← Back to variant description
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: 8-123328558-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=123328558&ref=C&alt=T&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": "ATAD2",
"hgnc_id": 30123,
"hgvs_c": "c.3500G>A",
"hgvs_p": "p.Arg1167His",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_014109.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 38,
"alphamissense_prediction": null,
"alphamissense_score": 0.0831,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.14,
"chr": "8",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.1181122362613678,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1390,
"aa_ref": "R",
"aa_start": 1167,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5547,
"cdna_start": 3590,
"cds_end": null,
"cds_length": 4173,
"cds_start": 3500,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "NM_014109.4",
"gene_hgnc_id": 30123,
"gene_symbol": "ATAD2",
"hgvs_c": "c.3500G>A",
"hgvs_p": "p.Arg1167His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000287394.10",
"protein_coding": true,
"protein_id": "NP_054828.2",
"strand": false,
"transcript": "NM_014109.4",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1390,
"aa_ref": "R",
"aa_start": 1167,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5547,
"cdna_start": 3590,
"cds_end": null,
"cds_length": 4173,
"cds_start": 3500,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000287394.10",
"gene_hgnc_id": 30123,
"gene_symbol": "ATAD2",
"hgvs_c": "c.3500G>A",
"hgvs_p": "p.Arg1167His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014109.4",
"protein_coding": true,
"protein_id": "ENSP00000287394.5",
"strand": false,
"transcript": "ENST00000287394.10",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 708,
"aa_ref": "R",
"aa_start": 485,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5143,
"cdna_start": 3838,
"cds_end": null,
"cds_length": 2127,
"cds_start": 1454,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000521903.5",
"gene_hgnc_id": 30123,
"gene_symbol": "ATAD2",
"hgvs_c": "c.1454G>A",
"hgvs_p": "p.Arg485His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000429213.1",
"strand": false,
"transcript": "ENST00000521903.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4650,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 28,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000519124.5",
"gene_hgnc_id": 30123,
"gene_symbol": "ATAD2",
"hgvs_c": "n.*3310G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000429617.1",
"strand": false,
"transcript": "ENST00000519124.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4650,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 28,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000519124.5",
"gene_hgnc_id": 30123,
"gene_symbol": "ATAD2",
"hgvs_c": "n.*3310G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000429617.1",
"strand": false,
"transcript": "ENST00000519124.5",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1347,
"aa_ref": "R",
"aa_start": 1167,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4749,
"cdna_start": 3573,
"cds_end": null,
"cds_length": 4044,
"cds_start": 3500,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000962834.1",
"gene_hgnc_id": 30123,
"gene_symbol": "ATAD2",
"hgvs_c": "c.3500G>A",
"hgvs_p": "p.Arg1167His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632893.1",
"strand": false,
"transcript": "ENST00000962834.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1246,
"aa_ref": "R",
"aa_start": 1023,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3921,
"cdna_start": 3119,
"cds_end": null,
"cds_length": 3741,
"cds_start": 3068,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000915701.1",
"gene_hgnc_id": 30123,
"gene_symbol": "ATAD2",
"hgvs_c": "c.3068G>A",
"hgvs_p": "p.Arg1023His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585760.1",
"strand": false,
"transcript": "ENST00000915701.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1148,
"aa_ref": "R",
"aa_start": 925,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4138,
"cdna_start": 2833,
"cds_end": null,
"cds_length": 3447,
"cds_start": 2774,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000915700.1",
"gene_hgnc_id": 30123,
"gene_symbol": "ATAD2",
"hgvs_c": "c.2774G>A",
"hgvs_p": "p.Arg925His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585759.1",
"strand": false,
"transcript": "ENST00000915700.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 541,
"aa_ref": "R",
"aa_start": 318,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2369,
"cdna_start": 1066,
"cds_end": null,
"cds_length": 1626,
"cds_start": 953,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000915699.1",
"gene_hgnc_id": 30123,
"gene_symbol": "ATAD2",
"hgvs_c": "c.953G>A",
"hgvs_p": "p.Arg318His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585758.1",
"strand": false,
"transcript": "ENST00000915699.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1220,
"aa_ref": "R",
"aa_start": 997,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5487,
"cdna_start": 3530,
"cds_end": null,
"cds_length": 3663,
"cds_start": 2990,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "XM_047421722.1",
"gene_hgnc_id": 30123,
"gene_symbol": "ATAD2",
"hgvs_c": "c.2990G>A",
"hgvs_p": "p.Arg997His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277678.1",
"strand": false,
"transcript": "XM_047421722.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1220,
"aa_ref": "R",
"aa_start": 997,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5389,
"cdna_start": 3432,
"cds_end": null,
"cds_length": 3663,
"cds_start": 2990,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "XM_047421723.1",
"gene_hgnc_id": 30123,
"gene_symbol": "ATAD2",
"hgvs_c": "c.2990G>A",
"hgvs_p": "p.Arg997His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277679.1",
"strand": false,
"transcript": "XM_047421723.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 849,
"aa_ref": "R",
"aa_start": 626,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3882,
"cdna_start": 1925,
"cds_end": null,
"cds_length": 2550,
"cds_start": 1877,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_011516996.4",
"gene_hgnc_id": 30123,
"gene_symbol": "ATAD2",
"hgvs_c": "c.1877G>A",
"hgvs_p": "p.Arg626His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011515298.1",
"strand": false,
"transcript": "XM_011516996.4",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 832,
"aa_ref": "R",
"aa_start": 609,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3803,
"cdna_start": 1846,
"cds_end": null,
"cds_length": 2499,
"cds_start": 1826,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047421724.1",
"gene_hgnc_id": 30123,
"gene_symbol": "ATAD2",
"hgvs_c": "c.1826G>A",
"hgvs_p": "p.Arg609His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277680.1",
"strand": false,
"transcript": "XM_047421724.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1260,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5157,
"cdna_start": null,
"cds_end": null,
"cds_length": 3783,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011516994.4",
"gene_hgnc_id": 30123,
"gene_symbol": "ATAD2",
"hgvs_c": "c.3479-2532G>A",
"hgvs_p": null,
"intron_rank": 24,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011515296.1",
"strand": false,
"transcript": "XM_011516994.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4995,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000517666.5",
"gene_hgnc_id": 30123,
"gene_symbol": "ATAD2",
"hgvs_c": "n.*3135-2532G>A",
"hgvs_p": null,
"intron_rank": 23,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000429331.1",
"strand": false,
"transcript": "ENST00000517666.5",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs199726058",
"effect": "missense_variant",
"frequency_reference_population": 0.000024790455,
"gene_hgnc_id": 30123,
"gene_symbol": "ATAD2",
"gnomad_exomes_ac": 37,
"gnomad_exomes_af": 0.0000267947,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 1,
"gnomad_genomes_af": 0.00000657981,
"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": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.902,
"pos": 123328558,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.227,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_014109.4"
}
]
}