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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: 12-109109938-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=109109938&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 109109938,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000242576.7",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNG",
"gene_hgnc_id": 12572,
"hgvs_c": "c.911G>A",
"hgvs_p": "p.Gly304Asp",
"transcript": "NM_080911.3",
"protein_id": "NP_550433.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 313,
"cds_start": 911,
"cds_end": null,
"cds_length": 942,
"cdna_start": 994,
"cdna_end": null,
"cdna_length": 2048,
"mane_select": "ENST00000242576.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNG",
"gene_hgnc_id": 12572,
"hgvs_c": "c.911G>A",
"hgvs_p": "p.Gly304Asp",
"transcript": "ENST00000242576.7",
"protein_id": "ENSP00000242576.3",
"transcript_support_level": 1,
"aa_start": 304,
"aa_end": null,
"aa_length": 313,
"cds_start": 911,
"cds_end": null,
"cds_length": 942,
"cdna_start": 994,
"cdna_end": null,
"cdna_length": 2048,
"mane_select": "NM_080911.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNG",
"gene_hgnc_id": 12572,
"hgvs_c": "c.884G>A",
"hgvs_p": "p.Gly295Asp",
"transcript": "ENST00000336865.6",
"protein_id": "ENSP00000337398.2",
"transcript_support_level": 1,
"aa_start": 295,
"aa_end": null,
"aa_length": 304,
"cds_start": 884,
"cds_end": null,
"cds_length": 915,
"cdna_start": 1093,
"cdna_end": null,
"cdna_length": 2130,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNG",
"gene_hgnc_id": 12572,
"hgvs_c": "n.*360G>A",
"hgvs_p": null,
"transcript": "ENST00000446767.2",
"protein_id": "ENSP00000400287.2",
"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": 2016,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNG",
"gene_hgnc_id": 12572,
"hgvs_c": "n.*360G>A",
"hgvs_p": null,
"transcript": "ENST00000446767.2",
"protein_id": "ENSP00000400287.2",
"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": 2016,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNG",
"gene_hgnc_id": 12572,
"hgvs_c": "c.884G>A",
"hgvs_p": "p.Gly295Asp",
"transcript": "NM_003362.4",
"protein_id": "NP_003353.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 304,
"cds_start": 884,
"cds_end": null,
"cds_length": 915,
"cdna_start": 1039,
"cdna_end": null,
"cdna_length": 2093,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNG",
"gene_hgnc_id": 12572,
"hgvs_c": "c.881G>A",
"hgvs_p": "p.Gly294Asp",
"transcript": "ENST00000699562.1",
"protein_id": "ENSP00000514436.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 303,
"cds_start": 881,
"cds_end": null,
"cds_length": 912,
"cdna_start": 1036,
"cdna_end": null,
"cdna_length": 2059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNG",
"gene_hgnc_id": 12572,
"hgvs_c": "c.788G>A",
"hgvs_p": "p.Gly263Asp",
"transcript": "ENST00000699560.1",
"protein_id": "ENSP00000514434.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 272,
"cds_start": 788,
"cds_end": null,
"cds_length": 819,
"cdna_start": 954,
"cdna_end": null,
"cdna_length": 1972,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNG",
"gene_hgnc_id": 12572,
"hgvs_c": "n.*227G>A",
"hgvs_p": null,
"transcript": "ENST00000539287.6",
"protein_id": "ENSP00000440784.1",
"transcript_support_level": 5,
"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": 2237,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNG",
"gene_hgnc_id": 12572,
"hgvs_c": "n.*182G>A",
"hgvs_p": null,
"transcript": "ENST00000699559.1",
"protein_id": "ENSP00000514433.1",
"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": 2234,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNG",
"gene_hgnc_id": 12572,
"hgvs_c": "n.*340G>A",
"hgvs_p": null,
"transcript": "ENST00000699565.1",
"protein_id": "ENSP00000514439.1",
"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": 1919,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNG",
"gene_hgnc_id": 12572,
"hgvs_c": "n.*662G>A",
"hgvs_p": null,
"transcript": "ENST00000699566.1",
"protein_id": "ENSP00000514440.1",
"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": 2026,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNG",
"gene_hgnc_id": 12572,
"hgvs_c": "n.*231G>A",
"hgvs_p": null,
"transcript": "ENST00000699567.1",
"protein_id": "ENSP00000514441.1",
"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": 1849,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNG",
"gene_hgnc_id": 12572,
"hgvs_c": "n.*227G>A",
"hgvs_p": null,
"transcript": "ENST00000539287.6",
"protein_id": "ENSP00000440784.1",
"transcript_support_level": 5,
"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": 2237,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNG",
"gene_hgnc_id": 12572,
"hgvs_c": "n.*182G>A",
"hgvs_p": null,
"transcript": "ENST00000699559.1",
"protein_id": "ENSP00000514433.1",
"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": 2234,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNG",
"gene_hgnc_id": 12572,
"hgvs_c": "n.*340G>A",
"hgvs_p": null,
"transcript": "ENST00000699565.1",
"protein_id": "ENSP00000514439.1",
"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": 1919,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNG",
"gene_hgnc_id": 12572,
"hgvs_c": "n.*662G>A",
"hgvs_p": null,
"transcript": "ENST00000699566.1",
"protein_id": "ENSP00000514440.1",
"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": 2026,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNG",
"gene_hgnc_id": 12572,
"hgvs_c": "n.*231G>A",
"hgvs_p": null,
"transcript": "ENST00000699567.1",
"protein_id": "ENSP00000514441.1",
"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": 1849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "UNG",
"gene_hgnc_id": 12572,
"hgvs_c": "c.774+6327G>A",
"hgvs_p": null,
"transcript": "ENST00000699563.1",
"protein_id": "ENSP00000514437.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 269,
"cds_start": -4,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "UNG",
"gene_hgnc_id": 12572,
"dbsnp": "rs1555265484",
"frequency_reference_population": 0.000001368092,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136809,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8092621564865112,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.693,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.1921,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.362,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000242576.7",
"gene_symbol": "UNG",
"hgnc_id": 12572,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.911G>A",
"hgvs_p": "p.Gly304Asp"
}
],
"clinvar_disease": "Hyper-IgM syndrome type 5",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Hyper-IgM syndrome type 5",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}