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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: 20-32762858-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=32762858&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 32762858,
"ref": "C",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000328111.6",
"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": 23,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DNMT3B",
"gene_hgnc_id": 2979,
"hgvs_c": "c.-7+159C>A",
"hgvs_p": null,
"transcript": "NM_006892.4",
"protein_id": "NP_008823.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 853,
"cds_start": -4,
"cds_end": null,
"cds_length": 2562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4336,
"mane_select": "ENST00000328111.6",
"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": 23,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DNMT3B",
"gene_hgnc_id": 2979,
"hgvs_c": "c.-7+159C>A",
"hgvs_p": null,
"transcript": "ENST00000328111.6",
"protein_id": "ENSP00000328547.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 853,
"cds_start": -4,
"cds_end": null,
"cds_length": 2562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4336,
"mane_select": "NM_006892.4",
"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": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DNMT3B",
"gene_hgnc_id": 2979,
"hgvs_c": "c.-7+159C>A",
"hgvs_p": null,
"transcript": "ENST00000348286.6",
"protein_id": "ENSP00000337764.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 770,
"cds_start": -4,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNMT3B",
"gene_hgnc_id": 2979,
"hgvs_c": "n.97C>A",
"hgvs_p": null,
"transcript": "ENST00000696237.1",
"protein_id": null,
"transcript_support_level": null,
"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": 766,
"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": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DNMT3B",
"gene_hgnc_id": 2979,
"hgvs_c": "c.-7+159C>A",
"hgvs_p": null,
"transcript": "NM_175848.2",
"protein_id": "NP_787044.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 833,
"cds_start": -4,
"cds_end": null,
"cds_length": 2502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4276,
"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": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DNMT3B",
"gene_hgnc_id": 2979,
"hgvs_c": "c.-7+159C>A",
"hgvs_p": null,
"transcript": "ENST00000353855.6",
"protein_id": "ENSP00000313397.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 833,
"cds_start": -4,
"cds_end": null,
"cds_length": 2502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4237,
"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": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DNMT3B",
"gene_hgnc_id": 2979,
"hgvs_c": "c.-7+159C>A",
"hgvs_p": null,
"transcript": "NM_001424351.1",
"protein_id": "NP_001411280.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 812,
"cds_start": -4,
"cds_end": null,
"cds_length": 2439,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4217,
"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": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DNMT3B",
"gene_hgnc_id": 2979,
"hgvs_c": "c.-7+159C>A",
"hgvs_p": null,
"transcript": "NM_001424352.1",
"protein_id": "NP_001411281.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 811,
"cds_start": -4,
"cds_end": null,
"cds_length": 2436,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4210,
"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": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DNMT3B",
"gene_hgnc_id": 2979,
"hgvs_c": "c.-7+159C>A",
"hgvs_p": null,
"transcript": "NM_001424353.1",
"protein_id": "NP_001411282.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 792,
"cds_start": -4,
"cds_end": null,
"cds_length": 2379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4157,
"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": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DNMT3B",
"gene_hgnc_id": 2979,
"hgvs_c": "c.-7+159C>A",
"hgvs_p": null,
"transcript": "NM_001424354.1",
"protein_id": "NP_001411283.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 791,
"cds_start": -4,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4150,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DNMT3B",
"gene_hgnc_id": 2979,
"hgvs_c": "c.-7+159C>A",
"hgvs_p": null,
"transcript": "NM_001424355.1",
"protein_id": "NP_001411284.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": 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": 21,
"intron_rank": 1,
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"gene_symbol": "DNMT3B",
"gene_hgnc_id": 2979,
"hgvs_c": "c.-7+159C>A",
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"transcript": "ENST00000696232.1",
"protein_id": "ENSP00000512498.1",
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 21,
"intron_rank": 1,
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"gene_symbol": "DNMT3B",
"gene_hgnc_id": 2979,
"hgvs_c": "c.-7+159C>A",
"hgvs_p": null,
"transcript": "NM_001424356.1",
"protein_id": "NP_001411285.1",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "DNMT3B",
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"hgvs_c": "c.-7+159C>A",
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"transcript": "NM_175849.2",
"protein_id": "NP_787045.1",
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},
{
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],
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"gene_symbol": "DNMT3B",
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"transcript": "NM_001424357.1",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 1,
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"gene_symbol": "DNMT3B",
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"hgvs_c": "c.-7+159C>A",
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"transcript": "NM_001424358.1",
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},
{
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],
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"gene_symbol": "DNMT3B",
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"hgvs_c": "c.-7+159C>A",
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"transcript": "NM_001207055.2",
"protein_id": "NP_001193984.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
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"exon_count": 19,
"intron_rank": 1,
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"gene_symbol": "DNMT3B",
"gene_hgnc_id": 2979,
"hgvs_c": "c.-7+159C>A",
"hgvs_p": null,
"transcript": "ENST00000443239.7",
"protein_id": "ENSP00000403169.2",
"transcript_support_level": 2,
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},
{
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "DNMT3B",
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"hgvs_c": "c.-7+159C>A",
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"transcript": "NM_001207056.2",
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},
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],
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"gene_symbol": "DNMT3B",
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"hgvs_c": "c.-7+159C>A",
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},
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"strand": true,
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],
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"intron_rank": 1,
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"gene_symbol": "DNMT3B",
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DNMT3B",
"gene_hgnc_id": 2979,
"hgvs_c": "n.-7+159C>A",
"hgvs_p": null,
"transcript": "ENST00000696233.1",
"protein_id": "ENSP00000512499.1",
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"aa_start": null,
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"cds_start": -4,
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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": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DNMT3B",
"gene_hgnc_id": 2979,
"hgvs_c": "n.104+159C>A",
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"transcript": "ENST00000696234.1",
"protein_id": null,
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},
{
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{
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],
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"hom_count_reference_population": 0,
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"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0000131984,
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"gnomad_genomes_ac": 2,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8199999928474426,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.82,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.017,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"spliceai_max_prediction": "Benign",
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"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,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000328111.6",
"gene_symbol": "DNMT3B",
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"effects": [
"intron_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.-7+159C>A",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}