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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: 8-106686738-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=106686738&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 106686738,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000517566.7",
"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": 17,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "OXR1",
"gene_hgnc_id": 15822,
"hgvs_c": "c.525+2379A>C",
"hgvs_p": null,
"transcript": "NM_001198533.2",
"protein_id": "NP_001185462.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 873,
"cds_start": -4,
"cds_end": null,
"cds_length": 2622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4691,
"mane_select": "ENST00000517566.7",
"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": 17,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "OXR1",
"gene_hgnc_id": 15822,
"hgvs_c": "c.525+2379A>C",
"hgvs_p": null,
"transcript": "ENST00000517566.7",
"protein_id": "ENSP00000429205.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 873,
"cds_start": -4,
"cds_end": null,
"cds_length": 2622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4691,
"mane_select": "NM_001198533.2",
"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": 4,
"intron_rank_end": null,
"gene_symbol": "OXR1",
"gene_hgnc_id": 15822,
"hgvs_c": "c.504+2379A>C",
"hgvs_p": null,
"transcript": "ENST00000312046.10",
"protein_id": "ENSP00000311026.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 839,
"cds_start": -4,
"cds_end": null,
"cds_length": 2520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4406,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "OXR1",
"gene_hgnc_id": 15822,
"hgvs_c": "n.*281+2379A>C",
"hgvs_p": null,
"transcript": "ENST00000438229.6",
"protein_id": "ENSP00000414992.2",
"transcript_support_level": 1,
"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": 1436,
"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": 16,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "OXR1",
"gene_hgnc_id": 15822,
"hgvs_c": "c.528+2379A>C",
"hgvs_p": null,
"transcript": "NM_001198532.1",
"protein_id": "NP_001185461.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 874,
"cds_start": -4,
"cds_end": null,
"cds_length": 2625,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4477,
"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": 16,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "OXR1",
"gene_hgnc_id": 15822,
"hgvs_c": "c.528+2379A>C",
"hgvs_p": null,
"transcript": "ENST00000442977.6",
"protein_id": "ENSP00000405424.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 874,
"cds_start": -4,
"cds_end": null,
"cds_length": 2625,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2956,
"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": 16,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "OXR1",
"gene_hgnc_id": 15822,
"hgvs_c": "c.525+2379A>C",
"hgvs_p": null,
"transcript": "NM_018002.3",
"protein_id": "NP_060472.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 846,
"cds_start": -4,
"cds_end": null,
"cds_length": 2541,
"cdna_start": null,
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"cdna_length": 4622,
"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": 16,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "OXR1",
"gene_hgnc_id": 15822,
"hgvs_c": "c.525+2379A>C",
"hgvs_p": null,
"transcript": "ENST00000531443.6",
"protein_id": "ENSP00000431966.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 846,
"cds_start": -4,
"cds_end": null,
"cds_length": 2541,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4498,
"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": 4,
"intron_rank_end": null,
"gene_symbol": "OXR1",
"gene_hgnc_id": 15822,
"hgvs_c": "c.504+2379A>C",
"hgvs_p": null,
"transcript": "NM_181354.4",
"protein_id": "NP_851999.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 839,
"cds_start": -4,
"cds_end": null,
"cds_length": 2520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4452,
"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": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "OXR1",
"gene_hgnc_id": 15822,
"hgvs_c": "c.324+2379A>C",
"hgvs_p": null,
"transcript": "ENST00000497705.5",
"protein_id": "ENSP00000431014.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 503,
"cds_start": -4,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
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"cdna_length": 2007,
"mane_select": null,
"mane_plus": null,
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "OXR1",
"gene_hgnc_id": 15822,
"hgvs_c": "n.199+28553A>C",
"hgvs_p": null,
"transcript": "ENST00000435082.1",
"protein_id": "ENSP00000387886.1",
"transcript_support_level": 2,
"aa_start": null,
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"cds_start": -4,
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},
{
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"strand": true,
"consequences": [
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],
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"exon_count": 5,
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"gene_symbol": "OXR1",
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"hgvs_c": "n.275+2379A>C",
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"transcript": "ENST00000517455.1",
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},
{
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],
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"gene_symbol": "OXR1",
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"hgvs_c": "c.504+2379A>C",
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"transcript": "XM_017013589.3",
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},
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"strand": true,
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],
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"intron_rank": 5,
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"gene_symbol": "OXR1",
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"hgvs_c": "c.528+2379A>C",
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"transcript": "XM_006716595.3",
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],
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},
{
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],
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"intron_rank": 4,
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"gene_symbol": "OXR1",
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"hgvs_c": "c.318+2379A>C",
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],
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"gene_symbol": "OXR1",
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"transcript": "XM_017013592.2",
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},
{
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],
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"gene_symbol": "OXR1",
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"hgvs_c": "c.261+2379A>C",
"hgvs_p": null,
"transcript": "XM_017013593.3",
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},
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],
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"gene_symbol": "OXR1",
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],
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},
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"consequences": [
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],
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"intron_rank": 1,
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"gene_symbol": "OXR1",
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"hgvs_c": "c.-8+2379A>C",
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"transcript": "XM_047421921.1",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "OXR1",
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"hgvs_c": "c.-8+2379A>C",
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"transcript": "XM_047421922.1",
"protein_id": "XP_047277878.1",
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{
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{
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}
],
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"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
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"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8999999761581421,
"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": -0.9,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.112,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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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": "ENST00000517566.7",
"gene_symbol": "OXR1",
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"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
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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
}