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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: X-120560261-TGAG-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=120560261&ref=TGAG&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 120560261,
"ref": "TGAG",
"alt": "T",
"effect": "disruptive_inframe_deletion",
"transcript": "NM_001079872.2",
"consequences": [
{
"aa_ref": "SS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "c.375_377delCTC",
"hgvs_p": "p.Ser126del",
"transcript": "NM_001079872.2",
"protein_id": "NP_001073341.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 895,
"cds_start": 375,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 701,
"cdna_end": null,
"cdna_length": 5915,
"mane_select": "ENST00000371322.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SS",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "c.375_377delCTC",
"hgvs_p": "p.Ser126del",
"transcript": "ENST00000371322.11",
"protein_id": "ENSP00000360373.5",
"transcript_support_level": 1,
"aa_start": 125,
"aa_end": null,
"aa_length": 895,
"cds_start": 375,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 701,
"cdna_end": null,
"cdna_length": 5915,
"mane_select": "NM_001079872.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SS",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "c.390_392delCTC",
"hgvs_p": "p.Ser131del",
"transcript": "ENST00000681206.1",
"protein_id": "ENSP00000505480.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 933,
"cds_start": 390,
"cds_end": null,
"cds_length": 2802,
"cdna_start": 424,
"cdna_end": null,
"cdna_length": 4981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SS",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "c.429_431delCTC",
"hgvs_p": "p.Ser144del",
"transcript": "ENST00000680673.1",
"protein_id": "ENSP00000505084.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 913,
"cds_start": 429,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 868,
"cdna_end": null,
"cdna_length": 24020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SS",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "c.429_431delCTC",
"hgvs_p": "p.Ser144del",
"transcript": "ENST00000681253.1",
"protein_id": "ENSP00000506259.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 913,
"cds_start": 429,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 746,
"cdna_end": null,
"cdna_length": 5960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SS",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "c.429_431delCTC",
"hgvs_p": "p.Ser144del",
"transcript": "ENST00000681652.1",
"protein_id": "ENSP00000505176.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 913,
"cds_start": 429,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 1007,
"cdna_end": null,
"cdna_length": 5092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SS",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "c.390_392delCTC",
"hgvs_p": "p.Ser131del",
"transcript": "ENST00000336592.11",
"protein_id": "ENSP00000338919.6",
"transcript_support_level": 5,
"aa_start": 130,
"aa_end": null,
"aa_length": 900,
"cds_start": 390,
"cds_end": null,
"cds_length": 2703,
"cdna_start": 446,
"cdna_end": null,
"cdna_length": 4906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SS",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "c.375_377delCTC",
"hgvs_p": "p.Ser126del",
"transcript": "ENST00000674137.11",
"protein_id": "ENSP00000501019.6",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 897,
"cds_start": 375,
"cds_end": null,
"cds_length": 2694,
"cdna_start": 692,
"cdna_end": null,
"cdna_length": 5097,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SS",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "c.375_377delCTC",
"hgvs_p": "p.Ser126del",
"transcript": "ENST00000681090.1",
"protein_id": "ENSP00000506288.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 864,
"cds_start": 375,
"cds_end": null,
"cds_length": 2595,
"cdna_start": 701,
"cdna_end": null,
"cdna_length": 4857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SS",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "c.375_377delCTC",
"hgvs_p": "p.Ser126del",
"transcript": "ENST00000404115.8",
"protein_id": "ENSP00000384109.4",
"transcript_support_level": 1,
"aa_start": 125,
"aa_end": null,
"aa_length": 844,
"cds_start": 375,
"cds_end": null,
"cds_length": 2535,
"cdna_start": 643,
"cdna_end": null,
"cdna_length": 2902,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SS",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "c.30_32delCTC",
"hgvs_p": "p.Ser11del",
"transcript": "ENST00000679927.1",
"protein_id": "ENSP00000505603.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 780,
"cds_start": 30,
"cds_end": null,
"cds_length": 2343,
"cdna_start": 685,
"cdna_end": null,
"cdna_length": 5899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "n.375_377delCTC",
"hgvs_p": null,
"transcript": "ENST00000673919.1",
"protein_id": "ENSP00000500994.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4836,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "n.360_362delCTC",
"hgvs_p": null,
"transcript": "ENST00000679432.1",
"protein_id": "ENSP00000505343.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "n.375_377delCTC",
"hgvs_p": null,
"transcript": "ENST00000681333.1",
"protein_id": "ENSP00000505739.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7377,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "c.429_431delCTC",
"hgvs_p": "p.Ser144del",
"transcript": "NM_003588.4",
"protein_id": "NP_003579.3",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 913,
"cds_start": 429,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 571,
"cdna_end": null,
"cdna_length": 5785,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "c.390_392delCTC",
"hgvs_p": "p.Ser131del",
"transcript": "NM_001330624.2",
"protein_id": "NP_001317553.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 900,
"cds_start": 390,
"cds_end": null,
"cds_length": 2703,
"cdna_start": 446,
"cdna_end": null,
"cdna_length": 5660,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "n.42_44delCTC",
"hgvs_p": null,
"transcript": "ENST00000467641.2",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "n.701_703delCTC",
"hgvs_p": null,
"transcript": "ENST00000680165.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5430,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "n.289_291delCTC",
"hgvs_p": null,
"transcript": "ENST00000680324.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6206,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"hgvs_c": "n.536_538delCTC",
"hgvs_p": null,
"transcript": "ENST00000680577.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5440,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CUL4B",
"gene_hgnc_id": 2555,
"dbsnp": "rs754330779",
"frequency_reference_population": 0.00008156933,
"hom_count_reference_population": 14,
"allele_count_reference_population": 96,
"gnomad_exomes_af": 0.0000853713,
"gnomad_genomes_af": 0.0000450528,
"gnomad_exomes_ac": 91,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 5.248,
"phylop100way_prediction": "Uncertain_significance",
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP3,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP3",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001079872.2",
"gene_symbol": "CUL4B",
"hgnc_id": 2555,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "XL",
"hgvs_c": "c.375_377delCTC",
"hgvs_p": "p.Ser126del"
}
],
"clinvar_disease": "CUL4B-related disorder,X-linked intellectual disability Cabezas type,not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "not provided|X-linked intellectual disability Cabezas type|CUL4B-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}