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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: 8-123322970-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=123322970&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 123322970,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_014109.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD2",
"gene_hgnc_id": 30123,
"hgvs_c": "c.4099C>T",
"hgvs_p": "p.Arg1367Cys",
"transcript": "NM_014109.4",
"protein_id": "NP_054828.2",
"transcript_support_level": null,
"aa_start": 1367,
"aa_end": null,
"aa_length": 1390,
"cds_start": 4099,
"cds_end": null,
"cds_length": 4173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000287394.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014109.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD2",
"gene_hgnc_id": 30123,
"hgvs_c": "c.4099C>T",
"hgvs_p": "p.Arg1367Cys",
"transcript": "ENST00000287394.10",
"protein_id": "ENSP00000287394.5",
"transcript_support_level": 1,
"aa_start": 1367,
"aa_end": null,
"aa_length": 1390,
"cds_start": 4099,
"cds_end": null,
"cds_length": 4173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014109.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000287394.10"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD2",
"gene_hgnc_id": 30123,
"hgvs_c": "c.2053C>T",
"hgvs_p": "p.Arg685Cys",
"transcript": "ENST00000521903.5",
"protein_id": "ENSP00000429213.1",
"transcript_support_level": 1,
"aa_start": 685,
"aa_end": null,
"aa_length": 708,
"cds_start": 2053,
"cds_end": null,
"cds_length": 2127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000521903.5"
},
{
"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": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD2",
"gene_hgnc_id": 30123,
"hgvs_c": "n.*3909C>T",
"hgvs_p": null,
"transcript": "ENST00000519124.5",
"protein_id": "ENSP00000429617.1",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000519124.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD2",
"gene_hgnc_id": 30123,
"hgvs_c": "n.*3909C>T",
"hgvs_p": null,
"transcript": "ENST00000519124.5",
"protein_id": "ENSP00000429617.1",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000519124.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD2",
"gene_hgnc_id": 30123,
"hgvs_c": "c.3667C>T",
"hgvs_p": "p.Arg1223Cys",
"transcript": "ENST00000915701.1",
"protein_id": "ENSP00000585760.1",
"transcript_support_level": null,
"aa_start": 1223,
"aa_end": null,
"aa_length": 1246,
"cds_start": 3667,
"cds_end": null,
"cds_length": 3741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915701.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD2",
"gene_hgnc_id": 30123,
"hgvs_c": "c.3373C>T",
"hgvs_p": "p.Arg1125Cys",
"transcript": "ENST00000915700.1",
"protein_id": "ENSP00000585759.1",
"transcript_support_level": null,
"aa_start": 1125,
"aa_end": null,
"aa_length": 1148,
"cds_start": 3373,
"cds_end": null,
"cds_length": 3447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915700.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD2",
"gene_hgnc_id": 30123,
"hgvs_c": "c.1552C>T",
"hgvs_p": "p.Arg518Cys",
"transcript": "ENST00000915699.1",
"protein_id": "ENSP00000585758.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 541,
"cds_start": 1552,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915699.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD2",
"gene_hgnc_id": 30123,
"hgvs_c": "c.3709C>T",
"hgvs_p": "p.Arg1237Cys",
"transcript": "XM_011516994.4",
"protein_id": "XP_011515296.1",
"transcript_support_level": null,
"aa_start": 1237,
"aa_end": null,
"aa_length": 1260,
"cds_start": 3709,
"cds_end": null,
"cds_length": 3783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011516994.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD2",
"gene_hgnc_id": 30123,
"hgvs_c": "c.3589C>T",
"hgvs_p": "p.Arg1197Cys",
"transcript": "XM_047421722.1",
"protein_id": "XP_047277678.1",
"transcript_support_level": null,
"aa_start": 1197,
"aa_end": null,
"aa_length": 1220,
"cds_start": 3589,
"cds_end": null,
"cds_length": 3663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421722.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD2",
"gene_hgnc_id": 30123,
"hgvs_c": "c.3589C>T",
"hgvs_p": "p.Arg1197Cys",
"transcript": "XM_047421723.1",
"protein_id": "XP_047277679.1",
"transcript_support_level": null,
"aa_start": 1197,
"aa_end": null,
"aa_length": 1220,
"cds_start": 3589,
"cds_end": null,
"cds_length": 3663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421723.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD2",
"gene_hgnc_id": 30123,
"hgvs_c": "c.2476C>T",
"hgvs_p": "p.Arg826Cys",
"transcript": "XM_011516996.4",
"protein_id": "XP_011515298.1",
"transcript_support_level": null,
"aa_start": 826,
"aa_end": null,
"aa_length": 849,
"cds_start": 2476,
"cds_end": null,
"cds_length": 2550,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011516996.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD2",
"gene_hgnc_id": 30123,
"hgvs_c": "c.2425C>T",
"hgvs_p": "p.Arg809Cys",
"transcript": "XM_047421724.1",
"protein_id": "XP_047277680.1",
"transcript_support_level": null,
"aa_start": 809,
"aa_end": null,
"aa_length": 832,
"cds_start": 2425,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421724.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "ATAD2",
"gene_hgnc_id": 30123,
"hgvs_c": "c.4003-1795C>T",
"hgvs_p": null,
"transcript": "ENST00000962834.1",
"protein_id": "ENSP00000632893.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1347,
"cds_start": null,
"cds_end": null,
"cds_length": 4044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962834.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD2",
"gene_hgnc_id": 30123,
"hgvs_c": "n.*3365C>T",
"hgvs_p": null,
"transcript": "ENST00000517666.5",
"protein_id": "ENSP00000429331.1",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000517666.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATAD2",
"gene_hgnc_id": 30123,
"hgvs_c": "n.*3365C>T",
"hgvs_p": null,
"transcript": "ENST00000517666.5",
"protein_id": "ENSP00000429331.1",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000517666.5"
}
],
"gene_symbol": "ATAD2",
"gene_hgnc_id": 30123,
"dbsnp": "rs1180402683",
"frequency_reference_population": 0.0000049576615,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000478965,
"gnomad_genomes_af": 0.00000657117,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9586595296859741,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.847,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.4025,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.55,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.345,
"phylop100way_prediction": "Uncertain_significance",
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_014109.4",
"gene_symbol": "ATAD2",
"hgnc_id": 30123,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.4099C>T",
"hgvs_p": "p.Arg1367Cys"
}
],
"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
}