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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: 12-132619476-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=132619476&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 132619476,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000643471.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX2",
"gene_hgnc_id": 15459,
"hgvs_c": "c.211G>A",
"hgvs_p": "p.Glu71Lys",
"transcript": "NM_170682.4",
"protein_id": "NP_733782.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 471,
"cds_start": 211,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 252,
"cdna_end": null,
"cdna_length": 1873,
"mane_select": "ENST00000643471.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX2",
"gene_hgnc_id": 15459,
"hgvs_c": "c.211G>A",
"hgvs_p": "p.Glu71Lys",
"transcript": "ENST00000643471.2",
"protein_id": "ENSP00000494644.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 471,
"cds_start": 211,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 252,
"cdna_end": null,
"cdna_length": 1873,
"mane_select": "NM_170682.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX2",
"gene_hgnc_id": 15459,
"hgvs_c": "c.211G>A",
"hgvs_p": "p.Glu71Lys",
"transcript": "ENST00000343948.8",
"protein_id": "ENSP00000343339.4",
"transcript_support_level": 1,
"aa_start": 71,
"aa_end": null,
"aa_length": 497,
"cds_start": 211,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 211,
"cdna_end": null,
"cdna_length": 1494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX2",
"gene_hgnc_id": 15459,
"hgvs_c": "c.211G>A",
"hgvs_p": "p.Glu71Lys",
"transcript": "ENST00000350048.9",
"protein_id": "ENSP00000343904.5",
"transcript_support_level": 1,
"aa_start": 71,
"aa_end": null,
"aa_length": 447,
"cds_start": 211,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 211,
"cdna_end": null,
"cdna_length": 1344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX2",
"gene_hgnc_id": 15459,
"hgvs_c": "c.211G>A",
"hgvs_p": "p.Glu71Lys",
"transcript": "ENST00000348800.9",
"protein_id": "ENSP00000345095.5",
"transcript_support_level": 1,
"aa_start": 71,
"aa_end": null,
"aa_length": 404,
"cds_start": 211,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 211,
"cdna_end": null,
"cdna_length": 1222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX2",
"gene_hgnc_id": 15459,
"hgvs_c": "c.143G>A",
"hgvs_p": "p.Arg48Gln",
"transcript": "ENST00000352418.8",
"protein_id": "ENSP00000341419.4",
"transcript_support_level": 1,
"aa_start": 48,
"aa_end": null,
"aa_length": 399,
"cds_start": 143,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 143,
"cdna_end": null,
"cdna_length": 1200,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX2",
"gene_hgnc_id": 15459,
"hgvs_c": "c.211G>A",
"hgvs_p": "p.Glu71Lys",
"transcript": "ENST00000449132.6",
"protein_id": "ENSP00000405531.2",
"transcript_support_level": 1,
"aa_start": 71,
"aa_end": null,
"aa_length": 370,
"cds_start": 211,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 211,
"cdna_end": null,
"cdna_length": 1113,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX2",
"gene_hgnc_id": 15459,
"hgvs_c": "c.211G>A",
"hgvs_p": "p.Glu71Lys",
"transcript": "ENST00000542301.2",
"protein_id": "ENSP00000444477.2",
"transcript_support_level": 1,
"aa_start": 71,
"aa_end": null,
"aa_length": 349,
"cds_start": 211,
"cds_end": null,
"cds_length": 1050,
"cdna_start": 211,
"cdna_end": null,
"cdna_length": 1881,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "P2RX2",
"gene_hgnc_id": 15459,
"hgvs_c": "c.106-368G>A",
"hgvs_p": null,
"transcript": "ENST00000351222.8",
"protein_id": "ENSP00000344502.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 379,
"cds_start": -4,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX2",
"gene_hgnc_id": 15459,
"hgvs_c": "c.211G>A",
"hgvs_p": "p.Glu71Lys",
"transcript": "NM_170683.4",
"protein_id": "NP_733783.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 497,
"cds_start": 211,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 252,
"cdna_end": null,
"cdna_length": 1951,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX2",
"gene_hgnc_id": 15459,
"hgvs_c": "c.211G>A",
"hgvs_p": "p.Glu71Lys",
"transcript": "NM_016318.4",
"protein_id": "NP_057402.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 447,
"cds_start": 211,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 252,
"cdna_end": null,
"cdna_length": 1801,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX2",
"gene_hgnc_id": 15459,
