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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: 19-41838148-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=41838148&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 41838148,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_173506.7",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYPD4",
"gene_hgnc_id": 28659,
"hgvs_c": "c.325G>A",
"hgvs_p": "p.Val109Ile",
"transcript": "NM_173506.7",
"protein_id": "NP_775777.3",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 246,
"cds_start": 325,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000609812.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173506.7"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYPD4",
"gene_hgnc_id": 28659,
"hgvs_c": "c.325G>A",
"hgvs_p": "p.Val109Ile",
"transcript": "ENST00000609812.6",
"protein_id": "ENSP00000476510.1",
"transcript_support_level": 1,
"aa_start": 109,
"aa_end": null,
"aa_length": 246,
"cds_start": 325,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_173506.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000609812.6"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYPD4",
"gene_hgnc_id": 28659,
"hgvs_c": "c.220G>A",
"hgvs_p": "p.Val74Ile",
"transcript": "ENST00000343055.5",
"protein_id": "ENSP00000339568.4",
"transcript_support_level": 1,
"aa_start": 74,
"aa_end": null,
"aa_length": 211,
"cds_start": 220,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000343055.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYPD4",
"gene_hgnc_id": 28659,
"hgvs_c": "c.220G>A",
"hgvs_p": "p.Val74Ile",
"transcript": "NM_001291419.2",
"protein_id": "NP_001278348.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 211,
"cds_start": 220,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291419.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYPD4",
"gene_hgnc_id": 28659,
"hgvs_c": "c.220G>A",
"hgvs_p": "p.Val74Ile",
"transcript": "ENST00000601246.5",
"protein_id": "ENSP00000472570.1",
"transcript_support_level": 5,
"aa_start": 74,
"aa_end": null,
"aa_length": 211,
"cds_start": 220,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000601246.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYPD4",
"gene_hgnc_id": 28659,
"hgvs_c": "c.364G>A",
"hgvs_p": "p.Val122Ile",
"transcript": "XM_005258543.3",
"protein_id": "XP_005258600.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 259,
"cds_start": 364,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005258543.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYPD4",
"gene_hgnc_id": 28659,
"hgvs_c": "c.364G>A",
"hgvs_p": "p.Val122Ile",
"transcript": "XM_005278383.6",
"protein_id": "XP_005278440.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 259,
"cds_start": 364,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005278383.6"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYPD4",
"gene_hgnc_id": 28659,
"hgvs_c": "c.364G>A",
"hgvs_p": "p.Val122Ile",
"transcript": "XM_011526483.2",
"protein_id": "XP_011524785.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 259,
"cds_start": 364,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526483.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYPD4",
"gene_hgnc_id": 28659,
"hgvs_c": "c.364G>A",
"hgvs_p": "p.Val122Ile",
"transcript": "XM_011526484.3",
"protein_id": "XP_011524786.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 259,
"cds_start": 364,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526484.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYPD4",
"gene_hgnc_id": 28659,
"hgvs_c": "c.352G>A",
"hgvs_p": "p.Val118Ile",
"transcript": "XM_006723035.3",
"protein_id": "XP_006723098.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 255,
"cds_start": 352,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006723035.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYPD4",
"gene_hgnc_id": 28659,
"hgvs_c": "c.364G>A",
"hgvs_p": "p.Val122Ile",
"transcript": "XM_005278385.6",
"protein_id": "XP_005278442.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 254,
"cds_start": 364,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005278385.6"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYPD4",
"gene_hgnc_id": 28659,
"hgvs_c": "c.325G>A",
"hgvs_p": "p.Val109Ile",
"transcript": "XM_024451373.2",
"protein_id": "XP_024307141.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 246,
"cds_start": 325,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024451373.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYPD4",
"gene_hgnc_id": 28659,
"hgvs_c": "c.325G>A",
"hgvs_p": "p.Val109Ile",
"transcript": "XM_024451375.2",
"protein_id": "XP_024307143.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 241,
"cds_start": 325,
"cds_end": null,
"cds_length": 726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024451375.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYPD4",
"gene_hgnc_id": 28659,
"hgvs_c": "c.364G>A",
"hgvs_p": "p.Val122Ile",
"transcript": "XM_005278387.6",
"protein_id": "XP_005278444.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 210,
"cds_start": 364,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005278387.6"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYPD4",
"gene_hgnc_id": 28659,
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Val60Ile",
"transcript": "XM_005278388.5",
"protein_id": "XP_005278445.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 197,
"cds_start": 178,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005278388.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYPD4",
"gene_hgnc_id": 28659,
"hgvs_c": "c.325G>A",
"hgvs_p": "p.Val109Ile",
"transcript": "XM_024451376.2",
"protein_id": "XP_024307144.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 197,
"cds_start": 325,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024451376.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYPD4",
"gene_hgnc_id": 28659,
"hgvs_c": "c.325G>A",
"hgvs_p": "p.Val109Ile",
"transcript": "XM_024451378.2",
"protein_id": "XP_024307146.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 197,
"cds_start": 325,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024451378.2"
}
],
"gene_symbol": "LYPD4",
"gene_hgnc_id": 28659,
"dbsnp": "rs142442476",
"frequency_reference_population": 0.00036151137,
"hom_count_reference_population": 0,
"allele_count_reference_population": 583,
"gnomad_exomes_af": 0.000307442,
"gnomad_genomes_af": 0.000880224,
"gnomad_exomes_ac": 449,
"gnomad_genomes_ac": 134,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.008037745952606201,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.024,
"revel_prediction": "Benign",
"alphamissense_score": 0.0865,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.71,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.024,
"phylop100way_prediction": "Benign",
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_173506.7",
"gene_symbol": "LYPD4",
"hgnc_id": 28659,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.325G>A",
"hgvs_p": "p.Val109Ile"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}