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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: 1-201059289-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=201059289&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 201059289,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000362061.4",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1S",
"gene_hgnc_id": 1397,
"hgvs_c": "c.3425A>C",
"hgvs_p": "p.Gln1142Pro",
"transcript": "NM_000069.3",
"protein_id": "NP_000060.2",
"transcript_support_level": null,
"aa_start": 1142,
"aa_end": null,
"aa_length": 1873,
"cds_start": 3425,
"cds_end": null,
"cds_length": 5622,
"cdna_start": 3512,
"cdna_end": null,
"cdna_length": 6028,
"mane_select": "ENST00000362061.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1S",
"gene_hgnc_id": 1397,
"hgvs_c": "c.3425A>C",
"hgvs_p": "p.Gln1142Pro",
"transcript": "ENST00000362061.4",
"protein_id": "ENSP00000355192.3",
"transcript_support_level": 1,
"aa_start": 1142,
"aa_end": null,
"aa_length": 1873,
"cds_start": 3425,
"cds_end": null,
"cds_length": 5622,
"cdna_start": 3512,
"cdna_end": null,
"cdna_length": 6028,
"mane_select": "NM_000069.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1S",
"gene_hgnc_id": 1397,
"hgvs_c": "c.3425A>C",
"hgvs_p": "p.Gln1142Pro",
"transcript": "ENST00000367338.7",
"protein_id": "ENSP00000356307.3",
"transcript_support_level": 5,
"aa_start": 1142,
"aa_end": null,
"aa_length": 1854,
"cds_start": 3425,
"cds_end": null,
"cds_length": 5565,
"cdna_start": 3537,
"cdna_end": null,
"cdna_length": 5996,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1S",
"gene_hgnc_id": 1397,
"hgvs_c": "c.3365A>C",
"hgvs_p": "p.Gln1122Pro",
"transcript": "ENST00000681874.1",
"protein_id": "ENSP00000505162.1",
"transcript_support_level": null,
"aa_start": 1122,
"aa_end": null,
"aa_length": 1853,
"cds_start": 3365,
"cds_end": null,
"cds_length": 5562,
"cdna_start": 3452,
"cdna_end": null,
"cdna_length": 5968,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1S",
"gene_hgnc_id": 1397,
"hgvs_c": "c.3425A>C",
"hgvs_p": "p.Gln1142Pro",
"transcript": "XM_005245478.4",
"protein_id": "XP_005245535.1",
"transcript_support_level": null,
"aa_start": 1142,
"aa_end": null,
"aa_length": 1854,
"cds_start": 3425,
"cds_end": null,
"cds_length": 5565,
"cdna_start": 3512,
"cdna_end": null,
"cdna_length": 5971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1S",
"gene_hgnc_id": 1397,
"hgvs_c": "n.*2588A>C",
"hgvs_p": null,
"transcript": "ENST00000679417.1",
"protein_id": "ENSP00000506706.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1S",
"gene_hgnc_id": 1397,
"hgvs_c": "n.551A>C",
"hgvs_p": null,
"transcript": "ENST00000680051.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2902,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1S",
"gene_hgnc_id": 1397,
"hgvs_c": "n.*943A>C",
"hgvs_p": null,
"transcript": "ENST00000680059.1",
"protein_id": "ENSP00000504944.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6054,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1S",
"gene_hgnc_id": 1397,
"hgvs_c": "n.3425A>C",
"hgvs_p": null,
"transcript": "ENST00000681078.1",
"protein_id": "ENSP00000506645.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6159,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1S",
"gene_hgnc_id": 1397,
"hgvs_c": "n.3425A>C",
"hgvs_p": null,
"transcript": "ENST00000681190.1",
"protein_id": "ENSP00000506428.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6077,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1S",
"gene_hgnc_id": 1397,
"hgvs_c": "n.3425A>C",
"hgvs_p": null,
"transcript": "ENST00000713699.1",
"protein_id": "ENSP00000519003.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1S",
"gene_hgnc_id": 1397,
"hgvs_c": "n.*2588A>C",
"hgvs_p": null,
"transcript": "ENST00000679417.1",
"protein_id": "ENSP00000506706.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1S",
"gene_hgnc_id": 1397,
"hgvs_c": "n.*943A>C",
"hgvs_p": null,
"transcript": "ENST00000680059.1",
"protein_id": "ENSP00000504944.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6054,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CACNA1S",
"gene_hgnc_id": 1397,
"dbsnp": "rs139373152",
"frequency_reference_population": 0.00016003255,
"hom_count_reference_population": 2,
"allele_count_reference_population": 258,
"gnomad_exomes_af": 0.0000986408,
"gnomad_genomes_af": 0.000748375,
"gnomad_exomes_ac": 144,
"gnomad_genomes_ac": 114,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 2,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11846625804901123,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.834,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.5013,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.47,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.248,
"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": -17,
"acmg_classification": "Benign",
"acmg_criteria": "PP3,BP4_Moderate,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -17,
"benign_score": 18,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BP4_Moderate",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000362061.4",
"gene_symbol": "CACNA1S",
"hgnc_id": 1397,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR,SD",
"hgvs_c": "c.3425A>C",
"hgvs_p": "p.Gln1142Pro"
}
],
"clinvar_disease": " 1, 5, susceptibility to, type 1,CACNA1S-related disorder,Congenital myopathy 18,Hypokalemic periodic paralysis,Malignant hyperthermia,Thyrotoxic periodic paralysis,not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:8",
"phenotype_combined": "Hypokalemic periodic paralysis, type 1;Malignant hyperthermia, susceptibility to, 5|not provided|Hypokalemic periodic paralysis, type 1;Malignant hyperthermia, susceptibility to, 5;Thyrotoxic periodic paralysis, susceptibility to, 1|Hypokalemic periodic paralysis, type 1|Malignant hyperthermia, susceptibility to, 5|Thyrotoxic periodic paralysis, susceptibility to, 1|Congenital myopathy 18|CACNA1S-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}