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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: 11-68773404-AG-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=68773404&ref=AG&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2"
],
"effects": [
"frameshift_variant"
],
"gene_symbol": "CPT1A",
"hgnc_id": 2328,
"hgvs_c": "c.1600delC",
"hgvs_p": "p.Leu534fs",
"inheritance_mode": "AR",
"pathogenic_score": 10,
"score": 10,
"transcript": "NM_001876.4",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2",
"acmg_score": 10,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "11",
"clinvar_classification": "not provided",
"clinvar_disease": "Carnitine palmitoyl transferase 1A deficiency",
"clinvar_review_status": "no classification provided",
"clinvar_submissions_summary": "O:1",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 773,
"aa_ref": "L",
"aa_start": 534,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5238,
"cdna_start": 1755,
"cds_end": null,
"cds_length": 2322,
"cds_start": 1600,
"consequences": [
"frameshift_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001876.4",
"gene_hgnc_id": 2328,
"gene_symbol": "CPT1A",
"hgvs_c": "c.1600delC",
"hgvs_p": "p.Leu534fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000265641.10",
"protein_coding": true,
"protein_id": "NP_001867.2",
"strand": false,
"transcript": "NM_001876.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 773,
"aa_ref": "L",
"aa_start": 534,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5238,
"cdna_start": 1755,
"cds_end": null,
"cds_length": 2322,
"cds_start": 1600,
"consequences": [
"frameshift_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000265641.10",
"gene_hgnc_id": 2328,
"gene_symbol": "CPT1A",
"hgvs_c": "c.1600delC",
"hgvs_p": "p.Leu534fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001876.4",
"protein_coding": true,
"protein_id": "ENSP00000265641.4",
"strand": false,
"transcript": "ENST00000265641.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 756,
"aa_ref": "L",
"aa_start": 534,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2635,
"cdna_start": 1770,
"cds_end": null,
"cds_length": 2271,
"cds_start": 1600,
"consequences": [
"frameshift_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000376618.6",
"gene_hgnc_id": 2328,
"gene_symbol": "CPT1A",
"hgvs_c": "c.1600delC",
"hgvs_p": "p.Leu534fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000365803.2",
"strand": false,
"transcript": "ENST00000376618.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 756,
"aa_ref": "L",
"aa_start": 534,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2496,
"cdna_start": 1629,
"cds_end": null,
"cds_length": 2271,
"cds_start": 1600,
"consequences": [
"frameshift_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000540367.5",
"gene_hgnc_id": 2328,
"gene_symbol": "CPT1A",
"hgvs_c": "c.1600delC",
"hgvs_p": "p.Leu534fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000439084.1",
"strand": false,
"transcript": "ENST00000540367.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 773,
"aa_ref": "L",
"aa_start": 534,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5229,
"cdna_start": 1746,
"cds_end": null,
"cds_length": 2322,
"cds_start": 1600,
"consequences": [
"frameshift_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001440358.1",
"gene_hgnc_id": 2328,
"gene_symbol": "CPT1A",
"hgvs_c": "c.1600delC",
"hgvs_p": "p.Leu534fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427287.1",
"strand": false,
"transcript": "NM_001440358.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 773,
"aa_ref": "L",
"aa_start": 534,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6104,
"cdna_start": 2621,
"cds_end": null,
"cds_length": 2322,
"cds_start": 1600,
"consequences": [
"frameshift_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001440359.1",
"gene_hgnc_id": 2328,
"gene_symbol": "CPT1A",
"hgvs_c": "c.1600delC",
"hgvs_p": "p.Leu534fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427288.1",
"strand": false,
"transcript": "NM_001440359.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 773,
"aa_ref": "L",
"aa_start": 534,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2382,
"cdna_start": 1629,
"cds_end": null,
"cds_length": 2322,
"cds_start": 1600,
"consequences": [
"frameshift_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000539743.5",
"gene_hgnc_id": 2328,
"gene_symbol": "CPT1A",
"hgvs_c": "c.1600delC",
"hgvs_p": "p.Leu534fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000446108.1",
"strand": false,
"transcript": "ENST00000539743.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 773,
"aa_ref": "L",
"aa_start": 534,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3604,
"cdna_start": 1786,
"cds_end": null,
"cds_length": 2322,
"cds_start": 1600,
"consequences": [
"frameshift_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000867662.1",
"gene_hgnc_id": 2328,
"gene_symbol": "CPT1A",
"hgvs_c": "c.1600delC",
"hgvs_p": "p.Leu534fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537721.1",
"strand": false,
"transcript": "ENST00000867662.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 756,
"aa_ref": "L",
"aa_start": 534,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2622,
"cdna_start": 1755,
"cds_end": null,
"cds_length": 2271,
