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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: 15-43054811-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=43054811&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 43054811,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_174916.3",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR1",
"gene_hgnc_id": 16808,
"hgvs_c": "c.1370A>G",
"hgvs_p": "p.Asn457Ser",
"transcript": "NM_174916.3",
"protein_id": "NP_777576.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 1749,
"cds_start": 1370,
"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": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR1",
"gene_hgnc_id": 16808,
"hgvs_c": "c.1370A>G",
"hgvs_p": "p.Asn457Ser",
"transcript": "ENST00000290650.9",
"protein_id": "ENSP00000290650.4",
"transcript_support_level": 1,
"aa_start": 457,
"aa_end": null,
"aa_length": 1749,
"cds_start": 1370,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR1",
"gene_hgnc_id": 16808,
"hgvs_c": "c.1442A>G",
"hgvs_p": "p.Asn481Ser",
"transcript": "ENST00000914218.1",
"protein_id": "ENSP00000584277.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 1773,
"cds_start": 1442,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR1",
"gene_hgnc_id": 16808,
"hgvs_c": "c.1370A>G",
"hgvs_p": "p.Asn457Ser",
"transcript": "ENST00000914217.1",
"protein_id": "ENSP00000584276.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 1741,
"cds_start": 1370,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR1",
"gene_hgnc_id": 16808,
"hgvs_c": "c.1370A>G",
"hgvs_p": "p.Asn457Ser",
"transcript": "ENST00000914215.1",
"protein_id": "ENSP00000584274.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 1706,
"cds_start": 1370,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR1",
"gene_hgnc_id": 16808,
"hgvs_c": "c.1370A>G",
"hgvs_p": "p.Asn457Ser",
"transcript": "ENST00000914216.1",
"protein_id": "ENSP00000584275.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 1672,
"cds_start": 1370,
"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"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBR1",
"gene_hgnc_id": 16808,
"hgvs_c": "c.1370A>G",
"hgvs_p": "p.Asn457Ser",
"transcript": "ENST00000546274.6",
"protein_id": "ENSP00000477932.1",
"transcript_support_level": 2,
"aa_start": 457,
"aa_end": null,
"aa_length": 1070,
"cds_start": 1370,
"cds_end": null,
"cds_length": 3213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000546274.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "UBR1",
"gene_hgnc_id": 16808,
"hgvs_c": "n.*203-7522A>G",
"hgvs_p": null,
"transcript": "ENST00000563239.1",
"protein_id": "ENSP00000456502.1",
"transcript_support_level": 3,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000563239.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "UBR1",
"gene_hgnc_id": 16808,
"hgvs_c": "n.*91+1533A>G",
"hgvs_p": null,
"transcript": "ENST00000569971.5",
"protein_id": "ENSP00000455759.1",
"transcript_support_level": 4,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000569971.5"
}
],
"gene_symbol": "UBR1",
"gene_hgnc_id": 16808,
"dbsnp": "rs1555448026",
"frequency_reference_population": 6.840759e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84076e-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": 0.13726851344108582,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.134,
"revel_prediction": "Benign",
"alphamissense_score": 0.0833,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.63,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.884,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_174916.3",
"gene_symbol": "UBR1",
"hgnc_id": 16808,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1370A>G",
"hgvs_p": "p.Asn457Ser"
}
],
"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
}