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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: 19-55401618-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=55401618&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 55401618,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_014501.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2S",
"gene_hgnc_id": 17895,
"hgvs_c": "c.487G>A",
"hgvs_p": "p.Gly163Ser",
"transcript": "NM_014501.3",
"protein_id": "NP_055316.2",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 222,
"cds_start": 487,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000264552.14",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014501.3"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2S",
"gene_hgnc_id": 17895,
"hgvs_c": "c.487G>A",
"hgvs_p": "p.Gly163Ser",
"transcript": "ENST00000264552.14",
"protein_id": "ENSP00000264552.8",
"transcript_support_level": 1,
"aa_start": 163,
"aa_end": null,
"aa_length": 222,
"cds_start": 487,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014501.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264552.14"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2S",
"gene_hgnc_id": 17895,
"hgvs_c": "c.700G>A",
"hgvs_p": "p.Gly234Ser",
"transcript": "ENST00000917162.1",
"protein_id": "ENSP00000587221.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 293,
"cds_start": 700,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917162.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2S",
"gene_hgnc_id": 17895,
"hgvs_c": "c.574G>A",
"hgvs_p": "p.Gly192Ser",
"transcript": "ENST00000587845.5",
"protein_id": "ENSP00000467409.1",
"transcript_support_level": 2,
"aa_start": 192,
"aa_end": null,
"aa_length": 203,
"cds_start": 574,
"cds_end": null,
"cds_length": 613,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000587845.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RPL28",
"gene_hgnc_id": 10330,
"hgvs_c": "c.325-1325C>T",
"hgvs_p": null,
"transcript": "NM_001363697.1",
"protein_id": "NP_001350626.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 170,
"cds_start": null,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363697.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RPL28",
"gene_hgnc_id": 10330,
"hgvs_c": "c.325-1325C>T",
"hgvs_p": null,
"transcript": "ENST00000560055.5",
"protein_id": "ENSP00000452763.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 170,
"cds_start": null,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000560055.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2S",
"gene_hgnc_id": 17895,
"hgvs_c": "c.*170G>A",
"hgvs_p": null,
"transcript": "ENST00000589978.1",
"protein_id": "ENSP00000466388.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 79,
"cds_start": null,
"cds_end": null,
"cds_length": 240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589978.1"
}
],
"gene_symbol": "UBE2S",
"gene_hgnc_id": 17895,
"dbsnp": "rs750061593",
"frequency_reference_population": 0.000035505345,
"hom_count_reference_population": 0,
"allele_count_reference_population": 57,
"gnomad_exomes_af": 0.0000357825,
"gnomad_genomes_af": 0.0000328584,
"gnomad_exomes_ac": 52,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.029876351356506348,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.077,
"revel_prediction": "Benign",
"alphamissense_score": 0.0855,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.488,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_014501.3",
"gene_symbol": "UBE2S",
"hgnc_id": 17895,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.487G>A",
"hgvs_p": "p.Gly163Ser"
},
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001363697.1",
"gene_symbol": "RPL28",
"hgnc_id": 10330,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.325-1325C>T",
"hgvs_p": null
}
],
"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
}