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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: 7-128938253-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=128938253&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 128938253,
"ref": "C",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000357234.10",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "c.-12+204C>G",
"hgvs_p": null,
"transcript": "NM_001098629.3",
"protein_id": "NP_001092099.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 514,
"cds_start": -4,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2899,
"mane_select": "ENST00000357234.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "c.-12+204C>G",
"hgvs_p": null,
"transcript": "ENST00000357234.10",
"protein_id": "ENSP00000349770.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 514,
"cds_start": -4,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2899,
"mane_select": "NM_001098629.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "c.-12+204C>G",
"hgvs_p": null,
"transcript": "ENST00000402030.6",
"protein_id": "ENSP00000385352.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 498,
"cds_start": -4,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "c.-12+204C>G",
"hgvs_p": null,
"transcript": "ENST00000477535.5",
"protein_id": "ENSP00000419950.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 412,
"cds_start": -4,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "c.-12+988C>G",
"hgvs_p": null,
"transcript": "NM_001347928.2",
"protein_id": "NP_001334857.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 514,
"cds_start": -4,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "c.-12+419C>G",
"hgvs_p": null,
"transcript": "ENST00000489702.6",
"protein_id": "ENSP00000418037.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 514,
"cds_start": -4,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2988,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "c.-12+204C>G",
"hgvs_p": null,
"transcript": "NM_001098630.3",
"protein_id": "NP_001092100.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 498,
"cds_start": -4,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2851,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "c.-12+8C>G",
"hgvs_p": null,
"transcript": "NM_032643.5",
"protein_id": "NP_116032.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 498,
"cds_start": -4,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "c.-12+204C>G",
"hgvs_p": null,
"transcript": "NM_001242452.3",
"protein_id": "NP_001229381.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 412,
"cds_start": -4,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "c.-125+204C>G",
"hgvs_p": null,
"transcript": "ENST00000479582.5",
"protein_id": "ENSP00000417770.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 140,
"cds_start": -4,
"cds_end": null,
"cds_length": 425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "c.-158+204C>G",
"hgvs_p": null,
"transcript": "ENST00000464557.5",
"protein_id": "ENSP00000419056.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 105,
"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"canonical": false,
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"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 2,
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"gene_symbol": "IRF5",
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"hgvs_c": "c.-12+559C>G",
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"transcript": "ENST00000652525.1",
"protein_id": "ENSP00000498293.1",
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},
{
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"strand": true,
"consequences": [
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],
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"exon_count": 6,
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"gene_symbol": "IRF5",
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"hgvs_c": "n.69+204C>G",
"hgvs_p": null,
"transcript": "ENST00000461416.1",
"protein_id": null,
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"aa_start": null,
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},
{
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"strand": true,
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],
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"gene_symbol": "IRF5",
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"hgvs_c": "n.-12+204C>G",
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"transcript": "ENST00000473787.5",
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},
{
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],
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"transcript": "ENST00000488569.5",
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 1,
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"gene_symbol": "IRF5",
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"hgvs_c": "n.29+8C>G",
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},
{
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],
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"gene_symbol": "IRF5",
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},
{
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"protein_coding": false,
"strand": true,
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],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 1,
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"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "n.52+419C>G",
"hgvs_p": null,
"transcript": "ENST00000700148.1",
"protein_id": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
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"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "c.-12+8C>G",
"hgvs_p": null,
"transcript": "XM_006715974.3",
"protein_id": "XP_006716037.1",
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},
{
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],
"exon_rank": null,
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"gene_symbol": "IRF5",
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},
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],
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"intron_rank": 1,
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"gene_symbol": "IRF5",
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},
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"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "c.-12+419C>G",
"hgvs_p": null,
"transcript": "XM_047420338.1",
"protein_id": "XP_047276294.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "c.-12+204C>G",
"hgvs_p": null,
"transcript": "XM_047420340.1",
"protein_id": "XP_047276296.1",
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}
],
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"dbsnp": "rs41298401",
"frequency_reference_population": 0.036107574,
"hom_count_reference_population": 284,
"allele_count_reference_population": 5502,
"gnomad_exomes_af": 0.0426829,
"gnomad_genomes_af": 0.0361005,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 5495,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 284,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7400000095367432,
"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": -0.74,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.185,
"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": "ENST00000357234.10",
"gene_symbol": "IRF5",
"hgnc_id": 6120,
"effects": [
"intron_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.-12+204C>G",
"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
}