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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: 6-108673623-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=108673623&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 108673623,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_001455.4",
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FOXO3",
"gene_hgnc_id": 3821,
"hgvs_c": "c.*35-6204G>A",
"hgvs_p": null,
"transcript": "NM_001455.4",
"protein_id": "NP_001446.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 673,
"cds_start": -4,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7296,
"mane_select": "ENST00000406360.2",
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FOXO3",
"gene_hgnc_id": 3821,
"hgvs_c": "c.*35-6204G>A",
"hgvs_p": null,
"transcript": "ENST00000406360.2",
"protein_id": "ENSP00000385824.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 673,
"cds_start": -4,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7296,
"mane_select": "NM_001455.4",
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FOXO3",
"gene_hgnc_id": 3821,
"hgvs_c": "c.*35-6204G>A",
"hgvs_p": null,
"transcript": "ENST00000343882.10",
"protein_id": "ENSP00000339527.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 673,
"cds_start": -4,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7308,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FOXO3",
"gene_hgnc_id": 3821,
"hgvs_c": "c.*35-6204G>A",
"hgvs_p": null,
"transcript": "ENST00000540898.1",
"protein_id": "ENSP00000446316.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 453,
"cds_start": -4,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2553,
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FOXO3",
"gene_hgnc_id": 3821,
"hgvs_c": "c.*35-6204G>A",
"hgvs_p": null,
"transcript": "NM_201559.3",
"protein_id": "NP_963853.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 673,
"cds_start": -4,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7318,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FOXO3",
"gene_hgnc_id": 3821,
"hgvs_c": "c.*35-6204G>A",
"hgvs_p": null,
"transcript": "NM_001415139.1",
"protein_id": "NP_001402068.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 506,
"cds_start": -4,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7362,
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "FOXO3",
"gene_hgnc_id": 3821,
"hgvs_c": "c.*35-6204G>A",
"hgvs_p": null,
"transcript": "NM_001415140.1",
"protein_id": "NP_001402069.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 484,
"cds_start": -4,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7435,
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FOXO3",
"gene_hgnc_id": 3821,
"hgvs_c": "c.*35-6204G>A",
"hgvs_p": null,
"transcript": "NM_001415141.1",
"protein_id": "NP_001402070.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 484,
"cds_start": -4,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6650,
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FOXO3",
"gene_hgnc_id": 3821,
"hgvs_c": "c.*35-6204G>A",
"hgvs_p": null,
"transcript": "NM_001415142.1",
"protein_id": "NP_001402071.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 484,
"cds_start": -4,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7165,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FOXO3",
"gene_hgnc_id": 3821,
"hgvs_c": "c.*35-6204G>A",
"hgvs_p": null,
"transcript": "NM_001415144.1",
"protein_id": "NP_001402073.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 453,
"cds_start": -4,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6424,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FOXO3",
"gene_hgnc_id": 3821,
"hgvs_c": "c.*35-6204G>A",
"hgvs_p": null,
"transcript": "NM_001415145.1",
"protein_id": "NP_001402074.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 453,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 6597,
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "FOXO3",
"gene_hgnc_id": 3821,
"hgvs_c": "c.*35-6204G>A",
"hgvs_p": null,
"transcript": "NM_001415146.1",
"protein_id": "NP_001402075.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 453,
"cds_start": -4,
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"cdna_start": null,
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"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FOXO3",
"gene_hgnc_id": 3821,
"hgvs_c": "c.*35-6204G>A",
"hgvs_p": null,
"transcript": "NM_001415147.1",
"protein_id": "NP_001402076.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 453,
"cds_start": -4,
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"cdna_start": null,
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"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FOXO3",
"gene_hgnc_id": 3821,
"hgvs_c": "c.*35-6204G>A",
"hgvs_p": null,
"transcript": "NM_001415148.1",
"protein_id": "NP_001402077.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 453,
"cds_start": -4,
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"cdna_start": null,
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"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,
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"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FOXO3",
"gene_hgnc_id": 3821,
"hgvs_c": "c.*35-6204G>A",
"hgvs_p": null,
"transcript": "NM_001415149.1",
"protein_id": "NP_001402078.1",
"transcript_support_level": null,
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"aa_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FOXO3",
"gene_hgnc_id": 3821,
"hgvs_c": "c.622-6204G>A",
"hgvs_p": null,
"transcript": "NM_001415150.1",
"protein_id": "NP_001402079.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FOXO3",
"gene_hgnc_id": 3821,
"hgvs_c": "c.*35-6204G>A",
"hgvs_p": null,
"transcript": "XM_017010585.2",
"protein_id": "XP_016866074.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 484,
"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": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FOXO3",
"gene_hgnc_id": 3821,
"hgvs_c": "c.*35-6204G>A",
"hgvs_p": null,
"transcript": "XM_017010586.2",
"protein_id": "XP_016866075.1",
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"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 7893,
"mane_select": null,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "FOXO3",
"gene_hgnc_id": 3821,
"dbsnp": "rs9398172",
"frequency_reference_population": 0.545243,
"hom_count_reference_population": 26528,
"allele_count_reference_population": 82950,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.545243,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 82950,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 26528,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8299999833106995,
"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": -0.83,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.483,
"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": "NM_001455.4",
"gene_symbol": "FOXO3",
"hgnc_id": 3821,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.*35-6204G>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
}