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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: 3-13498834-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=13498834&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 13498834,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000295757.8",
"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": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "HDAC11",
"gene_hgnc_id": 19086,
"hgvs_c": "c.412+279G>A",
"hgvs_p": null,
"transcript": "NM_024827.4",
"protein_id": "NP_079103.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 347,
"cds_start": -4,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2819,
"mane_select": "ENST00000295757.8",
"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": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "HDAC11",
"gene_hgnc_id": 19086,
"hgvs_c": "c.412+279G>A",
"hgvs_p": null,
"transcript": "ENST00000295757.8",
"protein_id": "ENSP00000295757.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 347,
"cds_start": -4,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2819,
"mane_select": "NM_024827.4",
"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": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "HDAC11",
"gene_hgnc_id": 19086,
"hgvs_c": "c.328+279G>A",
"hgvs_p": null,
"transcript": "ENST00000437379.2",
"protein_id": "ENSP00000395188.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 319,
"cds_start": -4,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2766,
"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": 4,
"intron_rank_end": null,
"gene_symbol": "HDAC11",
"gene_hgnc_id": 19086,
"hgvs_c": "c.286-1879G>A",
"hgvs_p": null,
"transcript": "ENST00000433119.5",
"protein_id": "ENSP00000412514.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 236,
"cds_start": -4,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2043,
"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": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "HDAC11",
"gene_hgnc_id": 19086,
"hgvs_c": "c.259+279G>A",
"hgvs_p": null,
"transcript": "NM_001136041.3",
"protein_id": "NP_001129513.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 296,
"cds_start": -4,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2847,
"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": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "HDAC11",
"gene_hgnc_id": 19086,
"hgvs_c": "c.259+279G>A",
"hgvs_p": null,
"transcript": "ENST00000522202.5",
"protein_id": "ENSP00000429794.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 296,
"cds_start": -4,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1559,
"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": 3,
"intron_rank_end": null,
"gene_symbol": "HDAC11",
"gene_hgnc_id": 19086,
"hgvs_c": "c.253-3037G>A",
"hgvs_p": null,
"transcript": "NM_001330636.2",
"protein_id": "NP_001317565.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 268,
"cds_start": -4,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2582,
"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": 3,
"intron_rank_end": null,
"gene_symbol": "HDAC11",
"gene_hgnc_id": 19086,
"hgvs_c": "c.253-3037G>A",
"hgvs_p": null,
"transcript": "ENST00000402271.5",
"protein_id": "ENSP00000384123.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 268,
"cds_start": -4,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1018,
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "HDAC11",
"gene_hgnc_id": 19086,
"hgvs_c": "c.253-4050G>A",
"hgvs_p": null,
"transcript": "ENST00000404040.5",
"protein_id": "ENSP00000385475.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 247,
"cds_start": -4,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 967,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "HDAC11",
"gene_hgnc_id": 19086,
"hgvs_c": "c.286-1879G>A",
"hgvs_p": null,
"transcript": "ENST00000446613.6",
"protein_id": "ENSP00000401487.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 236,
"cds_start": -4,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
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"cdna_length": 2875,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"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": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "HDAC11",
"gene_hgnc_id": 19086,
"hgvs_c": "c.328+279G>A",
"hgvs_p": null,
"transcript": "ENST00000405478.5",
"protein_id": "ENSP00000385252.1",
"transcript_support_level": 5,
"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": 4,
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"gene_symbol": "HDAC11",
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"hgvs_c": "c.152-5260G>A",
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"transcript": "ENST00000402259.5",
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},
{
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"strand": true,
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],
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"gene_symbol": "HDAC11",
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"hgvs_c": "c.310-1879G>A",
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"transcript": "ENST00000434848.5",
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},
{
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],
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"gene_symbol": "HDAC11",
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"hgvs_c": "c.328+279G>A",
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},
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],
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"transcript": "ENST00000404548.5",
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},
{
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],
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"exon_count": 5,
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"gene_symbol": "HDAC11",
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"hgvs_c": "c.169-5260G>A",
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},
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],
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},
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],
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"hgvs_c": "n.427+279G>A",
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},
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],
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},
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],
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],
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},
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"strand": true,
"consequences": [
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],
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"exon_count": 6,
"intron_rank": 2,
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"gene_symbol": "HDAC11",
"gene_hgnc_id": 19086,
"hgvs_c": "n.308+279G>A",
"hgvs_p": null,
"transcript": "ENST00000498532.5",
"protein_id": null,
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"feature": null
}
],
"gene_symbol": "HDAC11",
"gene_hgnc_id": 19086,
"dbsnp": "rs2675231",
"frequency_reference_population": 0.89723396,
"hom_count_reference_population": 61389,
"allele_count_reference_population": 136498,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.897234,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 136498,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 61389,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.949999988079071,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.95,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.159,
"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,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000295757.8",
"gene_symbol": "HDAC11",
"hgnc_id": 19086,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.412+279G>A",
"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
}