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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: 4-184421904-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=184421904&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 184421904,
"ref": "T",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000393593.8",
"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": 2,
"intron_rank_end": null,
"gene_symbol": "IRF2",
"gene_hgnc_id": 6117,
"hgvs_c": "c.88-2336A>C",
"hgvs_p": null,
"transcript": "NM_002199.4",
"protein_id": "NP_002190.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 349,
"cds_start": -4,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2257,
"mane_select": "ENST00000393593.8",
"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": 2,
"intron_rank_end": null,
"gene_symbol": "IRF2",
"gene_hgnc_id": 6117,
"hgvs_c": "c.88-2336A>C",
"hgvs_p": null,
"transcript": "ENST00000393593.8",
"protein_id": "ENSP00000377218.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 349,
"cds_start": -4,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2257,
"mane_select": "NM_002199.4",
"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": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IRF2",
"gene_hgnc_id": 6117,
"hgvs_c": "c.88-2336A>C",
"hgvs_p": null,
"transcript": "ENST00000505067.6",
"protein_id": "ENSP00000421927.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 384,
"cds_start": -4,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2168,
"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": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "IRF2",
"gene_hgnc_id": 6117,
"hgvs_c": "c.88-2336A>C",
"hgvs_p": null,
"transcript": "ENST00000504340.2",
"protein_id": "ENSP00000512878.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 349,
"cds_start": -4,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3490,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "IRF2",
"gene_hgnc_id": 6117,
"hgvs_c": "c.88-2336A>C",
"hgvs_p": null,
"transcript": "ENST00000510814.6",
"protein_id": "ENSP00000424552.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 349,
"cds_start": -4,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2103,
"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": 11,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "IRF2",
"gene_hgnc_id": 6117,
"hgvs_c": "c.88-2336A>C",
"hgvs_p": null,
"transcript": "ENST00000696840.1",
"protein_id": "ENSP00000512918.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 349,
"cds_start": -4,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4511,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "IRF2",
"gene_hgnc_id": 6117,
"hgvs_c": "c.88-2336A>C",
"hgvs_p": null,
"transcript": "ENST00000696841.1",
"protein_id": "ENSP00000512954.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 349,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2316,
"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": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "IRF2",
"gene_hgnc_id": 6117,
"hgvs_c": "c.88-2336A>C",
"hgvs_p": null,
"transcript": "ENST00000696843.1",
"protein_id": "ENSP00000512920.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 349,
"cds_start": -4,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2320,
"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": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "IRF2",
"gene_hgnc_id": 6117,
"hgvs_c": "c.88-2336A>C",
"hgvs_p": null,
"transcript": "ENST00000696845.1",
"protein_id": "ENSP00000512922.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 349,
"cds_start": -4,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2449,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"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": 12,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "IRF2",
"gene_hgnc_id": 6117,
"hgvs_c": "c.88-2336A>C",
"hgvs_p": null,
"transcript": "ENST00000696846.1",
"protein_id": "ENSP00000512923.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 2,
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"gene_symbol": "IRF2",
"gene_hgnc_id": 6117,
"hgvs_c": "c.88-2336A>C",
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"transcript": "ENST00000696849.1",
"protein_id": "ENSP00000512925.1",
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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": "IRF2",
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},
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],
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"transcript": "ENST00000502750.2",
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},
{
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],
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"gene_symbol": "IRF2",
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},
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],
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"hgvs_c": "c.88-2336A>C",
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"transcript": "ENST00000506230.5",
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},
{
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],
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"gene_symbol": "IRF2",
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"hgvs_c": "n.212-2336A>C",
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"transcript": "ENST00000509274.1",
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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": "IRF2",
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"transcript": "ENST00000696850.1",
"protein_id": "ENSP00000512926.1",
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},
{
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"strand": false,
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"intron_variant"
],
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"exon_count": 10,
"intron_rank": 3,
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"gene_symbol": "IRF2",
"gene_hgnc_id": 6117,
"hgvs_c": "n.*62-2336A>C",
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"protein_id": "ENSP00000512928.1",
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"feature": null
}
],
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"dbsnp": "rs1425551",
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"gnomad_exomes_af": null,
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"gnomad_genomes_ac": 58453,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 12431,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9599999785423279,
"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,
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"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.96,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.541,
"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": "ENST00000393593.8",
"gene_symbol": "IRF2",
"hgnc_id": 6117,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.88-2336A>C",
"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
}