← Back to variant description
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: 1-53213385-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=53213385&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 53213385,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000371486.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT2",
"gene_hgnc_id": 2330,
"hgvs_c": "c.1767G>A",
"hgvs_p": "p.Thr589Thr",
"transcript": "NM_000098.3",
"protein_id": "NP_000089.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 658,
"cds_start": 1767,
"cds_end": null,
"cds_length": 1977,
"cdna_start": 1887,
"cdna_end": null,
"cdna_length": 2699,
"mane_select": "ENST00000371486.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT2",
"gene_hgnc_id": 2330,
"hgvs_c": "c.1767G>A",
"hgvs_p": "p.Thr589Thr",
"transcript": "ENST00000371486.4",
"protein_id": "ENSP00000360541.3",
"transcript_support_level": 1,
"aa_start": 589,
"aa_end": null,
"aa_length": 658,
"cds_start": 1767,
"cds_end": null,
"cds_length": 1977,
"cdna_start": 1887,
"cdna_end": null,
"cdna_length": 2699,
"mane_select": "NM_000098.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT2",
"gene_hgnc_id": 2330,
"hgvs_c": "c.1803G>A",
"hgvs_p": "p.Thr601Thr",
"transcript": "ENST00000637252.1",
"protein_id": "ENSP00000490492.1",
"transcript_support_level": 5,
"aa_start": 601,
"aa_end": null,
"aa_length": 670,
"cds_start": 1803,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 1947,
"cdna_end": null,
"cdna_length": 2739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT2",
"gene_hgnc_id": 2330,
"hgvs_c": "c.1734G>A",
"hgvs_p": "p.Thr578Thr",
"transcript": "ENST00000635862.1",
"protein_id": "ENSP00000490867.1",
"transcript_support_level": 5,
"aa_start": 578,
"aa_end": null,
"aa_length": 647,
"cds_start": 1734,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 1858,
"cdna_end": null,
"cdna_length": 2319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT2",
"gene_hgnc_id": 2330,
"hgvs_c": "c.1698G>A",
"hgvs_p": "p.Thr566Thr",
"transcript": "NM_001330589.2",
"protein_id": "NP_001317518.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 635,
"cds_start": 1698,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 1818,
"cdna_end": null,
"cdna_length": 2630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT2",
"gene_hgnc_id": 2330,
"hgvs_c": "c.1698G>A",
"hgvs_p": "p.Thr566Thr",
"transcript": "ENST00000636867.1",
"protein_id": "ENSP00000489631.1",
"transcript_support_level": 5,
"aa_start": 566,
"aa_end": null,
"aa_length": 635,
"cds_start": 1698,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 1850,
"cdna_end": null,
"cdna_length": 2643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT2",
"gene_hgnc_id": 2330,
"hgvs_c": "c.462G>A",
"hgvs_p": "p.Thr154Thr",
"transcript": "ENST00000636935.1",
"protein_id": "ENSP00000489757.1",
"transcript_support_level": 5,
"aa_start": 154,
"aa_end": null,
"aa_length": 223,
"cds_start": 462,
"cds_end": null,
"cds_length": 672,
"cdna_start": 593,
"cdna_end": null,
"cdna_length": 803,
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000236723",
"gene_hgnc_id": null,
"hgvs_c": "n.391C>T",
"hgvs_p": null,
"transcript": "ENST00000452466.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 524,
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000236723",
"gene_hgnc_id": null,
"hgvs_c": "n.88C>T",
"hgvs_p": null,
"transcript": "ENST00000629810.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT2",
"gene_hgnc_id": 2330,
"hgvs_c": "n.*1753G>A",
"hgvs_p": null,
"transcript": "ENST00000635888.1",
"protein_id": "ENSP00000490042.1",
"transcript_support_level": 5,
"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": 2889,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT2",
"gene_hgnc_id": 2330,
"hgvs_c": "n.*1414G>A",
"hgvs_p": null,
"transcript": "ENST00000636239.1",
"protein_id": "ENSP00000490066.1",
"transcript_support_level": 5,
"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": 2579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT2",
"gene_hgnc_id": 2330,
"hgvs_c": "n.*1414G>A",
"hgvs_p": null,
"transcript": "ENST00000638135.1",
"protein_id": "ENSP00000489756.1",
"transcript_support_level": 5,
"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": 2405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT2",
"gene_hgnc_id": 2330,
"hgvs_c": "c.*20G>A",
"hgvs_p": null,
"transcript": "ENST00000636891.1",
"protein_id": "ENSP00000490399.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 598,
"cds_start": -4,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2746,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT2",
"gene_hgnc_id": 2330,
"hgvs_c": "n.*1753G>A",
"hgvs_p": null,
"transcript": "ENST00000635888.1",
"protein_id": "ENSP00000490042.1",
"transcript_support_level": 5,
"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": 2889,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT2",
"gene_hgnc_id": 2330,
"hgvs_c": "n.*1414G>A",
"hgvs_p": null,
"transcript": "ENST00000636239.1",
"protein_id": "ENSP00000490066.1",
"transcript_support_level": 5,
"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": 2579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT2",
"gene_hgnc_id": 2330,
"hgvs_c": "n.*1414G>A",
"hgvs_p": null,
"transcript": "ENST00000638135.1",
"protein_id": "ENSP00000489756.1",
"transcript_support_level": 5,
"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": 2405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CPT2",
"gene_hgnc_id": 2330,
"dbsnp": "rs77565483",
"frequency_reference_population": 0.0032920127,
"hom_count_reference_population": 45,
"allele_count_reference_population": 5314,
"gnomad_exomes_af": 0.00262264,
"gnomad_genomes_af": 0.00971626,
"gnomad_exomes_ac": 3834,
"gnomad_genomes_ac": 1480,
"gnomad_exomes_homalt": 31,
"gnomad_genomes_homalt": 14,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7799999713897705,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.78,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.777,
"phylop100way_prediction": "Benign",
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000371486.4",
"gene_symbol": "CPT2",
"hgnc_id": 2330,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.1767G>A",
"hgvs_p": "p.Thr589Thr"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000452466.1",
"gene_symbol": "ENSG00000236723",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.391C>T",
"hgvs_p": null
}
],
"clinvar_disease": " 4, acute, infection-induced, myopathic form, neonatal form, severe infantile form, susceptibility to,Carnitine palmitoyl transferase II deficiency,Carnitine palmitoyltransferase II deficiency,Encephalopathy,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:11",
"phenotype_combined": "not specified|Carnitine palmitoyltransferase II deficiency|Carnitine palmitoyl transferase II deficiency, neonatal form;Encephalopathy, acute, infection-induced, susceptibility to, 4;Carnitine palmitoyl transferase II deficiency, severe infantile form;Carnitine palmitoyl transferase II deficiency, myopathic form|Carnitine palmitoyl transferase II deficiency, myopathic form|not provided|Carnitine palmitoyl transferase II deficiency, severe infantile form|Carnitine palmitoyl transferase II deficiency, neonatal form|Encephalopathy, acute, infection-induced, susceptibility to, 4",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}