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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-64920098-CTCT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=64920098&ref=CTCT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 64920098,
"ref": "CTCT",
"alt": "C",
"effect": "disruptive_inframe_deletion",
"transcript": "ENST00000374839.8",
"consequences": [
{
"aa_ref": "EE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC4H2",
"gene_hgnc_id": 24931,
"hgvs_c": "c.378_380delAGA",
"hgvs_p": "p.Glu127del",
"transcript": "NM_018684.4",
"protein_id": "NP_061154.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 224,
"cds_start": 378,
"cds_end": null,
"cds_length": 675,
"cdna_start": 453,
"cdna_end": null,
"cdna_length": 2724,
"mane_select": "ENST00000374839.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EE",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC4H2",
"gene_hgnc_id": 24931,
"hgvs_c": "c.378_380delAGA",
"hgvs_p": "p.Glu127del",
"transcript": "ENST00000374839.8",
"protein_id": "ENSP00000363972.3",
"transcript_support_level": 1,
"aa_start": 126,
"aa_end": null,
"aa_length": 224,
"cds_start": 378,
"cds_end": null,
"cds_length": 675,
"cdna_start": 453,
"cdna_end": null,
"cdna_length": 2724,
"mane_select": "NM_018684.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC4H2",
"gene_hgnc_id": 24931,
"hgvs_c": "c.309_311delAGA",
"hgvs_p": "p.Glu104del",
"transcript": "NM_001178032.3",
"protein_id": "NP_001171503.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 201,
"cds_start": 309,
"cds_end": null,
"cds_length": 606,
"cdna_start": 695,
"cdna_end": null,
"cdna_length": 2966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC4H2",
"gene_hgnc_id": 24931,
"hgvs_c": "c.309_311delAGA",
"hgvs_p": "p.Glu104del",
"transcript": "NM_001243804.2",
"protein_id": "NP_001230733.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 201,
"cds_start": 309,
"cds_end": null,
"cds_length": 606,
"cdna_start": 440,
"cdna_end": null,
"cdna_length": 2711,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC4H2",
"gene_hgnc_id": 24931,
"hgvs_c": "c.309_311delAGA",
"hgvs_p": "p.Glu104del",
"transcript": "ENST00000337990.2",
"protein_id": "ENSP00000338650.2",
"transcript_support_level": 2,
"aa_start": 103,
"aa_end": null,
"aa_length": 201,
"cds_start": 309,
"cds_end": null,
"cds_length": 606,
"cdna_start": 667,
"cdna_end": null,
"cdna_length": 2363,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC4H2",
"gene_hgnc_id": 24931,
"hgvs_c": "c.378_380delAGA",
"hgvs_p": "p.Glu127del",
"transcript": "NM_001178033.3",
"protein_id": "NP_001171504.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 176,
"cds_start": 378,
"cds_end": null,
"cds_length": 531,
"cdna_start": 453,
"cdna_end": null,
"cdna_length": 2561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC4H2",
"gene_hgnc_id": 24931,
"hgvs_c": "c.378_380delAGA",
"hgvs_p": "p.Glu127del",
"transcript": "ENST00000447788.6",
"protein_id": "ENSP00000399126.2",
"transcript_support_level": 2,
"aa_start": 126,
"aa_end": null,
"aa_length": 176,
"cds_start": 378,
"cds_end": null,
"cds_length": 531,
"cdna_start": 536,
"cdna_end": null,
"cdna_length": 2649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC4H2",
"gene_hgnc_id": 24931,
"hgvs_c": "c.309_311delAGA",
"hgvs_p": "p.Glu104del",
"transcript": "ENST00000476032.2",
"protein_id": "ENSP00000515193.1",
"transcript_support_level": 3,
"aa_start": 103,
"aa_end": null,
"aa_length": 176,
"cds_start": 309,
"cds_end": null,
"cds_length": 531,
"cdna_start": 645,
"cdna_end": null,
"cdna_length": 865,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC4H2",
"gene_hgnc_id": 24931,
"hgvs_c": "c.378_380delAGA",
"hgvs_p": "p.Glu127del",
"transcript": "ENST00000488608.5",
"protein_id": "ENSP00000515191.1",
"transcript_support_level": 2,
"aa_start": 126,
"aa_end": null,
"aa_length": 133,
"cds_start": 378,
"cds_end": null,
"cds_length": 402,
"cdna_start": 536,
"cdna_end": null,
"cdna_length": 4147,
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC4H2",
"gene_hgnc_id": 24931,
"hgvs_c": "n.366_368delAGA",
"hgvs_p": null,
"transcript": "ENST00000488831.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 606,
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC4H2",
"gene_hgnc_id": 24931,
"hgvs_c": "n.378_380delAGA",
"hgvs_p": null,
"transcript": "ENST00000492653.6",
"protein_id": "ENSP00000515192.1",
"transcript_support_level": 5,
"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": 720,
"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": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC4H2",
"gene_hgnc_id": 24931,
"hgvs_c": "n.*952_*954delAGA",
"hgvs_p": null,
"transcript": "ENST00000703133.1",
"protein_id": "ENSP00000515188.1",
"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": 2665,
"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": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC4H2",
"gene_hgnc_id": 24931,
"hgvs_c": "n.*336_*338delAGA",
"hgvs_p": null,
"transcript": "ENST00000703136.1",
"protein_id": "ENSP00000515190.1",
"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": 2251,
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC4H2",
"gene_hgnc_id": 24931,
"hgvs_c": "n.706_708delAGA",
"hgvs_p": null,
"transcript": "NR_045044.2",
"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": 2979,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC4H2",
"gene_hgnc_id": 24931,
"hgvs_c": "n.*952_*954delAGA",
"hgvs_p": null,
"transcript": "ENST00000703133.1",
"protein_id": "ENSP00000515188.1",
"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": 2665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC4H2",
"gene_hgnc_id": 24931,
"hgvs_c": "n.*336_*338delAGA",
"hgvs_p": null,
"transcript": "ENST00000703136.1",
"protein_id": "ENSP00000515190.1",
"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": 2251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZC4H2",
"gene_hgnc_id": 24931,
"dbsnp": "rs750367160",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 9.11867e-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": 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": 7.536,
"phylop100way_prediction": "Pathogenic",
"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": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM4_Supporting,PP5_Moderate",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PM4_Supporting",
"PP5_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000374839.8",
"gene_symbol": "ZC4H2",
"hgnc_id": 24931,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "XL",
"hgvs_c": "c.378_380delAGA",
"hgvs_p": "p.Glu127del"
}
],
"clinvar_disease": "Wieacker-Wolff syndrome",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Wieacker-Wolff syndrome",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}