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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: 4-56020780-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=56020780&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 56020780,
"ref": "G",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_025009.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP135",
"gene_hgnc_id": 29086,
"hgvs_c": "c.3320G>A",
"hgvs_p": "p.Arg1107Gln",
"transcript": "NM_025009.5",
"protein_id": "NP_079285.2",
"transcript_support_level": null,
"aa_start": 1107,
"aa_end": null,
"aa_length": 1140,
"cds_start": 3320,
"cds_end": null,
"cds_length": 3423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000257287.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_025009.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP135",
"gene_hgnc_id": 29086,
"hgvs_c": "c.3320G>A",
"hgvs_p": "p.Arg1107Gln",
"transcript": "ENST00000257287.5",
"protein_id": "ENSP00000257287.3",
"transcript_support_level": 1,
"aa_start": 1107,
"aa_end": null,
"aa_length": 1140,
"cds_start": 3320,
"cds_end": null,
"cds_length": 3423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_025009.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000257287.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP135",
"gene_hgnc_id": 29086,
"hgvs_c": "n.3270G>A",
"hgvs_p": null,
"transcript": "ENST00000506202.1",
"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": "ENST00000506202.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP135",
"gene_hgnc_id": 29086,
"hgvs_c": "c.3473G>A",
"hgvs_p": "p.Arg1158Gln",
"transcript": "ENST00000916105.1",
"protein_id": "ENSP00000586164.1",
"transcript_support_level": null,
"aa_start": 1158,
"aa_end": null,
"aa_length": 1191,
"cds_start": 3473,
"cds_end": null,
"cds_length": 3576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916105.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP135",
"gene_hgnc_id": 29086,
"hgvs_c": "c.3287G>A",
"hgvs_p": "p.Arg1096Gln",
"transcript": "ENST00000916104.1",
"protein_id": "ENSP00000586163.1",
"transcript_support_level": null,
"aa_start": 1096,
"aa_end": null,
"aa_length": 1129,
"cds_start": 3287,
"cds_end": null,
"cds_length": 3390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916104.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP135",
"gene_hgnc_id": 29086,
"hgvs_c": "c.3254G>A",
"hgvs_p": "p.Arg1085Gln",
"transcript": "ENST00000916107.1",
"protein_id": "ENSP00000586166.1",
"transcript_support_level": null,
"aa_start": 1085,
"aa_end": null,
"aa_length": 1118,
"cds_start": 3254,
"cds_end": null,
"cds_length": 3357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916107.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP135",
"gene_hgnc_id": 29086,
"hgvs_c": "c.3191G>A",
"hgvs_p": "p.Arg1064Gln",
"transcript": "ENST00000916106.1",
"protein_id": "ENSP00000586165.1",
"transcript_support_level": null,
"aa_start": 1064,
"aa_end": null,
"aa_length": 1097,
"cds_start": 3191,
"cds_end": null,
"cds_length": 3294,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916106.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP135",
"gene_hgnc_id": 29086,
"hgvs_c": "c.3287G>A",
"hgvs_p": "p.Arg1096Gln",
"transcript": "XM_006714055.4",
"protein_id": "XP_006714118.1",
"transcript_support_level": null,
"aa_start": 1096,
"aa_end": null,
"aa_length": 1129,
"cds_start": 3287,
"cds_end": null,
"cds_length": 3390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006714055.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP135",
"gene_hgnc_id": 29086,
"hgvs_c": "c.2249G>A",
"hgvs_p": "p.Arg750Gln",
"transcript": "XM_005265788.5",
"protein_id": "XP_005265845.1",
"transcript_support_level": null,
"aa_start": 750,
"aa_end": null,
"aa_length": 783,
"cds_start": 2249,
"cds_end": null,
"cds_length": 2352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005265788.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP135",
"gene_hgnc_id": 29086,
"hgvs_c": "c.1790G>A",
"hgvs_p": "p.Arg597Gln",
"transcript": "XM_011534412.2",
"protein_id": "XP_011532714.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 630,
"cds_start": 1790,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534412.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP135",
"gene_hgnc_id": 29086,
"hgvs_c": "n.1385G>A",
"hgvs_p": null,
"transcript": "ENST00000706801.1",
"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": "retained_intron",
"feature": "ENST00000706801.1"
}
],
"gene_symbol": "CEP135",
"gene_hgnc_id": 29086,
"dbsnp": "rs745603844",
"frequency_reference_population": 0.000014934345,
"hom_count_reference_population": 0,
"allele_count_reference_population": 24,
"gnomad_exomes_af": 0.00000824731,
"gnomad_genomes_af": 0.0000789401,
"gnomad_exomes_ac": 12,
"gnomad_genomes_ac": 12,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7428240180015564,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.9980000257492065,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.25,
"revel_prediction": "Benign",
"alphamissense_score": 0.3666,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.879,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.9999808316656,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Strong,BP6",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 1,
"pathogenic_score": 4,
"criteria": [
"PP3_Strong",
"BP6"
],
"verdict": "Uncertain_significance",
"transcript": "NM_025009.5",
"gene_symbol": "CEP135",
"hgnc_id": 29086,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3320G>A",
"hgvs_p": "p.Arg1107Gln"
}
],
"clinvar_disease": "See cases,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:1",
"phenotype_combined": "not specified|See cases|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}