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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: 9-19058413-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=19058413&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 19058413,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_017645.5",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAUS6",
"gene_hgnc_id": 25948,
"hgvs_c": "c.2354G>T",
"hgvs_p": "p.Gly785Val",
"transcript": "NM_017645.5",
"protein_id": "NP_060115.3",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
"aa_length": 955,
"cds_start": 2354,
"cds_end": null,
"cds_length": 2868,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000380502.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017645.5"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAUS6",
"gene_hgnc_id": 25948,
"hgvs_c": "c.2354G>T",
"hgvs_p": "p.Gly785Val",
"transcript": "ENST00000380502.8",
"protein_id": "ENSP00000369871.3",
"transcript_support_level": 1,
"aa_start": 785,
"aa_end": null,
"aa_length": 955,
"cds_start": 2354,
"cds_end": null,
"cds_length": 2868,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017645.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380502.8"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAUS6",
"gene_hgnc_id": 25948,
"hgvs_c": "c.2540G>T",
"hgvs_p": "p.Gly847Val",
"transcript": "ENST00000888740.1",
"protein_id": "ENSP00000558799.1",
"transcript_support_level": null,
"aa_start": 847,
"aa_end": null,
"aa_length": 1017,
"cds_start": 2540,
"cds_end": null,
"cds_length": 3054,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888740.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAUS6",
"gene_hgnc_id": 25948,
"hgvs_c": "c.2405G>T",
"hgvs_p": "p.Gly802Val",
"transcript": "ENST00000888738.1",
"protein_id": "ENSP00000558797.1",
"transcript_support_level": null,
"aa_start": 802,
"aa_end": null,
"aa_length": 972,
"cds_start": 2405,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888738.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAUS6",
"gene_hgnc_id": 25948,
"hgvs_c": "c.2249G>T",
"hgvs_p": "p.Gly750Val",
"transcript": "NM_001270890.2",
"protein_id": "NP_001257819.1",
"transcript_support_level": null,
"aa_start": 750,
"aa_end": null,
"aa_length": 920,
"cds_start": 2249,
"cds_end": null,
"cds_length": 2763,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270890.2"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAUS6",
"gene_hgnc_id": 25948,
"hgvs_c": "c.2183G>T",
"hgvs_p": "p.Gly728Val",
"transcript": "ENST00000888741.1",
"protein_id": "ENSP00000558800.1",
"transcript_support_level": null,
"aa_start": 728,
"aa_end": null,
"aa_length": 898,
"cds_start": 2183,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888741.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAUS6",
"gene_hgnc_id": 25948,
"hgvs_c": "c.2168G>T",
"hgvs_p": "p.Gly723Val",
"transcript": "ENST00000888739.1",
"protein_id": "ENSP00000558798.1",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
"aa_length": 893,
"cds_start": 2168,
"cds_end": null,
"cds_length": 2682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888739.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAUS6",
"gene_hgnc_id": 25948,
"hgvs_c": "c.1946G>T",
"hgvs_p": "p.Gly649Val",
"transcript": "ENST00000380496.5",
"protein_id": "ENSP00000369865.1",
"transcript_support_level": 2,
"aa_start": 649,
"aa_end": null,
"aa_length": 802,
"cds_start": 1946,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380496.5"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAUS6",
"gene_hgnc_id": 25948,
"hgvs_c": "c.1703G>T",
"hgvs_p": "p.Gly568Val",
"transcript": "XM_047423518.1",
"protein_id": "XP_047279474.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 738,
"cds_start": 1703,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423518.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAUS6",
"gene_hgnc_id": 25948,
"hgvs_c": "c.1061G>T",
"hgvs_p": "p.Gly354Val",
"transcript": "XM_011517935.3",
"protein_id": "XP_011516237.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 524,
"cds_start": 1061,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517935.3"
}
],
"gene_symbol": "HAUS6",
"gene_hgnc_id": 25948,
"dbsnp": "rs1324621378",
"frequency_reference_population": 6.845461e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84546e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.21774646639823914,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.058,
"revel_prediction": "Benign",
"alphamissense_score": 0.1964,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.255,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_017645.5",
"gene_symbol": "HAUS6",
"hgnc_id": 25948,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2354G>T",
"hgvs_p": "p.Gly785Val"
}
],
"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
}