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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: 12-132620033-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=132620033&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 132620033,
"ref": "A",
"alt": "G",
"effect": "splice_acceptor_variant,intron_variant",
"transcript": "NM_001282164.2",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX2",
"gene_hgnc_id": 15459,
"hgvs_c": "c.491A>G",
"hgvs_p": "p.Gln164Arg",
"transcript": "NM_170682.4",
"protein_id": "NP_733782.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 471,
"cds_start": 491,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000643471.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_170682.4"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX2",
"gene_hgnc_id": 15459,
"hgvs_c": "c.491A>G",
"hgvs_p": "p.Gln164Arg",
"transcript": "ENST00000643471.2",
"protein_id": "ENSP00000494644.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 471,
"cds_start": 491,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_170682.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643471.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX2",
"gene_hgnc_id": 15459,
"hgvs_c": "c.491A>G",
"hgvs_p": "p.Gln164Arg",
"transcript": "ENST00000343948.8",
"protein_id": "ENSP00000343339.4",
"transcript_support_level": 1,
"aa_start": 164,
"aa_end": null,
"aa_length": 497,
"cds_start": 491,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000343948.8"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX2",
"gene_hgnc_id": 15459,
"hgvs_c": "c.419A>G",
"hgvs_p": "p.Gln140Arg",
"transcript": "ENST00000350048.9",
"protein_id": "ENSP00000343904.5",
"transcript_support_level": 1,
"aa_start": 140,
"aa_end": null,
"aa_length": 447,
"cds_start": 419,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000350048.9"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX2",
"gene_hgnc_id": 15459,
"hgvs_c": "c.491A>G",
"hgvs_p": "p.Gln164Arg",
"transcript": "ENST00000348800.9",
"protein_id": "ENSP00000345095.5",
"transcript_support_level": 1,
"aa_start": 164,
"aa_end": null,
"aa_length": 404,
"cds_start": 491,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000348800.9"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX2",
"gene_hgnc_id": 15459,
"hgvs_c": "c.275A>G",
"hgvs_p": "p.Gln92Arg",
"transcript": "ENST00000352418.8",
"protein_id": "ENSP00000341419.4",
"transcript_support_level": 1,
"aa_start": 92,
"aa_end": null,
"aa_length": 399,
"cds_start": 275,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000352418.8"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX2",
"gene_hgnc_id": 15459,
"hgvs_c": "c.215A>G",
"hgvs_p": "p.Gln72Arg",
"transcript": "ENST00000351222.8",
"protein_id": "ENSP00000344502.4",
"transcript_support_level": 1,
"aa_start": 72,
"aa_end": null,
"aa_length": 379,
"cds_start": 215,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000351222.8"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX2",
"gene_hgnc_id": 15459,
"hgvs_c": "c.491A>G",
"hgvs_p": "p.Gln164Arg",
"transcript": "ENST00000542301.2",
"protein_id": "ENSP00000444477.2",
"transcript_support_level": 1,
"aa_start": 164,
"aa_end": null,
"aa_length": 349,
"cds_start": 491,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542301.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "P2RX2",
"gene_hgnc_id": 15459,
"hgvs_c": "c.386-2A>G",
"hgvs_p": null,
"transcript": "ENST00000449132.6",
"protein_id": "ENSP00000405531.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 370,
"cds_start": null,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000449132.6"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX2",
"gene_hgnc_id": 15459,
"hgvs_c": "c.491A>G",
"hgvs_p": "p.Gln164Arg",
"transcript": "NM_170683.4",
"protein_id": "NP_733783.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 497,
"cds_start": 491,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_170683.4"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX2",
"gene_hgnc_id": 15459,
"hgvs_c": "c.419A>G",
"hgvs_p": "p.Gln140Arg",
"transcript": "NM_016318.4",
"protein_id": "NP_057402.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 447,
"cds_start": 419,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016318.4"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX2",
"gene_hgnc_id": 15459,
"hgvs_c": "c.491A>G",
"hgvs_p": "p.Gln164Arg",
"transcript": "NM_174873.3",
"protein_id": "NP_777362.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 404,
"cds_start": 491,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_174873.3"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX2",
"gene_hgnc_id": 15459,
"hgvs_c": "c.275A>G",
"hgvs_p": "p.Gln92Arg",
"transcript": "NM_012226.5",
"protein_id": "NP_036358.2",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 399,
"cds_start": 275,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012226.5"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX2",
"gene_hgnc_id": 15459,
"hgvs_c": "c.215A>G",
"hgvs_p": "p.Gln72Arg",
"transcript": "NM_174872.3",
"protein_id": "NP_777361.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 379,
"cds_start": 215,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_174872.3"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX2",
"gene_hgnc_id": 15459,
"hgvs_c": "c.491A>G",
"hgvs_p": "p.Gln164Arg",
"transcript": "NM_001282165.2",
"protein_id": "NP_001269094.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 349,
"cds_start": 491,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282165.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX2",
"gene_hgnc_id": 15459,
"hgvs_c": "c.491A>G",
"hgvs_p": "p.Gln164Arg",
"transcript": "XM_005266154.5",
"protein_id": "XP_005266211.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 512,
"cds_start": 491,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005266154.5"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX2",
"gene_hgnc_id": 15459,
"hgvs_c": "c.491A>G",
"hgvs_p": "p.Gln164Arg",
"transcript": "XM_005266155.6",
"protein_id": "XP_005266212.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 488,
"cds_start": 491,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005266155.6"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX2",
"gene_hgnc_id": 15459,
"hgvs_c": "c.419A>G",
"hgvs_p": "p.Gln140Arg",
"transcript": "XM_011534786.4",
"protein_id": "XP_011533088.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 473,
"cds_start": 419,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534786.4"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX2",
"gene_hgnc_id": 15459,
"hgvs_c": "c.491A>G",
"hgvs_p": "p.Gln164Arg",
"transcript": "XM_017019035.3",
"protein_id": "XP_016874524.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 462,
"cds_start": 491,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019035.3"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RX2",
"gene_hgnc_id": 15459,
"hgvs_c": "c.491A>G",
"hgvs_p": "p.Gln164Arg",
"transcript": "XM_005266156.6",
"protein_id": "XP_005266213.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 430,
"cds_start": 491,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005266156.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "P2RX2",
"gene_hgnc_id": 15459,
"hgvs_c": "c.386-2A>G",
"hgvs_p": null,
"transcript": "NM_001282164.2",
"protein_id": "NP_001269093.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 370,
"cds_start": null,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282164.2"
}
],
"gene_symbol": "P2RX2",
"gene_hgnc_id": 15459,
"dbsnp": "rs142844880",
"frequency_reference_population": 0.0010448874,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1662,
"gnomad_exomes_af": 0.00105813,
"gnomad_genomes_af": 0.000919782,
"gnomad_exomes_ac": 1522,
"gnomad_genomes_ac": 140,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09600000083446503,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.096,
"revel_prediction": "Benign",
"alphamissense_score": 0.0599,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.58,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.275,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001282164.2",
"gene_symbol": "P2RX2",
"hgnc_id": 15459,
"effects": [
"splice_acceptor_variant",
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.386-2A>G",
"hgvs_p": null
}
],
"clinvar_disease": "P2RX2-related disorder,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|P2RX2-related disorder",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}