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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: 11-118545538-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=118545538&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 118545538,
"ref": "C",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000264021.8",
"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": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "IFT46",
"gene_hgnc_id": 26146,
"hgvs_c": "c.734-44G>T",
"hgvs_p": null,
"transcript": "NM_001168618.2",
"protein_id": "NP_001162089.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 304,
"cds_start": -4,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1562,
"mane_select": "ENST00000264021.8",
"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": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "IFT46",
"gene_hgnc_id": 26146,
"hgvs_c": "c.734-44G>T",
"hgvs_p": null,
"transcript": "ENST00000264021.8",
"protein_id": "ENSP00000264021.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 304,
"cds_start": -4,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1562,
"mane_select": "NM_001168618.2",
"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": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "IFT46",
"gene_hgnc_id": 26146,
"hgvs_c": "c.887-44G>T",
"hgvs_p": null,
"transcript": "NM_020153.4",
"protein_id": "NP_064538.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 355,
"cds_start": -4,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1715,
"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": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "IFT46",
"gene_hgnc_id": 26146,
"hgvs_c": "c.887-44G>T",
"hgvs_p": null,
"transcript": "ENST00000264020.6",
"protein_id": "ENSP00000264020.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 355,
"cds_start": -4,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1819,
"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": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "IFT46",
"gene_hgnc_id": 26146,
"hgvs_c": "c.887-44G>T",
"hgvs_p": null,
"transcript": "ENST00000672656.2",
"protein_id": "ENSP00000499950.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 355,
"cds_start": -4,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1456,
"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": 8,
"intron_rank_end": null,
"gene_symbol": "TMEM25",
"gene_hgnc_id": 25890,
"hgvs_c": "c.1028-581C>A",
"hgvs_p": null,
"transcript": "NM_001144037.2",
"protein_id": "NP_001137509.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 351,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 2265,
"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": 8,
"intron_rank_end": null,
"gene_symbol": "TMEM25",
"gene_hgnc_id": 25890,
"hgvs_c": "c.1028-581C>A",
"hgvs_p": null,
"transcript": "ENST00000354284.8",
"protein_id": "ENSP00000346237.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 351,
"cds_start": -4,
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"cdna_start": null,
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"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TMEM25",
"gene_hgnc_id": 25890,
"hgvs_c": "c.893-581C>A",
"hgvs_p": null,
"transcript": "NM_001144038.2",
"protein_id": "NP_001137510.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 306,
"cds_start": -4,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2130,
"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": 7,
"intron_rank_end": null,
"gene_symbol": "TMEM25",
"gene_hgnc_id": 25890,
"hgvs_c": "c.893-581C>A",
"hgvs_p": null,
"transcript": "ENST00000442938.6",
"protein_id": "ENSP00000416071.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 306,
"cds_start": -4,
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"cds_length": 921,
"cdna_start": null,
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"cdna_length": 2228,
"mane_select": null,
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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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"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "IFT46",
"gene_hgnc_id": 26146,
"hgvs_c": "c.886+255G>T",
"hgvs_p": null,
"transcript": "ENST00000530872.5",
"protein_id": "ENSP00000432384.1",
"transcript_support_level": 5,
"aa_start": null,
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"gene_symbol": "IFT46",
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"hgvs_c": "n.1300-44G>T",
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"transcript": "ENST00000531201.5",
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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": "TMEM25",
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],
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},
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},
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],
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"gene_symbol": "TMEM25",
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"hgvs_c": "c.896-581C>A",
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"transcript": "XM_047427740.1",
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],
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],
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"consequences": [
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],
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"gene_symbol": "IFT46",
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"transcript": "XM_011542906.4",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "IFT46",
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"hgvs_c": "c.734-44G>T",
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
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"intron_variant"
],
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"gene_symbol": "TMEM25",
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"cds_start": -4,
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}
],
"gene_symbol": "IFT46",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
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"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7900000214576721,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.20000000298023224,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.79,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.846,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.2,
"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": "ENST00000264021.8",
"gene_symbol": "IFT46",
"hgnc_id": 26146,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.734-44G>T",
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},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001144037.2",
"gene_symbol": "TMEM25",
"hgnc_id": 25890,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1028-581C>A",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}