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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: 3-12807362-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=12807362&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 12807362,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001162499.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAND2",
"gene_hgnc_id": 30689,
"hgvs_c": "c.269C>T",
"hgvs_p": "p.Thr90Ile",
"transcript": "NM_001162499.2",
"protein_id": "NP_001155971.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 1236,
"cds_start": 269,
"cds_end": null,
"cds_length": 3711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000456430.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001162499.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAND2",
"gene_hgnc_id": 30689,
"hgvs_c": "c.269C>T",
"hgvs_p": "p.Thr90Ile",
"transcript": "ENST00000456430.6",
"protein_id": "ENSP00000387641.2",
"transcript_support_level": 1,
"aa_start": 90,
"aa_end": null,
"aa_length": 1236,
"cds_start": 269,
"cds_end": null,
"cds_length": 3711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001162499.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000456430.6"
},
{
"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": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CAND2",
"gene_hgnc_id": 30689,
"hgvs_c": "c.213-2697C>T",
"hgvs_p": null,
"transcript": "ENST00000295989.9",
"protein_id": "ENSP00000295989.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1119,
"cds_start": null,
"cds_end": null,
"cds_length": 3360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000295989.9"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAND2",
"gene_hgnc_id": 30689,
"hgvs_c": "c.269C>T",
"hgvs_p": "p.Thr90Ile",
"transcript": "ENST00000949513.1",
"protein_id": "ENSP00000619572.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 735,
"cds_start": 269,
"cds_end": null,
"cds_length": 2208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949513.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAND2",
"gene_hgnc_id": 30689,
"hgvs_c": "c.197C>T",
"hgvs_p": "p.Thr66Ile",
"transcript": "XM_011533504.3",
"protein_id": "XP_011531806.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 1212,
"cds_start": 197,
"cds_end": null,
"cds_length": 3639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533504.3"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAND2",
"gene_hgnc_id": 30689,
"hgvs_c": "c.269C>T",
"hgvs_p": "p.Thr90Ile",
"transcript": "XM_011533503.3",
"protein_id": "XP_011531805.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 1145,
"cds_start": 269,
"cds_end": null,
"cds_length": 3438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533503.3"
},
{
"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": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CAND2",
"gene_hgnc_id": 30689,
"hgvs_c": "c.213-2697C>T",
"hgvs_p": null,
"transcript": "ENST00000856238.1",
"protein_id": "ENSP00000526297.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1143,
"cds_start": null,
"cds_end": null,
"cds_length": 3432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856238.1"
},
{
"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": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CAND2",
"gene_hgnc_id": 30689,
"hgvs_c": "c.213-2697C>T",
"hgvs_p": null,
"transcript": "NM_012298.3",
"protein_id": "NP_036430.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1119,
"cds_start": null,
"cds_end": null,
"cds_length": 3360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012298.3"
},
{
"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": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CAND2",
"gene_hgnc_id": 30689,
"hgvs_c": "c.184+3759C>T",
"hgvs_p": null,
"transcript": "ENST00000917140.1",
"protein_id": "ENSP00000587199.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1044,
"cds_start": null,
"cds_end": null,
"cds_length": 3135,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917140.1"
},
{
"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": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CAND2",
"gene_hgnc_id": 30689,
"hgvs_c": "c.212+3731C>T",
"hgvs_p": null,
"transcript": "ENST00000949514.1",
"protein_id": "ENSP00000619573.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1019,
"cds_start": null,
"cds_end": null,
"cds_length": 3060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949514.1"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CAND2",
"gene_hgnc_id": 30689,
"hgvs_c": "c.213-2556C>T",
"hgvs_p": null,
"transcript": "ENST00000626378.1",
"protein_id": "ENSP00000486760.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 110,
"cds_start": null,
"cds_end": null,
"cds_length": 333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000626378.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAND2",
"gene_hgnc_id": 30689,
"hgvs_c": "n.230C>T",
"hgvs_p": null,
"transcript": "ENST00000466558.1",
"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": "pseudogene",
"feature": "ENST00000466558.1"
},
{
"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": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAND2",
"gene_hgnc_id": 30689,
"hgvs_c": "n.*107C>T",
"hgvs_p": null,
"transcript": "ENST00000650119.1",
"protein_id": "ENSP00000497240.1",
"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": "ENST00000650119.1"
},
{
"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": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAND2",
"gene_hgnc_id": 30689,
"hgvs_c": "n.*107C>T",
"hgvs_p": null,
"transcript": "ENST00000650119.1",
"protein_id": "ENSP00000497240.1",
"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": "ENST00000650119.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CAND2",
"gene_hgnc_id": 30689,
"hgvs_c": "n.213-2556C>T",
"hgvs_p": null,
"transcript": "ENST00000446928.5",
"protein_id": "ENSP00000390996.1",
"transcript_support_level": 3,
"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": "ENST00000446928.5"
}
],
"gene_symbol": "CAND2",
"gene_hgnc_id": 30689,
"dbsnp": "rs187232301",
"frequency_reference_population": 0.0004163047,
"hom_count_reference_population": 0,
"allele_count_reference_population": 646,
"gnomad_exomes_af": 0.000417314,
"gnomad_genomes_af": 0.000407032,
"gnomad_exomes_ac": 584,
"gnomad_genomes_ac": 62,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.034095972776412964,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.103,
"revel_prediction": "Benign",
"alphamissense_score": 0.1298,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.054,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001162499.2",
"gene_symbol": "CAND2",
"hgnc_id": 30689,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.269C>T",
"hgvs_p": "p.Thr90Ile"
}
],
"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
}