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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: 21-18257038-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=18257038&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 18257038,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_024944.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHODL",
"gene_hgnc_id": 17807,
"hgvs_c": "c.458C>T",
"hgvs_p": "p.Ala153Val",
"transcript": "NM_024944.3",
"protein_id": "NP_079220.2",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 273,
"cds_start": 458,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000299295.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024944.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHODL",
"gene_hgnc_id": 17807,
"hgvs_c": "c.458C>T",
"hgvs_p": "p.Ala153Val",
"transcript": "ENST00000299295.7",
"protein_id": "ENSP00000299295.2",
"transcript_support_level": 1,
"aa_start": 153,
"aa_end": null,
"aa_length": 273,
"cds_start": 458,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024944.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000299295.7"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHODL",
"gene_hgnc_id": 17807,
"hgvs_c": "c.335C>T",
"hgvs_p": "p.Ala112Val",
"transcript": "ENST00000400131.5",
"protein_id": "ENSP00000382996.1",
"transcript_support_level": 1,
"aa_start": 112,
"aa_end": null,
"aa_length": 236,
"cds_start": 335,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400131.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHODL",
"gene_hgnc_id": 17807,
"hgvs_c": "c.335C>T",
"hgvs_p": "p.Ala112Val",
"transcript": "ENST00000400135.5",
"protein_id": "ENSP00000383001.1",
"transcript_support_level": 1,
"aa_start": 112,
"aa_end": null,
"aa_length": 236,
"cds_start": 335,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400135.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHODL",
"gene_hgnc_id": 17807,
"hgvs_c": "c.335C>T",
"hgvs_p": "p.Ala112Val",
"transcript": "ENST00000400127.5",
"protein_id": "ENSP00000382992.1",
"transcript_support_level": 1,
"aa_start": 112,
"aa_end": null,
"aa_length": 232,
"cds_start": 335,
"cds_end": null,
"cds_length": 699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400127.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHODL",
"gene_hgnc_id": 17807,
"hgvs_c": "c.401C>T",
"hgvs_p": "p.Ala134Val",
"transcript": "NM_001204174.2",
"protein_id": "NP_001191103.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 254,
"cds_start": 401,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204174.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHODL",
"gene_hgnc_id": 17807,
"hgvs_c": "c.401C>T",
"hgvs_p": "p.Ala134Val",
"transcript": "ENST00000543733.5",
"protein_id": "ENSP00000443566.1",
"transcript_support_level": 2,
"aa_start": 134,
"aa_end": null,
"aa_length": 254,
"cds_start": 401,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543733.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHODL",
"gene_hgnc_id": 17807,
"hgvs_c": "c.335C>T",
"hgvs_p": "p.Ala112Val",
"transcript": "NM_001204177.2",
"protein_id": "NP_001191106.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 236,
"cds_start": 335,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204177.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHODL",
"gene_hgnc_id": 17807,
"hgvs_c": "c.335C>T",
"hgvs_p": "p.Ala112Val",
"transcript": "NM_001204178.2",
"protein_id": "NP_001191107.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 236,
"cds_start": 335,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204178.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHODL",
"gene_hgnc_id": 17807,
"hgvs_c": "c.335C>T",
"hgvs_p": "p.Ala112Val",
"transcript": "ENST00000338326.4",
"protein_id": "ENSP00000339975.3",
"transcript_support_level": 5,
"aa_start": 112,
"aa_end": null,
"aa_length": 236,
"cds_start": 335,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338326.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHODL",
"gene_hgnc_id": 17807,
"hgvs_c": "c.335C>T",
"hgvs_p": "p.Ala112Val",
"transcript": "NM_001204175.2",
"protein_id": "NP_001191104.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 232,
"cds_start": 335,
"cds_end": null,
"cds_length": 699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204175.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHODL",
"gene_hgnc_id": 17807,
"hgvs_c": "c.335C>T",
"hgvs_p": "p.Ala112Val",
"transcript": "NM_001204176.2",
"protein_id": "NP_001191105.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 232,
"cds_start": 335,
"cds_end": null,
"cds_length": 699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204176.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHODL",
"gene_hgnc_id": 17807,
"hgvs_c": "c.335C>T",
"hgvs_p": "p.Ala112Val",
"transcript": "ENST00000400128.5",
"protein_id": "ENSP00000382993.1",
"transcript_support_level": 2,
"aa_start": 112,
"aa_end": null,
"aa_length": 232,
"cds_start": 335,
"cds_end": null,
"cds_length": 699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400128.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHODL",
"gene_hgnc_id": 17807,
"hgvs_c": "c.458C>T",
"hgvs_p": "p.Ala153Val",
"transcript": "XM_011529453.3",
"protein_id": "XP_011527755.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 277,
"cds_start": 458,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529453.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHODL",
"gene_hgnc_id": 17807,
"hgvs_c": "c.425C>T",
"hgvs_p": "p.Ala142Val",
"transcript": "XM_047440682.1",
"protein_id": "XP_047296638.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 262,
"cds_start": 425,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440682.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHODL",
"gene_hgnc_id": 17807,
"hgvs_c": "c.401C>T",
"hgvs_p": "p.Ala134Val",
"transcript": "XM_017028273.2",
"protein_id": "XP_016883762.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 258,
"cds_start": 401,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017028273.2"
}
],
"gene_symbol": "CHODL",
"gene_hgnc_id": 17807,
"dbsnp": "rs147518542",
"frequency_reference_population": 0.0000043374057,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000342072,
"gnomad_genomes_af": 0.0000131416,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7336505651473999,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.295,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9094,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.568,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_024944.3",
"gene_symbol": "CHODL",
"hgnc_id": 17807,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.458C>T",
"hgvs_p": "p.Ala153Val"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}