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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: 14-50283990-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=50283990&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 50283990,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000267436.9",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L2HGDH",
"gene_hgnc_id": 20499,
"hgvs_c": "c.584A>G",
"hgvs_p": "p.Tyr195Cys",
"transcript": "NM_024884.3",
"protein_id": "NP_079160.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 463,
"cds_start": 584,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 663,
"cdna_end": null,
"cdna_length": 6095,
"mane_select": "ENST00000267436.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L2HGDH",
"gene_hgnc_id": 20499,
"hgvs_c": "c.584A>G",
"hgvs_p": "p.Tyr195Cys",
"transcript": "ENST00000267436.9",
"protein_id": "ENSP00000267436.4",
"transcript_support_level": 1,
"aa_start": 195,
"aa_end": null,
"aa_length": 463,
"cds_start": 584,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 663,
"cdna_end": null,
"cdna_length": 6095,
"mane_select": "NM_024884.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L2HGDH",
"gene_hgnc_id": 20499,
"hgvs_c": "c.584A>G",
"hgvs_p": "p.Tyr195Cys",
"transcript": "ENST00000261699.8",
"protein_id": "ENSP00000261699.4",
"transcript_support_level": 1,
"aa_start": 195,
"aa_end": null,
"aa_length": 441,
"cds_start": 584,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 602,
"cdna_end": null,
"cdna_length": 1377,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L2HGDH",
"gene_hgnc_id": 20499,
"hgvs_c": "c.584A>G",
"hgvs_p": "p.Tyr195Cys",
"transcript": "ENST00000555423.5",
"protein_id": "ENSP00000450494.1",
"transcript_support_level": 1,
"aa_start": 195,
"aa_end": null,
"aa_length": 236,
"cds_start": 584,
"cds_end": null,
"cds_length": 711,
"cdna_start": 660,
"cdna_end": null,
"cdna_length": 841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.584A>G",
"hgvs_p": "p.Tyr195Cys",
"transcript": "NM_001425212.1",
"protein_id": "NP_001412141.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 463,
"cds_start": 584,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 663,
"cdna_end": null,
"cdna_length": 5175,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.584A>G",
"hgvs_p": "p.Tyr195Cys",
"transcript": "ENST00000421284.7",
"protein_id": "ENSP00000405559.3",
"transcript_support_level": 2,
"aa_start": 195,
"aa_end": null,
"aa_length": 463,
"cds_start": 584,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 663,
"cdna_end": null,
"cdna_length": 1958,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L2HGDH",
"gene_hgnc_id": 20499,
"hgvs_c": "c.473A>G",
"hgvs_p": "p.Tyr158Cys",
"transcript": "NM_001425213.1",
"protein_id": "NP_001412142.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 426,
"cds_start": 473,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 806,
"cdna_end": null,
"cdna_length": 5318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L2HGDH",
"gene_hgnc_id": 20499,
"hgvs_c": "c.473A>G",
"hgvs_p": "p.Tyr158Cys",
"transcript": "NM_001425214.1",
"protein_id": "NP_001412143.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 426,
"cds_start": 473,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 806,
"cdna_end": null,
"cdna_length": 6238,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L2HGDH",
"gene_hgnc_id": 20499,
"hgvs_c": "c.38A>G",
"hgvs_p": "p.Tyr13Cys",
"transcript": "NM_001425215.1",
"protein_id": "NP_001412144.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 281,
"cds_start": 38,
"cds_end": null,
"cds_length": 846,
"cdna_start": 885,
"cdna_end": null,
"cdna_length": 6317,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L2HGDH",
"gene_hgnc_id": 20499,
"hgvs_c": "c.38A>G",
"hgvs_p": "p.Tyr13Cys",
"transcript": "NM_001425216.1",
"protein_id": "NP_001412145.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 281,
"cds_start": 38,
"cds_end": null,
"cds_length": 846,
"cdna_start": 727,
"cdna_end": null,
"cdna_length": 5239,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L2HGDH",
"gene_hgnc_id": 20499,
"hgvs_c": "c.38A>G",
"hgvs_p": "p.Tyr13Cys",
"transcript": "NM_001425217.1",
"protein_id": "NP_001412146.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 281,
"cds_start": 38,
"cds_end": null,
"cds_length": 846,
"cdna_start": 820,
"cdna_end": null,
"cdna_length": 5332,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L2HGDH",
"gene_hgnc_id": 20499,
"hgvs_c": "c.38A>G",
"hgvs_p": "p.Tyr13Cys",
"transcript": "NM_001425218.1",
"protein_id": "NP_001412147.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 281,
"cds_start": 38,
"cds_end": null,
"cds_length": 846,
"cdna_start": 742,
"cdna_end": null,
"cdna_length": 5254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L2HGDH",
"gene_hgnc_id": 20499,
"hgvs_c": "c.473A>G",
"hgvs_p": "p.Tyr158Cys",
"transcript": "XM_017021655.3",
"protein_id": "XP_016877144.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 426,
"cds_start": 473,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 1109,
"cdna_end": null,
"cdna_length": 6541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L2HGDH",
"gene_hgnc_id": 20499,
"hgvs_c": "c.449A>G",
"hgvs_p": "p.Tyr150Cys",
"transcript": "XM_011537167.4",
"protein_id": "XP_011535469.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 418,
"cds_start": 449,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1049,
"cdna_end": null,
"cdna_length": 6481,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L2HGDH",
"gene_hgnc_id": 20499,
"hgvs_c": "c.38A>G",
"hgvs_p": "p.Tyr13Cys",
"transcript": "XM_011537168.4",
"protein_id": "XP_011535470.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 281,
"cds_start": 38,
"cds_end": null,
"cds_length": 846,
"cdna_start": 134,
"cdna_end": null,
"cdna_length": 5566,
"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": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L2HGDH",
"gene_hgnc_id": 20499,
"hgvs_c": "n.663A>G",
"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": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L2HGDH",
"gene_hgnc_id": 20499,
"hgvs_c": "n.663A>G",
"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": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "L2HGDH",
"gene_hgnc_id": 20499,
"hgvs_c": "c.*27A>G",
"hgvs_p": null,
"transcript": "ENST00000555610.1",
"protein_id": "ENSP00000452483.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 211,
"cds_start": -4,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "L2HGDH",
"gene_hgnc_id": 20499,
"dbsnp": "rs887386390",
"frequency_reference_population": 0.000008892915,
"hom_count_reference_population": 0,
"allele_count_reference_population": 13,
"gnomad_exomes_af": 0.00000889291,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 13,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9524868726730347,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.898,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.711,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.36,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.314,
"phylop100way_prediction": "Uncertain_significance",
"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": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong,PP5_Moderate",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000267436.9",
"gene_symbol": "L2HGDH",
"hgnc_id": 20499,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.584A>G",
"hgvs_p": "p.Tyr195Cys"
}
],
"clinvar_disease": "L-2-hydroxyglutaric aciduria",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "L-2-hydroxyglutaric aciduria",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}