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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: 9-133412383-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=133412383&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 133412383,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_020385.4",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REXO4",
"gene_hgnc_id": 12820,
"hgvs_c": "c.826T>C",
"hgvs_p": "p.Tyr276His",
"transcript": "NM_020385.4",
"protein_id": "NP_065118.2",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 422,
"cds_start": 826,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000371942.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020385.4"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REXO4",
"gene_hgnc_id": 12820,
"hgvs_c": "c.826T>C",
"hgvs_p": "p.Tyr276His",
"transcript": "ENST00000371942.8",
"protein_id": "ENSP00000361010.3",
"transcript_support_level": 1,
"aa_start": 276,
"aa_end": null,
"aa_length": 422,
"cds_start": 826,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020385.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371942.8"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REXO4",
"gene_hgnc_id": 12820,
"hgvs_c": "c.850T>C",
"hgvs_p": "p.Tyr284His",
"transcript": "ENST00000903994.1",
"protein_id": "ENSP00000574053.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 430,
"cds_start": 850,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903994.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REXO4",
"gene_hgnc_id": 12820,
"hgvs_c": "c.844T>C",
"hgvs_p": "p.Tyr282His",
"transcript": "ENST00000903993.1",
"protein_id": "ENSP00000574052.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 428,
"cds_start": 844,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903993.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REXO4",
"gene_hgnc_id": 12820,
"hgvs_c": "c.826T>C",
"hgvs_p": "p.Tyr276His",
"transcript": "ENST00000903991.1",
"protein_id": "ENSP00000574050.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 420,
"cds_start": 826,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903991.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REXO4",
"gene_hgnc_id": 12820,
"hgvs_c": "c.772T>C",
"hgvs_p": "p.Tyr258His",
"transcript": "ENST00000903990.1",
"protein_id": "ENSP00000574049.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 404,
"cds_start": 772,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903990.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REXO4",
"gene_hgnc_id": 12820,
"hgvs_c": "c.826T>C",
"hgvs_p": "p.Tyr276His",
"transcript": "ENST00000903992.1",
"protein_id": "ENSP00000574051.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 397,
"cds_start": 826,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903992.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REXO4",
"gene_hgnc_id": 12820,
"hgvs_c": "c.547T>C",
"hgvs_p": "p.Tyr183His",
"transcript": "NM_001279351.1",
"protein_id": "NP_001266280.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 329,
"cds_start": 547,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001279351.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REXO4",
"gene_hgnc_id": 12820,
"hgvs_c": "c.415T>C",
"hgvs_p": "p.Tyr139His",
"transcript": "NM_001279350.2",
"protein_id": "NP_001266279.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 285,
"cds_start": 415,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001279350.2"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REXO4",
"gene_hgnc_id": 12820,
"hgvs_c": "c.547T>C",
"hgvs_p": "p.Tyr183His",
"transcript": "ENST00000445916.1",
"protein_id": "ENSP00000391534.1",
"transcript_support_level": 3,
"aa_start": 183,
"aa_end": null,
"aa_length": 188,
"cds_start": 547,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000445916.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REXO4",
"gene_hgnc_id": 12820,
"hgvs_c": "c.415T>C",
"hgvs_p": "p.Tyr139His",
"transcript": "XM_024447611.2",
"protein_id": "XP_024303379.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 285,
"cds_start": 415,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447611.2"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REXO4",
"gene_hgnc_id": 12820,
"hgvs_c": "c.415T>C",
"hgvs_p": "p.Tyr139His",
"transcript": "XM_024447612.2",
"protein_id": "XP_024303380.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 285,
"cds_start": 415,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447612.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "REXO4",
"gene_hgnc_id": 12820,
"hgvs_c": "c.395-1310T>C",
"hgvs_p": null,
"transcript": "NM_001279349.2",
"protein_id": "NP_001266278.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 250,
"cds_start": null,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001279349.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "REXO4",
"gene_hgnc_id": 12820,
"hgvs_c": "c.395-1310T>C",
"hgvs_p": null,
"transcript": "ENST00000371935.6",
"protein_id": "ENSP00000361003.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 250,
"cds_start": null,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371935.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "REXO4",
"gene_hgnc_id": 12820,
"hgvs_c": "c.395-1310T>C",
"hgvs_p": null,
"transcript": "ENST00000454825.1",
"protein_id": "ENSP00000394229.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 232,
"cds_start": null,
"cds_end": null,
"cds_length": 700,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000454825.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "REXO4",
"gene_hgnc_id": 12820,
"hgvs_c": "c.716+395T>C",
"hgvs_p": null,
"transcript": "XM_047423608.1",
"protein_id": "XP_047279564.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 242,
"cds_start": null,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423608.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REXO4",
"gene_hgnc_id": 12820,
"hgvs_c": "n.763T>C",
"hgvs_p": null,
"transcript": "ENST00000478037.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "pseudogene",
"feature": "ENST00000478037.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REXO4",
"gene_hgnc_id": 12820,
"hgvs_c": "n.589T>C",
"hgvs_p": null,
"transcript": "ENST00000494045.5",
"protein_id": null,
"transcript_support_level": 3,
"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": "pseudogene",
"feature": "ENST00000494045.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REXO4",
"gene_hgnc_id": 12820,
"hgvs_c": "n.645T>C",
"hgvs_p": null,
"transcript": "NR_103996.2",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "NR_103996.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "REXO4",
"gene_hgnc_id": 12820,
"hgvs_c": "n.535+395T>C",
"hgvs_p": null,
"transcript": "NR_103995.2",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "NR_103995.2"
}
],
"gene_symbol": "REXO4",
"gene_hgnc_id": 12820,
"dbsnp": "rs1193374469",
"frequency_reference_population": 0.0000018587706,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000136813,
"gnomad_genomes_af": 0.00000657367,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9037029147148132,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.659,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8804,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.18,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.548,
"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_020385.4",
"gene_symbol": "REXO4",
"hgnc_id": 12820,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.826T>C",
"hgvs_p": "p.Tyr276His"
}
],
"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
}