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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: 14-24081483-T-TCGTCGCGCCCGCAGCCCCG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=24081483&ref=T&alt=TCGTCGCGCCCGCAGCCCCG&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 24081483,
"ref": "T",
"alt": "TCGTCGCGCCCGCAGCCCCG",
"effect": "frameshift_variant",
"transcript": "ENST00000561028.6",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "AGLRARR?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRL",
"gene_hgnc_id": 8002,
"hgvs_c": "c.448_466dupCGGGGCTGCGGGCGCGACG",
"hgvs_p": "p.Glu156fs",
"transcript": "NM_001354768.3",
"protein_id": "NP_001341697.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 237,
"cds_start": 466,
"cds_end": null,
"cds_length": 714,
"cdna_start": 721,
"cdna_end": null,
"cdna_length": 3543,
"mane_select": "ENST00000561028.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "AGLRARR?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRL",
"gene_hgnc_id": 8002,
"hgvs_c": "c.448_466dupCGGGGCTGCGGGCGCGACG",
"hgvs_p": "p.Glu156fs",
"transcript": "ENST00000561028.6",
"protein_id": "ENSP00000454062.2",
"transcript_support_level": 2,
"aa_start": 156,
"aa_end": null,
"aa_length": 237,
"cds_start": 466,
"cds_end": null,
"cds_length": 714,
"cdna_start": 721,
"cdna_end": null,
"cdna_length": 3543,
"mane_select": "NM_001354768.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "AGLRARR?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRL",
"gene_hgnc_id": 8002,
"hgvs_c": "c.448_466dupCGGGGCTGCGGGCGCGACG",
"hgvs_p": "p.Glu156fs",
"transcript": "ENST00000396997.1",
"protein_id": "ENSP00000380193.1",
"transcript_support_level": 1,
"aa_start": 156,
"aa_end": null,
"aa_length": 237,
"cds_start": 466,
"cds_end": null,
"cds_length": 714,
"cdna_start": 910,
"cdna_end": null,
"cdna_length": 1517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "AGLRARR?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRL",
"gene_hgnc_id": 8002,
"hgvs_c": "c.448_466dupCGGGGCTGCGGGCGCGACG",
"hgvs_p": "p.Glu156fs",
"transcript": "ENST00000397002.6",
"protein_id": "ENSP00000380197.2",
"transcript_support_level": 1,
"aa_start": 156,
"aa_end": null,
"aa_length": 237,
"cds_start": 466,
"cds_end": null,
"cds_length": 714,
"cdna_start": 599,
"cdna_end": null,
"cdna_length": 1976,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "AGLRARR?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRL",
"gene_hgnc_id": 8002,
"hgvs_c": "c.31_49dupCGGGGCTGCGGGCGCGACG",
"hgvs_p": "p.Glu17fs",
"transcript": "ENST00000396995.1",
"protein_id": "ENSP00000380191.1",
"transcript_support_level": 1,
"aa_start": 17,
"aa_end": null,
"aa_length": 98,
"cds_start": 49,
"cds_end": null,
"cds_length": 297,
"cdna_start": 334,
"cdna_end": null,
"cdna_length": 810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "AGLRARR?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRL",
"gene_hgnc_id": 8002,
"hgvs_c": "c.31_49dupCGGGGCTGCGGGCGCGACG",
"hgvs_p": "p.Glu17fs",
"transcript": "ENST00000560550.1",
"protein_id": "ENSP00000452966.1",
"transcript_support_level": 1,
"aa_start": 17,
"aa_end": null,
"aa_length": 98,
"cds_start": 49,
"cds_end": null,
"cds_length": 297,
"cdna_start": 304,
"cdna_end": null,
"cdna_length": 788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "AGLRARR?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRL",
"gene_hgnc_id": 8002,
"hgvs_c": "c.448_466dupCGGGGCTGCGGGCGCGACG",
"hgvs_p": "p.Glu156fs",
"transcript": "NM_001354769.1",
"protein_id": "NP_001341698.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 237,
"cds_start": 466,
"cds_end": null,
"cds_length": 714,
"cdna_start": 910,
"cdna_end": null,
"cdna_length": 3708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "AGLRARR?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRL",
"gene_hgnc_id": 8002,
"hgvs_c": "c.448_466dupCGGGGCTGCGGGCGCGACG",
"hgvs_p": "p.Glu156fs",
"transcript": "NM_006177.5",
"protein_id": "NP_006168.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 237,
"cds_start": 466,
"cds_end": null,
"cds_length": 714,
"cdna_start": 947,
"cdna_end": null,
"cdna_length": 3731,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "AGLRARR?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRL",
"gene_hgnc_id": 8002,
"hgvs_c": "c.133_151dupCGGGGCTGCGGGCGCGACG",
"hgvs_p": "p.Glu51fs",
"transcript": "NM_001354770.2",
"protein_id": "NP_001341699.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 132,
"cds_start": 151,
"cds_end": null,
"cds_length": 399,
"cdna_start": 406,
"cdna_end": null,
"cdna_length": 3190,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "AGLRARR?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRL",
"gene_hgnc_id": 8002,
"hgvs_c": "c.754_772dupCGGGGCTGCGGGCGCGACG",
"hgvs_p": "p.Glu258fs",
"transcript": "XM_011536801.3",
"protein_id": "XP_011535103.2",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 339,
"cds_start": 772,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 796,
"cdna_end": null,
"cdna_length": 3618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "AGLRARR?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRL",
"gene_hgnc_id": 8002,
"hgvs_c": "c.448_466dupCGGGGCTGCGGGCGCGACG",
"hgvs_p": "p.Glu156fs",
"transcript": "XM_011536805.3",
"protein_id": "XP_011535107.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 237,
"cds_start": 466,
"cds_end": null,
"cds_length": 714,
"cdna_start": 633,
"cdna_end": null,
"cdna_length": 3455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "AGLRARR?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRL",
"gene_hgnc_id": 8002,
"hgvs_c": "c.439_457dupCGGGGCTGCGGGCGCGACG",
"hgvs_p": "p.Glu153fs",
"transcript": "XM_011536806.3",
"protein_id": "XP_011535108.2",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 234,
"cds_start": 457,
"cds_end": null,
"cds_length": 705,
"cdna_start": 481,
"cdna_end": null,
"cdna_length": 3303,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NRL",
"gene_hgnc_id": 8002,
"dbsnp": "rs1555339028",
"frequency_reference_population": 0.0000013873128,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000138731,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 4.981,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PVS1_Strong",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PVS1_Strong"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000561028.6",
"gene_symbol": "NRL",
"hgnc_id": 8002,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.448_466dupCGGGGCTGCGGGCGCGACG",
"hgvs_p": "p.Glu156fs"
}
],
"clinvar_disease": "6 conditions,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "6 conditions|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}