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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: 1-42227926-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=42227926&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 42227926,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000361346.6",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXJ3",
"gene_hgnc_id": 29178,
"hgvs_c": "c.485T>C",
"hgvs_p": "p.Val162Ala",
"transcript": "NM_014947.5",
"protein_id": "NP_055762.3",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 622,
"cds_start": 485,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 679,
"cdna_end": null,
"cdna_length": 5225,
"mane_select": "ENST00000361346.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXJ3",
"gene_hgnc_id": 29178,
"hgvs_c": "c.485T>C",
"hgvs_p": "p.Val162Ala",
"transcript": "ENST00000361346.6",
"protein_id": "ENSP00000354620.1",
"transcript_support_level": 1,
"aa_start": 162,
"aa_end": null,
"aa_length": 622,
"cds_start": 485,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 679,
"cdna_end": null,
"cdna_length": 5225,
"mane_select": "NM_014947.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXJ3",
"gene_hgnc_id": 29178,
"hgvs_c": "c.485T>C",
"hgvs_p": "p.Val162Ala",
"transcript": "ENST00000372572.5",
"protein_id": "ENSP00000361653.1",
"transcript_support_level": 1,
"aa_start": 162,
"aa_end": null,
"aa_length": 622,
"cds_start": 485,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 797,
"cdna_end": null,
"cdna_length": 5352,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXJ3",
"gene_hgnc_id": 29178,
"hgvs_c": "c.485T>C",
"hgvs_p": "p.Val162Ala",
"transcript": "ENST00000445886.5",
"protein_id": "ENSP00000393408.1",
"transcript_support_level": 1,
"aa_start": 162,
"aa_end": null,
"aa_length": 381,
"cds_start": 485,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 665,
"cdna_end": null,
"cdna_length": 1326,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXJ3",
"gene_hgnc_id": 29178,
"hgvs_c": "c.485T>C",
"hgvs_p": "p.Val162Ala",
"transcript": "NM_001198850.2",
"protein_id": "NP_001185779.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 622,
"cds_start": 485,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 757,
"cdna_end": null,
"cdna_length": 5303,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXJ3",
"gene_hgnc_id": 29178,
"hgvs_c": "c.485T>C",
"hgvs_p": "p.Val162Ala",
"transcript": "NM_001198851.2",
"protein_id": "NP_001185780.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 622,
"cds_start": 485,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 787,
"cdna_end": null,
"cdna_length": 5333,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXJ3",
"gene_hgnc_id": 29178,
"hgvs_c": "c.485T>C",
"hgvs_p": "p.Val162Ala",
"transcript": "ENST00000372573.5",
"protein_id": "ENSP00000361654.1",
"transcript_support_level": 2,
"aa_start": 162,
"aa_end": null,
"aa_length": 622,
"cds_start": 485,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 754,
"cdna_end": null,
"cdna_length": 5309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXJ3",
"gene_hgnc_id": 29178,
"hgvs_c": "c.485T>C",
"hgvs_p": "p.Val162Ala",
"transcript": "ENST00000545068.5",
"protein_id": "ENSP00000439044.1",
"transcript_support_level": 5,
"aa_start": 162,
"aa_end": null,
"aa_length": 622,
"cds_start": 485,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 616,
"cdna_end": null,
"cdna_length": 5165,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXJ3",
"gene_hgnc_id": 29178,
"hgvs_c": "c.485T>C",
"hgvs_p": "p.Val162Ala",
"transcript": "NM_001198852.2",
"protein_id": "NP_001185781.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 588,
"cds_start": 485,
"cds_end": null,
"cds_length": 1767,
"cdna_start": 679,
"cdna_end": null,
"cdna_length": 5123,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXJ3",
"gene_hgnc_id": 29178,
"hgvs_c": "c.485T>C",
"hgvs_p": "p.Val162Ala",
"transcript": "ENST00000361776.5",
"protein_id": "ENSP00000354449.1",
"transcript_support_level": 5,
"aa_start": 162,
"aa_end": null,
"aa_length": 588,
"cds_start": 485,
"cds_end": null,
"cds_length": 1767,
"cdna_start": 659,
"cdna_end": null,
"cdna_length": 5106,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXJ3",
"gene_hgnc_id": 29178,
"hgvs_c": "c.509T>C",
"hgvs_p": "p.Val170Ala",
"transcript": "XM_005270632.5",
"protein_id": "XP_005270689.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 630,
"cds_start": 509,
"cds_end": null,
"cds_length": 1893,
"cdna_start": 593,
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"cdna_length": 5139,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 6,
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"exon_count": 14,
"intron_rank": null,
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"gene_symbol": "FOXJ3",
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"hgvs_p": "p.Val162Ala",
"transcript": "XM_024454163.2",
"protein_id": "XP_024309931.1",
