394,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000356221.8",
"gene_hgnc_id": 1720,
"gene_symbol": "CDC16",
"hgvs_c": "c.394A>C",
"hgvs_p": "p.Ile132Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001078645.3",
"protein_coding": true,
"protein_id": "ENSP00000348554.3",
"strand": true,
"transcript": "ENST00000356221.8",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 619,
"aa_ref": "I",
"aa_start": 131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2034,
"cdna_start": 415,
"cds_end": null,
"cds_length": 1860,
"cds_start": 391,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000252457.9",
"gene_hgnc_id": 1720,
"gene_symbol": "CDC16",
"hgvs_c": "c.391A>C",
"hgvs_p": "p.Ile131Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000252457.5",
"strand": true,
"transcript": "ENST00000252457.9",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 526,
"aa_ref": "I",
"aa_start": 38,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2034,
"cdna_start": 415,
"cds_end": null,
"cds_length": 1581,
"cds_start": 112,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000375308.5",
"gene_hgnc_id": 1720,
"gene_symbol": "CDC16",
"hgvs_c": "c.112A>C",
"hgvs_p": "p.Ile38Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000364457.1",
"strand": true,
"transcript": "ENST00000375308.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 526,
"aa_ref": "I",
"aa_start": 38,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2156,
"cdna_start": 537,
"cds_end": null,
"cds_length": 1581,
"cds_start": 112,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000375310.5",
"gene_hgnc_id": 1720,
"gene_symbol": "CDC16",
"hgvs_c": "c.112A>C",
"hgvs_p": "p.Ile38Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000364459.1",
"strand": true,
"transcript": "ENST00000375310.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 475,
"aa_ref": "I",
"aa_start": 38,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1991,
"cdna_start": 395,
"cds_end": null,
"cds_length": 1428,
"cds_start": 112,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000252458.6",
"gene_hgnc_id": 1720,
"gene_symbol": "CDC16",
"hgvs_c": "c.112A>C",
"hgvs_p": "p.Ile38Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000252458.6",
"strand": true,
"transcript": "ENST00000252458.6",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 620,
"aa_ref": "I",
"aa_start": 132,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2201,
"cdna_start": 582,
"cds_end": null,
"cds_length": 1863,
"cds_start": 394,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_003903.5",
"gene_hgnc_id": 1720,
"gene_symbol": "CDC16",
"hgvs_c": "c.394A>C",
"hgvs_p": "p.Ile132Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_003894.3",
"strand": true,
"transcript": "NM_003903.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 620,
"aa_ref": "I",
"aa_start": 132,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2211,
"cdna_start": 592,
"cds_end": null,
"cds_length": 1863,
"cds_start": 394,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000360383.7",
"gene_hgnc_id": 1720,
"gene_symbol": "CDC16",
"hgvs_c": "c.394A>C",
"hgvs_p": "p.Ile132Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000353549.3",
"strand": true,
"transcript": "ENST00000360383.7",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 619,
"aa_ref": "I",
"aa_start": 131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2198,
"cdna_start": 579,
"cds_end": null,
"cds_length": 1860,
"cds_start": 391,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001318517.3",
"gene_hgnc_id": 1720,
"gene_symbol": "CDC16",
"hgvs_c": "c.391A>C",
"hgvs_p": "p.Ile131Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305446.1",
"strand": true,
"transcript": "NM_001318517.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 619,
"aa_ref": "I",
"aa_start": 131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2328,
"cdna_start": 579,
"cds_end": null,
"cds_length": 1860,
"cds_start": 391,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001330101.2",
"gene_hgnc_id": 1720,
"gene_symbol": "CDC16",
"hgvs_c": "c.391A>C",
"hgvs_p": "p.Ile131Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317030.1",
"strand": true,
"transcript": "NM_001330101.2",
"transcript_support_level": null
},
{
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"aa_length": 619,
"aa_ref": "I",
"aa_start": 131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2366,
"cdna_start": 620,
"cds_end": null,
"cds_length": 1860,
"cds_start": 391,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000889274.1",
"gene_hgnc_id": 1720,
"gene_symbol": "CDC16",
"hgvs_c": "c.391A>C",
"hgvs_p": "p.Ile131Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559333.1",
"strand": true,
"transcript": "ENST00000889274.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 618,
"aa_ref": "I",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2208,
