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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: 16-72021211-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=72021211&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 72021211,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000219240.9",
"consequences": [
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHODH",
"gene_hgnc_id": 2867,
"hgvs_c": "c.605G>A",
"hgvs_p": "p.Gly202Asp",
"transcript": "NM_001361.5",
"protein_id": "NP_001352.2",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 395,
"cds_start": 605,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 626,
"cdna_end": null,
"cdna_length": 4669,
"mane_select": "ENST00000219240.9",
"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": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHODH",
"gene_hgnc_id": 2867,
"hgvs_c": "c.605G>A",
"hgvs_p": "p.Gly202Asp",
"transcript": "ENST00000219240.9",
"protein_id": "ENSP00000219240.4",
"transcript_support_level": 1,
"aa_start": 202,
"aa_end": null,
"aa_length": 395,
"cds_start": 605,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 626,
"cdna_end": null,
"cdna_length": 4669,
"mane_select": "NM_001361.5",
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHODH",
"gene_hgnc_id": 2867,
"hgvs_c": "c.605G>A",
"hgvs_p": "p.Gly202Asp",
"transcript": "ENST00000572887.5",
"protein_id": "ENSP00000461848.1",
"transcript_support_level": 5,
"aa_start": 202,
"aa_end": null,
"aa_length": 393,
"cds_start": 605,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 782,
"cdna_end": null,
"cdna_length": 4824,
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHODH",
"gene_hgnc_id": 2867,
"hgvs_c": "c.521G>A",
"hgvs_p": "p.Gly174Asp",
"transcript": "XM_047433674.1",
"protein_id": "XP_047289630.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 367,
"cds_start": 521,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 750,
"cdna_end": null,
"cdna_length": 4793,
"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": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHODH",
"gene_hgnc_id": 2867,
"hgvs_c": "c.176G>A",
"hgvs_p": "p.Gly59Asp",
"transcript": "XM_005255829.5",
"protein_id": "XP_005255886.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 252,
"cds_start": 176,
"cds_end": null,
"cds_length": 759,
"cdna_start": 299,
"cdna_end": null,
"cdna_length": 4342,
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHODH",
"gene_hgnc_id": 2867,
"hgvs_c": "n.522G>A",
"hgvs_p": null,
"transcript": "ENST00000572003.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 542,
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DHODH",
"gene_hgnc_id": 2867,
"hgvs_c": "c.512-2934G>A",
"hgvs_p": null,
"transcript": "ENST00000574309.5",
"protein_id": "ENSP00000460966.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 192,
"cds_start": -4,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 607,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DHODH",
"gene_hgnc_id": 2867,
"hgvs_c": "n.1485-1954G>A",
"hgvs_p": null,
"transcript": "ENST00000571392.1",
"protein_id": null,
"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": 2165,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DHODH",
"gene_hgnc_id": 2867,
"hgvs_c": "n.314-1954G>A",
"hgvs_p": null,
"transcript": "ENST00000573922.5",
"protein_id": null,
"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": 427,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHODH",
"gene_hgnc_id": 2867,
"hgvs_c": "n.*19G>A",
"hgvs_p": null,
"transcript": "ENST00000573843.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DHODH",
"gene_hgnc_id": 2867,
"dbsnp": "rs267606767",
"frequency_reference_population": 0.00005460195,
"hom_count_reference_population": 0,
"allele_count_reference_population": 88,
"gnomad_exomes_af": 0.000054818,
"gnomad_genomes_af": 0.0000525314,
"gnomad_exomes_ac": 80,
"gnomad_genomes_ac": 8,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9261915683746338,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.815,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9249,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.4,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.8,
"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": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PM5,PP3_Moderate,PP5",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM2",
"PM5",
"PP3_Moderate",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000219240.9",
"gene_symbol": "DHODH",
"hgnc_id": 2867,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.605G>A",
"hgvs_p": "p.Gly202Asp"
}
],
"clinvar_disease": "Miller syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Miller syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}