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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: 9-120787749-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=120787749&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 120787749,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000608872.6",
"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": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FBXW2",
"gene_hgnc_id": 13608,
"hgvs_c": "c.490+20C>T",
"hgvs_p": null,
"transcript": "NM_012164.4",
"protein_id": "NP_036296.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 454,
"cds_start": -4,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9142,
"mane_select": "ENST00000608872.6",
"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": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FBXW2",
"gene_hgnc_id": 13608,
"hgvs_c": "c.490+20C>T",
"hgvs_p": null,
"transcript": "ENST00000608872.6",
"protein_id": "ENSP00000476369.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 454,
"cds_start": -4,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9142,
"mane_select": "NM_012164.4",
"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": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FBXW2",
"gene_hgnc_id": 13608,
"hgvs_c": "c.586+20C>T",
"hgvs_p": null,
"transcript": "NM_001375890.1",
"protein_id": "NP_001362819.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 486,
"cds_start": -4,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9404,
"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": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FBXW2",
"gene_hgnc_id": 13608,
"hgvs_c": "c.490+20C>T",
"hgvs_p": null,
"transcript": "NM_001375888.1",
"protein_id": "NP_001362817.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 454,
"cds_start": -4,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9136,
"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": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FBXW2",
"gene_hgnc_id": 13608,
"hgvs_c": "c.490+20C>T",
"hgvs_p": null,
"transcript": "ENST00000684001.2",
"protein_id": "ENSP00000507010.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 454,
"cds_start": -4,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8622,
"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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FBXW2",
"gene_hgnc_id": 13608,
"hgvs_c": "c.490+20C>T",
"hgvs_p": null,
"transcript": "ENST00000684047.2",
"protein_id": "ENSP00000508157.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 454,
"cds_start": -4,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8443,
"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": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FBXW2",
"gene_hgnc_id": 13608,
"hgvs_c": "c.103+20C>T",
"hgvs_p": null,
"transcript": "NM_001375889.1",
"protein_id": "NP_001362818.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 325,
"cds_start": -4,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9044,
"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": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FBXW2",
"gene_hgnc_id": 13608,
"hgvs_c": "c.103+20C>T",
"hgvs_p": null,
"transcript": "ENST00000684405.2",
"protein_id": "ENSP00000508243.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 325,
"cds_start": -4,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8270,
"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": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FBXW2",
"gene_hgnc_id": 13608,
"hgvs_c": "n.490+20C>T",
"hgvs_p": null,
"transcript": "ENST00000453291.2",
"protein_id": "ENSP00000398662.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 3560,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FBXW2",
"gene_hgnc_id": 13608,
"hgvs_c": "c.586+20C>T",
"hgvs_p": null,
"transcript": "XM_006717049.4",
"protein_id": "XP_006717112.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 486,
"cds_start": -4,
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"cdna_start": null,
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"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": 7,
"intron_rank": 2,
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"gene_symbol": "FBXW2",
"gene_hgnc_id": 13608,
"hgvs_c": "c.586+20C>T",
"hgvs_p": null,
"transcript": "XM_047423213.1",
"protein_id": "XP_047279169.1",
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"cdna_start": null,
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"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": 7,
"intron_rank": 3,
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"gene_symbol": "FBXW2",
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"transcript": "XM_006717051.3",
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},
{
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],
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"gene_symbol": "FBXW2",
"gene_hgnc_id": 13608,
"hgvs_c": "c.490+20C>T",
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"transcript": "XM_017014615.3",
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{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "FBXW2",
"gene_hgnc_id": 13608,
"hgvs_c": "c.490+20C>T",
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"transcript": "XM_024447509.2",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"gene_symbol": "FBXW2",
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"hgvs_c": "c.103+20C>T",
"hgvs_p": null,
"transcript": "XM_047423214.1",
"protein_id": "XP_047279170.1",
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},
{
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"strand": false,
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],
"exon_rank": null,
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"gene_symbol": "FBXW2",
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"hgvs_c": "c.103+20C>T",
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"transcript": "XM_047423215.1",
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},
{
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],
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"gene_symbol": "FBXW2",
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"hgvs_c": "c.586+20C>T",
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"transcript": "XM_047423216.1",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 3,
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"gene_symbol": "FBXW2",
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"hgvs_c": "c.103+20C>T",
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"transcript": "XM_047423217.1",
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},
{
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"strand": false,
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],
"exon_rank": null,
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"exon_count": 7,
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"gene_symbol": "FBXW2",
"gene_hgnc_id": 13608,
"hgvs_c": "c.103+20C>T",
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"transcript": "XM_047423218.1",
"protein_id": "XP_047279174.1",
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"feature": null
}
],
"gene_symbol": "FBXW2",
"gene_hgnc_id": 13608,
"dbsnp": "rs7026635",
"frequency_reference_population": 0.74507564,
"hom_count_reference_population": 441342,
"allele_count_reference_population": 1178133,
"gnomad_exomes_af": 0.742901,
"gnomad_genomes_af": 0.76551,
"gnomad_exomes_ac": 1061699,
"gnomad_genomes_ac": 116434,
"gnomad_exomes_homalt": 396454,
"gnomad_genomes_homalt": 44888,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9100000262260437,
"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": -0.91,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.816,
"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": "ENST00000608872.6",
"gene_symbol": "FBXW2",
"hgnc_id": 13608,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.490+20C>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
}