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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: 3-169851754-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=169851754&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 169851754,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_024727.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC31",
"gene_hgnc_id": 26261,
"hgvs_c": "c.1024G>A",
"hgvs_p": "p.Glu342Lys",
"transcript": "NM_024727.4",
"protein_id": "NP_079003.2",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 552,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000316428.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024727.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC31",
"gene_hgnc_id": 26261,
"hgvs_c": "c.1024G>A",
"hgvs_p": "p.Glu342Lys",
"transcript": "ENST00000316428.10",
"protein_id": "ENSP00000325978.5",
"transcript_support_level": 1,
"aa_start": 342,
"aa_end": null,
"aa_length": 552,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024727.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000316428.10"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC31",
"gene_hgnc_id": 26261,
"hgvs_c": "c.1024G>A",
"hgvs_p": "p.Glu342Lys",
"transcript": "ENST00000523069.1",
"protein_id": "ENSP00000429145.1",
"transcript_support_level": 1,
"aa_start": 342,
"aa_end": null,
"aa_length": 443,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000523069.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC31",
"gene_hgnc_id": 26261,
"hgvs_c": "c.1000G>A",
"hgvs_p": "p.Glu334Lys",
"transcript": "ENST00000945890.1",
"protein_id": "ENSP00000615949.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 544,
"cds_start": 1000,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945890.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC31",
"gene_hgnc_id": 26261,
"hgvs_c": "c.856G>A",
"hgvs_p": "p.Glu286Lys",
"transcript": "NM_001277128.2",
"protein_id": "NP_001264057.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 496,
"cds_start": 856,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001277128.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC31",
"gene_hgnc_id": 26261,
"hgvs_c": "c.856G>A",
"hgvs_p": "p.Glu286Lys",
"transcript": "ENST00000264676.9",
"protein_id": "ENSP00000264676.5",
"transcript_support_level": 2,
"aa_start": 286,
"aa_end": null,
"aa_length": 496,
"cds_start": 856,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264676.9"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC31",
"gene_hgnc_id": 26261,
"hgvs_c": "c.1024G>A",
"hgvs_p": "p.Glu342Lys",
"transcript": "ENST00000945887.1",
"protein_id": "ENSP00000615946.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 496,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945887.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC31",
"gene_hgnc_id": 26261,
"hgvs_c": "c.856G>A",
"hgvs_p": "p.Glu286Lys",
"transcript": "ENST00000945889.1",
"protein_id": "ENSP00000615948.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 496,
"cds_start": 856,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945889.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC31",
"gene_hgnc_id": 26261,
"hgvs_c": "c.1024G>A",
"hgvs_p": "p.Glu342Lys",
"transcript": "ENST00000945891.1",
"protein_id": "ENSP00000615950.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 496,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945891.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC31",
"gene_hgnc_id": 26261,
"hgvs_c": "c.1024G>A",
"hgvs_p": "p.Glu342Lys",
"transcript": "NM_001277127.2",
"protein_id": "NP_001264056.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 443,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001277127.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC31",
"gene_hgnc_id": 26261,
"hgvs_c": "c.1024G>A",
"hgvs_p": "p.Glu342Lys",
"transcript": "XM_011513158.3",
"protein_id": "XP_011511460.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 496,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513158.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC31",
"gene_hgnc_id": 26261,
"hgvs_c": "c.856G>A",
"hgvs_p": "p.Glu286Lys",
"transcript": "XM_011513159.3",
"protein_id": "XP_011511461.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 496,
"cds_start": 856,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513159.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC31",
"gene_hgnc_id": 26261,
"hgvs_c": "c.829G>A",
"hgvs_p": "p.Glu277Lys",
"transcript": "XM_017007204.2",
"protein_id": "XP_016862693.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 487,
"cds_start": 829,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007204.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "LRRC31",
"gene_hgnc_id": 26261,
"hgvs_c": "c.991+3059G>A",
"hgvs_p": null,
"transcript": "ENST00000945888.1",
"protein_id": "ENSP00000615947.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 440,
"cds_start": null,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945888.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "LRRC31",
"gene_hgnc_id": 26261,
"hgvs_c": "c.823+4582G>A",
"hgvs_p": null,
"transcript": "ENST00000945886.1",
"protein_id": "ENSP00000615945.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 384,
"cds_start": null,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945886.1"
}
],
"gene_symbol": "LRRC31",
"gene_hgnc_id": 26261,
"dbsnp": "rs746067420",
"frequency_reference_population": 0.0000631953,
"hom_count_reference_population": 0,
"allele_count_reference_population": 102,
"gnomad_exomes_af": 0.000062249,
"gnomad_genomes_af": 0.0000722866,
"gnomad_exomes_ac": 91,
"gnomad_genomes_ac": 11,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07403174042701721,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.28999999165534973,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.326,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1443,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.852,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.29,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_024727.4",
"gene_symbol": "LRRC31",
"hgnc_id": 26261,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1024G>A",
"hgvs_p": "p.Glu342Lys"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}