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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: 22-23766263-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=23766263&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CHCHD10",
"hgnc_id": 15559,
"hgvs_c": "c.295G>C",
"hgvs_p": "p.Ala99Pro",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001301339.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong",
"acmg_score": -12,
"allele_count_reference_population": null,
"alphamissense_prediction": null,
"alphamissense_score": 0.0732,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.63,
"chr": "22",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "Inborn genetic diseases,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.002587348222732544,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 142,
"aa_ref": "A",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 700,
"cdna_start": 372,
"cds_end": null,
"cds_length": 429,
"cds_start": 274,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_213720.3",
"gene_hgnc_id": 15559,
"gene_symbol": "CHCHD10",
"hgvs_c": "c.274G>C",
"hgvs_p": "p.Ala92Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000484558.3",
"protein_coding": true,
"protein_id": "NP_998885.1",
"strand": false,
"transcript": "NM_213720.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 142,
"aa_ref": "A",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 700,
"cdna_start": 372,
"cds_end": null,
"cds_length": 429,
"cds_start": 274,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000484558.3",
"gene_hgnc_id": 15559,
"gene_symbol": "CHCHD10",
"hgvs_c": "c.274G>C",
"hgvs_p": "p.Ala92Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_213720.3",
"protein_coding": true,
"protein_id": "ENSP00000418428.3",
"strand": false,
"transcript": "ENST00000484558.3",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 163,
"aa_ref": "A",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 762,
"cdna_start": 435,
"cds_end": null,
"cds_length": 492,
"cds_start": 337,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000878118.1",
"gene_hgnc_id": 15559,
"gene_symbol": "CHCHD10",
"hgvs_c": "c.337G>C",
"hgvs_p": "p.Ala113Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548177.1",
"strand": false,
"transcript": "ENST00000878118.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 150,
"aa_ref": "A",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 691,
"cdna_start": 342,
"cds_end": null,
"cds_length": 453,
"cds_start": 274,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000878120.1",
"gene_hgnc_id": 15559,
"gene_symbol": "CHCHD10",
"hgvs_c": "c.274G>C",
"hgvs_p": "p.Ala92Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548179.1",
"strand": false,
"transcript": "ENST00000878120.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 149,
"aa_ref": "A",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 721,
"cdna_start": 393,
"cds_end": null,
"cds_length": 450,
"cds_start": 295,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001301339.2",
"gene_hgnc_id": 15559,
"gene_symbol": "CHCHD10",
"hgvs_c": "c.295G>C",
"hgvs_p": "p.Ala99Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001288268.1",
"strand": false,
"transcript": "NM_001301339.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 149,
"aa_ref": "A",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 691,
"cdna_start": 363,
"cds_end": null,
"cds_length": 450,
"cds_start": 295,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000401675.7",
"gene_hgnc_id": 15559,
"gene_symbol": "CHCHD10",
"hgvs_c": "c.295G>C",
"hgvs_p": "p.Ala99Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384973.3",
"strand": false,
"transcript": "ENST00000401675.7",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 55,
"aa_ref": "P",
"aa_start": 18,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 384,
"cdna_start": 56,
"cds_end": null,
"cds_length": 168,
"cds_start": 54,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000520222.1",
"gene_hgnc_id": 15559,
"gene_symbol": "CHCHD10",
"hgvs_c": "c.54G>C",
"hgvs_p": "p.Pro18Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000430042.1",
"strand": false,
"transcript": "ENST00000520222.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 134,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 686,
"cdna_start": null,
"cds_end": null,
"cds_length": 405,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000878116.1",
"gene_hgnc_id": 15559,
"gene_symbol": "CHCHD10",
"hgvs_c": "c.262-12G>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548175.1",
"strand": false,
"transcript": "ENST00000878116.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 131,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 634,
"cdna_start": null,
"cds_end": null,
"cds_length": 396,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000878121.1",
"gene_hgnc_id": 15559,
"gene_symbol": "CHCHD10",
"hgvs_c": "c.262-21G>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548180.1",
"strand": false,
"transcript": "ENST00000878121.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 121,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 607,
"cdna_start": null,
"cds_end": null,
"cds_length": 366,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000878119.1",
"gene_hgnc_id": 15559,
"gene_symbol": "CHCHD10",
"hgvs_c": "c.262-51G>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548178.1",
"strand": false,
"transcript": "ENST00000878119.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 113,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 613,
"cdna_start": null,
"cds_end": null,
"cds_length": 342,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000878117.1",
"gene_hgnc_id": 15559,
"gene_symbol": "CHCHD10",
"hgvs_c": "c.262-75G>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548176.1",
"strand": false,
"transcript": "ENST00000878117.1",
"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": 494,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000517886.1",
"gene_hgnc_id": 15559,
"gene_symbol": "CHCHD10",
"hgvs_c": "n.221G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000429976.1",
"strand": false,
"transcript": "ENST00000517886.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 490,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000523865.1",
"gene_hgnc_id": 15559,
"gene_symbol": "CHCHD10",
"hgvs_c": "n.202G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000523865.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 647,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NR_125755.2",
"gene_hgnc_id": 15559,
"gene_symbol": "CHCHD10",
"hgvs_c": "n.319G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_125755.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 480,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NR_125756.2",
"gene_hgnc_id": 15559,
"gene_symbol": "CHCHD10",
"hgvs_c": "n.152G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_125756.2",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs374353973",
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 15559,
"gene_symbol": "CHCHD10",
"gnomad_exomes_ac": 63389,
"gnomad_exomes_af": 0.0980289,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 116,
"gnomad_genomes_af": 0.0014665,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": null,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign/Likely benign",
"phenotype_combined": "not provided|Inborn genetic diseases",
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.886,
"pos": 23766263,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.006,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.1599999964237213,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.16,
"transcript": "NM_001301339.2"
}
]
}