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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: 11-129916830-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=129916830&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 129916830,
"ref": "G",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000360871.8",
"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": 21,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "PRDM10",
"gene_hgnc_id": 13995,
"hgvs_c": "c.2325+297C>A",
"hgvs_p": null,
"transcript": "NM_199437.2",
"protein_id": "NP_955469.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1156,
"cds_start": -4,
"cds_end": null,
"cds_length": 3471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6305,
"mane_select": "ENST00000360871.8",
"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": 21,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "PRDM10",
"gene_hgnc_id": 13995,
"hgvs_c": "c.2325+297C>A",
"hgvs_p": null,
"transcript": "ENST00000360871.8",
"protein_id": "ENSP00000354118.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1156,
"cds_start": -4,
"cds_end": null,
"cds_length": 3471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6305,
"mane_select": "NM_199437.2",
"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": 22,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "PRDM10",
"gene_hgnc_id": 13995,
"hgvs_c": "c.2337+297C>A",
"hgvs_p": null,
"transcript": "ENST00000358825.9",
"protein_id": "ENSP00000351686.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1160,
"cds_start": -4,
"cds_end": null,
"cds_length": 3483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6322,
"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": 18,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "PRDM10",
"gene_hgnc_id": 13995,
"hgvs_c": "c.2079+297C>A",
"hgvs_p": null,
"transcript": "ENST00000526082.5",
"protein_id": "ENSP00000432237.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1074,
"cds_start": -4,
"cds_end": null,
"cds_length": 3225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3308,
"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": 18,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "PRDM10",
"gene_hgnc_id": 13995,
"hgvs_c": "c.2079+297C>A",
"hgvs_p": null,
"transcript": "ENST00000423662.6",
"protein_id": "ENSP00000398431.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1061,
"cds_start": -4,
"cds_end": null,
"cds_length": 3186,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5998,
"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": 16,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "PRDM10",
"gene_hgnc_id": 13995,
"hgvs_c": "c.2067+297C>A",
"hgvs_p": null,
"transcript": "ENST00000304538.10",
"protein_id": "ENSP00000302669.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1023,
"cds_start": -4,
"cds_end": null,
"cds_length": 3072,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5817,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "PRDM10",
"gene_hgnc_id": 13995,
"hgvs_c": "c.2337+297C>A",
"hgvs_p": null,
"transcript": "NM_020228.3",
"protein_id": "NP_064613.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1160,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 6317,
"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": 22,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "PRDM10",
"gene_hgnc_id": 13995,
"hgvs_c": "c.2337+297C>A",
"hgvs_p": null,
"transcript": "NM_001367893.1",
"protein_id": "NP_001354822.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1147,
"cds_start": -4,
"cds_end": null,
"cds_length": 3444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6278,
"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": 22,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "PRDM10",
"gene_hgnc_id": 13995,
"hgvs_c": "c.2271+297C>A",
"hgvs_p": null,
"transcript": "NM_001367892.1",
"protein_id": "NP_001354821.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1138,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 6251,
"mane_select": null,
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"feature": null
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 14,
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"gene_symbol": "PRDM10",
"gene_hgnc_id": 13995,
"hgvs_c": "c.2265+297C>A",
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"transcript": "NM_001367891.1",
"protein_id": "NP_001354820.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 15,
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"gene_symbol": "PRDM10",
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"hgvs_c": "c.2247+297C>A",
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"transcript": "ENST00000528746.5",
"protein_id": "ENSP00000431262.1",
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},
{
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],
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"gene_symbol": "PRDM10",
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},
{
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],
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"gene_symbol": "PRDM10",
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},
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],
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"gene_symbol": "PRDM10",
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},
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],
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},
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],
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"gene_symbol": "PRDM10",
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},
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],
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"gene_symbol": "PRDM10",
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"hgvs_c": "c.1488+297C>A",
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},
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],
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"gene_symbol": "PRDM10",
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"hgvs_c": "c.1476+297C>A",
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},
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],
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"gene_symbol": "PRDM10",
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"hgvs_c": "c.2337+297C>A",
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"transcript": "XM_047427311.1",
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},
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],
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"gene_symbol": "PRDM10",
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"transcript": "XM_047427312.1",
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"biotype": null,
"feature": null
}
],
"gene_symbol": "PRDM10",
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"dbsnp": "rs3734070",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000658501,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8799999952316284,
"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": -0.88,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.285,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000360871.8",
"gene_symbol": "PRDM10",
"hgnc_id": 13995,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2325+297C>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
}