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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: 14-50294145-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=50294145&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 50294145,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000267436.9",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L2HGDH",
"gene_hgnc_id": 20499,
"hgvs_c": "c.510G>A",
"hgvs_p": "p.Glu170Glu",
"transcript": "NM_024884.3",
"protein_id": "NP_079160.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 463,
"cds_start": 510,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 589,
"cdna_end": null,
"cdna_length": 6095,
"mane_select": "ENST00000267436.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L2HGDH",
"gene_hgnc_id": 20499,
"hgvs_c": "c.510G>A",
"hgvs_p": "p.Glu170Glu",
"transcript": "ENST00000267436.9",
"protein_id": "ENSP00000267436.4",
"transcript_support_level": 1,
"aa_start": 170,
"aa_end": null,
"aa_length": 463,
"cds_start": 510,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 589,
"cdna_end": null,
"cdna_length": 6095,
"mane_select": "NM_024884.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L2HGDH",
"gene_hgnc_id": 20499,
"hgvs_c": "c.510G>A",
"hgvs_p": "p.Glu170Glu",
"transcript": "ENST00000261699.8",
"protein_id": "ENSP00000261699.4",
"transcript_support_level": 1,
"aa_start": 170,
"aa_end": null,
"aa_length": 441,
"cds_start": 510,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 528,
"cdna_end": null,
"cdna_length": 1377,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L2HGDH",
"gene_hgnc_id": 20499,
"hgvs_c": "c.510G>A",
"hgvs_p": "p.Glu170Glu",
"transcript": "ENST00000555423.5",
"protein_id": "ENSP00000450494.1",
"transcript_support_level": 1,
"aa_start": 170,
"aa_end": null,
"aa_length": 236,
"cds_start": 510,
"cds_end": null,
"cds_length": 711,
"cdna_start": 586,
"cdna_end": null,
"cdna_length": 841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L2HGDH",
"gene_hgnc_id": 20499,
"hgvs_c": "c.510G>A",
"hgvs_p": "p.Glu170Glu",
"transcript": "NM_001425212.1",
"protein_id": "NP_001412141.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 463,
"cds_start": 510,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 589,
"cdna_end": null,
"cdna_length": 5175,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L2HGDH",
"gene_hgnc_id": 20499,
"hgvs_c": "c.510G>A",
"hgvs_p": "p.Glu170Glu",
"transcript": "ENST00000421284.7",
"protein_id": "ENSP00000405559.3",
"transcript_support_level": 2,
"aa_start": 170,
"aa_end": null,
"aa_length": 463,
"cds_start": 510,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 589,
"cdna_end": null,
"cdna_length": 1958,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L2HGDH",
"gene_hgnc_id": 20499,
"hgvs_c": "c.399G>A",
"hgvs_p": "p.Glu133Glu",
"transcript": "NM_001425213.1",
"protein_id": "NP_001412142.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 426,
"cds_start": 399,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 732,
"cdna_end": null,
"cdna_length": 5318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L2HGDH",
"gene_hgnc_id": 20499,
"hgvs_c": "c.399G>A",
"hgvs_p": "p.Glu133Glu",
"transcript": "NM_001425214.1",
"protein_id": "NP_001412143.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 426,
"cds_start": 399,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 732,
"cdna_end": null,
"cdna_length": 6238,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L2HGDH",
"gene_hgnc_id": 20499,
"hgvs_c": "c.510G>A",
"hgvs_p": "p.Glu170Glu",
"transcript": "ENST00000555610.1",
"protein_id": "ENSP00000452483.1",
"transcript_support_level": 5,
"aa_start": 170,
"aa_end": null,
"aa_length": 211,
"cds_start": 510,
"cds_end": null,
"cds_length": 636,
"cdna_start": 514,
"cdna_end": null,
"cdna_length": 804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L2HGDH",
"gene_hgnc_id": 20499,
"hgvs_c": "c.399G>A",
"hgvs_p": "p.Glu133Glu",
"transcript": "XM_017021655.3",
"protein_id": "XP_016877144.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 426,
"cds_start": 399,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 1035,
"cdna_end": null,
"cdna_length": 6541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L2HGDH",
"gene_hgnc_id": 20499,
"hgvs_c": "c.375G>A",
"hgvs_p": "p.Glu125Glu",
"transcript": "XM_011537167.4",
"protein_id": "XP_011535469.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 418,
"cds_start": 375,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 975,
"cdna_end": null,
"cdna_length": 6481,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L2HGDH",
"gene_hgnc_id": 20499,
"hgvs_c": "n.589G>A",
"hgvs_p": null,
"transcript": "XR_007064046.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L2HGDH",
"gene_hgnc_id": 20499,
"hgvs_c": "n.589G>A",
"hgvs_p": null,
"transcript": "XR_007064047.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 953,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L2HGDH",
"gene_hgnc_id": 20499,
"hgvs_c": "c.-116G>A",
"hgvs_p": null,
"transcript": "NM_001425215.1",
"protein_id": "NP_001412144.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 281,
"cds_start": -4,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"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": [
"5_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L2HGDH",
"gene_hgnc_id": 20499,
"hgvs_c": "c.-37G>A",
"hgvs_p": null,
"transcript": "NM_001425216.1",
"protein_id": "NP_001412145.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 281,
"cds_start": -4,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5239,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L2HGDH",
"gene_hgnc_id": 20499,
"hgvs_c": "c.-194G>A",
"hgvs_p": null,
"transcript": "NM_001425217.1",
"protein_id": "NP_001412146.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 281,
"cds_start": -4,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5332,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L2HGDH",
"gene_hgnc_id": 20499,
"hgvs_c": "c.-116G>A",
"hgvs_p": null,
"transcript": "NM_001425218.1",
"protein_id": "NP_001412147.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 281,
"cds_start": -4,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L2HGDH",
"gene_hgnc_id": 20499,
"hgvs_c": "n.*373G>A",
"hgvs_p": null,
"transcript": "ENST00000554191.5",
"protein_id": "ENSP00000451194.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "L2HGDH",
"gene_hgnc_id": 20499,
"dbsnp": "rs151305613",
"frequency_reference_population": 0.00022369035,
"hom_count_reference_population": 0,
"allele_count_reference_population": 361,
"gnomad_exomes_af": 0.000142293,
"gnomad_genomes_af": 0.00100614,
"gnomad_exomes_ac": 208,
"gnomad_genomes_ac": 153,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.38999998569488525,
"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": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.087,
"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": -15,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BS1",
"acmg_by_gene": [
{
"score": -15,
"benign_score": 15,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BS1"
],
"verdict": "Benign",
"transcript": "ENST00000267436.9",
"gene_symbol": "L2HGDH",
"hgnc_id": 20499,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.510G>A",
"hgvs_p": "p.Glu170Glu"
}
],
"clinvar_disease": "L-2-hydroxyglutaric aciduria,L2HGDH-related disorder,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided|L-2-hydroxyglutaric aciduria|L2HGDH-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}