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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: 8-42925567-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=42925567&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 42925567,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_032410.4",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOOK3",
"gene_hgnc_id": 23576,
"hgvs_c": "c.154T>C",
"hgvs_p": "p.Tyr52His",
"transcript": "NM_032410.4",
"protein_id": "NP_115786.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 718,
"cds_start": 154,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 308,
"cdna_end": null,
"cdna_length": 14348,
"mane_select": "ENST00000307602.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032410.4"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOOK3",
"gene_hgnc_id": 23576,
"hgvs_c": "c.154T>C",
"hgvs_p": "p.Tyr52His",
"transcript": "ENST00000307602.9",
"protein_id": "ENSP00000305699.3",
"transcript_support_level": 1,
"aa_start": 52,
"aa_end": null,
"aa_length": 718,
"cds_start": 154,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 308,
"cdna_end": null,
"cdna_length": 14348,
"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": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOOK3",
"gene_hgnc_id": 23576,
"hgvs_c": "n.340T>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": 2325,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000527306.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOOK3",
"gene_hgnc_id": 23576,
"hgvs_c": "c.154T>C",
"hgvs_p": "p.Tyr52His",
"transcript": "ENST00000862681.1",
"protein_id": "ENSP00000532740.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 730,
"cds_start": 154,
"cds_end": null,
"cds_length": 2193,
"cdna_start": 282,
"cdna_end": null,
"cdna_length": 3595,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862681.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOOK3",
"gene_hgnc_id": 23576,
"hgvs_c": "c.154T>C",
"hgvs_p": "p.Tyr52His",
"transcript": "ENST00000533539.2",
"protein_id": "ENSP00000433953.2",
"transcript_support_level": 3,
"aa_start": 52,
"aa_end": null,
"aa_length": 720,
"cds_start": 154,
"cds_end": null,
"cds_length": 2163,
"cdna_start": 308,
"cdna_end": null,
"cdna_length": 2577,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533539.2"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOOK3",
"gene_hgnc_id": 23576,
"hgvs_c": "c.154T>C",
"hgvs_p": "p.Tyr52His",
"transcript": "ENST00000862680.1",
"protein_id": "ENSP00000532739.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 701,
"cds_start": 154,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 370,
"cdna_end": null,
"cdna_length": 3601,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862680.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOOK3",
"gene_hgnc_id": 23576,
"hgvs_c": "c.154T>C",
"hgvs_p": "p.Tyr52His",
"transcript": "ENST00000862682.1",
"protein_id": "ENSP00000532741.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 697,
"cds_start": 154,
"cds_end": null,
"cds_length": 2094,
"cdna_start": 370,
"cdna_end": null,
"cdna_length": 3063,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862682.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOOK3",
"gene_hgnc_id": 23576,
"hgvs_c": "c.154T>C",
"hgvs_p": "p.Tyr52His",
"transcript": "ENST00000862679.1",
"protein_id": "ENSP00000532738.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 677,
"cds_start": 154,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 386,
"cdna_end": null,
"cdna_length": 3572,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862679.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOOK3",
"gene_hgnc_id": 23576,
"hgvs_c": "c.154T>C",
"hgvs_p": "p.Tyr52His",
"transcript": "ENST00000947883.1",
"protein_id": "ENSP00000617942.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 671,
"cds_start": 154,
"cds_end": null,
"cds_length": 2016,
"cdna_start": 319,
"cdna_end": null,
"cdna_length": 4784,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947883.1"
}
],
"gene_symbol": "HOOK3",
"gene_hgnc_id": 23576,
"dbsnp": "rs201428376",
"frequency_reference_population": 0.00015924263,
"hom_count_reference_population": 0,
"allele_count_reference_population": 255,
"gnomad_exomes_af": 0.000163554,
"gnomad_genomes_af": 0.000118213,
"gnomad_exomes_ac": 237,
"gnomad_genomes_ac": 18,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6336315870285034,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.37,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4599,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.804,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP2,BS2",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 4,
"pathogenic_score": 1,
"criteria": [
"PP2",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_032410.4",
"gene_symbol": "HOOK3",
"hgnc_id": 23576,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.154T>C",
"hgvs_p": "p.Tyr52His"
}
],
"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
}