"hgvs_c": "c.211G>A",
"hgvs_p": "p.Glu71Lys",
"transcript": "NM_174873.3",
"protein_id": "NP_777362.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 404,
"cds_start": 211,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 252,
"cdna_end": null,
"cdna_length": 1672,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX2",
"gene_hgnc_id": 15459,
"hgvs_c": "c.143G>A",
"hgvs_p": "p.Arg48Gln",
"transcript": "NM_012226.5",
"protein_id": "NP_036358.2",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 399,
"cds_start": 143,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 184,
"cdna_end": null,
"cdna_length": 1657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX2",
"gene_hgnc_id": 15459,
"hgvs_c": "c.211G>A",
"hgvs_p": "p.Glu71Lys",
"transcript": "NM_001282164.2",
"protein_id": "NP_001269093.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 370,
"cds_start": 211,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 252,
"cdna_end": null,
"cdna_length": 1570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX2",
"gene_hgnc_id": 15459,
"hgvs_c": "c.211G>A",
"hgvs_p": "p.Glu71Lys",
"transcript": "NM_001282165.2",
"protein_id": "NP_001269094.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 349,
"cds_start": 211,
"cds_end": null,
"cds_length": 1050,
"cdna_start": 252,
"cdna_end": null,
"cdna_length": 1970,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX2",
"gene_hgnc_id": 15459,
"hgvs_c": "c.211G>A",
"hgvs_p": "p.Glu71Lys",
"transcript": "XM_005266154.5",
"protein_id": "XP_005266211.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 512,
"cds_start": 211,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 252,
"cdna_end": null,
"cdna_length": 1996,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX2",
"gene_hgnc_id": 15459,
"hgvs_c": "c.211G>A",
"hgvs_p": "p.Glu71Lys",
"transcript": "XM_005266155.6",
"protein_id": "XP_005266212.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 488,
"cds_start": 211,
"cds_end": null,
"cds_length": 1467,
"cdna_start": 252,
"cdna_end": null,
"cdna_length": 1648,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX2",
"gene_hgnc_id": 15459,
"hgvs_c": "c.211G>A",
"hgvs_p": "p.Glu71Lys",
"transcript": "XM_011534786.4",
"protein_id": "XP_011533088.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 473,
"cds_start": 211,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 252,
"cdna_end": null,
"cdna_length": 1879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX2",
"gene_hgnc_id": 15459,
"hgvs_c": "c.211G>A",
"hgvs_p": "p.Glu71Lys",
"transcript": "XM_017019035.3",
"protein_id": "XP_016874524.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 462,
"cds_start": 211,
"cds_end": null,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX2",
"gene_hgnc_id": 15459,
"hgvs_c": "c.211G>A",
"hgvs_p": "p.Glu71Lys",
"transcript": "XM_005266156.6",
"protein_id": "XP_005266213.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 430,
"cds_start": 211,
"cds_end": null,
"cds_length": 1293,
"cdna_start": 252,
"cdna_end": null,
"cdna_length": 1750,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "P2RX2",
"gene_hgnc_id": 15459,
"hgvs_c": "c.106-368G>A",
"hgvs_p": null,
"transcript": "NM_174872.3",
"protein_id": "NP_777361.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 379,
"cds_start": -4,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "P2RX2",
"gene_hgnc_id": 15459,
"dbsnp": "rs143664462",
"frequency_reference_population": 0.002658387,
"hom_count_reference_population": 12,
"allele_count_reference_population": 4287,
"gnomad_exomes_af": 0.00277782,
"gnomad_genomes_af": 0.00151183,
"gnomad_exomes_ac": 4057,
"gnomad_genomes_ac": 230,
"gnomad_exomes_homalt": 12,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.028756558895111084,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.41,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9222,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.176,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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": -15,
"acmg_classification": "Benign",
"acmg_criteria": "PP3,BP4_Strong,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -15,
"benign_score": 16,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000643471.2",
"gene_symbol": "P2RX2",
"hgnc_id": 15459,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.211G>A",
"hgvs_p": "p.Glu71Lys"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:2",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}