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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: 11-75912020-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=75912020&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "UVRAG",
"hgnc_id": 12640,
"hgvs_c": "c.574G>T",
"hgvs_p": "p.Asp192Tyr",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001386671.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.9268,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.13,
"chr": "11",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.5987570285797119,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 699,
"aa_ref": "D",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5117,
"cdna_start": 772,
"cds_end": null,
"cds_length": 2100,
"cds_start": 574,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_003369.4",
"gene_hgnc_id": 12640,
"gene_symbol": "UVRAG",
"hgvs_c": "c.574G>T",
"hgvs_p": "p.Asp192Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000356136.8",
"protein_coding": true,
"protein_id": "NP_003360.2",
"strand": true,
"transcript": "NM_003369.4",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 699,
"aa_ref": "D",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5117,
"cdna_start": 772,
"cds_end": null,
"cds_length": 2100,
"cds_start": 574,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000356136.8",
"gene_hgnc_id": 12640,
"gene_symbol": "UVRAG",
"hgvs_c": "c.574G>T",
"hgvs_p": "p.Asp192Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003369.4",
"protein_coding": true,
"protein_id": "ENSP00000348455.3",
"strand": true,
"transcript": "ENST00000356136.8",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 725,
"aa_ref": "D",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5195,
"cdna_start": 772,
"cds_end": null,
"cds_length": 2178,
"cds_start": 574,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001386671.1",
"gene_hgnc_id": 12640,
"gene_symbol": "UVRAG",
"hgvs_c": "c.574G>T",
"hgvs_p": "p.Asp192Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373600.1",
"strand": true,
"transcript": "NM_001386671.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 725,
"aa_ref": "D",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3634,
"cdna_start": 792,
"cds_end": null,
"cds_length": 2178,
"cds_start": 574,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000876952.1",
"gene_hgnc_id": 12640,
"gene_symbol": "UVRAG",
"hgvs_c": "c.574G>T",
"hgvs_p": "p.Asp192Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547011.1",
"strand": true,
"transcript": "ENST00000876952.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 698,
"aa_ref": "D",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5171,
"cdna_start": 802,
"cds_end": null,
"cds_length": 2097,
"cds_start": 574,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000969466.1",
"gene_hgnc_id": 12640,
"gene_symbol": "UVRAG",
"hgvs_c": "c.574G>T",
"hgvs_p": "p.Asp192Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639525.1",
"strand": true,
"transcript": "ENST00000969466.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 645,
"aa_ref": "D",
"aa_start": 138,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4955,
"cdna_start": 610,
"cds_end": null,
"cds_length": 1938,
"cds_start": 412,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001386672.1",
"gene_hgnc_id": 12640,
"gene_symbol": "UVRAG",
"hgvs_c": "c.412G>T",
"hgvs_p": "p.Asp138Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373601.1",
"strand": true,
"transcript": "NM_001386672.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 598,
"aa_ref": "D",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2463,
"cdna_start": 556,
"cds_end": null,
"cds_length": 1797,
"cds_start": 271,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000528420.5",
"gene_hgnc_id": 12640,
"gene_symbol": "UVRAG",
"hgvs_c": "c.271G>T",
"hgvs_p": "p.Asp91Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000436039.1",
"strand": true,
"transcript": "ENST00000528420.5",
"transcript_support_level": 2
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 485,
"aa_ref": "D",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3919,
"cdna_start": 772,
"cds_end": null,
"cds_length": 1458,
"cds_start": 574,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001386673.1",
"gene_hgnc_id": 12640,
"gene_symbol": "UVRAG",
"hgvs_c": "c.574G>T",
"hgvs_p": "p.Asp192Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373602.1",
"strand": true,
"transcript": "NM_001386673.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 442,
"aa_ref": "D",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1746,
"cdna_start": 772,
"cds_end": null,
"cds_length": 1329,
"cds_start": 574,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001386674.1",
"gene_hgnc_id": 12640,
"gene_symbol": "UVRAG",
"hgvs_c": "c.574G>T",
"hgvs_p": "p.Asp192Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373603.1",
"strand": true,
"transcript": "NM_001386674.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 131,
"aa_ref": "D",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 511,
"cdna_start": 386,
"cds_end": null,
"cds_length": 396,
"cds_start": 271,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000528264.1",
"gene_hgnc_id": 12640,
"gene_symbol": "UVRAG",
"hgvs_c": "c.271G>T",
"hgvs_p": "p.Asp91Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000433613.1",
"strand": true,
"transcript": "ENST00000528264.1",
"transcript_support_level": 5
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 543,
"aa_ref": "D",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1909,
"cdna_start": 772,
"cds_end": null,
"cds_length": 1632,
"cds_start": 574,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047427520.1",
"gene_hgnc_id": 12640,
"gene_symbol": "UVRAG",
"hgvs_c": "c.574G>T",
"hgvs_p": "p.Asp192Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283476.1",
"strand": true,
"transcript": "XM_047427520.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 462,
"aa_ref": "D",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6074,
"cdna_start": 772,
"cds_end": null,
"cds_length": 1389,
"cds_start": 574,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047427521.1",
"gene_hgnc_id": 12640,
"gene_symbol": "UVRAG",
"hgvs_c": "c.574G>T",
"hgvs_p": "p.Asp192Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283477.1",
"strand": true,
"transcript": "XM_047427521.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 713,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000525872.1",
"gene_hgnc_id": 12640,
"gene_symbol": "UVRAG",
"hgvs_c": "n.42G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000525872.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 5293,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NR_170160.1",
"gene_hgnc_id": 12640,
"gene_symbol": "UVRAG",
"hgvs_c": "n.772G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_170160.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 5380,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NR_170161.1",
"gene_hgnc_id": 12640,
"gene_symbol": "UVRAG",
"hgvs_c": "n.772G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_170161.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs564183966",
"effect": "missense_variant",
"frequency_reference_population": 0.0000020553773,
"gene_hgnc_id": 12640,
"gene_symbol": "UVRAG",
"gnomad_exomes_ac": 3,
"gnomad_exomes_af": 0.00000205538,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 5.939,
"pos": 75912020,
"ref": "G",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.339,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001386671.1"
}
]
}