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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: 1-115768316-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=115768316&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 115768316,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000261448.6",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASQ2",
"gene_hgnc_id": 1513,
"hgvs_c": "c.226G>A",
"hgvs_p": "p.Val76Met",
"transcript": "NM_001232.4",
"protein_id": "NP_001223.2",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 399,
"cds_start": 226,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 399,
"cdna_end": null,
"cdna_length": 2593,
"mane_select": "ENST00000261448.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASQ2",
"gene_hgnc_id": 1513,
"hgvs_c": "c.226G>A",
"hgvs_p": "p.Val76Met",
"transcript": "ENST00000261448.6",
"protein_id": "ENSP00000261448.5",
"transcript_support_level": 1,
"aa_start": 76,
"aa_end": null,
"aa_length": 399,
"cds_start": 226,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 399,
"cdna_end": null,
"cdna_length": 2593,
"mane_select": "NM_001232.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASQ2",
"gene_hgnc_id": 1513,
"hgvs_c": "c.-51G>A",
"hgvs_p": null,
"transcript": "ENST00000713728.1",
"protein_id": "ENSP00000519032.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 307,
"cds_start": -4,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASQ2",
"gene_hgnc_id": 1513,
"hgvs_c": "c.-459G>A",
"hgvs_p": null,
"transcript": "ENST00000850611.1",
"protein_id": "ENSP00000520899.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 189,
"cds_start": -4,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2750,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASQ2",
"gene_hgnc_id": 1513,
"hgvs_c": "n.-51G>A",
"hgvs_p": null,
"transcript": "ENST00000488931.2",
"protein_id": "ENSP00000518226.1",
"transcript_support_level": 3,
"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": 2511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASQ2",
"gene_hgnc_id": 1513,
"hgvs_c": "n.-51G>A",
"hgvs_p": null,
"transcript": "ENST00000713712.1",
"protein_id": "ENSP00000519015.1",
"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": 2251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASQ2",
"gene_hgnc_id": 1513,
"hgvs_c": "c.226G>A",
"hgvs_p": "p.Val76Met",
"transcript": "ENST00000713711.1",
"protein_id": "ENSP00000519014.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 446,
"cds_start": 226,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 399,
"cdna_end": null,
"cdna_length": 4717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASQ2",
"gene_hgnc_id": 1513,
"hgvs_c": "c.226G>A",
"hgvs_p": "p.Val76Met",
"transcript": "ENST00000713713.1",
"protein_id": "ENSP00000519016.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 252,
"cds_start": 226,
"cds_end": null,
"cds_length": 759,
"cdna_start": 399,
"cdna_end": null,
"cdna_length": 1173,
"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": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASQ2",
"gene_hgnc_id": 1513,
"hgvs_c": "n.-51G>A",
"hgvs_p": null,
"transcript": "ENST00000488931.2",
"protein_id": "ENSP00000518226.1",
"transcript_support_level": 3,
"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": 2511,
"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": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASQ2",
"gene_hgnc_id": 1513,
"hgvs_c": "n.-51G>A",
"hgvs_p": null,
"transcript": "ENST00000713712.1",
"protein_id": "ENSP00000519015.1",
"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": 2251,
"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": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASQ2",
"gene_hgnc_id": 1513,
"hgvs_c": "n.226G>A",
"hgvs_p": null,
"transcript": "ENST00000713727.1",
"protein_id": "ENSP00000519031.1",
"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": 4984,
"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": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASQ2",
"gene_hgnc_id": 1513,
"hgvs_c": "n.226G>A",
"hgvs_p": null,
"transcript": "ENST00000713729.1",
"protein_id": "ENSP00000519033.1",
"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": 3045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASQ2",
"gene_hgnc_id": 1513,
"hgvs_c": "c.-51G>A",
"hgvs_p": null,
"transcript": "ENST00000713728.1",
"protein_id": "ENSP00000519032.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 307,
"cds_start": -4,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASQ2",
"gene_hgnc_id": 1513,
"hgvs_c": "c.-459G>A",
"hgvs_p": null,
"transcript": "ENST00000850611.1",
"protein_id": "ENSP00000520899.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 189,
"cds_start": -4,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2750,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASQ2",
"gene_hgnc_id": 1513,
"hgvs_c": "n.-51G>A",
"hgvs_p": null,
"transcript": "ENST00000488931.2",
"protein_id": "ENSP00000518226.1",
"transcript_support_level": 3,
"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": 2511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASQ2",
"gene_hgnc_id": 1513,
"hgvs_c": "n.-51G>A",
"hgvs_p": null,
"transcript": "ENST00000713712.1",
"protein_id": "ENSP00000519015.1",
"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": 2251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CASQ2",
"gene_hgnc_id": 1513,
"dbsnp": "rs10801999",
"frequency_reference_population": 0.009641547,
"hom_count_reference_population": 824,
"allele_count_reference_population": 15528,
"gnomad_exomes_af": 0.00914235,
"gnomad_genomes_af": 0.0144225,
"gnomad_exomes_ac": 13332,
"gnomad_genomes_ac": 2196,
"gnomad_exomes_homalt": 736,
"gnomad_genomes_homalt": 88,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.00224950909614563,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.254,
"revel_prediction": "Benign",
"alphamissense_score": 0.2327,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.16,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.855,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000261448.6",
"gene_symbol": "CASQ2",
"hgnc_id": 1513,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.226G>A",
"hgvs_p": "p.Val76Met"
}
],
"clinvar_disease": "Cardiomyopathy,Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 2,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:5 B:7",
"phenotype_combined": "not specified|Cardiovascular phenotype|Cardiomyopathy|Catecholaminergic polymorphic ventricular tachycardia 2|Catecholaminergic polymorphic ventricular tachycardia 1|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}