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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: 2-128115142-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=128115142&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 128115142,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_020120.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGGT1",
"gene_hgnc_id": 15663,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Val239Ile",
"transcript": "NM_020120.4",
"protein_id": "NP_064505.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 1555,
"cds_start": 715,
"cds_end": null,
"cds_length": 4668,
"cdna_start": 873,
"cdna_end": null,
"cdna_length": 10761,
"mane_select": "ENST00000259253.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGGT1",
"gene_hgnc_id": 15663,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Val239Ile",
"transcript": "ENST00000259253.11",
"protein_id": "ENSP00000259253.6",
"transcript_support_level": 1,
"aa_start": 239,
"aa_end": null,
"aa_length": 1555,
"cds_start": 715,
"cds_end": null,
"cds_length": 4668,
"cdna_start": 873,
"cdna_end": null,
"cdna_length": 10761,
"mane_select": "NM_020120.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGGT1",
"gene_hgnc_id": 15663,
"hgvs_c": "n.*755G>A",
"hgvs_p": null,
"transcript": "ENST00000376723.7",
"protein_id": "ENSP00000365913.3",
"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": 6682,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGGT1",
"gene_hgnc_id": 15663,
"hgvs_c": "n.*303G>A",
"hgvs_p": null,
"transcript": "ENST00000438277.5",
"protein_id": "ENSP00000392701.1",
"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": 3113,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGGT1",
"gene_hgnc_id": 15663,
"hgvs_c": "n.*755G>A",
"hgvs_p": null,
"transcript": "ENST00000376723.7",
"protein_id": "ENSP00000365913.3",
"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": 6682,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGGT1",
"gene_hgnc_id": 15663,
"hgvs_c": "n.*303G>A",
"hgvs_p": null,
"transcript": "ENST00000438277.5",
"protein_id": "ENSP00000392701.1",
"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": 3113,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGGT1",
"gene_hgnc_id": 15663,
"hgvs_c": "c.697G>A",
"hgvs_p": "p.Val233Ile",
"transcript": "XM_006712634.4",
"protein_id": "XP_006712697.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 1549,
"cds_start": 697,
"cds_end": null,
"cds_length": 4650,
"cdna_start": 855,
"cdna_end": null,
"cdna_length": 10743,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGGT1",
"gene_hgnc_id": 15663,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Val239Ile",
"transcript": "XM_006712635.5",
"protein_id": "XP_006712698.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 1547,
"cds_start": 715,
"cds_end": null,
"cds_length": 4644,
"cdna_start": 873,
"cdna_end": null,
"cdna_length": 10737,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGGT1",
"gene_hgnc_id": 15663,
"hgvs_c": "c.682G>A",
"hgvs_p": "p.Val228Ile",
"transcript": "XM_006712636.4",
"protein_id": "XP_006712699.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 1544,
"cds_start": 682,
"cds_end": null,
"cds_length": 4635,
"cdna_start": 840,
"cdna_end": null,
"cdna_length": 10728,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGGT1",
"gene_hgnc_id": 15663,
"hgvs_c": "c.697G>A",
"hgvs_p": "p.Val233Ile",
"transcript": "XM_047445121.1",
"protein_id": "XP_047301077.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 1541,
"cds_start": 697,
"cds_end": null,
"cds_length": 4626,
"cdna_start": 855,
"cdna_end": null,
"cdna_length": 10719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGGT1",
"gene_hgnc_id": 15663,
"hgvs_c": "c.682G>A",
"hgvs_p": "p.Val228Ile",
"transcript": "XM_047445122.1",
"protein_id": "XP_047301078.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 1536,
"cds_start": 682,
"cds_end": null,
"cds_length": 4611,
"cdna_start": 840,
"cdna_end": null,
"cdna_length": 10704,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGGT1",
"gene_hgnc_id": 15663,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Val239Ile",
"transcript": "XM_047445123.1",
"protein_id": "XP_047301079.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 1420,
"cds_start": 715,
"cds_end": null,
"cds_length": 4263,
"cdna_start": 873,
"cdna_end": null,
"cdna_length": 4517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGGT1",
"gene_hgnc_id": 15663,
"hgvs_c": "c.682G>A",
"hgvs_p": "p.Val228Ile",
"transcript": "XM_047445124.1",
"protein_id": "XP_047301080.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 1409,
"cds_start": 682,
"cds_end": null,
"cds_length": 4230,
"cdna_start": 840,
"cdna_end": null,
"cdna_length": 4484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGGT1",
"gene_hgnc_id": 15663,
"hgvs_c": "n.1054G>A",
"hgvs_p": null,
"transcript": "NR_027671.3",
"protein_id": null,
"transcript_support_level": null,
"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": 10942,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGGT1",
"gene_hgnc_id": 15663,
"hgvs_c": "c.-228G>A",
"hgvs_p": null,
"transcript": "XM_047445125.1",
"protein_id": "XP_047301081.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1241,
"cds_start": -4,
"cds_end": null,
"cds_length": 3726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10543,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "UGGT1",
"gene_hgnc_id": 15663,
"dbsnp": "rs146323756",
"frequency_reference_population": 0.00007124952,
"hom_count_reference_population": 0,
"allele_count_reference_population": 115,
"gnomad_exomes_af": 0.0000718314,
"gnomad_genomes_af": 0.0000656642,
"gnomad_exomes_ac": 105,
"gnomad_genomes_ac": 10,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.24076247215270996,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.272,
"revel_prediction": "Benign",
"alphamissense_score": 0.1027,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.124,
"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": 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_020120.4",
"gene_symbol": "UGGT1",
"hgnc_id": 15663,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Val239Ile"
}
],
"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
}