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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: 8-42966515-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=42966515&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 42966515,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_032410.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOOK3",
"gene_hgnc_id": 23576,
"hgvs_c": "c.822G>C",
"hgvs_p": "p.Glu274Asp",
"transcript": "NM_032410.4",
"protein_id": "NP_115786.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 718,
"cds_start": 822,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000307602.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032410.4"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOOK3",
"gene_hgnc_id": 23576,
"hgvs_c": "c.822G>C",
"hgvs_p": "p.Glu274Asp",
"transcript": "ENST00000307602.9",
"protein_id": "ENSP00000305699.3",
"transcript_support_level": 1,
"aa_start": 274,
"aa_end": null,
"aa_length": 718,
"cds_start": 822,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032410.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000307602.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOOK3",
"gene_hgnc_id": 23576,
"hgvs_c": "n.1008G>C",
"hgvs_p": null,
"transcript": "ENST00000527306.1",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000527306.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOOK3",
"gene_hgnc_id": 23576,
"hgvs_c": "c.858G>C",
"hgvs_p": "p.Glu286Asp",
"transcript": "ENST00000862681.1",
"protein_id": "ENSP00000532740.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 730,
"cds_start": 858,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862681.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOOK3",
"gene_hgnc_id": 23576,
"hgvs_c": "c.822G>C",
"hgvs_p": "p.Glu274Asp",
"transcript": "ENST00000533539.2",
"protein_id": "ENSP00000433953.2",
"transcript_support_level": 3,
"aa_start": 274,
"aa_end": null,
"aa_length": 720,
"cds_start": 822,
"cds_end": null,
"cds_length": 2163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533539.2"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOOK3",
"gene_hgnc_id": 23576,
"hgvs_c": "c.771G>C",
"hgvs_p": "p.Glu257Asp",
"transcript": "ENST00000862680.1",
"protein_id": "ENSP00000532739.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 701,
"cds_start": 771,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862680.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOOK3",
"gene_hgnc_id": 23576,
"hgvs_c": "c.759G>C",
"hgvs_p": "p.Glu253Asp",
"transcript": "ENST00000862682.1",
"protein_id": "ENSP00000532741.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 697,
"cds_start": 759,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862682.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOOK3",
"gene_hgnc_id": 23576,
"hgvs_c": "c.822G>C",
"hgvs_p": "p.Glu274Asp",
"transcript": "ENST00000862679.1",
"protein_id": "ENSP00000532738.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 677,
"cds_start": 822,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862679.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOOK3",
"gene_hgnc_id": 23576,
"hgvs_c": "c.822G>C",
"hgvs_p": "p.Glu274Asp",
"transcript": "ENST00000947883.1",
"protein_id": "ENSP00000617942.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 671,
"cds_start": 822,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947883.1"
}
],
"gene_symbol": "HOOK3",
"gene_hgnc_id": 23576,
"dbsnp": "rs773314997",
"frequency_reference_population": 0.000008208799,
"hom_count_reference_population": 0,
"allele_count_reference_population": 12,
"gnomad_exomes_af": 0.0000082088,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 12,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.32111215591430664,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.125,
"revel_prediction": "Benign",
"alphamissense_score": 0.1493,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.865,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP2,BP4,BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 5,
"pathogenic_score": 1,
"criteria": [
"PP2",
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_032410.4",
"gene_symbol": "HOOK3",
"hgnc_id": 23576,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.822G>C",
"hgvs_p": "p.Glu274Asp"
}
],
"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
}