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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: 7-129839298-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=129839298&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 129839298,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000355621.8",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2H",
"gene_hgnc_id": 12484,
"hgvs_c": "c.336A>T",
"hgvs_p": "p.Leu112Phe",
"transcript": "NM_003344.4",
"protein_id": "NP_003335.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 183,
"cds_start": 336,
"cds_end": null,
"cds_length": 552,
"cdna_start": 741,
"cdna_end": null,
"cdna_length": 5162,
"mane_select": "ENST00000355621.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2H",
"gene_hgnc_id": 12484,
"hgvs_c": "c.336A>T",
"hgvs_p": "p.Leu112Phe",
"transcript": "ENST00000355621.8",
"protein_id": "ENSP00000347836.3",
"transcript_support_level": 1,
"aa_start": 112,
"aa_end": null,
"aa_length": 183,
"cds_start": 336,
"cds_end": null,
"cds_length": 552,
"cdna_start": 741,
"cdna_end": null,
"cdna_length": 5162,
"mane_select": "NM_003344.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2H",
"gene_hgnc_id": 12484,
"hgvs_c": "c.243A>T",
"hgvs_p": "p.Leu81Phe",
"transcript": "ENST00000473814.6",
"protein_id": "ENSP00000419097.2",
"transcript_support_level": 1,
"aa_start": 81,
"aa_end": null,
"aa_length": 152,
"cds_start": 243,
"cds_end": null,
"cds_length": 459,
"cdna_start": 319,
"cdna_end": null,
"cdna_length": 535,
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2H",
"gene_hgnc_id": 12484,
"hgvs_c": "n.444A>T",
"hgvs_p": null,
"transcript": "ENST00000483368.1",
"protein_id": null,
"transcript_support_level": 1,
"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": 619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2H",
"gene_hgnc_id": 12484,
"hgvs_c": "c.243A>T",
"hgvs_p": "p.Leu81Phe",
"transcript": "NM_182697.3",
"protein_id": "NP_874356.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 152,
"cds_start": 243,
"cds_end": null,
"cds_length": 459,
"cdna_start": 648,
"cdna_end": null,
"cdna_length": 5069,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2H",
"gene_hgnc_id": 12484,
"hgvs_c": "c.237A>T",
"hgvs_p": "p.Leu79Phe",
"transcript": "ENST00000496698.5",
"protein_id": "ENSP00000417681.1",
"transcript_support_level": 4,
"aa_start": 79,
"aa_end": null,
"aa_length": 148,
"cds_start": 237,
"cds_end": null,
"cds_length": 449,
"cdna_start": 349,
"cdna_end": null,
"cdna_length": 561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2H",
"gene_hgnc_id": 12484,
"hgvs_c": "c.126A>T",
"hgvs_p": "p.Leu42Phe",
"transcript": "NM_001202498.2",
"protein_id": "NP_001189427.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 113,
"cds_start": 126,
"cds_end": null,
"cds_length": 342,
"cdna_start": 362,
"cdna_end": null,
"cdna_length": 4783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2H",
"gene_hgnc_id": 12484,
"hgvs_c": "c.126A>T",
"hgvs_p": "p.Leu42Phe",
"transcript": "ENST00000649897.1",
"protein_id": "ENSP00000497987.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 113,
"cds_start": 126,
"cds_end": null,
"cds_length": 342,
"cdna_start": 394,
"cdna_end": null,
"cdna_length": 4803,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2H",
"gene_hgnc_id": 12484,
"hgvs_c": "c.126A>T",
"hgvs_p": "p.Leu42Phe",
"transcript": "XM_047420796.1",
"protein_id": "XP_047276752.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 113,
"cds_start": 126,
"cds_end": null,
"cds_length": 342,
"cdna_start": 1266,
"cdna_end": null,
"cdna_length": 5687,
"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": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2H",
"gene_hgnc_id": 12484,
"hgvs_c": "n.*174A>T",
"hgvs_p": null,
"transcript": "ENST00000480245.5",
"protein_id": "ENSP00000417709.1",
"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": 436,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2H",
"gene_hgnc_id": 12484,
"hgvs_c": "n.*174A>T",
"hgvs_p": null,
"transcript": "ENST00000480245.5",
"protein_id": "ENSP00000417709.1",
"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": 436,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "UBE2H",
"gene_hgnc_id": 12484,
"hgvs_c": "c.299-23A>T",
"hgvs_p": null,
"transcript": "ENST00000472396.5",
"protein_id": "ENSP00000419689.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 122,
"cds_start": -4,
"cds_end": null,
"cds_length": 370,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 758,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "UBE2H",
"gene_hgnc_id": 12484,
"dbsnp": "rs12539800",
"frequency_reference_population": 6.841396e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.8414e-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": 0.8953355550765991,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.591,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9846,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.26,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.739,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000355621.8",
"gene_symbol": "UBE2H",
"hgnc_id": 12484,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.336A>T",
"hgvs_p": "p.Leu112Phe"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}