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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: 8-102300141-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=102300141&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 102300141,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000520539.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR5",
"gene_hgnc_id": 16806,
"hgvs_c": "c.2965C>T",
"hgvs_p": "p.Arg989Trp",
"transcript": "NM_015902.6",
"protein_id": "NP_056986.2",
"transcript_support_level": null,
"aa_start": 989,
"aa_end": null,
"aa_length": 2799,
"cds_start": 2965,
"cds_end": null,
"cds_length": 8400,
"cdna_start": 3431,
"cdna_end": null,
"cdna_length": 10895,
"mane_select": "ENST00000520539.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR5",
"gene_hgnc_id": 16806,
"hgvs_c": "c.2965C>T",
"hgvs_p": "p.Arg989Trp",
"transcript": "ENST00000520539.6",
"protein_id": "ENSP00000429084.1",
"transcript_support_level": 1,
"aa_start": 989,
"aa_end": null,
"aa_length": 2799,
"cds_start": 2965,
"cds_end": null,
"cds_length": 8400,
"cdna_start": 3431,
"cdna_end": null,
"cdna_length": 10895,
"mane_select": "NM_015902.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR5",
"gene_hgnc_id": 16806,
"hgvs_c": "c.2965C>T",
"hgvs_p": "p.Arg989Trp",
"transcript": "ENST00000220959.8",
"protein_id": "ENSP00000220959.4",
"transcript_support_level": 1,
"aa_start": 989,
"aa_end": null,
"aa_length": 2798,
"cds_start": 2965,
"cds_end": null,
"cds_length": 8397,
"cdna_start": 3420,
"cdna_end": null,
"cdna_length": 9418,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR5",
"gene_hgnc_id": 16806,
"hgvs_c": "c.-6C>T",
"hgvs_p": null,
"transcript": "XM_005250962.6",
"protein_id": "XP_005251019.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1811,
"cds_start": -4,
"cds_end": null,
"cds_length": 5436,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR5",
"gene_hgnc_id": 16806,
"hgvs_c": "c.2965C>T",
"hgvs_p": "p.Arg989Trp",
"transcript": "NM_001282873.2",
"protein_id": "NP_001269802.1",
"transcript_support_level": null,
"aa_start": 989,
"aa_end": null,
"aa_length": 2798,
"cds_start": 2965,
"cds_end": null,
"cds_length": 8397,
"cdna_start": 3431,
"cdna_end": null,
"cdna_length": 10892,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR5",
"gene_hgnc_id": 16806,
"hgvs_c": "c.2947C>T",
"hgvs_p": "p.Arg983Trp",
"transcript": "ENST00000521922.5",
"protein_id": "ENSP00000427819.1",
"transcript_support_level": 5,
"aa_start": 983,
"aa_end": null,
"aa_length": 2792,
"cds_start": 2947,
"cds_end": null,
"cds_length": 8379,
"cdna_start": 3472,
"cdna_end": null,
"cdna_length": 9008,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR5",
"gene_hgnc_id": 16806,
"hgvs_c": "c.310C>T",
"hgvs_p": "p.Arg104Trp",
"transcript": "ENST00000519365.1",
"protein_id": "ENSP00000428138.1",
"transcript_support_level": 3,
"aa_start": 104,
"aa_end": null,
"aa_length": 199,
"cds_start": 310,
"cds_end": null,
"cds_length": 601,
"cdna_start": 311,
"cdna_end": null,
"cdna_length": 602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR5",
"gene_hgnc_id": 16806,
"hgvs_c": "c.232C>T",
"hgvs_p": "p.Arg78Trp",
"transcript": "ENST00000520898.5",
"protein_id": "ENSP00000429127.1",
"transcript_support_level": 3,
"aa_start": 78,
"aa_end": null,
"aa_length": 192,
"cds_start": 232,
"cds_end": null,
"cds_length": 581,
"cdna_start": 233,
"cdna_end": null,
"cdna_length": 582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR5",
"gene_hgnc_id": 16806,
"hgvs_c": "c.2221C>T",
"hgvs_p": "p.Arg741Trp",
"transcript": "XM_024447178.2",
"protein_id": "XP_024302946.1",
"transcript_support_level": null,
"aa_start": 741,
"aa_end": null,
"aa_length": 2553,
"cds_start": 2221,
"cds_end": null,
"cds_length": 7662,
"cdna_start": 2903,
"cdna_end": null,
"cdna_length": 8742,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR5",
"gene_hgnc_id": 16806,
"hgvs_c": "c.2221C>T",
"hgvs_p": "p.Arg741Trp",
"transcript": "XM_047421847.1",
"protein_id": "XP_047277803.1",
"transcript_support_level": null,
"aa_start": 741,
"aa_end": null,
"aa_length": 2552,
"cds_start": 2221,
"cds_end": null,
"cds_length": 7659,
"cdna_start": 2903,
"cdna_end": null,
"cdna_length": 8739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR5",
"gene_hgnc_id": 16806,
"hgvs_c": "c.2203C>T",
"hgvs_p": "p.Arg735Trp",
"transcript": "XM_024447179.2",
"protein_id": "XP_024302947.1",
"transcript_support_level": null,
"aa_start": 735,
"aa_end": null,
"aa_length": 2547,
"cds_start": 2203,
"cds_end": null,
"cds_length": 7644,
"cdna_start": 2885,
"cdna_end": null,
"cdna_length": 8724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR5",
"gene_hgnc_id": 16806,
"hgvs_c": "c.2203C>T",
"hgvs_p": "p.Arg735Trp",
"transcript": "XM_047421848.1",
"protein_id": "XP_047277804.1",
"transcript_support_level": null,
"aa_start": 735,
"aa_end": null,
"aa_length": 2546,
"cds_start": 2203,
"cds_end": null,
"cds_length": 7641,
"cdna_start": 2885,
"cdna_end": null,
"cdna_length": 8721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR5",
"gene_hgnc_id": 16806,
"hgvs_c": "c.2203C>T",
"hgvs_p": "p.Arg735Trp",
"transcript": "XM_047421849.1",
"protein_id": "XP_047277805.1",
"transcript_support_level": null,
"aa_start": 735,
"aa_end": null,
"aa_length": 2545,
"cds_start": 2203,
"cds_end": null,
"cds_length": 7638,
"cdna_start": 2885,
"cdna_end": null,
"cdna_length": 9284,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR5",
"gene_hgnc_id": 16806,
"hgvs_c": "c.-6C>T",
"hgvs_p": null,
"transcript": "XM_005250962.6",
"protein_id": "XP_005251019.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1811,
"cds_start": -4,
"cds_end": null,
"cds_length": 5436,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "UBR5",
"gene_hgnc_id": 16806,
"dbsnp": "rs754562275",
"frequency_reference_population": 0.0000054859224,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000548592,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6804372668266296,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.279,
"revel_prediction": "Benign",
"alphamissense_score": 0.9535,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.377,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000520539.6",
"gene_symbol": "UBR5",
"hgnc_id": 16806,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2965C>T",
"hgvs_p": "p.Arg989Trp"
}
],
"clinvar_disease": "Long QT syndrome",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Long QT syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}