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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: 11-75983402-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=75983402&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 75983402,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001386671.1",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UVRAG",
"gene_hgnc_id": 12640,
"hgvs_c": "c.715T>C",
"hgvs_p": "p.Cys239Arg",
"transcript": "NM_003369.4",
"protein_id": "NP_003360.2",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 699,
"cds_start": 715,
"cds_end": null,
"cds_length": 2100,
"cdna_start": 913,
"cdna_end": null,
"cdna_length": 5117,
"mane_select": "ENST00000356136.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003369.4"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UVRAG",
"gene_hgnc_id": 12640,
"hgvs_c": "c.715T>C",
"hgvs_p": "p.Cys239Arg",
"transcript": "ENST00000356136.8",
"protein_id": "ENSP00000348455.3",
"transcript_support_level": 1,
"aa_start": 239,
"aa_end": null,
"aa_length": 699,
"cds_start": 715,
"cds_end": null,
"cds_length": 2100,
"cdna_start": 913,
"cdna_end": null,
"cdna_length": 5117,
"mane_select": "NM_003369.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356136.8"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UVRAG",
"gene_hgnc_id": 12640,
"hgvs_c": "c.715T>C",
"hgvs_p": "p.Cys239Arg",
"transcript": "NM_001386671.1",
"protein_id": "NP_001373600.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 725,
"cds_start": 715,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 913,
"cdna_end": null,
"cdna_length": 5195,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386671.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UVRAG",
"gene_hgnc_id": 12640,
"hgvs_c": "c.715T>C",
"hgvs_p": "p.Cys239Arg",
"transcript": "ENST00000876952.1",
"protein_id": "ENSP00000547011.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 725,
"cds_start": 715,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 933,
"cdna_end": null,
"cdna_length": 3634,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876952.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UVRAG",
"gene_hgnc_id": 12640,
"hgvs_c": "c.715T>C",
"hgvs_p": "p.Cys239Arg",
"transcript": "ENST00000969466.1",
"protein_id": "ENSP00000639525.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 698,
"cds_start": 715,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 943,
"cdna_end": null,
"cdna_length": 5171,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969466.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UVRAG",
"gene_hgnc_id": 12640,
"hgvs_c": "c.553T>C",
"hgvs_p": "p.Cys185Arg",
"transcript": "NM_001386672.1",
"protein_id": "NP_001373601.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 645,
"cds_start": 553,
"cds_end": null,
"cds_length": 1938,
"cdna_start": 751,
"cdna_end": null,
"cdna_length": 4955,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386672.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UVRAG",
"gene_hgnc_id": 12640,
"hgvs_c": "c.412T>C",
"hgvs_p": "p.Cys138Arg",
"transcript": "ENST00000528420.5",
"protein_id": "ENSP00000436039.1",
"transcript_support_level": 2,
"aa_start": 138,
"aa_end": null,
"aa_length": 598,
"cds_start": 412,
"cds_end": null,
"cds_length": 1797,
"cdna_start": 697,
"cdna_end": null,
"cdna_length": 2463,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528420.5"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UVRAG",
"gene_hgnc_id": 12640,
"hgvs_c": "c.715T>C",
"hgvs_p": "p.Cys239Arg",
"transcript": "NM_001386673.1",
"protein_id": "NP_001373602.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 485,
"cds_start": 715,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 913,
"cdna_end": null,
"cdna_length": 3919,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386673.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UVRAG",
"gene_hgnc_id": 12640,
"hgvs_c": "c.715T>C",
"hgvs_p": "p.Cys239Arg",
"transcript": "NM_001386674.1",
"protein_id": "NP_001373603.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 442,
"cds_start": 715,
"cds_end": null,
"cds_length": 1329,
"cdna_start": 913,
"cdna_end": null,
"cdna_length": 1746,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386674.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UVRAG",
"gene_hgnc_id": 12640,
"hgvs_c": "c.715T>C",
"hgvs_p": "p.Cys239Arg",
"transcript": "XM_047427520.1",
"protein_id": "XP_047283476.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 543,
"cds_start": 715,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 913,
"cdna_end": null,
"cdna_length": 1909,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427520.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UVRAG",
"gene_hgnc_id": 12640,
"hgvs_c": "c.715T>C",
"hgvs_p": "p.Cys239Arg",
"transcript": "XM_047427521.1",
"protein_id": "XP_047283477.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 462,
"cds_start": 715,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 913,
"cdna_end": null,
"cdna_length": 6074,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427521.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UVRAG",
"gene_hgnc_id": 12640,
"hgvs_c": "c.-402T>C",
"hgvs_p": null,
"transcript": "ENST00000531818.5",
"protein_id": "ENSP00000434082.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 327,
"cds_start": null,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3152,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000531818.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UVRAG",
"gene_hgnc_id": 12640,
"hgvs_c": "c.-402T>C",
"hgvs_p": null,
"transcript": "ENST00000532130.1",
"protein_id": "ENSP00000436270.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 327,
"cds_start": null,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1831,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532130.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UVRAG",
"gene_hgnc_id": 12640,
"hgvs_c": "c.-578T>C",
"hgvs_p": null,
"transcript": "ENST00000533454.5",
"protein_id": "ENSP00000431256.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 327,
"cds_start": null,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1823,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533454.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UVRAG",
"gene_hgnc_id": 12640,
"hgvs_c": "c.-402T>C",
"hgvs_p": null,
"transcript": "XM_047427522.1",
"protein_id": "XP_047283478.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 327,
"cds_start": null,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4383,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427522.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "UVRAG",
"gene_hgnc_id": 12640,
"hgvs_c": "n.103T>C",
"hgvs_p": null,
"transcript": "ENST00000530501.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 525,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000530501.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UVRAG",
"gene_hgnc_id": 12640,
"hgvs_c": "n.913T>C",
"hgvs_p": null,
"transcript": "NR_170160.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5293,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_170160.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UVRAG",
"gene_hgnc_id": 12640,
"hgvs_c": "n.913T>C",
"hgvs_p": null,
"transcript": "NR_170161.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5380,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_170161.1"
}
],
"gene_symbol": "UVRAG",
"gene_hgnc_id": 12640,
"dbsnp": "rs770536925",
"frequency_reference_population": 6.932121e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.93212e-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": 0.7016233205795288,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.234,
"revel_prediction": "Benign",
"alphamissense_score": 0.3092,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.306,
"phylop100way_prediction": "Uncertain_significance",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001386671.1",
"gene_symbol": "UVRAG",
"hgnc_id": 12640,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.715T>C",
"hgvs_p": "p.Cys239Arg"
}
],
"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
}