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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: 15-42958014-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=42958014&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 42958014,
"ref": "T",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_174916.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR1",
"gene_hgnc_id": 16808,
"hgvs_c": "c.4834A>G",
"hgvs_p": "p.Arg1612Gly",
"transcript": "NM_174916.3",
"protein_id": "NP_777576.1",
"transcript_support_level": null,
"aa_start": 1612,
"aa_end": null,
"aa_length": 1749,
"cds_start": 4834,
"cds_end": null,
"cds_length": 5250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000290650.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_174916.3"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR1",
"gene_hgnc_id": 16808,
"hgvs_c": "c.4834A>G",
"hgvs_p": "p.Arg1612Gly",
"transcript": "ENST00000290650.9",
"protein_id": "ENSP00000290650.4",
"transcript_support_level": 1,
"aa_start": 1612,
"aa_end": null,
"aa_length": 1749,
"cds_start": 4834,
"cds_end": null,
"cds_length": 5250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_174916.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000290650.9"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR1",
"gene_hgnc_id": 16808,
"hgvs_c": "c.4906A>G",
"hgvs_p": "p.Arg1636Gly",
"transcript": "ENST00000914218.1",
"protein_id": "ENSP00000584277.1",
"transcript_support_level": null,
"aa_start": 1636,
"aa_end": null,
"aa_length": 1773,
"cds_start": 4906,
"cds_end": null,
"cds_length": 5322,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914218.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR1",
"gene_hgnc_id": 16808,
"hgvs_c": "c.4810A>G",
"hgvs_p": "p.Arg1604Gly",
"transcript": "ENST00000914217.1",
"protein_id": "ENSP00000584276.1",
"transcript_support_level": null,
"aa_start": 1604,
"aa_end": null,
"aa_length": 1741,
"cds_start": 4810,
"cds_end": null,
"cds_length": 5226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914217.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR1",
"gene_hgnc_id": 16808,
"hgvs_c": "c.4705A>G",
"hgvs_p": "p.Arg1569Gly",
"transcript": "ENST00000914215.1",
"protein_id": "ENSP00000584274.1",
"transcript_support_level": null,
"aa_start": 1569,
"aa_end": null,
"aa_length": 1706,
"cds_start": 4705,
"cds_end": null,
"cds_length": 5121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914215.1"
},
{
"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": 44,
"intron_rank": 41,
"intron_rank_end": null,
"gene_symbol": "UBR1",
"gene_hgnc_id": 16808,
"hgvs_c": "c.4604+2631A>G",
"hgvs_p": null,
"transcript": "ENST00000914216.1",
"protein_id": "ENSP00000584275.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1672,
"cds_start": null,
"cds_end": null,
"cds_length": 5019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914216.1"
}
],
"gene_symbol": "UBR1",
"gene_hgnc_id": 16808,
"dbsnp": "rs78948790",
"frequency_reference_population": 0.0060313623,
"hom_count_reference_population": 36,
"allele_count_reference_population": 9721,
"gnomad_exomes_af": 0.00609832,
"gnomad_genomes_af": 0.00538983,
"gnomad_exomes_ac": 8900,
"gnomad_genomes_ac": 821,
"gnomad_exomes_homalt": 31,
"gnomad_genomes_homalt": 5,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.013510912656784058,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.5600000023841858,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.177,
"revel_prediction": "Benign",
"alphamissense_score": 0.2909,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.337,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.557635779389226,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_174916.3",
"gene_symbol": "UBR1",
"hgnc_id": 16808,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4834A>G",
"hgvs_p": "p.Arg1612Gly"
}
],
"clinvar_disease": "UBR1-related disorder,not provided,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3",
"phenotype_combined": "not specified|UBR1-related disorder|not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}