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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: 14-31787845-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=31787845&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 31787845,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000281081.12",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBPL",
"gene_hgnc_id": 20278,
"hgvs_c": "c.579A>C",
"hgvs_p": "p.Leu193Phe",
"transcript": "NM_025152.3",
"protein_id": "NP_079428.2",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 319,
"cds_start": 579,
"cds_end": null,
"cds_length": 960,
"cdna_start": 615,
"cdna_end": null,
"cdna_length": 3040,
"mane_select": "ENST00000281081.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBPL",
"gene_hgnc_id": 20278,
"hgvs_c": "c.579A>C",
"hgvs_p": "p.Leu193Phe",
"transcript": "ENST00000281081.12",
"protein_id": "ENSP00000281081.7",
"transcript_support_level": 1,
"aa_start": 193,
"aa_end": null,
"aa_length": 319,
"cds_start": 579,
"cds_end": null,
"cds_length": 960,
"cdna_start": 615,
"cdna_end": null,
"cdna_length": 3040,
"mane_select": "NM_025152.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBPL",
"gene_hgnc_id": 20278,
"hgvs_c": "c.291A>C",
"hgvs_p": "p.Leu97Phe",
"transcript": "NM_001201573.2",
"protein_id": "NP_001188502.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 223,
"cds_start": 291,
"cds_end": null,
"cds_length": 672,
"cdna_start": 398,
"cdna_end": null,
"cdna_length": 2823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBPL",
"gene_hgnc_id": 20278,
"hgvs_c": "c.30A>C",
"hgvs_p": "p.Leu10Phe",
"transcript": "NM_001201574.2",
"protein_id": "NP_001188503.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 136,
"cds_start": 30,
"cds_end": null,
"cds_length": 411,
"cdna_start": 301,
"cdna_end": null,
"cdna_length": 2726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBPL",
"gene_hgnc_id": 20278,
"hgvs_c": "c.264A>C",
"hgvs_p": "p.Leu88Phe",
"transcript": "XM_011537181.3",
"protein_id": "XP_011535483.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 214,
"cds_start": 264,
"cds_end": null,
"cds_length": 645,
"cdna_start": 358,
"cdna_end": null,
"cdna_length": 2783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBPL",
"gene_hgnc_id": 20278,
"hgvs_c": "c.189A>C",
"hgvs_p": "p.Leu63Phe",
"transcript": "XM_047431786.1",
"protein_id": "XP_047287742.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 189,
"cds_start": 189,
"cds_end": null,
"cds_length": 570,
"cdna_start": 311,
"cdna_end": null,
"cdna_length": 2736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBPL",
"gene_hgnc_id": 20278,
"hgvs_c": "c.156A>C",
"hgvs_p": "p.Leu52Phe",
"transcript": "XM_047431787.1",
"protein_id": "XP_047287743.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 178,
"cds_start": 156,
"cds_end": null,
"cds_length": 537,
"cdna_start": 277,
"cdna_end": null,
"cdna_length": 2702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBPL",
"gene_hgnc_id": 20278,
"hgvs_c": "c.30A>C",
"hgvs_p": "p.Leu10Phe",
"transcript": "XM_011537184.4",
"protein_id": "XP_011535486.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 136,
"cds_start": 30,
"cds_end": null,
"cds_length": 411,
"cdna_start": 4008,
"cdna_end": null,
"cdna_length": 6433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBPL",
"gene_hgnc_id": 20278,
"hgvs_c": "n.301A>C",
"hgvs_p": null,
"transcript": "ENST00000418681.6",
"protein_id": null,
"transcript_support_level": 2,
"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": 1804,
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NUBPL",
"gene_hgnc_id": 20278,
"hgvs_c": "c.292-58626A>C",
"hgvs_p": null,
"transcript": "ENST00000550649.5",
"protein_id": "ENSP00000447618.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 166,
"cds_start": -4,
"cds_end": null,
"cds_length": 502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "NUBPL",
"gene_hgnc_id": 20278,
"hgvs_c": "n.514-38784A>C",
"hgvs_p": null,
"transcript": "ENST00000547839.5",
"protein_id": "ENSP00000449918.1",
"transcript_support_level": 2,
"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": 2001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "NUBPL",
"gene_hgnc_id": 20278,
"hgvs_c": "n.550-38784A>C",
"hgvs_p": null,
"transcript": "NR_120408.2",
"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": 2946,
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "NUBPL",
"gene_hgnc_id": 20278,
"hgvs_c": "c.514-38784A>C",
"hgvs_p": null,
"transcript": "XM_047431788.1",
"protein_id": "XP_047287744.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 173,
"cds_start": -4,
"cds_end": null,
"cds_length": 522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBPL",
"gene_hgnc_id": 20278,
"hgvs_c": "c.*23A>C",
"hgvs_p": null,
"transcript": "ENST00000551314.1",
"protein_id": "ENSP00000447234.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 132,
"cds_start": -4,
"cds_end": null,
"cds_length": 400,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 567,
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBPL",
"gene_hgnc_id": 20278,
"hgvs_c": "n.*215A>C",
"hgvs_p": null,
"transcript": "ENST00000549838.5",
"protein_id": "ENSP00000447658.1",
"transcript_support_level": 5,
"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": 556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NUBPL",
"gene_hgnc_id": 20278,
"dbsnp": "rs552722349",
"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": 0.9471794366836548,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.548,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8012,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.11,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 0.88,
"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": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong,PP5",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM2",
"PP3_Strong",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000281081.12",
"gene_symbol": "NUBPL",
"hgnc_id": 20278,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.579A>C",
"hgvs_p": "p.Leu193Phe"
}
],
"clinvar_disease": " nuclear type 21,Mitochondrial complex I deficiency",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Mitochondrial complex I deficiency, nuclear type 21",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}