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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: 2-11743854-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=11743854&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 11743854,
"ref": "T",
"alt": "C",
"effect": "non_coding_transcript_exon_variant",
"transcript": "XR_007086220.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.9+2426T>C",
"hgvs_p": null,
"transcript": "ENST00000396098.5",
"protein_id": "ENSP00000379405.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 459,
"cds_start": -4,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1761,
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC124907735",
"gene_hgnc_id": null,
"hgvs_c": "n.1606A>G",
"hgvs_p": null,
"transcript": "XR_007086220.1",
"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": 2999,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.139-21679T>C",
"hgvs_p": null,
"transcript": "NM_001261428.3",
"protein_id": "NP_001248357.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 975,
"cds_start": -4,
"cds_end": null,
"cds_length": 2928,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5650,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.139-21679T>C",
"hgvs_p": null,
"transcript": "ENST00000449576.6",
"protein_id": "ENSP00000397908.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 975,
"cds_start": -4,
"cds_end": null,
"cds_length": 2928,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3077,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.82-21679T>C",
"hgvs_p": null,
"transcript": "NM_001349207.2",
"protein_id": "NP_001336136.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 956,
"cds_start": -4,
"cds_end": null,
"cds_length": 2871,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.139-21679T>C",
"hgvs_p": null,
"transcript": "NM_001349208.2",
"protein_id": "NP_001336137.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 939,
"cds_start": -4,
"cds_end": null,
"cds_length": 2820,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5542,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.9+2426T>C",
"hgvs_p": null,
"transcript": "ENST00000396097.5",
"protein_id": "ENSP00000379404.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 932,
"cds_start": -4,
"cds_end": null,
"cds_length": 2799,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.9+2426T>C",
"hgvs_p": null,
"transcript": "NM_001261427.3",
"protein_id": "NP_001248356.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 896,
"cds_start": -4,
"cds_end": null,
"cds_length": 2691,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5605,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "c.9+2426T>C",
"hgvs_p": null,
"transcript": "ENST00000425416.6",
"protein_id": "ENSP00000401522.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 896,
"cds_start": -4,
"cds_end": null,
"cds_length": 2691,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "n.9+2426T>C",
"hgvs_p": null,
"transcript": "ENST00000396099.5",
"protein_id": "ENSP00000379406.2",
"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": 3228,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000230790",
"gene_hgnc_id": null,
"hgvs_c": "n.135+1313A>G",
"hgvs_p": null,
"transcript": "ENST00000431500.2",
"protein_id": null,
"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": 561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "n.374-2053T>C",
"hgvs_p": null,
"transcript": "ENST00000464517.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "n.374-2107T>C",
"hgvs_p": null,
"transcript": "ENST00000480315.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 543,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LPIN1",
"gene_hgnc_id": 13345,
"hgvs_c": "n.511+1703T>C",
"hgvs_p": null,
"transcript": "ENST00000495907.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "LOC124907735",
"gene_hgnc_id": null,
"dbsnp": "rs4669778",
"frequency_reference_population": 0.52868646,
"hom_count_reference_population": 22765,
"allele_count_reference_population": 80354,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.528686,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 80354,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 22765,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8700000047683716,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.87,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.508,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "XR_007086220.1",
"gene_symbol": "LOC124907735",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1606A>G",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001261428.3",
"gene_symbol": "LPIN1",
"hgnc_id": 13345,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.139-21679T>C",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000431500.2",
"gene_symbol": "ENSG00000230790",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.135+1313A>G",
"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
}