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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-10212653-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=10212653&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 10212653,
"ref": "G",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001830.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN4",
"gene_hgnc_id": 2022,
"hgvs_c": "c.1576G>A",
"hgvs_p": "p.Gly526Ser",
"transcript": "NM_001830.4",
"protein_id": "NP_001821.2",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 760,
"cds_start": 1576,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000380833.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001830.4"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN4",
"gene_hgnc_id": 2022,
"hgvs_c": "c.1576G>A",
"hgvs_p": "p.Gly526Ser",
"transcript": "ENST00000380833.9",
"protein_id": "ENSP00000370213.4",
"transcript_support_level": 1,
"aa_start": 526,
"aa_end": null,
"aa_length": 760,
"cds_start": 1576,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001830.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380833.9"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN4",
"gene_hgnc_id": 2022,
"hgvs_c": "c.1600G>A",
"hgvs_p": "p.Gly534Ser",
"transcript": "ENST00000421085.7",
"protein_id": "ENSP00000405754.3",
"transcript_support_level": 5,
"aa_start": 534,
"aa_end": null,
"aa_length": 768,
"cds_start": 1600,
"cds_end": null,
"cds_length": 2307,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000421085.7"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN4",
"gene_hgnc_id": 2022,
"hgvs_c": "c.1576G>A",
"hgvs_p": "p.Gly526Ser",
"transcript": "ENST00000888019.1",
"protein_id": "ENSP00000558078.1",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 760,
"cds_start": 1576,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888019.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN4",
"gene_hgnc_id": 2022,
"hgvs_c": "c.1576G>A",
"hgvs_p": "p.Gly526Ser",
"transcript": "ENST00000888020.1",
"protein_id": "ENSP00000558079.1",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 760,
"cds_start": 1576,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888020.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN4",
"gene_hgnc_id": 2022,
"hgvs_c": "c.1576G>A",
"hgvs_p": "p.Gly526Ser",
"transcript": "ENST00000888021.1",
"protein_id": "ENSP00000558080.1",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 760,
"cds_start": 1576,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888021.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN4",
"gene_hgnc_id": 2022,
"hgvs_c": "c.1576G>A",
"hgvs_p": "p.Gly526Ser",
"transcript": "ENST00000947381.1",
"protein_id": "ENSP00000617440.1",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 760,
"cds_start": 1576,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947381.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN4",
"gene_hgnc_id": 2022,
"hgvs_c": "c.1483G>A",
"hgvs_p": "p.Gly495Ser",
"transcript": "ENST00000380829.5",
"protein_id": "ENSP00000370209.1",
"transcript_support_level": 5,
"aa_start": 495,
"aa_end": null,
"aa_length": 729,
"cds_start": 1483,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380829.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN4",
"gene_hgnc_id": 2022,
"hgvs_c": "c.1453G>A",
"hgvs_p": "p.Gly485Ser",
"transcript": "ENST00000888017.1",
"protein_id": "ENSP00000558076.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 719,
"cds_start": 1453,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888017.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN4",
"gene_hgnc_id": 2022,
"hgvs_c": "c.1294G>A",
"hgvs_p": "p.Gly432Ser",
"transcript": "NM_001256944.2",
"protein_id": "NP_001243873.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 666,
"cds_start": 1294,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256944.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN4",
"gene_hgnc_id": 2022,
"hgvs_c": "c.1294G>A",
"hgvs_p": "p.Gly432Ser",
"transcript": "ENST00000674669.1",
"protein_id": "ENSP00000501922.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 666,
"cds_start": 1294,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674669.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN4",
"gene_hgnc_id": 2022,
"hgvs_c": "c.1243G>A",
"hgvs_p": "p.Gly415Ser",
"transcript": "ENST00000888018.1",
"protein_id": "ENSP00000558077.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 649,
"cds_start": 1243,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888018.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN4",
"gene_hgnc_id": 2022,
"hgvs_c": "c.1183G>A",
"hgvs_p": "p.Gly395Ser",
"transcript": "ENST00000947383.1",
"protein_id": "ENSP00000617442.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 629,
"cds_start": 1183,
"cds_end": null,
"cds_length": 1890,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947383.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN4",
"gene_hgnc_id": 2022,
"hgvs_c": "c.1030G>A",
"hgvs_p": "p.Gly344Ser",
"transcript": "ENST00000947382.1",
"protein_id": "ENSP00000617441.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 578,
"cds_start": 1030,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947382.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN4",
"gene_hgnc_id": 2022,
"hgvs_c": "n.*1350G>A",
"hgvs_p": null,
"transcript": "ENST00000675144.1",
"protein_id": "ENSP00000501600.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000675144.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN4",
"gene_hgnc_id": 2022,
"hgvs_c": "n.1576G>A",
"hgvs_p": null,
"transcript": "ENST00000675769.1",
"protein_id": "ENSP00000502110.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000675769.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN4",
"gene_hgnc_id": 2022,
"hgvs_c": "n.*1350G>A",
"hgvs_p": null,
"transcript": "ENST00000675144.1",
"protein_id": "ENSP00000501600.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000675144.1"
}
],
"gene_symbol": "CLCN4",
"gene_hgnc_id": 2022,
"dbsnp": "rs1555976973",
"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": 0.9554498791694641,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.9980000257492065,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.913,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.6087,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.57,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.799,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.54,
"spliceai_max_prediction": "Pathogenic",
"dbscsnv_ada_score": 0.999994213248802,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong,PP5",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM2",
"PP3_Strong",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001830.4",
"gene_symbol": "CLCN4",
"hgnc_id": 2022,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.1576G>A",
"hgvs_p": "p.Gly526Ser"
}
],
"clinvar_disease": " X-linked 49,Intellectual disability,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:1 LP:1 US:1",
"phenotype_combined": "Intellectual disability, X-linked 49|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}