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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: 2-23754682-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=23754682&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 23754682,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001354107.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD2B",
"gene_hgnc_id": 29230,
"hgvs_c": "c.4171G>C",
"hgvs_p": "p.Val1391Leu",
"transcript": "NM_017552.4",
"protein_id": "NP_060022.2",
"transcript_support_level": null,
"aa_start": 1391,
"aa_end": null,
"aa_length": 1458,
"cds_start": 4171,
"cds_end": null,
"cds_length": 4377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000238789.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017552.4"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD2B",
"gene_hgnc_id": 29230,
"hgvs_c": "c.4171G>C",
"hgvs_p": "p.Val1391Leu",
"transcript": "ENST00000238789.10",
"protein_id": "ENSP00000238789.5",
"transcript_support_level": 5,
"aa_start": 1391,
"aa_end": null,
"aa_length": 1458,
"cds_start": 4171,
"cds_end": null,
"cds_length": 4377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017552.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000238789.10"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD2B",
"gene_hgnc_id": 29230,
"hgvs_c": "c.1996G>C",
"hgvs_p": "p.Val666Leu",
"transcript": "ENST00000381024.4",
"protein_id": "ENSP00000370412.4",
"transcript_support_level": 1,
"aa_start": 666,
"aa_end": null,
"aa_length": 733,
"cds_start": 1996,
"cds_end": null,
"cds_length": 2202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381024.4"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD2B",
"gene_hgnc_id": 29230,
"hgvs_c": "c.4198G>C",
"hgvs_p": "p.Val1400Leu",
"transcript": "NM_001354107.2",
"protein_id": "NP_001341036.1",
"transcript_support_level": null,
"aa_start": 1400,
"aa_end": null,
"aa_length": 1467,
"cds_start": 4198,
"cds_end": null,
"cds_length": 4404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354107.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD2B",
"gene_hgnc_id": 29230,
"hgvs_c": "c.4156G>C",
"hgvs_p": "p.Val1386Leu",
"transcript": "NM_001242338.3",
"protein_id": "NP_001229267.2",
"transcript_support_level": null,
"aa_start": 1386,
"aa_end": null,
"aa_length": 1453,
"cds_start": 4156,
"cds_end": null,
"cds_length": 4362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242338.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD2B",
"gene_hgnc_id": 29230,
"hgvs_c": "c.4117G>C",
"hgvs_p": "p.Val1373Leu",
"transcript": "ENST00000925212.1",
"protein_id": "ENSP00000595271.1",
"transcript_support_level": null,
"aa_start": 1373,
"aa_end": null,
"aa_length": 1440,
"cds_start": 4117,
"cds_end": null,
"cds_length": 4323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925212.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD2B",
"gene_hgnc_id": 29230,
"hgvs_c": "c.3901G>C",
"hgvs_p": "p.Val1301Leu",
"transcript": "ENST00000925213.1",
"protein_id": "ENSP00000595272.1",
"transcript_support_level": null,
"aa_start": 1301,
"aa_end": null,
"aa_length": 1368,
"cds_start": 3901,
"cds_end": null,
"cds_length": 4107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925213.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD2B",
"gene_hgnc_id": 29230,
"hgvs_c": "c.3886G>C",
"hgvs_p": "p.Val1296Leu",
"transcript": "ENST00000925211.1",
"protein_id": "ENSP00000595270.1",
"transcript_support_level": null,
"aa_start": 1296,
"aa_end": null,
"aa_length": 1363,
"cds_start": 3886,
"cds_end": null,
"cds_length": 4092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925211.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD2B",
"gene_hgnc_id": 29230,
"hgvs_c": "c.3487G>C",
"hgvs_p": "p.Val1163Leu",
"transcript": "ENST00000925214.1",
"protein_id": "ENSP00000595273.1",
"transcript_support_level": null,
"aa_start": 1163,
"aa_end": null,
"aa_length": 1230,
"cds_start": 3487,
"cds_end": null,
"cds_length": 3693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925214.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD2B",
