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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: 1-10440352-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=10440352&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 10440352,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_198544.4",
"consequences": [
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPS",
"gene_hgnc_id": 23163,
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Ala72Val",
"transcript": "NM_199294.3",
"protein_id": "NP_954988.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 138,
"cds_start": 215,
"cds_end": null,
"cds_length": 417,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000309048.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_199294.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPS",
"gene_hgnc_id": 23163,
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Ala72Val",
"transcript": "ENST00000309048.8",
"protein_id": "ENSP00000308583.2",
"transcript_support_level": 1,
"aa_start": 72,
"aa_end": null,
"aa_length": 138,
"cds_start": 215,
"cds_end": null,
"cds_length": 417,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_199294.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000309048.8"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"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": "CENPS-CORT",
"gene_hgnc_id": 38843,
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Ala72Val",
"transcript": "ENST00000602787.6",
"protein_id": "ENSP00000473509.2",
"transcript_support_level": 3,
"aa_start": 72,
"aa_end": null,
"aa_length": 138,
"cds_start": 215,
"cds_end": null,
"cds_length": 417,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000602787.6"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPS",
"gene_hgnc_id": 23163,
"hgvs_c": "c.118C>T",
"hgvs_p": "p.Arg40*",
"transcript": "ENST00000462462.1",
"protein_id": "ENSP00000489524.1",
"transcript_support_level": 3,
"aa_start": 40,
"aa_end": null,
"aa_length": 49,
"cds_start": 118,
"cds_end": null,
"cds_length": 150,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000462462.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPS-CORT",
"gene_hgnc_id": 38843,
"hgvs_c": "c.118C>T",
"hgvs_p": "p.Arg40*",
"transcript": "ENST00000465026.1",
"protein_id": "ENSP00000489060.1",
"transcript_support_level": 3,
"aa_start": 40,
"aa_end": null,
"aa_length": 49,
"cds_start": 118,
"cds_end": null,
"cds_length": 150,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000465026.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPS-CORT",
"gene_hgnc_id": 38843,
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Ala72Val",
"transcript": "NM_198544.4",
"protein_id": "NP_940946.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 164,
"cds_start": 215,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198544.4"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPS-CORT",
"gene_hgnc_id": 38843,
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Ala72Val",
"transcript": "ENST00000400900.6",
"protein_id": "ENSP00000383692.2",
"transcript_support_level": 2,
"aa_start": 72,
"aa_end": null,
"aa_length": 164,
"cds_start": 215,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400900.6"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPS-CORT",
"gene_hgnc_id": 38843,
"hgvs_c": "c.152C>T",
"hgvs_p": "p.Ala51Val",
"transcript": "NM_001243768.2",
"protein_id": "NP_001230697.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 143,
"cds_start": 152,
"cds_end": null,
"cds_length": 432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001243768.2"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPS-CORT",
"gene_hgnc_id": 38843,
"hgvs_c": "c.152C>T",
"hgvs_p": "p.Ala51Val",
"transcript": "ENST00000602296.6",
"protein_id": "ENSP00000473401.2",
"transcript_support_level": 3,
"aa_start": 51,
"aa_end": null,
"aa_length": 143,
"cds_start": 152,
"cds_end": null,
"cds_length": 432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000602296.6"
},
{
"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": "CENPS-CORT",
"gene_hgnc_id": 38843,
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Ala72Val",
"transcript": "NM_001270517.2",
"protein_id": "NP_001257446.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 138,
"cds_start": 215,
"cds_end": null,
"cds_length": 417,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270517.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CENPS-CORT",
"gene_hgnc_id": 38843,
"hgvs_c": "c.209+5662C>T",
"hgvs_p": null,
"transcript": "NM_199006.3",
"protein_id": "NP_950171.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 77,
"cds_start": null,
"cds_end": null,
"cds_length": 234,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_199006.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CENPS-CORT",
"gene_hgnc_id": 38843,
"hgvs_c": "c.209+5662C>T",
"hgvs_p": null,
"transcript": "ENST00000470413.6",
"protein_id": "ENSP00000433615.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 77,
"cds_start": null,
"cds_end": null,
"cds_length": 234,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000470413.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPS",
"gene_hgnc_id": 23163,
"hgvs_c": "n.230C>T",
"hgvs_p": null,
"transcript": "ENST00000464507.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000464507.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPS",
"gene_hgnc_id": 23163,
"hgvs_c": "n.*39C>T",
"hgvs_p": null,
"transcript": "ENST00000477755.1",
"protein_id": "ENSP00000468629.2",
"transcript_support_level": 2,
"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": "ENST00000477755.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPS",
"gene_hgnc_id": 23163,
"hgvs_c": "n.816C>T",
"hgvs_p": null,
"transcript": "NR_036462.2",
"protein_id": null,
"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": "pseudogene",
"feature": "NR_036462.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPS-CORT",
"gene_hgnc_id": 38843,
"hgvs_c": "n.658C>T",
"hgvs_p": null,
"transcript": "NR_037187.2",
"protein_id": null,
"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": "pseudogene",
"feature": "NR_037187.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPS",
"gene_hgnc_id": 23163,
"hgvs_c": "n.*39C>T",
"hgvs_p": null,
"transcript": "ENST00000477755.1",
"protein_id": "ENSP00000468629.2",
"transcript_support_level": 2,
"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": "ENST00000477755.1"
}
],
"gene_symbol": "CENPS-CORT",
"gene_hgnc_id": 38843,
"dbsnp": "rs759332241",
"frequency_reference_population": 0.000039670882,
"hom_count_reference_population": 0,
"allele_count_reference_population": 64,
"gnomad_exomes_af": 0.0000362737,
"gnomad_genomes_af": 0.0000722923,
"gnomad_exomes_ac": 53,
"gnomad_genomes_ac": 11,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7359756231307983,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.513,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9678,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.4,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.528,
"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": 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_198544.4",
"gene_symbol": "CENPS-CORT",
"hgnc_id": 38843,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Ala72Val"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_199294.3",
"gene_symbol": "CENPS",
"hgnc_id": 23163,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Ala72Val"
}
],
"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
}