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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: 17-38733306-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=38733306&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 8,
"criteria": [
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CISD3",
"hgnc_id": 27578,
"hgvs_c": "c.235C>T",
"hgvs_p": "p.Arg79Cys",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -8,
"transcript": "NM_001136498.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BA1",
"acmg_score": -8,
"allele_count_reference_population": 339677,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.3341,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.31,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0014499127864837646,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 127,
"aa_ref": "R",
"aa_start": 79,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2552,
"cdna_start": 253,
"cds_end": null,
"cds_length": 384,
"cds_start": 235,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001136498.2",
"gene_hgnc_id": 27578,
"gene_symbol": "CISD3",
"hgvs_c": "c.235C>T",
"hgvs_p": "p.Arg79Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000613478.2",
"protein_coding": true,
"protein_id": "NP_001129970.1",
"strand": true,
"transcript": "NM_001136498.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 127,
"aa_ref": "R",
"aa_start": 79,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2552,
"cdna_start": 253,
"cds_end": null,
"cds_length": 384,
"cds_start": 235,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000613478.2",
"gene_hgnc_id": 27578,
"gene_symbol": "CISD3",
"hgvs_c": "c.235C>T",
"hgvs_p": "p.Arg79Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001136498.2",
"protein_coding": true,
"protein_id": "ENSP00000483781.1",
"strand": true,
"transcript": "ENST00000613478.2",
"transcript_support_level": 2
},
{
"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": 2326,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000619858.1",
"gene_hgnc_id": 27578,
"gene_symbol": "CISD3",
"hgvs_c": "n.588C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000619858.1",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 147,
"aa_ref": "R",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2051,
"cdna_start": 336,
"cds_end": null,
"cds_length": 444,
"cds_start": 295,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000894448.1",
"gene_hgnc_id": 27578,
"gene_symbol": "CISD3",
"hgvs_c": "c.295C>T",
"hgvs_p": "p.Arg99Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564507.1",
"strand": true,
"transcript": "ENST00000894448.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 115,
"aa_ref": "R",
"aa_start": 67,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 600,
"cdna_start": 217,
"cds_end": null,
"cds_length": 348,
"cds_start": 199,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000894450.1",
"gene_hgnc_id": 27578,
"gene_symbol": "CISD3",
"hgvs_c": "c.199C>T",
"hgvs_p": "p.Arg67Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564509.1",
"strand": true,
"transcript": "ENST00000894450.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 87,
"aa_ref": "R",
"aa_start": 39,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1881,
"cdna_start": 132,
"cds_end": null,
"cds_length": 264,
"cds_start": 115,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000939173.1",
"gene_hgnc_id": 27578,
"gene_symbol": "CISD3",
"hgvs_c": "c.115C>T",
"hgvs_p": "p.Arg39Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609232.1",
"strand": true,
"transcript": "ENST00000939173.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 75,
"aa_ref": "R",
"aa_start": 27,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 484,
"cdna_start": 101,
"cds_end": null,
"cds_length": 228,
"cds_start": 79,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000894449.1",
"gene_hgnc_id": 27578,
"gene_symbol": "CISD3",
"hgvs_c": "c.79C>T",
"hgvs_p": "p.Arg27Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564508.1",
"strand": true,
"transcript": "ENST00000894449.1",
"transcript_support_level": null
},
{
"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": 773,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000616128.1",
"gene_hgnc_id": 27578,
"gene_symbol": "CISD3",
"hgvs_c": "n.364C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000616128.1",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs2879097",
"effect": "missense_variant",
"frequency_reference_population": 0.2189422,
"gene_hgnc_id": 27578,
"gene_symbol": "CISD3",
"gnomad_exomes_ac": 312346,
"gnomad_exomes_af": 0.223233,
"gnomad_exomes_homalt": 36321,
"gnomad_genomes_ac": 27331,
"gnomad_genomes_af": 0.179507,
"gnomad_genomes_homalt": 2889,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 39210,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.996,
"pos": 38733306,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.086,
"splice_prediction_selected": "Uncertain_significance",
"splice_score_selected": 0.23999999463558197,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Uncertain_significance",
"spliceai_max_score": 0.24,
"transcript": "NM_001136498.2"
}
]
}