"gene_hgnc_id": 29230,
"hgvs_c": "c.4156G>C",
"hgvs_p": "p.Val1386Leu",
"transcript": "XM_047444799.1",
"protein_id": "XP_047300755.1",
"transcript_support_level": null,
"aa_start": 1386,
"aa_end": null,
"aa_length": 1522,
"cds_start": 4156,
"cds_end": null,
"cds_length": 4569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444799.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD2B",
"gene_hgnc_id": 29230,
"hgvs_c": "c.4213G>C",
"hgvs_p": "p.Val1405Leu",
"transcript": "XM_011532918.4",
"protein_id": "XP_011531220.1",
"transcript_support_level": null,
"aa_start": 1405,
"aa_end": null,
"aa_length": 1511,
"cds_start": 4213,
"cds_end": null,
"cds_length": 4536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532918.4"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD2B",
"gene_hgnc_id": 29230,
"hgvs_c": "c.4198G>C",
"hgvs_p": "p.Val1400Leu",
"transcript": "XM_011532919.4",
"protein_id": "XP_011531221.1",
"transcript_support_level": null,
"aa_start": 1400,
"aa_end": null,
"aa_length": 1506,
"cds_start": 4198,
"cds_end": null,
"cds_length": 4521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532919.4"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD2B",
"gene_hgnc_id": 29230,
"hgvs_c": "c.4171G>C",
"hgvs_p": "p.Val1391Leu",
"transcript": "XM_011532920.4",
"protein_id": "XP_011531222.1",
"transcript_support_level": null,
"aa_start": 1391,
"aa_end": null,
"aa_length": 1497,
"cds_start": 4171,
"cds_end": null,
"cds_length": 4494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532920.4"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD2B",
"gene_hgnc_id": 29230,
"hgvs_c": "c.4213G>C",
"hgvs_p": "p.Val1405Leu",
"transcript": "XM_005264372.5",
"protein_id": "XP_005264429.2",
"transcript_support_level": null,
"aa_start": 1405,
"aa_end": null,
"aa_length": 1472,
"cds_start": 4213,
"cds_end": null,
"cds_length": 4419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005264372.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD2B",
"gene_hgnc_id": 29230,
"hgvs_c": "c.4213G>C",
"hgvs_p": "p.Val1405Leu",
"transcript": "XM_006712030.5",
"protein_id": "XP_006712093.1",
"transcript_support_level": null,
"aa_start": 1405,
"aa_end": null,
"aa_length": 1460,
"cds_start": 4213,
"cds_end": null,
"cds_length": 4383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712030.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD2B",
"gene_hgnc_id": 29230,
"hgvs_c": "n.3316G>C",
"hgvs_p": null,
"transcript": "ENST00000474583.5",
"protein_id": null,
"transcript_support_level": 2,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000474583.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD2B",
"gene_hgnc_id": 29230,
"hgvs_c": "n.411G>C",
"hgvs_p": null,
"transcript": "ENST00000486610.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000486610.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD2B",
"gene_hgnc_id": 29230,
"hgvs_c": "n.4593G>C",
"hgvs_p": null,
"transcript": "NR_125717.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_125717.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD2B",
"gene_hgnc_id": 29230,
"hgvs_c": "n.4566G>C",
"hgvs_p": null,
"transcript": "XR_001738780.3",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001738780.3"
}
],
"gene_symbol": "ATAD2B",
"gene_hgnc_id": 29230,
"dbsnp": "rs200259678",
"frequency_reference_population": 0.000060138256,
"hom_count_reference_population": 0,
"allele_count_reference_population": 97,
"gnomad_exomes_af": 0.0000376506,
"gnomad_genomes_af": 0.000276047,
"gnomad_exomes_ac": 55,
"gnomad_genomes_ac": 42,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.020785808563232422,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.252,
"revel_prediction": "Benign",
"alphamissense_score": 0.0865,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.517,
"phylop100way_prediction": "Benign",
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001354107.2",
"gene_symbol": "ATAD2B",
"hgnc_id": 29230,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.4198G>C",
"hgvs_p": "p.Val1400Leu"
}
],
"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
}