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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-64917865-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=64917865&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 64917865,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000374839.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC4H2",
"gene_hgnc_id": 24931,
"hgvs_c": "c.593G>A",
"hgvs_p": "p.Arg198Gln",
"transcript": "NM_018684.4",
"protein_id": "NP_061154.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 224,
"cds_start": 593,
"cds_end": null,
"cds_length": 675,
"cdna_start": 666,
"cdna_end": null,
"cdna_length": 2724,
"mane_select": "ENST00000374839.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC4H2",
"gene_hgnc_id": 24931,
"hgvs_c": "c.593G>A",
"hgvs_p": "p.Arg198Gln",
"transcript": "ENST00000374839.8",
"protein_id": "ENSP00000363972.3",
"transcript_support_level": 1,
"aa_start": 198,
"aa_end": null,
"aa_length": 224,
"cds_start": 593,
"cds_end": null,
"cds_length": 675,
"cdna_start": 666,
"cdna_end": null,
"cdna_length": 2724,
"mane_select": "NM_018684.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC4H2",
"gene_hgnc_id": 24931,
"hgvs_c": "c.524G>A",
"hgvs_p": "p.Arg175Gln",
"transcript": "NM_001178032.3",
"protein_id": "NP_001171503.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 201,
"cds_start": 524,
"cds_end": null,
"cds_length": 606,
"cdna_start": 908,
"cdna_end": null,
"cdna_length": 2966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC4H2",
"gene_hgnc_id": 24931,
"hgvs_c": "c.524G>A",
"hgvs_p": "p.Arg175Gln",
"transcript": "NM_001243804.2",
"protein_id": "NP_001230733.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 201,
"cds_start": 524,
"cds_end": null,
"cds_length": 606,
"cdna_start": 653,
"cdna_end": null,
"cdna_length": 2711,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC4H2",
"gene_hgnc_id": 24931,
"hgvs_c": "c.524G>A",
"hgvs_p": "p.Arg175Gln",
"transcript": "ENST00000337990.2",
"protein_id": "ENSP00000338650.2",
"transcript_support_level": 2,
"aa_start": 175,
"aa_end": null,
"aa_length": 201,
"cds_start": 524,
"cds_end": null,
"cds_length": 606,
"cdna_start": 880,
"cdna_end": null,
"cdna_length": 2363,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "ZC4H2",
"gene_hgnc_id": 24931,
"hgvs_c": "c.430G>A",
"hgvs_p": "p.Gly144Arg",
"transcript": "NM_001178033.3",
"protein_id": "NP_001171504.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 176,
"cds_start": 430,
"cds_end": null,
"cds_length": 531,
"cdna_start": 503,
"cdna_end": null,
"cdna_length": 2561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"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": "ZC4H2",
"gene_hgnc_id": 24931,
"hgvs_c": "c.430G>A",
"hgvs_p": "p.Gly144Arg",
"transcript": "ENST00000447788.6",
"protein_id": "ENSP00000399126.2",
"transcript_support_level": 2,
"aa_start": 144,
"aa_end": null,
"aa_length": 176,
"cds_start": 430,
"cds_end": null,
"cds_length": 531,
"cdna_start": 586,
"cdna_end": null,
"cdna_length": 2649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC4H2",
"gene_hgnc_id": 24931,
"hgvs_c": "c.524G>A",
"hgvs_p": "p.Arg175Gln",
"transcript": "ENST00000476032.2",
"protein_id": "ENSP00000515193.1",
"transcript_support_level": 3,
"aa_start": 175,
"aa_end": null,
"aa_length": 176,
"cds_start": 524,
"cds_end": null,
"cds_length": 531,
"cdna_start": 858,
"cdna_end": null,
"cdna_length": 865,
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC4H2",
"gene_hgnc_id": 24931,
"hgvs_c": "n.581G>A",
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC4H2",
"gene_hgnc_id": 24931,
"hgvs_c": "n.*217G>A",
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC4H2",
"gene_hgnc_id": 24931,
"hgvs_c": "n.*1167G>A",
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC4H2",
"gene_hgnc_id": 24931,
"hgvs_c": "n.*551G>A",
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC4H2",
"gene_hgnc_id": 24931,
"hgvs_c": "n.921G>A",
"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": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"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.*2212G>A",
"hgvs_p": null,
"transcript": "ENST00000488608.5",
"protein_id": "ENSP00000515191.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 133,
"cds_start": -4,
"cds_end": null,
"cds_length": 402,
"cdna_start": null,
"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": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC4H2",
"gene_hgnc_id": 24931,
"hgvs_c": "n.*217G>A",
"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": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC4H2",
"gene_hgnc_id": 24931,
"hgvs_c": "n.*1167G>A",
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC4H2",
"gene_hgnc_id": 24931,
"hgvs_c": "n.*551G>A",
"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": "rs879255235",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.42216163873672485,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.54,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9999,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": 0.53,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.301,
"phylop100way_prediction": "Uncertain_significance",
"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": 13,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP5_Very_Strong,BP4",
"acmg_by_gene": [
{
"score": 13,
"benign_score": 1,
"pathogenic_score": 14,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP5_Very_Strong",
"BP4"
],
"verdict": "Pathogenic",
"transcript": "ENST00000374839.8",
"gene_symbol": "ZC4H2",
"hgnc_id": 24931,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.593G>A",
"hgvs_p": "p.Arg198Gln"
}
],
"clinvar_disease": " female-restricted,Wieacker-Wolff syndrome,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:5 LP:1",
"phenotype_combined": "Wieacker-Wolff syndrome|not provided|Wieacker-Wolff syndrome, female-restricted",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}