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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: 3-121929321-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=121929321&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 121929321,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_021082.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC15A2",
"gene_hgnc_id": 10921,
"hgvs_c": "c.1526G>A",
"hgvs_p": "p.Arg509Lys",
"transcript": "NM_021082.4",
"protein_id": "NP_066568.3",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 729,
"cds_start": 1526,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000489711.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021082.4"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC15A2",
"gene_hgnc_id": 10921,
"hgvs_c": "c.1526G>A",
"hgvs_p": "p.Arg509Lys",
"transcript": "ENST00000489711.6",
"protein_id": "ENSP00000417085.1",
"transcript_support_level": 1,
"aa_start": 509,
"aa_end": null,
"aa_length": 729,
"cds_start": 1526,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_021082.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000489711.6"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC15A2",
"gene_hgnc_id": 10921,
"hgvs_c": "c.1538G>A",
"hgvs_p": "p.Arg513Lys",
"transcript": "ENST00000966832.1",
"protein_id": "ENSP00000636891.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 733,
"cds_start": 1538,
"cds_end": null,
"cds_length": 2202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966832.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC15A2",
"gene_hgnc_id": 10921,
"hgvs_c": "c.1523G>A",
"hgvs_p": "p.Arg508Lys",
"transcript": "ENST00000886960.1",
"protein_id": "ENSP00000557019.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 728,
"cds_start": 1523,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886960.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC15A2",
"gene_hgnc_id": 10921,
"hgvs_c": "c.1523G>A",
"hgvs_p": "p.Arg508Lys",
"transcript": "ENST00000966831.1",
"protein_id": "ENSP00000636890.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 728,
"cds_start": 1523,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966831.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC15A2",
"gene_hgnc_id": 10921,
"hgvs_c": "c.1526G>A",
"hgvs_p": "p.Arg509Lys",
"transcript": "ENST00000886964.1",
"protein_id": "ENSP00000557023.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 725,
"cds_start": 1526,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886964.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC15A2",
"gene_hgnc_id": 10921,
"hgvs_c": "c.1433G>A",
"hgvs_p": "p.Arg478Lys",
"transcript": "NM_001145998.2",
"protein_id": "NP_001139470.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 698,
"cds_start": 1433,
"cds_end": null,
"cds_length": 2097,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145998.2"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC15A2",
"gene_hgnc_id": 10921,
"hgvs_c": "c.1433G>A",
"hgvs_p": "p.Arg478Lys",
"transcript": "ENST00000295605.6",
"protein_id": "ENSP00000295605.2",
"transcript_support_level": 2,
"aa_start": 478,
"aa_end": null,
"aa_length": 698,
"cds_start": 1433,
"cds_end": null,
"cds_length": 2097,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000295605.6"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC15A2",
"gene_hgnc_id": 10921,
"hgvs_c": "c.1526G>A",
"hgvs_p": "p.Arg509Lys",
"transcript": "ENST00000886962.1",
"protein_id": "ENSP00000557021.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 694,
"cds_start": 1526,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886962.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC15A2",
"gene_hgnc_id": 10921,
"hgvs_c": "c.1493G>A",
"hgvs_p": "p.Arg498Lys",
"transcript": "ENST00000886963.1",
"protein_id": "ENSP00000557022.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 683,
"cds_start": 1493,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886963.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC15A2",
"gene_hgnc_id": 10921,
"hgvs_c": "c.1433G>A",
"hgvs_p": "p.Arg478Lys",
"transcript": "ENST00000886961.1",
"protein_id": "ENSP00000557020.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 663,
"cds_start": 1433,
"cds_end": null,
"cds_length": 1992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886961.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC15A2",
"gene_hgnc_id": 10921,
"hgvs_c": "c.1526G>A",
"hgvs_p": "p.Arg509Lys",
"transcript": "XM_005247722.4",
"protein_id": "XP_005247779.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 694,
"cds_start": 1526,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005247722.4"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC15A2",
"gene_hgnc_id": 10921,
"hgvs_c": "c.1526G>A",
"hgvs_p": "p.Arg509Lys",
"transcript": "XM_006713736.4",
"protein_id": "XP_006713799.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 569,
"cds_start": 1526,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006713736.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC15A2",
"gene_hgnc_id": 10921,
"hgvs_c": "n.449G>A",
"hgvs_p": null,
"transcript": "ENST00000465060.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000465060.1"
}
],
"gene_symbol": "SLC15A2",
"gene_hgnc_id": 10921,
"dbsnp": "rs1143672",
"frequency_reference_population": 0.4542438,
"hom_count_reference_population": 171172,
"allele_count_reference_population": 732271,
"gnomad_exomes_af": 0.455074,
"gnomad_genomes_af": 0.446276,
"gnomad_exomes_ac": 664413,
"gnomad_genomes_ac": 67858,
"gnomad_exomes_homalt": 155488,
"gnomad_genomes_homalt": 15684,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.000003331076413815026,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.15000000596046448,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.053,
"revel_prediction": "Benign",
"alphamissense_score": 0.0641,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.79,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.117,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.15,
"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": -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": "NM_021082.4",
"gene_symbol": "SLC15A2",
"hgnc_id": 10921,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1526G>A",
"hgvs_p": "p.Arg509Lys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}