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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: 5-74811789-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=74811789&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 74811789,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000687041.1",
"consequences": [
{
"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": 13,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "FAM169A",
"gene_hgnc_id": 29138,
"hgvs_c": "c.670+2051C>T",
"hgvs_p": null,
"transcript": "NM_001376049.1",
"protein_id": "NP_001362978.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 670,
"cds_start": -4,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6125,
"mane_select": "ENST00000687041.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "FAM169A",
"gene_hgnc_id": 29138,
"hgvs_c": "c.670+2051C>T",
"hgvs_p": null,
"transcript": "ENST00000687041.1",
"protein_id": "ENSP00000508577.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 670,
"cds_start": -4,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6125,
"mane_select": "NM_001376049.1",
"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": 13,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "FAM169A",
"gene_hgnc_id": 29138,
"hgvs_c": "c.670+2051C>T",
"hgvs_p": null,
"transcript": "ENST00000389156.9",
"protein_id": "ENSP00000373808.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 670,
"cds_start": -4,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6118,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "FAM169A",
"gene_hgnc_id": 29138,
"hgvs_c": "n.*114+2051C>T",
"hgvs_p": null,
"transcript": "ENST00000510609.5",
"protein_id": "ENSP00000423905.1",
"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": 5908,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "FAM169A",
"gene_hgnc_id": 29138,
"hgvs_c": "n.*114+2051C>T",
"hgvs_p": null,
"transcript": "ENST00000514215.5",
"protein_id": "ENSP00000425319.1",
"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": 5954,
"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": 13,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "FAM169A",
"gene_hgnc_id": 29138,
"hgvs_c": "c.670+2051C>T",
"hgvs_p": null,
"transcript": "NM_001376050.1",
"protein_id": "NP_001362979.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 670,
"cds_start": -4,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6960,
"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": 13,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "FAM169A",
"gene_hgnc_id": 29138,
"hgvs_c": "c.670+2051C>T",
"hgvs_p": null,
"transcript": "NM_001376051.1",
"protein_id": "NP_001362980.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 670,
"cds_start": -4,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
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"cdna_length": 6948,
"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": 13,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "FAM169A",
"gene_hgnc_id": 29138,
"hgvs_c": "c.670+2051C>T",
"hgvs_p": null,
"transcript": "NM_001376052.1",
"protein_id": "NP_001362981.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 670,
"cds_start": -4,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6621,
"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": 13,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "FAM169A",
"gene_hgnc_id": 29138,
"hgvs_c": "c.670+2051C>T",
"hgvs_p": null,
"transcript": "NM_015566.3",
"protein_id": "NP_056381.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 670,
"cds_start": -4,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
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"cdna_length": 6118,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 5,
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"gene_symbol": "FAM169A",
"gene_hgnc_id": 29138,
"hgvs_c": "c.491-6505C>T",
"hgvs_p": null,
"transcript": "ENST00000510496.5",
"protein_id": "ENSP00000424578.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 610,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 5810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "FAM169A",
"gene_hgnc_id": 29138,
"hgvs_c": "c.412+2051C>T",
"hgvs_p": null,
"transcript": "NM_001376053.1",
"protein_id": "NP_001362982.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 584,
"cds_start": -4,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 9,
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"gene_symbol": "FAM169A",
"gene_hgnc_id": 29138,
"hgvs_c": "c.124+2051C>T",
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"transcript": "NM_001376054.1",
"protein_id": "NP_001362983.1",
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"cds_start": -4,
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"gene_symbol": "FAM169A",
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"hgvs_c": "n.724+2051C>T",
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"transcript": "NR_046462.1",
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},
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],
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"exon_count": 13,
"intron_rank": 5,
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"gene_symbol": "FAM169A",
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},
{
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"strand": false,
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"intron_variant"
],
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"intron_rank": 6,
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"gene_symbol": "FAM169A",
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"transcript": "NR_164754.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 6,
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"gene_symbol": "FAM169A",
"gene_hgnc_id": 29138,
"hgvs_c": "c.787+2051C>T",
"hgvs_p": null,
"transcript": "XM_047417083.1",
"protein_id": "XP_047273039.1",
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},
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],
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"gene_symbol": "FAM169A",
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"hgvs_c": "c.670+2051C>T",
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"transcript": "XM_047417084.1",
"protein_id": "XP_047273040.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 6,
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"gene_symbol": "FAM169A",
"gene_hgnc_id": 29138,
"hgvs_c": "c.670+2051C>T",
"hgvs_p": null,
"transcript": "XM_047417085.1",
"protein_id": "XP_047273041.1",
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},
{
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"strand": false,
"consequences": [
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],
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"exon_count": 13,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "FAM169A",
"gene_hgnc_id": 29138,
"hgvs_c": "c.670+2051C>T",
"hgvs_p": null,
"transcript": "XM_047417086.1",
"protein_id": "XP_047273042.1",
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},
{
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"strand": false,
"consequences": [
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],
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"intron_rank": 3,
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"gene_symbol": "FAM169A",
"gene_hgnc_id": 29138,
"hgvs_c": "c.286+2051C>T",
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"transcript": "XM_047417087.1",
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}
],
"gene_symbol": "FAM169A",
"gene_hgnc_id": 29138,
"dbsnp": "rs6453086",
"frequency_reference_population": 0.28652024,
"hom_count_reference_population": 7489,
"allele_count_reference_population": 43574,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.28652,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 43574,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 7489,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9800000190734863,
"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": -0.98,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.403,
"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": "ENST00000687041.1",
"gene_symbol": "FAM169A",
"hgnc_id": 29138,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.670+2051C>T",
"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
}