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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: 22-50574346-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=50574346&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 50574346,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000312108.12",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1B",
"gene_hgnc_id": 2329,
"hgvs_c": "c.959G>A",
"hgvs_p": "p.Gly320Asp",
"transcript": "NM_152246.3",
"protein_id": "NP_689452.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 772,
"cds_start": 959,
"cds_end": null,
"cds_length": 2319,
"cdna_start": 1020,
"cdna_end": null,
"cdna_length": 2603,
"mane_select": "ENST00000312108.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1B",
"gene_hgnc_id": 2329,
"hgvs_c": "c.959G>A",
"hgvs_p": "p.Gly320Asp",
"transcript": "ENST00000312108.12",
"protein_id": "ENSP00000312189.8",
"transcript_support_level": 1,
"aa_start": 320,
"aa_end": null,
"aa_length": 772,
"cds_start": 959,
"cds_end": null,
"cds_length": 2319,
"cdna_start": 1020,
"cdna_end": null,
"cdna_length": 2603,
"mane_select": "NM_152246.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1B",
"gene_hgnc_id": 2329,
"hgvs_c": "c.959G>A",
"hgvs_p": "p.Gly320Asp",
"transcript": "ENST00000395650.6",
"protein_id": "ENSP00000379011.2",
"transcript_support_level": 1,
"aa_start": 320,
"aa_end": null,
"aa_length": 772,
"cds_start": 959,
"cds_end": null,
"cds_length": 2319,
"cdna_start": 1048,
"cdna_end": null,
"cdna_length": 2662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1B",
"gene_hgnc_id": 2329,
"hgvs_c": "c.959G>A",
"hgvs_p": "p.Gly320Asp",
"transcript": "ENST00000405237.7",
"protein_id": "ENSP00000385486.3",
"transcript_support_level": 1,
"aa_start": 320,
"aa_end": null,
"aa_length": 772,
"cds_start": 959,
"cds_end": null,
"cds_length": 2319,
"cdna_start": 1064,
"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": 12,
"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.*1190G>A",
"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": 12,
"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.*1190G>A",
"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": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1B",
"gene_hgnc_id": 2329,
"hgvs_c": "c.959G>A",
"hgvs_p": "p.Gly320Asp",
"transcript": "NM_001145135.2",
"protein_id": "NP_001138607.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 772,
"cds_start": 959,
"cds_end": null,
"cds_length": 2319,
"cdna_start": 1042,
"cdna_end": null,
"cdna_length": 2625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1B",
"gene_hgnc_id": 2329,
"hgvs_c": "c.959G>A",
"hgvs_p": "p.Gly320Asp",
"transcript": "NM_001145137.2",
"protein_id": "NP_001138609.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 772,
"cds_start": 959,
"cds_end": null,
"cds_length": 2319,
"cdna_start": 1061,
"cdna_end": null,
"cdna_length": 2644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1B",
"gene_hgnc_id": 2329,
"hgvs_c": "c.959G>A",
"hgvs_p": "p.Gly320Asp",
"transcript": "NM_004377.4",
"protein_id": "NP_004368.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 772,
"cds_start": 959,
"cds_end": null,
"cds_length": 2319,
"cdna_start": 1020,
"cdna_end": null,
"cdna_length": 2857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1B",
"gene_hgnc_id": 2329,
"hgvs_c": "c.959G>A",
"hgvs_p": "p.Gly320Asp",
"transcript": "NM_152245.3",
"protein_id": "NP_689451.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 772,
"cds_start": 959,
"cds_end": null,
"cds_length": 2319,
"cdna_start": 1042,
"cdna_end": null,
"cdna_length": 2879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1B",
"gene_hgnc_id": 2329,
"hgvs_c": "c.857G>A",
"hgvs_p": "p.Gly286Asp",
"transcript": "NM_001145134.2",
"protein_id": "NP_001138606.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 738,
"cds_start": 857,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 940,
"cdna_end": null,
"cdna_length": 2523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1B",
"gene_hgnc_id": 2329,
"hgvs_c": "c.857G>A",
"hgvs_p": "p.Gly286Asp",
"transcript": "ENST00000457250.5",
"protein_id": "ENSP00000409342.1",
"transcript_support_level": 5,
"aa_start": 286,
"aa_end": null,
"aa_length": 738,
"cds_start": 857,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 857,
"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": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1B",
"gene_hgnc_id": 2329,
"hgvs_c": "n.212G>A",
"hgvs_p": null,
"transcript": "ENST00000423069.1",
"protein_id": "ENSP00000396408.1",
"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": 719,
"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": 16,
"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.3167G>A",
"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": 19,
"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.2529G>A",
"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": "CPT1B",
"gene_hgnc_id": 2329,
"hgvs_c": "n.*19G>A",
"hgvs_p": null,
"transcript": "ENST00000479886.1",
"protein_id": null,
"transcript_support_level": 1,
"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": 545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CPT1B",
"gene_hgnc_id": 2329,
"dbsnp": "rs2269383",
"frequency_reference_population": 0.015244829,
"hom_count_reference_population": 862,
"allele_count_reference_population": 24585,
"gnomad_exomes_af": 0.0130681,
"gnomad_genomes_af": 0.0361253,
"gnomad_exomes_ac": 19085,
"gnomad_genomes_ac": 5500,
"gnomad_exomes_homalt": 655,
"gnomad_genomes_homalt": 207,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.003402233123779297,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.849,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.4756,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.32,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.86,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.06,
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "PP3,BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 12,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000312108.12",
"gene_symbol": "CPT1B",
"hgnc_id": 2329,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.959G>A",
"hgvs_p": "p.Gly320Asp"
},
{
"score": -11,
"benign_score": 12,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000453634.5",
"gene_symbol": "CHKB-CPT1B",
"hgnc_id": 41998,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*1190G>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}