← 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: 11-68784951-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=68784951&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 68784951,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000265641.10",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1A",
"gene_hgnc_id": 2328,
"hgvs_c": "c.1027T>G",
"hgvs_p": "p.Phe343Val",
"transcript": "NM_001876.4",
"protein_id": "NP_001867.2",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 773,
"cds_start": 1027,
"cds_end": null,
"cds_length": 2322,
"cdna_start": 1182,
"cdna_end": null,
"cdna_length": 5238,
"mane_select": "ENST00000265641.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1A",
"gene_hgnc_id": 2328,
"hgvs_c": "c.1027T>G",
"hgvs_p": "p.Phe343Val",
"transcript": "ENST00000265641.10",
"protein_id": "ENSP00000265641.4",
"transcript_support_level": 1,
"aa_start": 343,
"aa_end": null,
"aa_length": 773,
"cds_start": 1027,
"cds_end": null,
"cds_length": 2322,
"cdna_start": 1182,
"cdna_end": null,
"cdna_length": 5238,
"mane_select": "NM_001876.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1A",
"gene_hgnc_id": 2328,
"hgvs_c": "c.1027T>G",
"hgvs_p": "p.Phe343Val",
"transcript": "ENST00000376618.6",
"protein_id": "ENSP00000365803.2",
"transcript_support_level": 1,
"aa_start": 343,
"aa_end": null,
"aa_length": 756,
"cds_start": 1027,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 1197,
"cdna_end": null,
"cdna_length": 2635,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1A",
"gene_hgnc_id": 2328,
"hgvs_c": "c.1027T>G",
"hgvs_p": "p.Phe343Val",
"transcript": "ENST00000540367.5",
"protein_id": "ENSP00000439084.1",
"transcript_support_level": 1,
"aa_start": 343,
"aa_end": null,
"aa_length": 756,
"cds_start": 1027,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 1056,
"cdna_end": null,
"cdna_length": 2496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1A",
"gene_hgnc_id": 2328,
"hgvs_c": "c.1027T>G",
"hgvs_p": "p.Phe343Val",
"transcript": "NM_001440358.1",
"protein_id": "NP_001427287.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 773,
"cds_start": 1027,
"cds_end": null,
"cds_length": 2322,
"cdna_start": 1173,
"cdna_end": null,
"cdna_length": 5229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1A",
"gene_hgnc_id": 2328,
"hgvs_c": "c.1027T>G",
"hgvs_p": "p.Phe343Val",
"transcript": "NM_001440359.1",
"protein_id": "NP_001427288.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 773,
"cds_start": 1027,
"cds_end": null,
"cds_length": 2322,
"cdna_start": 2048,
"cdna_end": null,
"cdna_length": 6104,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1A",
"gene_hgnc_id": 2328,
"hgvs_c": "c.1027T>G",
"hgvs_p": "p.Phe343Val",
"transcript": "ENST00000539743.5",
"protein_id": "ENSP00000446108.1",
"transcript_support_level": 5,
"aa_start": 343,
"aa_end": null,
"aa_length": 773,
"cds_start": 1027,
"cds_end": null,
"cds_length": 2322,
"cdna_start": 1056,
"cdna_end": null,
"cdna_length": 2382,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1A",
"gene_hgnc_id": 2328,
"hgvs_c": "c.1027T>G",
"hgvs_p": "p.Phe343Val",
"transcript": "NM_001031847.3",
"protein_id": "NP_001027017.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 756,
"cds_start": 1027,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 1182,
"cdna_end": null,
"cdna_length": 2622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1A",
"gene_hgnc_id": 2328,
"hgvs_c": "c.1027T>G",
"hgvs_p": "p.Phe343Val",
"transcript": "NM_001440360.1",
"protein_id": "NP_001427289.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 756,
"cds_start": 1027,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 2048,
"cdna_end": null,
"cdna_length": 3488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1A",
"gene_hgnc_id": 2328,
"hgvs_c": "c.1027T>G",
"hgvs_p": "p.Phe343Val",
"transcript": "NM_001440362.1",
"protein_id": "NP_001427291.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 742,
"cds_start": 1027,
"cds_end": null,
"cds_length": 2229,
"cdna_start": 1182,
"cdna_end": null,
"cdna_length": 5145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1A",
"gene_hgnc_id": 2328,
"hgvs_c": "c.919T>G",
"hgvs_p": "p.Phe307Val",
"transcript": "NM_001440363.1",
"protein_id": "NP_001427292.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 737,
"cds_start": 919,
"cds_end": null,
"cds_length": 2214,
"cdna_start": 1065,
"cdna_end": null,
"cdna_length": 5121,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1A",
"gene_hgnc_id": 2328,
"hgvs_c": "c.1027T>G",
"hgvs_p": "p.Phe343Val",
"transcript": "NM_001440364.1",
"protein_id": "NP_001427293.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 722,
"cds_start": 1027,
"cds_end": null,
"cds_length": 2169,
"cdna_start": 1182,
"cdna_end": null,
"cdna_length": 5085,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1A",
"gene_hgnc_id": 2328,
"hgvs_c": "c.841T>G",
"hgvs_p": "p.Phe281Val",
"transcript": "NM_001440365.1",
"protein_id": "NP_001427294.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 711,
"cds_start": 841,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 996,
"cdna_end": null,
"cdna_length": 5052,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CPT1A",
"gene_hgnc_id": 2328,
"dbsnp": "rs80356783",
"frequency_reference_population": 0.0000027362962,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.0000027363,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.990593433380127,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.975,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8247,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.48,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.993,
"phylop100way_prediction": "Pathogenic",
"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": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong,PP5",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM2",
"PP3_Strong",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000265641.10",
"gene_symbol": "CPT1A",
"hgnc_id": 2328,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1027T>G",
"hgvs_p": "p.Phe343Val"
}
],
"clinvar_disease": "Carnitine palmitoyl transferase 1A deficiency,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:2 US:2 O:1",
"phenotype_combined": "Carnitine palmitoyl transferase 1A deficiency|not specified|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}