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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: 22-50570352-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=50570352&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 50570352,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_152246.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1B",
"gene_hgnc_id": 2329,
"hgvs_c": "c.2083C>G",
"hgvs_p": "p.Arg695Gly",
"transcript": "NM_152246.3",
"protein_id": "NP_689452.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 772,
"cds_start": 2083,
"cds_end": null,
"cds_length": 2319,
"cdna_start": 2144,
"cdna_end": null,
"cdna_length": 2603,
"mane_select": "ENST00000312108.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1B",
"gene_hgnc_id": 2329,
"hgvs_c": "c.2083C>G",
"hgvs_p": "p.Arg695Gly",
"transcript": "ENST00000312108.12",
"protein_id": "ENSP00000312189.8",
"transcript_support_level": 1,
"aa_start": 695,
"aa_end": null,
"aa_length": 772,
"cds_start": 2083,
"cds_end": null,
"cds_length": 2319,
"cdna_start": 2144,
"cdna_end": null,
"cdna_length": 2603,
"mane_select": "NM_152246.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1B",
"gene_hgnc_id": 2329,
"hgvs_c": "c.2083C>G",
"hgvs_p": "p.Arg695Gly",
"transcript": "ENST00000395650.6",
"protein_id": "ENSP00000379011.2",
"transcript_support_level": 1,
"aa_start": 695,
"aa_end": null,
"aa_length": 772,
"cds_start": 2083,
"cds_end": null,
"cds_length": 2319,
"cdna_start": 2172,
"cdna_end": null,
"cdna_length": 2662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1B",
"gene_hgnc_id": 2329,
"hgvs_c": "c.2083C>G",
"hgvs_p": "p.Arg695Gly",
"transcript": "ENST00000405237.7",
"protein_id": "ENSP00000385486.3",
"transcript_support_level": 1,
"aa_start": 695,
"aa_end": null,
"aa_length": 772,
"cds_start": 2083,
"cds_end": null,
"cds_length": 2319,
"cdna_start": 2188,
"cdna_end": null,
"cdna_length": 2647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHKB-CPT1B",
"gene_hgnc_id": 41998,
"hgvs_c": "n.*2308C>G",
"hgvs_p": null,
"transcript": "ENST00000453634.5",
"protein_id": "ENSP00000457031.1",
"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": 2816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHKB-CPT1B",
"gene_hgnc_id": 41998,
"hgvs_c": "n.*2308C>G",
"hgvs_p": null,
"transcript": "ENST00000453634.5",
"protein_id": "ENSP00000457031.1",
"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": 2816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1B",
"gene_hgnc_id": 2329,
"hgvs_c": "c.2083C>G",
"hgvs_p": "p.Arg695Gly",
"transcript": "NM_001145135.2",
"protein_id": "NP_001138607.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 772,
"cds_start": 2083,
"cds_end": null,
"cds_length": 2319,
"cdna_start": 2166,
"cdna_end": null,
"cdna_length": 2625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1B",
"gene_hgnc_id": 2329,
"hgvs_c": "c.2083C>G",
"hgvs_p": "p.Arg695Gly",
"transcript": "NM_001145137.2",
"protein_id": "NP_001138609.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 772,
"cds_start": 2083,
"cds_end": null,
"cds_length": 2319,
"cdna_start": 2185,
"cdna_end": null,
"cdna_length": 2644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1B",
"gene_hgnc_id": 2329,
"hgvs_c": "c.2083C>G",
"hgvs_p": "p.Arg695Gly",
"transcript": "NM_004377.4",
"protein_id": "NP_004368.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 772,
"cds_start": 2083,
"cds_end": null,
"cds_length": 2319,
"cdna_start": 2144,
"cdna_end": null,
"cdna_length": 2857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1B",
"gene_hgnc_id": 2329,
"hgvs_c": "c.2083C>G",
"hgvs_p": "p.Arg695Gly",
"transcript": "NM_152245.3",
"protein_id": "NP_689451.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 772,
"cds_start": 2083,
"cds_end": null,
"cds_length": 2319,
"cdna_start": 2166,
"cdna_end": null,
"cdna_length": 2879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1B",
"gene_hgnc_id": 2329,
"hgvs_c": "c.1981C>G",
"hgvs_p": "p.Arg661Gly",
"transcript": "NM_001145134.2",
"protein_id": "NP_001138606.1",
"transcript_support_level": null,
"aa_start": 661,
"aa_end": null,
"aa_length": 738,
"cds_start": 1981,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 2064,
"cdna_end": null,
"cdna_length": 2523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1B",
"gene_hgnc_id": 2329,
"hgvs_c": "c.1981C>G",
"hgvs_p": "p.Arg661Gly",
"transcript": "ENST00000457250.5",
"protein_id": "ENSP00000409342.1",
"transcript_support_level": 5,
"aa_start": 661,
"aa_end": null,
"aa_length": 738,
"cds_start": 1981,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 1981,
"cdna_end": null,
"cdna_length": 2217,
"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": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHKB-CPT1B",
"gene_hgnc_id": 41998,
"hgvs_c": "n.4286C>G",
"hgvs_p": null,
"transcript": "ENST00000492556.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 4906,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1B",
"gene_hgnc_id": 2329,
"hgvs_c": "n.802C>G",
"hgvs_p": null,
"transcript": "ENST00000497224.1",
"protein_id": null,
"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": 806,
"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": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHKB-CPT1B",
"gene_hgnc_id": 41998,
"hgvs_c": "n.3648C>G",
"hgvs_p": null,
"transcript": "NR_027928.2",
"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": 4276,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CPT1B",
"gene_hgnc_id": 2329,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.13380834460258484,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.164,
"revel_prediction": "Benign",
"alphamissense_score": 0.0895,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.085,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_152246.3",
"gene_symbol": "CPT1B",
"hgnc_id": 2329,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.2083C>G",
"hgvs_p": "p.Arg695Gly"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000453634.5",
"gene_symbol": "CHKB-CPT1B",
"hgnc_id": 41998,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*2308C>G",
"hgvs_p": null
}
],
"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
}