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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: 1-182385848-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=182385848&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 182385848,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000331872.11",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLUL",
"gene_hgnc_id": 4341,
"hgvs_c": "c.515G>C",
"hgvs_p": "p.Gly172Ala",
"transcript": "NM_001033044.4",
"protein_id": "NP_001028216.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 373,
"cds_start": 515,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 640,
"cdna_end": null,
"cdna_length": 7554,
"mane_select": "ENST00000331872.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLUL",
"gene_hgnc_id": 4341,
"hgvs_c": "c.515G>C",
"hgvs_p": "p.Gly172Ala",
"transcript": "ENST00000331872.11",
"protein_id": "ENSP00000356537.6",
"transcript_support_level": 1,
"aa_start": 172,
"aa_end": null,
"aa_length": 373,
"cds_start": 515,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 640,
"cdna_end": null,
"cdna_length": 7554,
"mane_select": "NM_001033044.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLUL",
"gene_hgnc_id": 4341,
"hgvs_c": "c.917G>C",
"hgvs_p": "p.Gly306Ala",
"transcript": "ENST00000339526.9",
"protein_id": "ENSP00000344958.5",
"transcript_support_level": 1,
"aa_start": 306,
"aa_end": null,
"aa_length": 507,
"cds_start": 917,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 1129,
"cdna_end": null,
"cdna_length": 3247,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLUL",
"gene_hgnc_id": 4341,
"hgvs_c": "c.515G>C",
"hgvs_p": "p.Gly172Ala",
"transcript": "ENST00000311223.9",
"protein_id": "ENSP00000307900.5",
"transcript_support_level": 1,
"aa_start": 172,
"aa_end": null,
"aa_length": 373,
"cds_start": 515,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 1412,
"cdna_end": null,
"cdna_length": 4719,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLUL",
"gene_hgnc_id": 4341,
"hgvs_c": "n.3178G>C",
"hgvs_p": null,
"transcript": "ENST00000491322.1",
"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": 6132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLUL",
"gene_hgnc_id": 4341,
"hgvs_c": "c.917G>C",
"hgvs_p": "p.Gly306Ala",
"transcript": "ENST00000642379.1",
"protein_id": "ENSP00000494022.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 507,
"cds_start": 917,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 1056,
"cdna_end": null,
"cdna_length": 4364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLUL",
"gene_hgnc_id": 4341,
"hgvs_c": "c.515G>C",
"hgvs_p": "p.Gly172Ala",
"transcript": "NM_001033056.4",
"protein_id": "NP_001028228.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 373,
"cds_start": 515,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 695,
"cdna_end": null,
"cdna_length": 7609,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLUL",
"gene_hgnc_id": 4341,
"hgvs_c": "c.515G>C",
"hgvs_p": "p.Gly172Ala",
"transcript": "NM_002065.7",
"protein_id": "NP_002056.2",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 373,
"cds_start": 515,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 996,
"cdna_end": null,
"cdna_length": 7910,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLUL",
"gene_hgnc_id": 4341,
"hgvs_c": "c.515G>C",
"hgvs_p": "p.Gly172Ala",
"transcript": "ENST00000417584.6",
"protein_id": "ENSP00000398320.2",
"transcript_support_level": 5,
"aa_start": 172,
"aa_end": null,
"aa_length": 373,
"cds_start": 515,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 758,
"cdna_end": null,
"cdna_length": 4065,
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLUL",
"gene_hgnc_id": 4341,
"hgvs_c": "n.92G>C",
"hgvs_p": null,
"transcript": "ENST00000461447.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 689,
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLUL",
"gene_hgnc_id": 4341,
"hgvs_c": "n.534G>C",
"hgvs_p": null,
"transcript": "ENST00000489818.5",
"protein_id": null,
"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": 683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GLUL",
"gene_hgnc_id": 4341,
"hgvs_c": "n.129-6G>C",
"hgvs_p": null,
"transcript": "ENST00000463851.6",
"protein_id": null,
"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": 939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GLUL",
"gene_hgnc_id": 4341,
"dbsnp": "rs1057520087",
"frequency_reference_population": 6.842857e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84286e-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": 0.9059683084487915,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.863,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.597,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.29,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.537,
"phylop100way_prediction": "Pathogenic",
"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": "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": "ENST00000331872.11",
"gene_symbol": "GLUL",
"hgnc_id": 4341,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.515G>C",
"hgvs_p": "p.Gly172Ala"
}
],
"clinvar_disease": "Inborn genetic diseases,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}