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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: 22-50569343-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=50569343&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 50569343,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_152246.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1B",
"gene_hgnc_id": 2329,
"hgvs_c": "c.2314A>C",
"hgvs_p": "p.Ser772Arg",
"transcript": "NM_152246.3",
"protein_id": "NP_689452.1",
"transcript_support_level": null,
"aa_start": 772,
"aa_end": null,
"aa_length": 772,
"cds_start": 2314,
"cds_end": null,
"cds_length": 2319,
"cdna_start": 2375,
"cdna_end": null,
"cdna_length": 2603,
"mane_select": "ENST00000312108.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1B",
"gene_hgnc_id": 2329,
"hgvs_c": "c.2314A>C",
"hgvs_p": "p.Ser772Arg",
"transcript": "ENST00000312108.12",
"protein_id": "ENSP00000312189.8",
"transcript_support_level": 1,
"aa_start": 772,
"aa_end": null,
"aa_length": 772,
"cds_start": 2314,
"cds_end": null,
"cds_length": 2319,
"cdna_start": 2375,
"cdna_end": null,
"cdna_length": 2603,
"mane_select": "NM_152246.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1B",
"gene_hgnc_id": 2329,
"hgvs_c": "c.2314A>C",
"hgvs_p": "p.Ser772Arg",
"transcript": "ENST00000395650.6",
"protein_id": "ENSP00000379011.2",
"transcript_support_level": 1,
"aa_start": 772,
"aa_end": null,
"aa_length": 772,
"cds_start": 2314,
"cds_end": null,
"cds_length": 2319,
"cdna_start": 2403,
"cdna_end": null,
"cdna_length": 2662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1B",
"gene_hgnc_id": 2329,
"hgvs_c": "c.2314A>C",
"hgvs_p": "p.Ser772Arg",
"transcript": "ENST00000405237.7",
"protein_id": "ENSP00000385486.3",
"transcript_support_level": 1,
"aa_start": 772,
"aa_end": null,
"aa_length": 772,
"cds_start": 2314,
"cds_end": null,
"cds_length": 2319,
"cdna_start": 2419,
"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": 22,
"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.*2539A>C",
"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": 22,
"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.*2539A>C",
"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": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1B",
"gene_hgnc_id": 2329,
"hgvs_c": "c.2314A>C",
"hgvs_p": "p.Ser772Arg",
"transcript": "NM_001145135.2",
"protein_id": "NP_001138607.1",
"transcript_support_level": null,
"aa_start": 772,
"aa_end": null,
"aa_length": 772,
"cds_start": 2314,
"cds_end": null,
"cds_length": 2319,
"cdna_start": 2397,
"cdna_end": null,
"cdna_length": 2625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1B",
"gene_hgnc_id": 2329,
"hgvs_c": "c.2314A>C",
"hgvs_p": "p.Ser772Arg",
"transcript": "NM_001145137.2",
"protein_id": "NP_001138609.1",
"transcript_support_level": null,
"aa_start": 772,
"aa_end": null,
"aa_length": 772,
"cds_start": 2314,
"cds_end": null,
"cds_length": 2319,
"cdna_start": 2416,
"cdna_end": null,
"cdna_length": 2644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1B",
"gene_hgnc_id": 2329,
"hgvs_c": "c.2314A>C",
"hgvs_p": "p.Ser772Arg",
"transcript": "NM_004377.4",
"protein_id": "NP_004368.1",
"transcript_support_level": null,
"aa_start": 772,
"aa_end": null,
"aa_length": 772,
"cds_start": 2314,
"cds_end": null,
"cds_length": 2319,
"cdna_start": 2375,
"cdna_end": null,
"cdna_length": 2857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1B",
"gene_hgnc_id": 2329,
"hgvs_c": "c.2314A>C",
"hgvs_p": "p.Ser772Arg",
"transcript": "NM_152245.3",
"protein_id": "NP_689451.1",
"transcript_support_level": null,
"aa_start": 772,
"aa_end": null,
"aa_length": 772,
"cds_start": 2314,
"cds_end": null,
"cds_length": 2319,
"cdna_start": 2397,
"cdna_end": null,
"cdna_length": 2879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1B",
"gene_hgnc_id": 2329,
"hgvs_c": "c.2212A>C",
"hgvs_p": "p.Ser738Arg",
"transcript": "NM_001145134.2",
"protein_id": "NP_001138606.1",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 738,
"cds_start": 2212,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 2295,
"cdna_end": null,
"cdna_length": 2523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1B",
"gene_hgnc_id": 2329,
"hgvs_c": "c.2212A>C",
"hgvs_p": "p.Ser738Arg",
"transcript": "ENST00000457250.5",
"protein_id": "ENSP00000409342.1",
"transcript_support_level": 5,
"aa_start": 738,
"aa_end": null,
"aa_length": 738,
"cds_start": 2212,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 2212,
"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": 26,
"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.4517A>C",
"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": 29,
"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.3879A>C",
"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
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC107985568",
"gene_hgnc_id": null,
"hgvs_c": "n.*200T>G",
"hgvs_p": null,
"transcript": "XR_001755606.3",
"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": 1144,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CPT1B",
"gene_hgnc_id": 2329,
"dbsnp": "rs150762471",
"frequency_reference_population": 0.000026022595,
"hom_count_reference_population": 0,
"allele_count_reference_population": 42,
"gnomad_exomes_af": 0.000014366,
"gnomad_genomes_af": 0.000137975,
"gnomad_exomes_ac": 21,
"gnomad_genomes_ac": 21,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04943668842315674,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.10000000149011612,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.233,
"revel_prediction": "Benign",
"alphamissense_score": 0.1314,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.211,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.1,
"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_152246.3",
"gene_symbol": "CPT1B",
"hgnc_id": 2329,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.2314A>C",
"hgvs_p": "p.Ser772Arg"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000453634.5",
"gene_symbol": "CHKB-CPT1B",
"hgnc_id": 41998,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*2539A>C",
"hgvs_p": null
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "XR_001755606.3",
"gene_symbol": "LOC107985568",
"hgnc_id": null,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*200T>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
}