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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: 22-23766134-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=23766134&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 23766134,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001301339.2",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHCHD10",
"gene_hgnc_id": 15559,
"hgvs_c": "c.403T>C",
"hgvs_p": "p.Tyr135His",
"transcript": "NM_213720.3",
"protein_id": "NP_998885.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 142,
"cds_start": 403,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000484558.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_213720.3"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHCHD10",
"gene_hgnc_id": 15559,
"hgvs_c": "c.403T>C",
"hgvs_p": "p.Tyr135His",
"transcript": "ENST00000484558.3",
"protein_id": "ENSP00000418428.3",
"transcript_support_level": 1,
"aa_start": 135,
"aa_end": null,
"aa_length": 142,
"cds_start": 403,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_213720.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000484558.3"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHCHD10",
"gene_hgnc_id": 15559,
"hgvs_c": "c.466T>C",
"hgvs_p": "p.Tyr156His",
"transcript": "ENST00000878118.1",
"protein_id": "ENSP00000548177.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 163,
"cds_start": 466,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878118.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHCHD10",
"gene_hgnc_id": 15559,
"hgvs_c": "c.403T>C",
"hgvs_p": "p.Tyr135His",
"transcript": "ENST00000878120.1",
"protein_id": "ENSP00000548179.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 150,
"cds_start": 403,
"cds_end": null,
"cds_length": 453,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878120.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHCHD10",
"gene_hgnc_id": 15559,
"hgvs_c": "c.424T>C",
"hgvs_p": "p.Tyr142His",
"transcript": "NM_001301339.2",
"protein_id": "NP_001288268.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 149,
"cds_start": 424,
"cds_end": null,
"cds_length": 450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001301339.2"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHCHD10",
"gene_hgnc_id": 15559,
"hgvs_c": "c.424T>C",
"hgvs_p": "p.Tyr142His",
"transcript": "ENST00000401675.7",
"protein_id": "ENSP00000384973.3",
"transcript_support_level": 5,
"aa_start": 142,
"aa_end": null,
"aa_length": 149,
"cds_start": 424,
"cds_end": null,
"cds_length": 450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000401675.7"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHCHD10",
"gene_hgnc_id": 15559,
"hgvs_c": "c.379T>C",
"hgvs_p": "p.Tyr127His",
"transcript": "ENST00000878116.1",
"protein_id": "ENSP00000548175.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 134,
"cds_start": 379,
"cds_end": null,
"cds_length": 405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878116.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHCHD10",
"gene_hgnc_id": 15559,
"hgvs_c": "c.370T>C",
"hgvs_p": "p.Tyr124His",
"transcript": "ENST00000878121.1",
"protein_id": "ENSP00000548180.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 131,
"cds_start": 370,
"cds_end": null,
"cds_length": 396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878121.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHCHD10",
"gene_hgnc_id": 15559,
"hgvs_c": "c.340T>C",
"hgvs_p": "p.Tyr114His",
"transcript": "ENST00000878119.1",
"protein_id": "ENSP00000548178.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 121,
"cds_start": 340,
"cds_end": null,
"cds_length": 366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878119.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHCHD10",
"gene_hgnc_id": 15559,
"hgvs_c": "c.316T>C",
"hgvs_p": "p.Tyr106His",
"transcript": "ENST00000878117.1",
"protein_id": "ENSP00000548176.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 113,
"cds_start": 316,
"cds_end": null,
"cds_length": 342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878117.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHCHD10",
"gene_hgnc_id": 15559,
"hgvs_c": "c.*15T>C",
"hgvs_p": null,
"transcript": "ENST00000520222.1",
"protein_id": "ENSP00000430042.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 55,
"cds_start": null,
"cds_end": null,
"cds_length": 168,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520222.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHCHD10",
"gene_hgnc_id": 15559,
"hgvs_c": "n.*50T>C",
"hgvs_p": null,
"transcript": "ENST00000517886.1",
"protein_id": "ENSP00000429976.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000517886.1"
},
{
"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": "CHCHD10",
"gene_hgnc_id": 15559,
"hgvs_c": "n.331T>C",
"hgvs_p": null,
"transcript": "ENST00000523865.1",
"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": "retained_intron",
"feature": "ENST00000523865.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHCHD10",
"gene_hgnc_id": 15559,
"hgvs_c": "n.448T>C",
"hgvs_p": null,
"transcript": "NR_125755.2",
"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_125755.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHCHD10",
"gene_hgnc_id": 15559,
"hgvs_c": "n.281T>C",
"hgvs_p": null,
"transcript": "NR_125756.2",
"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_125756.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHCHD10",
"gene_hgnc_id": 15559,
"hgvs_c": "n.*50T>C",
"hgvs_p": null,
"transcript": "ENST00000517886.1",
"protein_id": "ENSP00000429976.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000517886.1"
}
],
"gene_symbol": "CHCHD10",
"gene_hgnc_id": 15559,
"dbsnp": "rs145649831",
"frequency_reference_population": 0.00041399963,
"hom_count_reference_population": 1,
"allele_count_reference_population": 668,
"gnomad_exomes_af": 0.000425612,
"gnomad_genomes_af": 0.000302425,
"gnomad_exomes_ac": 622,
"gnomad_genomes_ac": 46,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.009326159954071045,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.126,
"revel_prediction": "Benign",
"alphamissense_score": 0.0846,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.68,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.715,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001301339.2",
"gene_symbol": "CHCHD10",
"hgnc_id": 15559,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.424T>C",
"hgvs_p": "p.Tyr142His"
}
],
"clinvar_disease": "Autosomal dominant mitochondrial myopathy with exercise intolerance,CHCHD10-related disorder,Frontotemporal dementia and/or amyotrophic lateral sclerosis 2,Inborn genetic diseases,Lower motor neuron syndrome with late-adult onset,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:4 B:1",
"phenotype_combined": "Lower motor neuron syndrome with late-adult onset;Autosomal dominant mitochondrial myopathy with exercise intolerance;Frontotemporal dementia and/or amyotrophic lateral sclerosis 2|Inborn genetic diseases|CHCHD10-related disorder|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}