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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: 14-50267814-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=50267814&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 50267814,
"ref": "G",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000267436.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L2HGDH",
"gene_hgnc_id": 20499,
"hgvs_c": "c.1003C>A",
"hgvs_p": "p.Arg335Arg",
"transcript": "NM_024884.3",
"protein_id": "NP_079160.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 463,
"cds_start": 1003,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 1082,
"cdna_end": null,
"cdna_length": 6095,
"mane_select": "ENST00000267436.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L2HGDH",
"gene_hgnc_id": 20499,
"hgvs_c": "c.1003C>A",
"hgvs_p": "p.Arg335Arg",
"transcript": "ENST00000267436.9",
"protein_id": "ENSP00000267436.4",
"transcript_support_level": 1,
"aa_start": 335,
"aa_end": null,
"aa_length": 463,
"cds_start": 1003,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 1082,
"cdna_end": null,
"cdna_length": 6095,
"mane_select": "NM_024884.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L2HGDH",
"gene_hgnc_id": 20499,
"hgvs_c": "c.1003C>A",
"hgvs_p": "p.Arg335Arg",
"transcript": "ENST00000261699.8",
"protein_id": "ENSP00000261699.4",
"transcript_support_level": 1,
"aa_start": 335,
"aa_end": null,
"aa_length": 441,
"cds_start": 1003,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 1021,
"cdna_end": null,
"cdna_length": 1377,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L2HGDH",
"gene_hgnc_id": 20499,
"hgvs_c": "c.1003C>A",
"hgvs_p": "p.Arg335Arg",
"transcript": "NM_001425212.1",
"protein_id": "NP_001412141.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 463,
"cds_start": 1003,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 1082,
"cdna_end": null,
"cdna_length": 5175,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L2HGDH",
"gene_hgnc_id": 20499,
"hgvs_c": "c.1003C>A",
"hgvs_p": "p.Arg335Arg",
"transcript": "ENST00000421284.7",
"protein_id": "ENSP00000405559.3",
"transcript_support_level": 2,
"aa_start": 335,
"aa_end": null,
"aa_length": 463,
"cds_start": 1003,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 1082,
"cdna_end": null,
"cdna_length": 1958,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L2HGDH",
"gene_hgnc_id": 20499,
"hgvs_c": "c.892C>A",
"hgvs_p": "p.Arg298Arg",
"transcript": "NM_001425213.1",
"protein_id": "NP_001412142.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 426,
"cds_start": 892,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 1225,
"cdna_end": null,
"cdna_length": 5318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L2HGDH",
"gene_hgnc_id": 20499,
"hgvs_c": "c.892C>A",
"hgvs_p": "p.Arg298Arg",
"transcript": "NM_001425214.1",
"protein_id": "NP_001412143.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 426,
"cds_start": 892,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 1225,
"cdna_end": null,
"cdna_length": 6238,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L2HGDH",
"gene_hgnc_id": 20499,
"hgvs_c": "c.457C>A",
"hgvs_p": "p.Arg153Arg",
"transcript": "NM_001425215.1",
"protein_id": "NP_001412144.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 281,
"cds_start": 457,
"cds_end": null,
"cds_length": 846,
"cdna_start": 1304,
"cdna_end": null,
"cdna_length": 6317,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L2HGDH",
"gene_hgnc_id": 20499,
"hgvs_c": "c.457C>A",
"hgvs_p": "p.Arg153Arg",
"transcript": "NM_001425216.1",
"protein_id": "NP_001412145.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 281,
"cds_start": 457,
"cds_end": null,
"cds_length": 846,
"cdna_start": 1146,
"cdna_end": null,
"cdna_length": 5239,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L2HGDH",
"gene_hgnc_id": 20499,
"hgvs_c": "c.457C>A",
"hgvs_p": "p.Arg153Arg",
"transcript": "NM_001425217.1",
"protein_id": "NP_001412146.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 281,
"cds_start": 457,
"cds_end": null,
"cds_length": 846,
"cdna_start": 1239,
"cdna_end": null,
"cdna_length": 5332,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L2HGDH",
"gene_hgnc_id": 20499,
"hgvs_c": "c.457C>A",
"hgvs_p": "p.Arg153Arg",
"transcript": "NM_001425218.1",
"protein_id": "NP_001412147.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 281,
"cds_start": 457,
"cds_end": null,
"cds_length": 846,
"cdna_start": 1161,
"cdna_end": null,
"cdna_length": 5254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L2HGDH",
"gene_hgnc_id": 20499,
"hgvs_c": "c.892C>A",
"hgvs_p": "p.Arg298Arg",
"transcript": "XM_017021655.3",
"protein_id": "XP_016877144.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 426,
"cds_start": 892,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 1528,
"cdna_end": null,
"cdna_length": 6541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L2HGDH",
"gene_hgnc_id": 20499,
"hgvs_c": "c.868C>A",
"hgvs_p": "p.Arg290Arg",
"transcript": "XM_011537167.4",
"protein_id": "XP_011535469.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 418,
"cds_start": 868,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1468,
"cdna_end": null,
"cdna_length": 6481,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L2HGDH",
"gene_hgnc_id": 20499,
"hgvs_c": "c.457C>A",
"hgvs_p": "p.Arg153Arg",
"transcript": "XM_011537168.4",
"protein_id": "XP_011535470.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 281,
"cds_start": 457,
"cds_end": null,
"cds_length": 846,
"cdna_start": 553,
"cdna_end": null,
"cdna_length": 5566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "L2HGDH",
"gene_hgnc_id": 20499,
"dbsnp": "rs387907013",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.3499999940395355,
"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": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.917,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000267436.9",
"gene_symbol": "L2HGDH",
"hgnc_id": 20499,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1003C>A",
"hgvs_p": "p.Arg335Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}