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"aa_start": 162,
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"aa_length": 622,
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"cdna_start": 901,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
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"exon_count": 14,
"intron_rank": null,
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"gene_symbol": "FOXJ3",
"gene_hgnc_id": 29178,
"hgvs_c": "c.485T>C",
"hgvs_p": "p.Val162Ala",
"transcript": "XM_047449471.1",
"protein_id": "XP_047305427.1",
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"cdna_start": 9198,
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},
{
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},
{
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"intron_rank": null,
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"gene_symbol": "FOXJ3",
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"hgvs_c": "c.485T>C",
"hgvs_p": "p.Val162Ala",
"transcript": "XM_047449478.1",
"protein_id": "XP_047305434.1",
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"cds_start": 485,
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"cdna_start": 521,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"strand": false,
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],
"exon_rank": 4,
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"intron_rank": null,
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"gene_symbol": "FOXJ3",
"gene_hgnc_id": 29178,
"hgvs_c": "c.440T>C",
"hgvs_p": "p.Val147Ala",
"transcript": "XM_006710458.5",
"protein_id": "XP_006710521.1",
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},
{
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"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "FOXJ3",
"gene_hgnc_id": 29178,
"hgvs_c": "c.440T>C",
"hgvs_p": "p.Val147Ala",
"transcript": "XM_047449486.1",
"protein_id": "XP_047305442.1",
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"cdna_start": 705,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXJ3",
"gene_hgnc_id": 29178,
"hgvs_c": "c.509T>C",
"hgvs_p": "p.Val170Ala",
"transcript": "XM_006710459.4",
"protein_id": "XP_006710522.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 596,
"cds_start": 509,
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"cdna_start": 593,
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},
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"gene_symbol": "FOXJ3",
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"protein_id": "XP_047305444.1",
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},
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"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXJ3",
"gene_hgnc_id": 29178,
"hgvs_c": "c.485T>C",
"hgvs_p": "p.Val162Ala",
"transcript": "XM_047449489.1",
"protein_id": "XP_047305445.1",
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"aa_end": null,
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"cdna_start": 9008,
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"feature": null
},
{
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"strand": false,
"consequences": [
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],
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"gene_symbol": "FOXJ3",
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"protein_id": "XP_016856182.1",
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"aa_length": 573,
"cds_start": 440,
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"cdna_start": 614,
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"cdna_length": 5058,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXJ3",
"gene_hgnc_id": 29178,
"hgvs_c": "c.179T>C",
"hgvs_p": "p.Val60Ala",
"transcript": "XM_017000694.2",
"protein_id": "XP_016856183.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 520,
"cds_start": 179,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 653,
"cdna_end": null,
"cdna_length": 5199,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FOXJ3",
"gene_hgnc_id": 29178,
"dbsnp": "rs343376",
"frequency_reference_population": 0.7917652,
"hom_count_reference_population": 494393,
"allele_count_reference_population": 1245282,
"gnomad_exomes_af": 0.791663,
"gnomad_genomes_af": 0.792718,
"gnomad_exomes_ac": 1124670,
"gnomad_genomes_ac": 120612,
"gnomad_exomes_homalt": 446492,
"gnomad_genomes_homalt": 47901,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.000001146453996625496,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.226,
"revel_prediction": "Benign",
"alphamissense_score": 0.0474,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.913,
"phylop100way_prediction": "Uncertain_significance",
"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": "ENST00000361346.6",
"gene_symbol": "FOXJ3",
"hgnc_id": 29178,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.485T>C",
"hgvs_p": "p.Val162Ala"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}