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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: 18-2923861-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=2923861&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 2923861,
"ref": "C",
"alt": "T",
"effect": "splice_region_variant,synonymous_variant",
"transcript": "ENST00000677752.1",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN2",
"gene_hgnc_id": 14450,
"hgvs_c": "c.2088G>A",
"hgvs_p": "p.Lys696Lys",
"transcript": "NM_001375808.2",
"protein_id": "NP_001362737.1",
"transcript_support_level": null,
"aa_start": 696,
"aa_end": null,
"aa_length": 896,
"cds_start": 2088,
"cds_end": null,
"cds_length": 2691,
"cdna_start": 2155,
"cdna_end": null,
"cdna_length": 6052,
"mane_select": "ENST00000677752.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN2",
"gene_hgnc_id": 14450,
"hgvs_c": "c.2088G>A",
"hgvs_p": "p.Lys696Lys",
"transcript": "ENST00000677752.1",
"protein_id": "ENSP00000504857.1",
"transcript_support_level": null,
"aa_start": 696,
"aa_end": null,
"aa_length": 896,
"cds_start": 2088,
"cds_end": null,
"cds_length": 2691,
"cdna_start": 2155,
"cdna_end": null,
"cdna_length": 6052,
"mane_select": "NM_001375808.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN2",
"gene_hgnc_id": 14450,
"hgvs_c": "c.2088G>A",
"hgvs_p": "p.Lys696Lys",
"transcript": "ENST00000261596.9",
"protein_id": "ENSP00000261596.4",
"transcript_support_level": 1,
"aa_start": 696,
"aa_end": null,
"aa_length": 896,
"cds_start": 2088,
"cds_end": null,
"cds_length": 2691,
"cdna_start": 2397,
"cdna_end": null,
"cdna_length": 6299,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN2",
"gene_hgnc_id": 14450,
"hgvs_c": "c.2088G>A",
"hgvs_p": "p.Lys696Lys",
"transcript": "NM_001375809.1",
"protein_id": "NP_001362738.1",
"transcript_support_level": null,
"aa_start": 696,
"aa_end": null,
"aa_length": 896,
"cds_start": 2088,
"cds_end": null,
"cds_length": 2691,
"cdna_start": 2205,
"cdna_end": null,
"cdna_length": 6102,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN2",
"gene_hgnc_id": 14450,
"hgvs_c": "c.2088G>A",
"hgvs_p": "p.Lys696Lys",
"transcript": "NM_014646.2",
"protein_id": "NP_055461.1",
"transcript_support_level": null,
"aa_start": 696,
"aa_end": null,
"aa_length": 896,
"cds_start": 2088,
"cds_end": null,
"cds_length": 2691,
"cdna_start": 2327,
"cdna_end": null,
"cdna_length": 6229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN2",
"gene_hgnc_id": 14450,
"hgvs_c": "c.2088G>A",
"hgvs_p": "p.Lys696Lys",
"transcript": "ENST00000697040.1",
"protein_id": "ENSP00000513062.1",
"transcript_support_level": null,
"aa_start": 696,
"aa_end": null,
"aa_length": 896,
"cds_start": 2088,
"cds_end": null,
"cds_length": 2691,
"cdna_start": 2203,
"cdna_end": null,
"cdna_length": 6092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN2",
"gene_hgnc_id": 14450,
"hgvs_c": "c.2088G>A",
"hgvs_p": "p.Lys696Lys",
"transcript": "ENST00000697039.1",
"protein_id": "ENSP00000513061.1",
"transcript_support_level": null,
"aa_start": 696,
"aa_end": null,
"aa_length": 853,
"cds_start": 2088,
"cds_end": null,
"cds_length": 2562,
"cdna_start": 2155,
"cdna_end": null,
"cdna_length": 2752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN2",
"gene_hgnc_id": 14450,
"hgvs_c": "c.783G>A",
"hgvs_p": "p.Lys261Lys",
"transcript": "ENST00000697041.1",
"protein_id": "ENSP00000513063.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 414,
"cds_start": 783,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 783,
"cdna_end": null,
"cdna_length": 4910,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN2",
"gene_hgnc_id": 14450,
"hgvs_c": "c.2199G>A",
"hgvs_p": "p.Lys733Lys",
"transcript": "XM_005258177.5",
"protein_id": "XP_005258234.1",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 933,
"cds_start": 2199,
"cds_end": null,
"cds_length": 2802,
"cdna_start": 2277,
"cdna_end": null,
"cdna_length": 6179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN2",
"gene_hgnc_id": 14450,
"hgvs_c": "c.2100G>A",
"hgvs_p": "p.Lys700Lys",
"transcript": "XM_047437958.1",
"protein_id": "XP_047293914.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 900,
"cds_start": 2100,
"cds_end": null,
"cds_length": 2703,
"cdna_start": 2587,
"cdna_end": null,
"cdna_length": 6489,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN2",
"gene_hgnc_id": 14450,
"hgvs_c": "c.2088G>A",
"hgvs_p": "p.Lys696Lys",
"transcript": "XM_017026099.2",
"protein_id": "XP_016881588.1",
"transcript_support_level": null,
"aa_start": 696,
"aa_end": null,
"aa_length": 896,
"cds_start": 2088,
"cds_end": null,
"cds_length": 2691,
"cdna_start": 2191,
"cdna_end": null,
"cdna_length": 6093,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LPIN2",
"gene_hgnc_id": 14450,
"hgvs_c": "c.2088G>A",
"hgvs_p": "p.Lys696Lys",
"transcript": "XM_047437959.1",
"protein_id": "XP_047293915.1",
"transcript_support_level": null,
"aa_start": 696,
"aa_end": null,
"aa_length": 896,
"cds_start": 2088,
"cds_end": null,
"cds_length": 2691,
"cdna_start": 6045,
"cdna_end": null,
"cdna_length": 9947,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "LPIN2",
"gene_hgnc_id": 14450,
"dbsnp": "rs778440902",
"frequency_reference_population": 0.000013001428,
"hom_count_reference_population": 1,
"allele_count_reference_population": 19,
"gnomad_exomes_af": 0.0000130014,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 19,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4300000071525574,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.38999998569488525,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.347,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.06,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0623799935188228,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6,BP7,BS1",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6",
"BP7",
"BS1"
],
"verdict": "Benign",
"transcript": "ENST00000677752.1",
"gene_symbol": "LPIN2",
"hgnc_id": 14450,
"effects": [
"splice_region_variant",
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2088G>A",
"hgvs_p": "p.Lys696Lys"
}
],
"clinvar_disease": "Inborn genetic diseases,Majeed syndrome",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"phenotype_combined": "Majeed syndrome|Inborn genetic diseases",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}