"cds_start": 1600,
"consequences": [
"frameshift_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001031847.3",
"gene_hgnc_id": 2328,
"gene_symbol": "CPT1A",
"hgvs_c": "c.1600delC",
"hgvs_p": "p.Leu534fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001027017.1",
"strand": false,
"transcript": "NM_001031847.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 756,
"aa_ref": "L",
"aa_start": 534,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3488,
"cdna_start": 2621,
"cds_end": null,
"cds_length": 2271,
"cds_start": 1600,
"consequences": [
"frameshift_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001440360.1",
"gene_hgnc_id": 2328,
"gene_symbol": "CPT1A",
"hgvs_c": "c.1600delC",
"hgvs_p": "p.Leu534fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427289.1",
"strand": false,
"transcript": "NM_001440360.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 742,
"aa_ref": "L",
"aa_start": 534,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5145,
"cdna_start": 1755,
"cds_end": null,
"cds_length": 2229,
"cds_start": 1600,
"consequences": [
"frameshift_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001440362.1",
"gene_hgnc_id": 2328,
"gene_symbol": "CPT1A",
"hgvs_c": "c.1600delC",
"hgvs_p": "p.Leu534fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427291.1",
"strand": false,
"transcript": "NM_001440362.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 742,
"aa_ref": "L",
"aa_start": 534,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3272,
"cdna_start": 1754,
"cds_end": null,
"cds_length": 2229,
"cds_start": 1600,
"consequences": [
"frameshift_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000867661.1",
"gene_hgnc_id": 2328,
"gene_symbol": "CPT1A",
"hgvs_c": "c.1600delC",
"hgvs_p": "p.Leu534fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537720.1",
"strand": false,
"transcript": "ENST00000867661.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 737,
"aa_ref": "L",
"aa_start": 498,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5121,
"cdna_start": 1638,
"cds_end": null,
"cds_length": 2214,
"cds_start": 1492,
"consequences": [
"frameshift_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001440363.1",
"gene_hgnc_id": 2328,
"gene_symbol": "CPT1A",
"hgvs_c": "c.1492delC",
"hgvs_p": "p.Leu498fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427292.1",
"strand": false,
"transcript": "NM_001440363.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 737,
"aa_ref": "L",
"aa_start": 498,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2421,
"cdna_start": 1569,
"cds_end": null,
"cds_length": 2214,
"cds_start": 1492,
"consequences": [
"frameshift_variant"
],
"exon_count": 18,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000966632.1",
"gene_hgnc_id": 2328,
"gene_symbol": "CPT1A",
"hgvs_c": "c.1492delC",
"hgvs_p": "p.Leu498fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636691.1",
"strand": false,
"transcript": "ENST00000966632.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 722,
"aa_ref": "L",
"aa_start": 534,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5085,
"cdna_start": 1755,
"cds_end": null,
"cds_length": 2169,
"cds_start": 1600,
"consequences": [
"frameshift_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001440364.1",
"gene_hgnc_id": 2328,
"gene_symbol": "CPT1A",
"hgvs_c": "c.1600delC",
"hgvs_p": "p.Leu534fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427293.1",
"strand": false,
"transcript": "NM_001440364.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 722,
"aa_ref": "L",
"aa_start": 534,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3130,
"cdna_start": 1779,
"cds_end": null,
"cds_length": 2169,
"cds_start": 1600,
"consequences": [
"frameshift_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000966631.1",
"gene_hgnc_id": 2328,
"gene_symbol": "CPT1A",
"hgvs_c": "c.1600delC",
"hgvs_p": "p.Leu534fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636690.1",
"strand": false,
"transcript": "ENST00000966631.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 711,
"aa_ref": "L",
"aa_start": 472,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5052,
"cdna_start": 1569,
"cds_end": null,
"cds_length": 2136,
"cds_start": 1414,
"consequences": [
"frameshift_variant"
],
"exon_count": 17,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001440365.1",
"gene_hgnc_id": 2328,
"gene_symbol": "CPT1A",
"hgvs_c": "c.1414delC",
"hgvs_p": "p.Leu472fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427294.1",
"strand": false,
"transcript": "NM_001440365.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 585,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000537756.2",
"gene_hgnc_id": 2328,
"gene_symbol": "CPT1A",
"hgvs_c": "n.310delC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000537756.2",
"transcript_support_level": 4
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs80356801",
"effect": "frameshift_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 2328,
"gene_symbol": "CPT1A",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "not provided",
"phenotype_combined": "Carnitine palmitoyl transferase 1A deficiency",
"phylop100way_prediction": "Benign",
"phylop100way_score": 3.216,
"pos": 68773404,
"ref": "AG",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001876.4"
}
]
}