← Back to variant description
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: 14-31599346-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=31599346&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 31599346,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000281081.12",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBPL",
"gene_hgnc_id": 20278,
"hgvs_c": "c.349A>G",
"hgvs_p": "p.Met117Val",
"transcript": "NM_025152.3",
"protein_id": "NP_079428.2",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 319,
"cds_start": 349,
"cds_end": null,
"cds_length": 960,
"cdna_start": 385,
"cdna_end": null,
"cdna_length": 3040,
"mane_select": "ENST00000281081.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBPL",
"gene_hgnc_id": 20278,
"hgvs_c": "c.349A>G",
"hgvs_p": "p.Met117Val",
"transcript": "ENST00000281081.12",
"protein_id": "ENSP00000281081.7",
"transcript_support_level": 1,
"aa_start": 117,
"aa_end": null,
"aa_length": 319,
"cds_start": 349,
"cds_end": null,
"cds_length": 960,
"cdna_start": 385,
"cdna_end": null,
"cdna_length": 3040,
"mane_select": "NM_025152.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBPL",
"gene_hgnc_id": 20278,
"hgvs_c": "c.61A>G",
"hgvs_p": "p.Met21Val",
"transcript": "NM_001201573.2",
"protein_id": "NP_001188502.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 223,
"cds_start": 61,
"cds_end": null,
"cds_length": 672,
"cdna_start": 168,
"cdna_end": null,
"cdna_length": 2823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBPL",
"gene_hgnc_id": 20278,
"hgvs_c": "c.193A>G",
"hgvs_p": "p.Met65Val",
"transcript": "ENST00000551314.1",
"protein_id": "ENSP00000447234.1",
"transcript_support_level": 4,
"aa_start": 65,
"aa_end": null,
"aa_length": 132,
"cds_start": 193,
"cds_end": null,
"cds_length": 400,
"cdna_start": 360,
"cdna_end": null,
"cdna_length": 567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBPL",
"gene_hgnc_id": 20278,
"hgvs_c": "c.74A>G",
"hgvs_p": "p.Asp25Gly",
"transcript": "XM_011537181.3",
"protein_id": "XP_011535483.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 214,
"cds_start": 74,
"cds_end": null,
"cds_length": 645,
"cdna_start": 168,
"cdna_end": null,
"cdna_length": 2783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBPL",
"gene_hgnc_id": 20278,
"hgvs_c": "c.349A>G",
"hgvs_p": "p.Met117Val",
"transcript": "XM_017021664.2",
"protein_id": "XP_016877153.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 197,
"cds_start": 349,
"cds_end": null,
"cds_length": 594,
"cdna_start": 385,
"cdna_end": null,
"cdna_length": 13340,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBPL",
"gene_hgnc_id": 20278,
"hgvs_c": "c.349A>G",
"hgvs_p": "p.Met117Val",
"transcript": "XM_017021665.3",
"protein_id": "XP_016877154.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 185,
"cds_start": 349,
"cds_end": null,
"cds_length": 558,
"cdna_start": 385,
"cdna_end": null,
"cdna_length": 4569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"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.349A>G",
"hgvs_p": "p.Met117Val",
"transcript": "XM_011537183.3",
"protein_id": "XP_011535485.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 181,
"cds_start": 349,
"cds_end": null,
"cds_length": 546,
"cdna_start": 385,
"cdna_end": null,
"cdna_length": 2314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBPL",
"gene_hgnc_id": 20278,
"hgvs_c": "c.349A>G",
"hgvs_p": "p.Met117Val",
"transcript": "XM_017021666.2",
"protein_id": "XP_016877155.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 181,
"cds_start": 349,
"cds_end": null,
"cds_length": 546,
"cdna_start": 385,
"cdna_end": null,
"cdna_length": 2260,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBPL",
"gene_hgnc_id": 20278,
"hgvs_c": "c.349A>G",
"hgvs_p": "p.Met117Val",
"transcript": "XM_047431788.1",
"protein_id": "XP_047287744.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 173,
"cds_start": 349,
"cds_end": null,
"cds_length": 522,
"cdna_start": 385,
"cdna_end": null,
"cdna_length": 725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBPL",
"gene_hgnc_id": 20278,
"hgvs_c": "c.349A>G",
"hgvs_p": "p.Met117Val",
"transcript": "XM_047431789.1",
"protein_id": "XP_047287745.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 165,
"cds_start": 349,
"cds_end": null,
"cds_length": 498,
"cdna_start": 385,
"cdna_end": null,
"cdna_length": 869,
"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": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBPL",
"gene_hgnc_id": 20278,
"hgvs_c": "n.349A>G",
"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBPL",
"gene_hgnc_id": 20278,
"hgvs_c": "n.353A>G",
"hgvs_p": null,
"transcript": "ENST00000548937.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 578,
"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": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBPL",
"gene_hgnc_id": 20278,
"hgvs_c": "n.313A>G",
"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
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "NUBPL",
"gene_hgnc_id": 20278,
"hgvs_c": "n.298A>G",
"hgvs_p": null,
"transcript": "ENST00000550355.1",
"protein_id": null,
"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": 596,
"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": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBPL",
"gene_hgnc_id": 20278,
"hgvs_c": "n.*131A>G",
"hgvs_p": null,
"transcript": "ENST00000552489.5",
"protein_id": "ENSP00000447316.1",
"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": 541,
"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": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBPL",
"gene_hgnc_id": 20278,
"hgvs_c": "n.385A>G",
"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": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBPL",
"gene_hgnc_id": 20278,
"hgvs_c": "n.385A>G",
"hgvs_p": null,
"transcript": "XR_007064050.1",
"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": 1450,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBPL",
"gene_hgnc_id": 20278,
"hgvs_c": "c.-107A>G",
"hgvs_p": null,
"transcript": "XM_047431786.1",
"protein_id": "XP_047287742.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 189,
"cds_start": -4,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBPL",
"gene_hgnc_id": 20278,
"hgvs_c": "c.-35A>G",
"hgvs_p": null,
"transcript": "XM_047431787.1",
"protein_id": "XP_047287743.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 178,
"cds_start": -4,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUBPL",
"gene_hgnc_id": 20278,
"hgvs_c": "n.*131A>G",
"hgvs_p": null,
"transcript": "ENST00000552489.5",
"protein_id": "ENSP00000447316.1",
"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": 541,
"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.291+34298A>G",
"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
}
],
"gene_symbol": "NUBPL",
"gene_hgnc_id": 20278,
"dbsnp": "rs773620793",
"frequency_reference_population": 6.8469325e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84693e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7723692655563354,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.542,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4058,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.459,
"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": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM5,PP3",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PM5",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000281081.12",
"gene_symbol": "NUBPL",
"hgnc_id": 20278,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.349A>G",
"hgvs_p": "p.Met117Val"
}
],
"clinvar_disease": "Mitochondrial complex I deficiency",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Mitochondrial complex I deficiency",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}