"cdna_start": 513,
"cds_end": null,
"cds_length": 1857,
"cds_start": 394,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000889277.1",
"gene_hgnc_id": 1720,
"gene_symbol": "CDC16",
"hgvs_c": "c.394A>C",
"hgvs_p": "p.Ile132Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559336.1",
"strand": true,
"transcript": "ENST00000889277.1",
"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,
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"cds_end": null,
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"consequences": [
"missense_variant"
],
"exon_count": 18,
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"feature": "ENST00000960230.1",
"gene_hgnc_id": 1720,
"gene_symbol": "CDC16",
"hgvs_c": "c.394A>C",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000630289.1",
"strand": true,
"transcript": "ENST00000960230.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_ref": "I",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2146,
"cdna_start": 511,
"cds_end": null,
"cds_length": 1797,
"cds_start": 394,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000889278.1",
"gene_hgnc_id": 1720,
"gene_symbol": "CDC16",
"hgvs_c": "c.394A>C",
"hgvs_p": "p.Ile132Leu",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000559337.1",
"strand": true,
"transcript": "ENST00000889278.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_ref": "I",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 582,
"cds_end": null,
"cds_length": 1737,
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"consequences": [
"missense_variant"
],
"exon_count": 17,
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"exon_rank_end": null,
"feature": "ENST00000889276.1",
"gene_hgnc_id": 1720,
"gene_symbol": "CDC16",
"hgvs_c": "c.394A>C",
"hgvs_p": "p.Ile132Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559335.1",
"strand": true,
"transcript": "ENST00000889276.1",
"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": 2092,
"cdna_start": 517,
"cds_end": null,
"cds_length": 1734,
"cds_start": 391,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000960228.1",
"gene_hgnc_id": 1720,
"gene_symbol": "CDC16",
"hgvs_c": "c.391A>C",
"hgvs_p": "p.Ile131Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630287.1",
"strand": true,
"transcript": "ENST00000960228.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 576,
"aa_ref": "I",
"aa_start": 132,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2170,
"cdna_start": 601,
"cds_end": null,
"cds_length": 1731,
"cds_start": 394,
"consequences": [
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],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000889275.1",
"gene_hgnc_id": 1720,
"gene_symbol": "CDC16",
"hgvs_c": "c.394A>C",
"hgvs_p": "p.Ile132Leu",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000559334.1",
"strand": true,
"transcript": "ENST00000889275.1",
"transcript_support_level": null
},
{
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"aa_ref": "I",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 579,
"cds_end": null,
"cds_length": 1707,
"cds_start": 391,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001318518.3",
"gene_hgnc_id": 1720,
"gene_symbol": "CDC16",
"hgvs_c": "c.391A>C",
"hgvs_p": "p.Ile131Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305447.1",
"strand": true,
"transcript": "NM_001318518.3",
"transcript_support_level": null
},
{
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"aa_ref": "I",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2276,
"cdna_start": 527,
"cds_end": null,
"cds_length": 1581,
"cds_start": 112,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001330104.2",
"gene_hgnc_id": 1720,
"gene_symbol": "CDC16",
"hgvs_c": "c.112A>C",
"hgvs_p": "p.Ile38Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317033.1",
"strand": true,
"transcript": "NM_001330104.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_ref": "I",
"aa_start": 38,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2146,
"cdna_start": 527,
"cds_end": null,
"cds_length": 1581,
"cds_start": 112,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001330105.2",
"gene_hgnc_id": 1720,
"gene_symbol": "CDC16",
"hgvs_c": "c.112A>C",
"hgvs_p": "p.Ile38Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317034.1",
"strand": true,
"transcript": "NM_001330105.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 475,
"aa_ref": "I",
"aa_start": 38,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2058,
"cdna_start": 592,
"cds_end": null,
"cds_length": 1428,
"cds_start": 112,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000628084.2",
"gene_hgnc_id": 1720,
"gene_symbol": "CDC16",
"hgvs_c": "c.112A>C",
"hgvs_p": "p.Ile38Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000486027.1",
"strand": true,
"transcript": "ENST00000628084.2",
"transcript_support_level": 5
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