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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: 22-36495811-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=36495811&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 36495811,
"ref": "C",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000397224.9",
"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": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "FOXRED2",
"gene_hgnc_id": 26264,
"hgvs_c": "c.1624+156G>T",
"hgvs_p": null,
"transcript": "NM_001102371.2",
"protein_id": "NP_001095841.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 684,
"cds_start": -4,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4906,
"mane_select": "ENST00000397224.9",
"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": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "FOXRED2",
"gene_hgnc_id": 26264,
"hgvs_c": "c.1624+156G>T",
"hgvs_p": null,
"transcript": "ENST00000397224.9",
"protein_id": "ENSP00000380401.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 684,
"cds_start": -4,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4906,
"mane_select": "NM_001102371.2",
"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": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "FOXRED2",
"gene_hgnc_id": 26264,
"hgvs_c": "c.1624+156G>T",
"hgvs_p": null,
"transcript": "ENST00000216187.10",
"protein_id": "ENSP00000216187.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 684,
"cds_start": -4,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3933,
"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": 6,
"intron_rank_end": null,
"gene_symbol": "FOXRED2",
"gene_hgnc_id": 26264,
"hgvs_c": "c.1624+156G>T",
"hgvs_p": null,
"transcript": "ENST00000397223.4",
"protein_id": "ENSP00000380400.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 684,
"cds_start": -4,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2184,
"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": 6,
"intron_rank_end": null,
"gene_symbol": "FOXRED2",
"gene_hgnc_id": 26264,
"hgvs_c": "c.1624+156G>T",
"hgvs_p": null,
"transcript": "NM_001438722.1",
"protein_id": "NP_001425651.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 684,
"cds_start": -4,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5491,
"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": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "FOXRED2",
"gene_hgnc_id": 26264,
"hgvs_c": "c.1624+156G>T",
"hgvs_p": null,
"transcript": "NM_024955.6",
"protein_id": "NP_079231.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 684,
"cds_start": -4,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5003,
"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": 6,
"intron_rank_end": null,
"gene_symbol": "FOXRED2",
"gene_hgnc_id": 26264,
"hgvs_c": "c.1624+156G>T",
"hgvs_p": null,
"transcript": "ENST00000684868.1",
"protein_id": "ENSP00000510800.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 684,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 5640,
"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": 6,
"intron_rank_end": null,
"gene_symbol": "FOXRED2",
"gene_hgnc_id": 26264,
"hgvs_c": "c.1624+156G>T",
"hgvs_p": null,
"transcript": "ENST00000686024.1",
"protein_id": "ENSP00000508760.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 676,
"cds_start": -4,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4407,
"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": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "FOXRED2",
"gene_hgnc_id": 26264,
"hgvs_c": "c.1624+156G>T",
"hgvs_p": null,
"transcript": "ENST00000689211.1",
"protein_id": "ENSP00000510330.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 676,
"cds_start": -4,
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"cds_length": 2031,
"cdna_start": null,
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"cdna_length": 3586,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 7,
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"gene_symbol": "FOXRED2",
"gene_hgnc_id": 26264,
"hgvs_c": "c.1624+156G>T",
"hgvs_p": null,
"transcript": "ENST00000692693.1",
"protein_id": "ENSP00000509182.1",
"transcript_support_level": null,
"aa_start": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "FOXRED2",
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"hgvs_c": "c.1383-2008G>T",
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"transcript": "ENST00000687273.1",
"protein_id": "ENSP00000510722.1",
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},
{
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"consequences": [
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],
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"gene_symbol": "FOXRED2",
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"hgvs_c": "c.1354+156G>T",
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"transcript": "NM_001363041.2",
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},
{
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],
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"gene_symbol": "FOXRED2",
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},
{
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],
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"gene_symbol": "FOXRED2",
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"hgvs_c": "c.1354+156G>T",
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},
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],
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"transcript": "ENST00000685224.1",
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},
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],
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"gene_symbol": "FOXRED2",
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"gene_symbol": "FOXRED2",
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},
{
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],
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"gene_symbol": "FOXRED2",
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"hgvs_c": "c.1102+156G>T",
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"transcript": "ENST00000688825.1",
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],
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],
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},
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],
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},
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],
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"gene_symbol": "FOXRED2",
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"hgvs_c": "n.1657+156G>T",
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"transcript": "ENST00000686867.1",
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},
{
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"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC105373020",
"gene_hgnc_id": null,
"hgvs_c": "n.-214C>A",
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"transcript": "XR_938226.3",
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"feature": null
}
],
"gene_symbol": "FOXRED2",
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"dbsnp": "rs5756219",
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"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.38651,
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"gnomad_genomes_ac": 58823,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 14541,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7799999713897705,
"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": -0.78,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.7,
"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": "ENST00000397224.9",
"gene_symbol": "FOXRED2",
"hgnc_id": 26264,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1624+156G>T",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "XR_938226.3",
"gene_symbol": "LOC105373020",
"hgnc_id": null,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-214C>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
}