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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: 16-72022386-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=72022386&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "DHODH",
"hgnc_id": 2867,
"hgvs_c": "c.730C>G",
"hgvs_p": "p.Arg244Gly",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001361.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 6,
"alphamissense_prediction": null,
"alphamissense_score": 0.0821,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.29,
"chr": "16",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.21433913707733154,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 395,
"aa_ref": "R",
"aa_start": 244,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4669,
"cdna_start": 751,
"cds_end": null,
"cds_length": 1188,
"cds_start": 730,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001361.5",
"gene_hgnc_id": 2867,
"gene_symbol": "DHODH",
"hgvs_c": "c.730C>G",
"hgvs_p": "p.Arg244Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000219240.9",
"protein_coding": true,
"protein_id": "NP_001352.2",
"strand": true,
"transcript": "NM_001361.5",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 395,
"aa_ref": "R",
"aa_start": 244,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4669,
"cdna_start": 751,
"cds_end": null,
"cds_length": 1188,
"cds_start": 730,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000219240.9",
"gene_hgnc_id": 2867,
"gene_symbol": "DHODH",
"hgvs_c": "c.730C>G",
"hgvs_p": "p.Arg244Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001361.5",
"protein_coding": true,
"protein_id": "ENSP00000219240.4",
"strand": true,
"transcript": "ENST00000219240.9",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 457,
"aa_ref": "R",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2617,
"cdna_start": 931,
"cds_end": null,
"cds_length": 1374,
"cds_start": 916,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000894311.1",
"gene_hgnc_id": 2867,
"gene_symbol": "DHODH",
"hgvs_c": "c.916C>G",
"hgvs_p": "p.Arg306Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564370.1",
"strand": true,
"transcript": "ENST00000894311.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 394,
"aa_ref": "R",
"aa_start": 243,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1510,
"cdna_start": 742,
"cds_end": null,
"cds_length": 1185,
"cds_start": 727,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000894313.1",
"gene_hgnc_id": 2867,
"gene_symbol": "DHODH",
"hgvs_c": "c.727C>G",
"hgvs_p": "p.Arg243Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564372.1",
"strand": true,
"transcript": "ENST00000894313.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 393,
"aa_ref": "R",
"aa_start": 244,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4824,
"cdna_start": 907,
"cds_end": null,
"cds_length": 1182,
"cds_start": 730,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000572887.5",
"gene_hgnc_id": 2867,
"gene_symbol": "DHODH",
"hgvs_c": "c.730C>G",
"hgvs_p": "p.Arg244Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000461848.1",
"strand": true,
"transcript": "ENST00000572887.5",
"transcript_support_level": 5
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 392,
"aa_ref": "R",
"aa_start": 241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2284,
"cdna_start": 736,
"cds_end": null,
"cds_length": 1179,
"cds_start": 721,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000894312.1",
"gene_hgnc_id": 2867,
"gene_symbol": "DHODH",
"hgvs_c": "c.721C>G",
"hgvs_p": "p.Arg241Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564371.1",
"strand": true,
"transcript": "ENST00000894312.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 375,
"aa_ref": "R",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1462,
"cdna_start": 691,
"cds_end": null,
"cds_length": 1128,
"cds_start": 670,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000936686.1",
"gene_hgnc_id": 2867,
"gene_symbol": "DHODH",
"hgvs_c": "c.670C>G",
"hgvs_p": "p.Arg224Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606745.1",
"strand": true,
"transcript": "ENST00000936686.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 324,
"aa_ref": "R",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1850,
"cdna_start": 538,
"cds_end": null,
"cds_length": 975,
"cds_start": 517,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000936685.1",
"gene_hgnc_id": 2867,
"gene_symbol": "DHODH",
"hgvs_c": "c.517C>G",
"hgvs_p": "p.Arg173Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606744.1",
"strand": true,
"transcript": "ENST00000936685.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 367,
"aa_ref": "R",
"aa_start": 216,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4793,
"cdna_start": 875,
"cds_end": null,
"cds_length": 1104,
"cds_start": 646,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047433674.1",
"gene_hgnc_id": 2867,
"gene_symbol": "DHODH",
"hgvs_c": "c.646C>G",
"hgvs_p": "p.Arg216Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047289630.1",
"strand": true,
"transcript": "XM_047433674.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 252,
"aa_ref": "R",
"aa_start": 101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4342,
"cdna_start": 424,
"cds_end": null,
"cds_length": 759,
"cds_start": 301,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_005255829.5",
"gene_hgnc_id": 2867,
"gene_symbol": "DHODH",
"hgvs_c": "c.301C>G",
"hgvs_p": "p.Arg101Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005255886.1",
"strand": true,
"transcript": "XM_005255829.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 357,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2185,
"cdna_start": null,
"cds_end": null,
"cds_length": 1074,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000936684.1",
"gene_hgnc_id": 2867,
"gene_symbol": "DHODH",
"hgvs_c": "c.706-779C>G",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606743.1",
"strand": true,
"transcript": "ENST00000936684.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 192,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 607,
"cdna_start": null,
"cds_end": null,
"cds_length": 579,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000574309.5",
"gene_hgnc_id": 2867,
"gene_symbol": "DHODH",
"hgvs_c": "c.512-1759C>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000460966.1",
"strand": true,
"transcript": "ENST00000574309.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 162,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1603,
"cdna_start": null,
"cds_end": null,
"cds_length": 489,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000958705.1",
"gene_hgnc_id": 2867,
"gene_symbol": "DHODH",
"hgvs_c": "c.435-1759C>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628764.1",
"strand": true,
"transcript": "ENST00000958705.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2165,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000571392.1",
"gene_hgnc_id": 2867,
"gene_symbol": "DHODH",
"hgvs_c": "n.1485-779C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000571392.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 427,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000573922.5",
"gene_hgnc_id": 2867,
"gene_symbol": "DHODH",
"hgvs_c": "n.314-779C>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000573922.5",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs267606768",
"effect": "missense_variant",
"frequency_reference_population": 0.0000042775564,
"gene_hgnc_id": 2867,
"gene_symbol": "DHODH",
"gnomad_exomes_ac": 6,
"gnomad_exomes_af": 0.00000427756,
"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": "Benign",
"phylop100way_score": 0.718,
"pos": 72022386,
"ref": "C",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.3,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.20000000298023224,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.2,
"transcript": "NM_001361.5"
}
]
}