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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: 16-72021201-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=72021201&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM2",
"PP3_Moderate",
"PP5"
],
"effects": [
"missense_variant"
],
"gene_symbol": "DHODH",
"hgnc_id": 2867,
"hgvs_c": "c.595C>T",
"hgvs_p": "p.Arg199Cys",
"inheritance_mode": "AR",
"pathogenic_score": 7,
"score": 7,
"transcript": "NM_001361.5",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PP3_Moderate,PP5",
"acmg_score": 7,
"allele_count_reference_population": 37,
"alphamissense_prediction": null,
"alphamissense_score": 0.1641,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.38,
"chr": "16",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Miller syndrome",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8886052370071411,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 395,
"aa_ref": "R",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4669,
"cdna_start": 616,
"cds_end": null,
"cds_length": 1188,
"cds_start": 595,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001361.5",
"gene_hgnc_id": 2867,
"gene_symbol": "DHODH",
"hgvs_c": "c.595C>T",
"hgvs_p": "p.Arg199Cys",
"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": "C",
"aa_end": null,
"aa_length": 395,
"aa_ref": "R",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4669,
"cdna_start": 616,
"cds_end": null,
"cds_length": 1188,
"cds_start": 595,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000219240.9",
"gene_hgnc_id": 2867,
"gene_symbol": "DHODH",
"hgvs_c": "c.595C>T",
"hgvs_p": "p.Arg199Cys",
"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": "C",
"aa_end": null,
"aa_length": 457,
"aa_ref": "R",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2617,
"cdna_start": 796,
"cds_end": null,
"cds_length": 1374,
"cds_start": 781,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000894311.1",
"gene_hgnc_id": 2867,
"gene_symbol": "DHODH",
"hgvs_c": "c.781C>T",
"hgvs_p": "p.Arg261Cys",
"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": "C",
"aa_end": null,
"aa_length": 394,
"aa_ref": "R",
"aa_start": 198,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1510,
"cdna_start": 607,
"cds_end": null,
"cds_length": 1185,
"cds_start": 592,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000894313.1",
"gene_hgnc_id": 2867,
"gene_symbol": "DHODH",
"hgvs_c": "c.592C>T",
"hgvs_p": "p.Arg198Cys",
"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": "C",
"aa_end": null,
"aa_length": 393,
"aa_ref": "R",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4824,
"cdna_start": 772,
"cds_end": null,
"cds_length": 1182,
"cds_start": 595,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000572887.5",
"gene_hgnc_id": 2867,
"gene_symbol": "DHODH",
"hgvs_c": "c.595C>T",
"hgvs_p": "p.Arg199Cys",
"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": "C",
"aa_end": null,
"aa_length": 392,
"aa_ref": "R",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2284,
"cdna_start": 610,
"cds_end": null,
"cds_length": 1179,
"cds_start": 595,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000894312.1",
"gene_hgnc_id": 2867,
"gene_symbol": "DHODH",
"hgvs_c": "c.595C>T",
"hgvs_p": "p.Arg199Cys",
"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": "C",
"aa_end": null,
"aa_length": 375,
"aa_ref": "R",
"aa_start": 179,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1462,
"cdna_start": 556,
"cds_end": null,
"cds_length": 1128,
"cds_start": 535,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000936686.1",
"gene_hgnc_id": 2867,
"gene_symbol": "DHODH",
"hgvs_c": "c.535C>T",
"hgvs_p": "p.Arg179Cys",
"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": "C",
"aa_end": null,
"aa_length": 357,
"aa_ref": "R",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2185,
"cdna_start": 615,
"cds_end": null,
"cds_length": 1074,
"cds_start": 595,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000936684.1",
"gene_hgnc_id": 2867,
"gene_symbol": "DHODH",
"hgvs_c": "c.595C>T",
"hgvs_p": "p.Arg199Cys",
"intron_rank": null,
"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": "C",
"aa_end": null,
"aa_length": 324,
"aa_ref": "R",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1850,
"cdna_start": 403,
"cds_end": null,
"cds_length": 975,
"cds_start": 382,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000936685.1",
"gene_hgnc_id": 2867,
"gene_symbol": "DHODH",
"hgvs_c": "c.382C>T",
"hgvs_p": "p.Arg128Cys",
"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": "C",
"aa_end": null,
"aa_length": 367,
"aa_ref": "R",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4793,
"cdna_start": 740,
"cds_end": null,
"cds_length": 1104,
"cds_start": 511,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047433674.1",
"gene_hgnc_id": 2867,
"gene_symbol": "DHODH",
"hgvs_c": "c.511C>T",
"hgvs_p": "p.Arg171Cys",
"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": "C",
"aa_end": null,
"aa_length": 252,
"aa_ref": "R",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4342,
"cdna_start": 289,
"cds_end": null,
"cds_length": 759,
"cds_start": 166,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_005255829.5",
"gene_hgnc_id": 2867,
"gene_symbol": "DHODH",
"hgvs_c": "c.166C>T",
"hgvs_p": "p.Arg56Cys",
"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": 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.512-2944C>T",
"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.435-2944C>T",
"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": 542,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000572003.5",
"gene_hgnc_id": 2867,
"gene_symbol": "DHODH",
"hgvs_c": "n.512C>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": "ENST00000572003.5",
"transcript_support_level": 4
},
{
"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.1485-1964C>T",
"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.314-1964C>T",
"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
},
{
"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": 549,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000573843.1",
"gene_hgnc_id": 2867,
"gene_symbol": "DHODH",
"hgvs_c": "n.*9C>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": "ENST00000573843.1",
"transcript_support_level": 4
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs267606769",
"effect": "missense_variant",
"frequency_reference_population": 0.000022972206,
"gene_hgnc_id": 2867,
"gene_symbol": "DHODH",
"gnomad_exomes_ac": 32,
"gnomad_exomes_af": 0.0000219411,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 5,
"gnomad_genomes_af": 0.0000328528,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Pathogenic",
"phenotype_combined": "Miller syndrome",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 4.806,
"pos": 72021201,
"ref": "C",
"revel_prediction": "Pathogenic",
"revel_score": 0.659,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001361.5"
}
]
}