← 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: 8-58447486-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=58447486&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 58447486,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001077619.2",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBXN2B",
"gene_hgnc_id": 27035,
"hgvs_c": "c.931G>C",
"hgvs_p": "p.Asp311His",
"transcript": "NM_001077619.2",
"protein_id": "NP_001071087.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 331,
"cds_start": 931,
"cds_end": null,
"cds_length": 996,
"cdna_start": 956,
"cdna_end": null,
"cdna_length": 4971,
"mane_select": "ENST00000399598.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001077619.2"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBXN2B",
"gene_hgnc_id": 27035,
"hgvs_c": "c.931G>C",
"hgvs_p": "p.Asp311His",
"transcript": "ENST00000399598.7",
"protein_id": "ENSP00000382507.2",
"transcript_support_level": 1,
"aa_start": 311,
"aa_end": null,
"aa_length": 331,
"cds_start": 931,
"cds_end": null,
"cds_length": 996,
"cdna_start": 956,
"cdna_end": null,
"cdna_length": 4971,
"mane_select": "NM_001077619.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399598.7"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBXN2B",
"gene_hgnc_id": 27035,
"hgvs_c": "c.919G>C",
"hgvs_p": "p.Asp307His",
"transcript": "ENST00000970427.1",
"protein_id": "ENSP00000640486.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 327,
"cds_start": 919,
"cds_end": null,
"cds_length": 984,
"cdna_start": 936,
"cdna_end": null,
"cdna_length": 5614,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970427.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBXN2B",
"gene_hgnc_id": 27035,
"hgvs_c": "c.847G>C",
"hgvs_p": "p.Asp283His",
"transcript": "ENST00000879981.1",
"protein_id": "ENSP00000550040.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 303,
"cds_start": 847,
"cds_end": null,
"cds_length": 912,
"cdna_start": 865,
"cdna_end": null,
"cdna_length": 4878,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879981.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBXN2B",
"gene_hgnc_id": 27035,
"hgvs_c": "c.793G>C",
"hgvs_p": "p.Asp265His",
"transcript": "NM_001363181.1",
"protein_id": "NP_001350110.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 285,
"cds_start": 793,
"cds_end": null,
"cds_length": 858,
"cdna_start": 818,
"cdna_end": null,
"cdna_length": 4833,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363181.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBXN2B",
"gene_hgnc_id": 27035,
"hgvs_c": "c.793G>C",
"hgvs_p": "p.Asp265His",
"transcript": "ENST00000879980.1",
"protein_id": "ENSP00000550039.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 285,
"cds_start": 793,
"cds_end": null,
"cds_length": 858,
"cdna_start": 830,
"cdna_end": null,
"cdna_length": 4845,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879980.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBXN2B",
"gene_hgnc_id": 27035,
"hgvs_c": "c.781G>C",
"hgvs_p": "p.Asp261His",
"transcript": "ENST00000970428.1",
"protein_id": "ENSP00000640487.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 281,
"cds_start": 781,
"cds_end": null,
"cds_length": 846,
"cdna_start": 799,
"cdna_end": null,
"cdna_length": 4813,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970428.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBXN2B",
"gene_hgnc_id": 27035,
"hgvs_c": "c.769G>C",
"hgvs_p": "p.Asp257His",
"transcript": "ENST00000920602.1",
"protein_id": "ENSP00000590661.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 277,
"cds_start": 769,
"cds_end": null,
"cds_length": 834,
"cdna_start": 786,
"cdna_end": null,
"cdna_length": 4797,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920602.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBXN2B",
"gene_hgnc_id": 27035,
"hgvs_c": "c.592G>C",
"hgvs_p": "p.Asp198His",
"transcript": "ENST00000920603.1",
"protein_id": "ENSP00000590662.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 218,
"cds_start": 592,
"cds_end": null,
"cds_length": 657,
"cdna_start": 610,
"cdna_end": null,
"cdna_length": 782,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920603.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBXN2B",
"gene_hgnc_id": 27035,
"hgvs_c": "c.586G>C",
"hgvs_p": "p.Asp196His",
"transcript": "ENST00000920601.1",
"protein_id": "ENSP00000590660.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 216,
"cds_start": 586,
"cds_end": null,
"cds_length": 651,
"cdna_start": 623,
"cdna_end": null,
"cdna_length": 4638,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920601.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBXN2B",
"gene_hgnc_id": 27035,
"hgvs_c": "c.286G>C",
"hgvs_p": "p.Asp96His",
"transcript": "ENST00000920600.1",
"protein_id": "ENSP00000590659.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 116,
"cds_start": 286,
"cds_end": null,
"cds_length": 351,
"cdna_start": 307,
"cdna_end": null,
"cdna_length": 4540,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920600.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBXN2B",
"gene_hgnc_id": 27035,
"hgvs_c": "n.*431G>C",
"hgvs_p": null,
"transcript": "ENST00000523409.5",
"protein_id": "ENSP00000428314.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1225,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000523409.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBXN2B",
"gene_hgnc_id": 27035,
"hgvs_c": "n.1047G>C",
"hgvs_p": null,
"transcript": "NR_156456.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5062,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_156456.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBXN2B",
"gene_hgnc_id": 27035,
"hgvs_c": "n.*431G>C",
"hgvs_p": null,
"transcript": "ENST00000523409.5",
"protein_id": "ENSP00000428314.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1225,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000523409.5"
}
],
"gene_symbol": "UBXN2B",
"gene_hgnc_id": 27035,
"dbsnp": "rs755047392",
"frequency_reference_population": 6.843952e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84395e-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": 0.8247647881507874,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.487,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4108,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.23,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.898,
"phylop100way_prediction": "Pathogenic",
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001077619.2",
"gene_symbol": "UBXN2B",
"hgnc_id": 27035,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.931G>C",
"hgvs_p": "p.Asp311His"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}