← Back to variant description
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-18604816-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=18604816&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 18604816,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000623535.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKL5",
"gene_hgnc_id": 11411,
"hgvs_c": "c.1892T>C",
"hgvs_p": "p.Ile631Thr",
"transcript": "NM_001323289.2",
"protein_id": "NP_001310218.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 960,
"cds_start": 1892,
"cds_end": null,
"cds_length": 2883,
"cdna_start": 2142,
"cdna_end": null,
"cdna_length": 14572,
"mane_select": "ENST00000623535.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKL5",
"gene_hgnc_id": 11411,
"hgvs_c": "c.1892T>C",
"hgvs_p": "p.Ile631Thr",
"transcript": "ENST00000623535.2",
"protein_id": "ENSP00000485244.1",
"transcript_support_level": 1,
"aa_start": 631,
"aa_end": null,
"aa_length": 960,
"cds_start": 1892,
"cds_end": null,
"cds_length": 2883,
"cdna_start": 2142,
"cdna_end": null,
"cdna_length": 14572,
"mane_select": "NM_001323289.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKL5",
"gene_hgnc_id": 11411,
"hgvs_c": "c.1892T>C",
"hgvs_p": "p.Ile631Thr",
"transcript": "ENST00000379989.6",
"protein_id": "ENSP00000369325.3",
"transcript_support_level": 1,
"aa_start": 631,
"aa_end": null,
"aa_length": 1030,
"cds_start": 1892,
"cds_end": null,
"cds_length": 3093,
"cdna_start": 2177,
"cdna_end": null,
"cdna_length": 3463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKL5",
"gene_hgnc_id": 11411,
"hgvs_c": "c.1892T>C",
"hgvs_p": "p.Ile631Thr",
"transcript": "ENST00000379996.7",
"protein_id": "ENSP00000369332.3",
"transcript_support_level": 1,
"aa_start": 631,
"aa_end": null,
"aa_length": 1030,
"cds_start": 1892,
"cds_end": null,
"cds_length": 3093,
"cdna_start": 2167,
"cdna_end": null,
"cdna_length": 3449,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKL5",
"gene_hgnc_id": 11411,
"hgvs_c": "c.1892T>C",
"hgvs_p": "p.Ile631Thr",
"transcript": "NM_001037343.2",
"protein_id": "NP_001032420.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 1030,
"cds_start": 1892,
"cds_end": null,
"cds_length": 3093,
"cdna_start": 2141,
"cdna_end": null,
"cdna_length": 3427,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKL5",
"gene_hgnc_id": 11411,
"hgvs_c": "c.1892T>C",
"hgvs_p": "p.Ile631Thr",
"transcript": "NM_003159.3",
"protein_id": "NP_003150.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 1030,
"cds_start": 1892,
"cds_end": null,
"cds_length": 3093,
"cdna_start": 2142,
"cdna_end": null,
"cdna_length": 3428,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKL5",
"gene_hgnc_id": 11411,
"hgvs_c": "c.1892T>C",
"hgvs_p": "p.Ile631Thr",
"transcript": "ENST00000674046.1",
"protein_id": "ENSP00000501174.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 1001,
"cds_start": 1892,
"cds_end": null,
"cds_length": 3006,
"cdna_start": 2142,
"cdna_end": null,
"cdna_length": 14695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKL5",
"gene_hgnc_id": 11411,
"hgvs_c": "c.1892T>C",
"hgvs_p": "p.Ile631Thr",
"transcript": "ENST00000635828.1",
"protein_id": "ENSP00000490170.1",
"transcript_support_level": 5,
"aa_start": 631,
"aa_end": null,
"aa_length": 881,
"cds_start": 1892,
"cds_end": null,
"cds_length": 2646,
"cdna_start": 2258,
"cdna_end": null,
"cdna_length": 3823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDKL5",
"gene_hgnc_id": 11411,
"hgvs_c": "c.1892T>C",
"hgvs_p": "p.Ile631Thr",
"transcript": "ENST00000463994.4",
"protein_id": "ENSP00000485184.1",
"transcript_support_level": 5,
"aa_start": 631,
"aa_end": null,
"aa_length": 783,
"cds_start": 1892,
"cds_end": null,
"cds_length": 2354,
"cdna_start": 2170,
"cdna_end": null,
"cdna_length": 2632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CDKL5",
"gene_hgnc_id": 11411,
"dbsnp": "rs144878564",
"frequency_reference_population": 0.000024801157,
"hom_count_reference_population": 8,
"allele_count_reference_population": 30,
"gnomad_exomes_af": 0.0000163934,
"gnomad_genomes_af": 0.000107509,
"gnomad_exomes_ac": 18,
"gnomad_genomes_ac": 12,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05892893671989441,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.125,
"revel_prediction": "Benign",
"alphamissense_score": 0.1011,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.7,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.592,
"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": "BS2,BA1,BP2",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BS2",
"BA1",
"BP2"
],
"verdict": "Benign",
"transcript": "ENST00000623535.2",
"gene_symbol": "CDKL5",
"hgnc_id": 11411,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL,AD",
"hgvs_c": "c.1892T>C",
"hgvs_p": "p.Ile631Thr"
}
],
"clinvar_disease": " 2,Angelman syndrome-like,CDKL5 disorder,Developmental and epileptic encephalopathy,Inborn genetic diseases,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "reviewed by expert panel",
"clinvar_submissions_summary": "US:3 LB:1 B:3",
"phenotype_combined": "not specified|Developmental and epileptic encephalopathy, 2|not provided|Developmental and epileptic encephalopathy, 2;Angelman syndrome-like|CDKL5 disorder|Inborn genetic diseases",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}