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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: 1-42315846-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=42315846&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "FOXJ3",
"hgnc_id": 29178,
"hgvs_c": "c.-17-4736A>C",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_014947.5",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000294990",
"hgnc_id": null,
"hgvs_c": "n.55-720T>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000727207.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.83,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8299999833106995,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 622,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5225,
"cdna_start": null,
"cds_end": null,
"cds_length": 1869,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_014947.5",
"gene_hgnc_id": 29178,
"gene_symbol": "FOXJ3",
"hgvs_c": "c.-17-4736A>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000361346.6",
"protein_coding": true,
"protein_id": "NP_055762.3",
"strand": false,
"transcript": "NM_014947.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 622,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5225,
"cdna_start": null,
"cds_end": null,
"cds_length": 1869,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000361346.6",
"gene_hgnc_id": 29178,
"gene_symbol": "FOXJ3",
"hgvs_c": "c.-17-4736A>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014947.5",
"protein_coding": true,
"protein_id": "ENSP00000354620.1",
"strand": false,
"transcript": "ENST00000361346.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 622,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5352,
"cdna_start": null,
"cds_end": null,
"cds_length": 1869,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000372572.5",
"gene_hgnc_id": 29178,
"gene_symbol": "FOXJ3",
"hgvs_c": "c.-127-391A>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000361653.1",
"strand": false,
"transcript": "ENST00000372572.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 381,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1326,
"cdna_start": null,
"cds_end": null,
"cds_length": 1146,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000445886.5",
"gene_hgnc_id": 29178,
"gene_symbol": "FOXJ3",
"hgvs_c": "c.-17-4736A>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000393408.1",
"strand": false,
"transcript": "ENST00000445886.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 622,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5303,
"cdna_start": null,
"cds_end": null,
"cds_length": 1869,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001198850.2",
"gene_hgnc_id": 29178,
"gene_symbol": "FOXJ3",
"hgvs_c": "c.-17-4736A>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001185779.1",
"strand": false,
"transcript": "NM_001198850.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 622,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5333,
"cdna_start": null,
"cds_end": null,
"cds_length": 1869,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001198851.2",
"gene_hgnc_id": 29178,
"gene_symbol": "FOXJ3",
"hgvs_c": "c.-127-391A>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001185780.1",
"strand": false,
"transcript": "NM_001198851.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 622,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5309,
"cdna_start": null,
"cds_end": null,
"cds_length": 1869,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000372573.5",
"gene_hgnc_id": 29178,
"gene_symbol": "FOXJ3",
"hgvs_c": "c.-17-4736A>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000361654.1",
"strand": false,
"transcript": "ENST00000372573.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 622,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4948,
"cdna_start": null,
"cds_end": null,
"cds_length": 1869,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000940311.1",
"gene_hgnc_id": 29178,
"gene_symbol": "FOXJ3",
"hgvs_c": "c.-17-4736A>C",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610370.1",
"strand": false,
"transcript": "ENST00000940311.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 622,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5352,
"cdna_start": null,
"cds_end": null,
"cds_length": 1869,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000959443.1",
"gene_hgnc_id": 29178,
"gene_symbol": "FOXJ3",
"hgvs_c": "c.-17-4736A>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629502.1",
"strand": false,
"transcript": "ENST00000959443.1",
"transcript_support_level": null
},
{
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"aa_length": 588,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5123,
"cdna_start": null,
"cds_end": null,
"cds_length": 1767,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001198852.2",
"gene_hgnc_id": 29178,
"gene_symbol": "FOXJ3",
"hgvs_c": "c.-17-4736A>C",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001185781.1",
"strand": false,
"transcript": "NM_001198852.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 1767,
"cds_start": null,
"consequences": [
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],
"exon_count": 12,
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"feature": "ENST00000361776.5",
"gene_hgnc_id": 29178,
"gene_symbol": "FOXJ3",
"hgvs_c": "c.-17-4736A>C",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000354449.1",
"strand": false,
"transcript": "ENST00000361776.5",
"transcript_support_level": 5
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 12,
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"feature": "ENST00000861681.1",
"gene_hgnc_id": 29178,
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"mane_plus": null,
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"protein_coding": true,
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},
{
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"consequences": [
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],
"exon_count": 12,
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"feature": "ENST00000861682.1",
"gene_hgnc_id": 29178,
"gene_symbol": "FOXJ3",
"hgvs_c": "c.-17-4736A>C",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531741.1",
"strand": false,
"transcript": "ENST00000861682.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 13,
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"feature": "ENST00000940310.1",
"gene_hgnc_id": 29178,
"gene_symbol": "FOXJ3",
"hgvs_c": "c.-17-4736A>C",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000610369.1",
"strand": false,
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},
{
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"cds_start": null,
"consequences": [
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],
"exon_count": 14,
"exon_rank": null,
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"feature": "XM_024454163.2",
"gene_hgnc_id": 29178,
"gene_symbol": "FOXJ3",
"hgvs_c": "c.-17-4736A>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_024309931.1",
"strand": false,
"transcript": "XM_024454163.2",
"transcript_support_level": null
},
{
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"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 1869,
"cds_start": null,
"consequences": [
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],
"exon_count": 14,
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"feature": "XM_047449471.1",
"gene_hgnc_id": 29178,
"gene_symbol": "FOXJ3",
"hgvs_c": "c.-17-4736A>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047305427.1",
"strand": false,
"transcript": "XM_047449471.1",
"transcript_support_level": null
},
{
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"consequences": [
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],
"exon_count": 14,
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"feature": "XM_047449474.1",
"gene_hgnc_id": 29178,
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"hgvs_c": "c.-17-4736A>C",
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"intron_rank": 2,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047305430.1",
"strand": false,
"transcript": "XM_047449474.1",
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},
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"consequences": [
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],
"exon_count": 12,
"exon_rank": null,
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"feature": "XM_047449488.1",
"gene_hgnc_id": 29178,
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"hgvs_c": "c.-17-4736A>C",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047305444.1",
"strand": false,
"transcript": "XM_047449488.1",
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},
{
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"consequences": [
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],
"exon_count": 13,
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"feature": "XM_047449489.1",
"gene_hgnc_id": 29178,
"gene_symbol": "FOXJ3",
"hgvs_c": "c.-17-4736A>C",
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"intron_rank": 2,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047305445.1",
"strand": false,
"transcript": "XM_047449489.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": null,
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"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 573,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000727207.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000294990",
"hgvs_c": "n.55-720T>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000727207.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 387,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000727208.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000294990",
"hgvs_c": "n.47+4315T>G",
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]
}