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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: 3-46519033-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=46519033&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 46519033,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_024512.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC2",
"gene_hgnc_id": 14676,
"hgvs_c": "c.1097C>T",
"hgvs_p": "p.Ser366Phe",
"transcript": "NM_024512.5",
"protein_id": "NP_078788.2",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 371,
"cds_start": 1097,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000395905.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024512.5"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC2",
"gene_hgnc_id": 14676,
"hgvs_c": "c.1097C>T",
"hgvs_p": "p.Ser366Phe",
"transcript": "ENST00000395905.8",
"protein_id": "ENSP00000379241.3",
"transcript_support_level": 1,
"aa_start": 366,
"aa_end": null,
"aa_length": 371,
"cds_start": 1097,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024512.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395905.8"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC2",
"gene_hgnc_id": 14676,
"hgvs_c": "c.1097C>T",
"hgvs_p": "p.Ser366Phe",
"transcript": "ENST00000296144.3",
"protein_id": "ENSP00000296144.3",
"transcript_support_level": 1,
"aa_start": 366,
"aa_end": null,
"aa_length": 371,
"cds_start": 1097,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000296144.3"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC2",
"gene_hgnc_id": 14676,
"hgvs_c": "c.1208C>T",
"hgvs_p": "p.Ser403Phe",
"transcript": "ENST00000872818.1",
"protein_id": "ENSP00000542877.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 408,
"cds_start": 1208,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872818.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC2",
"gene_hgnc_id": 14676,
"hgvs_c": "c.1097C>T",
"hgvs_p": "p.Ser366Phe",
"transcript": "ENST00000682605.1",
"protein_id": "ENSP00000507018.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 371,
"cds_start": 1097,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682605.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC2",
"gene_hgnc_id": 14676,
"hgvs_c": "c.1097C>T",
"hgvs_p": "p.Ser366Phe",
"transcript": "ENST00000872819.1",
"protein_id": "ENSP00000542878.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 371,
"cds_start": 1097,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872819.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC2",
"gene_hgnc_id": 14676,
"hgvs_c": "c.1097C>T",
"hgvs_p": "p.Ser366Phe",
"transcript": "ENST00000872820.1",
"protein_id": "ENSP00000542879.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 371,
"cds_start": 1097,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872820.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC2",
"gene_hgnc_id": 14676,
"hgvs_c": "c.1097C>T",
"hgvs_p": "p.Ser366Phe",
"transcript": "ENST00000872821.1",
"protein_id": "ENSP00000542880.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 371,
"cds_start": 1097,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872821.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC2",
"gene_hgnc_id": 14676,
"hgvs_c": "c.1097C>T",
"hgvs_p": "p.Ser366Phe",
"transcript": "ENST00000938206.1",
"protein_id": "ENSP00000608265.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 371,
"cds_start": 1097,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938206.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC2",
"gene_hgnc_id": 14676,
"hgvs_c": "c.1097C>T",
"hgvs_p": "p.Ser366Phe",
"transcript": "ENST00000938207.1",
"protein_id": "ENSP00000608266.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 371,
"cds_start": 1097,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938207.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC2",
"gene_hgnc_id": 14676,
"hgvs_c": "c.1097C>T",
"hgvs_p": "p.Ser366Phe",
"transcript": "ENST00000951503.1",
"protein_id": "ENSP00000621562.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 371,
"cds_start": 1097,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951503.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC2",
"gene_hgnc_id": 14676,
"hgvs_c": "c.1097C>T",
"hgvs_p": "p.Ser366Phe",
"transcript": "ENST00000951504.1",
"protein_id": "ENSP00000621563.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 371,
"cds_start": 1097,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951504.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC2",
"gene_hgnc_id": 14676,
"hgvs_c": "c.1097C>T",
"hgvs_p": "p.Ser366Phe",
"transcript": "ENST00000951505.1",
"protein_id": "ENSP00000621564.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 371,
"cds_start": 1097,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951505.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC2",
"gene_hgnc_id": 14676,
"hgvs_c": "c.1097C>T",
"hgvs_p": "p.Ser366Phe",
"transcript": "ENST00000951506.1",
"protein_id": "ENSP00000621565.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 371,
"cds_start": 1097,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951506.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC2",
"gene_hgnc_id": 14676,
"hgvs_c": "c.1004C>T",
"hgvs_p": "p.Ser335Phe",
"transcript": "ENST00000951507.1",
"protein_id": "ENSP00000621566.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 340,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951507.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC2",
"gene_hgnc_id": 14676,
"hgvs_c": "c.941C>T",
"hgvs_p": "p.Ser314Phe",
"transcript": "ENST00000951508.1",
"protein_id": "ENSP00000621567.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 319,
"cds_start": 941,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951508.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRRC2",
"gene_hgnc_id": 14676,
"hgvs_c": "c.293C>T",
"hgvs_p": "p.Ser98Phe",
"transcript": "ENST00000951509.1",
"protein_id": "ENSP00000621568.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 103,
"cds_start": 293,
"cds_end": null,
"cds_length": 312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951509.1"
}
],
"gene_symbol": "LRRC2",
"gene_hgnc_id": 14676,
"dbsnp": "rs369355200",
"frequency_reference_population": 0.000032928787,
"hom_count_reference_population": 0,
"allele_count_reference_population": 53,
"gnomad_exomes_af": 0.0000322503,
"gnomad_genomes_af": 0.0000394265,
"gnomad_exomes_ac": 47,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.30782073736190796,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.26,
"revel_prediction": "Benign",
"alphamissense_score": 0.2585,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.21,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.841,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.06,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_024512.5",
"gene_symbol": "LRRC2",
"hgnc_id": 14676,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1097C>T",
"hgvs_p": "p.Ser366Phe"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}