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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: 11-68757723-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=68757723&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 68757723,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001876.4",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "P",
"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": "CPT1A",
"gene_hgnc_id": 2328,
"hgvs_c": "c.2243A>C",
"hgvs_p": "p.His748Pro",
"transcript": "NM_001876.4",
"protein_id": "NP_001867.2",
"transcript_support_level": null,
"aa_start": 748,
"aa_end": null,
"aa_length": 773,
"cds_start": 2243,
"cds_end": null,
"cds_length": 2322,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000265641.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001876.4"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": true,
"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": "CPT1A",
"gene_hgnc_id": 2328,
"hgvs_c": "c.2243A>C",
"hgvs_p": "p.His748Pro",
"transcript": "ENST00000265641.10",
"protein_id": "ENSP00000265641.4",
"transcript_support_level": 1,
"aa_start": 748,
"aa_end": null,
"aa_length": 773,
"cds_start": 2243,
"cds_end": null,
"cds_length": 2322,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001876.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265641.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "CPT1A",
"gene_hgnc_id": 2328,
"hgvs_c": "c.2235+1846A>C",
"hgvs_p": null,
"transcript": "ENST00000376618.6",
"protein_id": "ENSP00000365803.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 756,
"cds_start": null,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376618.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "CPT1A",
"gene_hgnc_id": 2328,
"hgvs_c": "c.2235+1846A>C",
"hgvs_p": null,
"transcript": "ENST00000540367.5",
"protein_id": "ENSP00000439084.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 756,
"cds_start": null,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540367.5"
},
{
"aa_ref": "H",
"aa_alt": "P",
"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": "CPT1A",
"gene_hgnc_id": 2328,
"hgvs_c": "c.2243A>C",
"hgvs_p": "p.His748Pro",
"transcript": "NM_001440358.1",
"protein_id": "NP_001427287.1",
"transcript_support_level": null,
"aa_start": 748,
"aa_end": null,
"aa_length": 773,
"cds_start": 2243,
"cds_end": null,
"cds_length": 2322,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440358.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1A",
"gene_hgnc_id": 2328,
"hgvs_c": "c.2243A>C",
"hgvs_p": "p.His748Pro",
"transcript": "NM_001440359.1",
"protein_id": "NP_001427288.1",
"transcript_support_level": null,
"aa_start": 748,
"aa_end": null,
"aa_length": 773,
"cds_start": 2243,
"cds_end": null,
"cds_length": 2322,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440359.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1A",
"gene_hgnc_id": 2328,
"hgvs_c": "c.2243A>C",
"hgvs_p": "p.His748Pro",
"transcript": "ENST00000539743.5",
"protein_id": "ENSP00000446108.1",
"transcript_support_level": 5,
"aa_start": 748,
"aa_end": null,
"aa_length": 773,
"cds_start": 2243,
"cds_end": null,
"cds_length": 2322,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539743.5"
},
{
"aa_ref": "H",
"aa_alt": "P",
"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": "CPT1A",
"gene_hgnc_id": 2328,
"hgvs_c": "c.2243A>C",
"hgvs_p": "p.His748Pro",
"transcript": "ENST00000867662.1",
"protein_id": "ENSP00000537721.1",
"transcript_support_level": null,
"aa_start": 748,
"aa_end": null,
"aa_length": 773,
"cds_start": 2243,
"cds_end": null,
"cds_length": 2322,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867662.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1A",
"gene_hgnc_id": 2328,
"hgvs_c": "c.2150A>C",
"hgvs_p": "p.His717Pro",
"transcript": "NM_001440362.1",
"protein_id": "NP_001427291.1",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
"aa_length": 742,
"cds_start": 2150,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440362.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1A",
"gene_hgnc_id": 2328,
"hgvs_c": "c.2150A>C",
"hgvs_p": "p.His717Pro",
"transcript": "ENST00000867661.1",
"protein_id": "ENSP00000537720.1",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
"aa_length": 742,
"cds_start": 2150,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867661.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1A",
"gene_hgnc_id": 2328,
"hgvs_c": "c.2135A>C",
"hgvs_p": "p.His712Pro",
"transcript": "NM_001440363.1",
"protein_id": "NP_001427292.1",
"transcript_support_level": null,
"aa_start": 712,
"aa_end": null,
"aa_length": 737,
"cds_start": 2135,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440363.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1A",
"gene_hgnc_id": 2328,
"hgvs_c": "c.2135A>C",
"hgvs_p": "p.His712Pro",
"transcript": "ENST00000966632.1",
"protein_id": "ENSP00000636691.1",
"transcript_support_level": null,
"aa_start": 712,
"aa_end": null,
"aa_length": 737,
"cds_start": 2135,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966632.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1A",
"gene_hgnc_id": 2328,
"hgvs_c": "c.2090A>C",
"hgvs_p": "p.His697Pro",
"transcript": "NM_001440364.1",
"protein_id": "NP_001427293.1",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 722,
"cds_start": 2090,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440364.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1A",
"gene_hgnc_id": 2328,
"hgvs_c": "c.2090A>C",
"hgvs_p": "p.His697Pro",
"transcript": "ENST00000966631.1",
"protein_id": "ENSP00000636690.1",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 722,
"cds_start": 2090,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966631.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"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": "CPT1A",
"gene_hgnc_id": 2328,
"hgvs_c": "c.2057A>C",
"hgvs_p": "p.His686Pro",
"transcript": "NM_001440365.1",
"protein_id": "NP_001427294.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 711,
"cds_start": 2057,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440365.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "CPT1A",
"gene_hgnc_id": 2328,
"hgvs_c": "c.2235+1846A>C",
"hgvs_p": null,
"transcript": "NM_001031847.3",
"protein_id": "NP_001027017.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 756,
"cds_start": null,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001031847.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "CPT1A",
"gene_hgnc_id": 2328,
"hgvs_c": "c.2235+1846A>C",
"hgvs_p": null,
"transcript": "NM_001440360.1",
"protein_id": "NP_001427289.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 756,
"cds_start": null,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440360.1"
}
],
"gene_symbol": "CPT1A",
"gene_hgnc_id": 2328,
"dbsnp": "rs900349852",
"frequency_reference_population": null,
"hom_count_reference_population": null,
"allele_count_reference_population": null,
"gnomad_exomes_af": 0.0000109533,
"gnomad_genomes_af": 0.00000656616,
"gnomad_exomes_ac": 16,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8346657752990723,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.79,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.3854,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.35,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.102,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001876.4",
"gene_symbol": "CPT1A",
"hgnc_id": 2328,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2243A>C",
"hgvs_p": "p.His748Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}