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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: 10-98257696-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=98257696&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 98257696,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_032211.7",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXL4",
"gene_hgnc_id": 17171,
"hgvs_c": "c.1214A>G",
"hgvs_p": "p.Asp405Gly",
"transcript": "NM_032211.7",
"protein_id": "NP_115587.6",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 756,
"cds_start": 1214,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000260702.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032211.7"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXL4",
"gene_hgnc_id": 17171,
"hgvs_c": "c.1214A>G",
"hgvs_p": "p.Asp405Gly",
"transcript": "ENST00000260702.4",
"protein_id": "ENSP00000260702.3",
"transcript_support_level": 1,
"aa_start": 405,
"aa_end": null,
"aa_length": 756,
"cds_start": 1214,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032211.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000260702.4"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXL4",
"gene_hgnc_id": 17171,
"hgvs_c": "c.1214A>G",
"hgvs_p": "p.Asp405Gly",
"transcript": "ENST00000905881.1",
"protein_id": "ENSP00000575940.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 765,
"cds_start": 1214,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905881.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXL4",
"gene_hgnc_id": 17171,
"hgvs_c": "c.1214A>G",
"hgvs_p": "p.Asp405Gly",
"transcript": "ENST00000958239.1",
"protein_id": "ENSP00000628298.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 765,
"cds_start": 1214,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958239.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXL4",
"gene_hgnc_id": 17171,
"hgvs_c": "c.1217A>G",
"hgvs_p": "p.Asp406Gly",
"transcript": "ENST00000905879.1",
"protein_id": "ENSP00000575938.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 757,
"cds_start": 1217,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905879.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXL4",
"gene_hgnc_id": 17171,
"hgvs_c": "c.1217A>G",
"hgvs_p": "p.Asp406Gly",
"transcript": "ENST00000905880.1",
"protein_id": "ENSP00000575939.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 757,
"cds_start": 1217,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905880.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXL4",
"gene_hgnc_id": 17171,
"hgvs_c": "c.1214A>G",
"hgvs_p": "p.Asp405Gly",
"transcript": "ENST00000905878.1",
"protein_id": "ENSP00000575937.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 756,
"cds_start": 1214,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905878.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXL4",
"gene_hgnc_id": 17171,
"hgvs_c": "c.1214A>G",
"hgvs_p": "p.Asp405Gly",
"transcript": "ENST00000905886.1",
"protein_id": "ENSP00000575945.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 756,
"cds_start": 1214,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905886.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXL4",
"gene_hgnc_id": 17171,
"hgvs_c": "c.1214A>G",
"hgvs_p": "p.Asp405Gly",
"transcript": "ENST00000905887.1",
"protein_id": "ENSP00000575946.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 756,
"cds_start": 1214,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905887.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXL4",
"gene_hgnc_id": 17171,
"hgvs_c": "c.1214A>G",
"hgvs_p": "p.Asp405Gly",
"transcript": "ENST00000958236.1",
"protein_id": "ENSP00000628295.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 756,
"cds_start": 1214,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958236.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXL4",
"gene_hgnc_id": 17171,
"hgvs_c": "c.1175A>G",
"hgvs_p": "p.Asp392Gly",
"transcript": "ENST00000905883.1",
"protein_id": "ENSP00000575942.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 743,
"cds_start": 1175,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905883.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXL4",
"gene_hgnc_id": 17171,
"hgvs_c": "c.1175A>G",
"hgvs_p": "p.Asp392Gly",
"transcript": "ENST00000958237.1",
"protein_id": "ENSP00000628296.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 726,
"cds_start": 1175,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958237.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXL4",
"gene_hgnc_id": 17171,
"hgvs_c": "c.1055A>G",
"hgvs_p": "p.Asp352Gly",
"transcript": "ENST00000905882.1",
"protein_id": "ENSP00000575941.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 703,
"cds_start": 1055,
"cds_end": null,
"cds_length": 2112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905882.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXL4",
"gene_hgnc_id": 17171,
"hgvs_c": "c.1214A>G",
"hgvs_p": "p.Asp405Gly",
"transcript": "ENST00000905885.1",
"protein_id": "ENSP00000575944.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 700,
"cds_start": 1214,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905885.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXL4",
"gene_hgnc_id": 17171,
"hgvs_c": "c.812A>G",
"hgvs_p": "p.Asp271Gly",
"transcript": "ENST00000905884.1",
"protein_id": "ENSP00000575943.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 622,
"cds_start": 812,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905884.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXL4",
"gene_hgnc_id": 17171,
"hgvs_c": "c.1217A>G",
"hgvs_p": "p.Asp406Gly",
"transcript": "XM_005270216.3",
"protein_id": "XP_005270273.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 757,
"cds_start": 1217,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005270216.3"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXL4",
"gene_hgnc_id": 17171,
"hgvs_c": "c.1217A>G",
"hgvs_p": "p.Asp406Gly",
"transcript": "XM_006718020.2",
"protein_id": "XP_006718083.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 757,
"cds_start": 1217,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006718020.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXL4",
"gene_hgnc_id": 17171,
"hgvs_c": "c.1217A>G",
"hgvs_p": "p.Asp406Gly",
"transcript": "XM_024448232.1",
"protein_id": "XP_024304000.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 757,
"cds_start": 1217,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448232.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXL4",
"gene_hgnc_id": 17171,
"hgvs_c": "c.1214A>G",
"hgvs_p": "p.Asp405Gly",
"transcript": "XM_047425835.1",
"protein_id": "XP_047281791.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 756,
"cds_start": 1214,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425835.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOXL4",
"gene_hgnc_id": 17171,
"hgvs_c": "c.1214A>G",
"hgvs_p": "p.Asp405Gly",
"transcript": "XM_047425836.1",
"protein_id": "XP_047281792.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 756,
"cds_start": 1214,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425836.1"
}
],
"gene_symbol": "LOXL4",
"gene_hgnc_id": 17171,
"dbsnp": "rs1983864",
"frequency_reference_population": 6.8409656e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84097e-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": 0.9372185468673706,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.681,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9149,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.24,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.017,
"phylop100way_prediction": "Pathogenic",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_032211.7",
"gene_symbol": "LOXL4",
"hgnc_id": 17171,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1214A>G",
"hgvs_p": "p.Asp405Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}