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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: 7-103017295-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=103017295&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 103017295,
"ref": "A",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000440067.4",
"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": 21,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "FBXL13",
"gene_hgnc_id": 21658,
"hgvs_c": "c.765+7768T>A",
"hgvs_p": null,
"transcript": "NM_001394494.2",
"protein_id": "NP_001381423.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 825,
"cds_start": -4,
"cds_end": null,
"cds_length": 2478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4657,
"mane_select": "ENST00000440067.4",
"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": 21,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "FBXL13",
"gene_hgnc_id": 21658,
"hgvs_c": "c.765+7768T>A",
"hgvs_p": null,
"transcript": "ENST00000440067.4",
"protein_id": "ENSP00000390126.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 825,
"cds_start": -4,
"cds_end": null,
"cds_length": 2478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4657,
"mane_select": "NM_001394494.2",
"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": 19,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "FBXL13",
"gene_hgnc_id": 21658,
"hgvs_c": "n.*494+7768T>A",
"hgvs_p": null,
"transcript": "ENST00000379305.7",
"protein_id": "ENSP00000368607.4",
"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": 2478,
"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": 21,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "FBXL13",
"gene_hgnc_id": 21658,
"hgvs_c": "n.765+7768T>A",
"hgvs_p": null,
"transcript": "ENST00000448002.6",
"protein_id": "ENSP00000405434.2",
"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": 2582,
"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": 19,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "FBXL13",
"gene_hgnc_id": 21658,
"hgvs_c": "n.*494+7768T>A",
"hgvs_p": null,
"transcript": "ENST00000455112.7",
"protein_id": "ENSP00000391550.3",
"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": 2319,
"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": 13,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "FBXL13",
"gene_hgnc_id": 21658,
"hgvs_c": "n.*494+7768T>A",
"hgvs_p": null,
"transcript": "ENST00000456695.6",
"protein_id": "ENSP00000409716.2",
"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": 1650,
"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": 20,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "FBXL13",
"gene_hgnc_id": 21658,
"hgvs_c": "c.495+7768T>A",
"hgvs_p": null,
"transcript": "NM_145032.3",
"protein_id": "NP_659469.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 735,
"cds_start": -4,
"cds_end": null,
"cds_length": 2208,
"cdna_start": null,
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"cdna_length": 3116,
"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": 20,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "FBXL13",
"gene_hgnc_id": 21658,
"hgvs_c": "c.495+7768T>A",
"hgvs_p": null,
"transcript": "ENST00000313221.8",
"protein_id": "ENSP00000321927.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 735,
"cds_start": -4,
"cds_end": null,
"cds_length": 2208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2744,
"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": 19,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "FBXL13",
"gene_hgnc_id": 21658,
"hgvs_c": "c.495+7768T>A",
"hgvs_p": null,
"transcript": "NM_001287150.2",
"protein_id": "NP_001274079.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 707,
"cds_start": -4,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "FBXL13",
"gene_hgnc_id": 21658,
"hgvs_c": "c.495+7768T>A",
"hgvs_p": null,
"transcript": "NM_001111038.2",
"protein_id": "NP_001104508.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 690,
"cds_start": -4,
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"cdna_start": null,
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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": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 6,
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"gene_symbol": "FBXL13",
"gene_hgnc_id": 21658,
"hgvs_c": "n.755+7768T>A",
"hgvs_p": null,
"transcript": "ENST00000436908.5",
"protein_id": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 8,
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"gene_symbol": "FBXL13",
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"transcript": "ENST00000471074.1",
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},
{
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],
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"gene_symbol": "FBXL13",
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},
{
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],
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"gene_symbol": "FBXL13",
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"hgvs_c": "c.756+7768T>A",
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],
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},
{
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],
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"gene_symbol": "FBXL13",
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"hgvs_c": "c.765+7768T>A",
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},
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],
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"gene_symbol": "FBXL13",
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"hgvs_c": "c.765+7768T>A",
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"transcript": "XM_011515929.4",
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},
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],
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},
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],
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"gene_symbol": "FBXL13",
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"hgvs_c": "c.495+7768T>A",
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"transcript": "XM_011515930.3",
"protein_id": "XP_011514232.1",
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},
{
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"consequences": [
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],
"exon_rank": null,
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"exon_count": 20,
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"gene_symbol": "FBXL13",
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"hgvs_c": "c.495+7768T>A",
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"transcript": "XM_017011853.2",
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},
{
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{
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},
{
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}
],
"gene_symbol": "FBXL13",
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"allele_count_reference_population": 0,
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"gnomad_genomes_ac": null,
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"computational_score_selected": -0.9700000286102295,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_score": null,
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"bayesdelnoaf_score": -0.97,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.118,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"acmg_score": -2,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
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"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000440067.4",
"gene_symbol": "FBXL13",
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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
}