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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: 17-3688083-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=3688083&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "P2RX5",
"hgnc_id": 8536,
"hgvs_c": "c.910G>C",
"hgvs_p": "p.Ala304Pro",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_002561.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "P2RX5-TAX1BP3",
"hgnc_id": 49191,
"hgvs_c": "n.910G>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000550383.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.1107,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.65,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.08621308207511902,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 422,
"aa_ref": "A",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2060,
"cdna_start": 1060,
"cds_end": null,
"cds_length": 1269,
"cds_start": 910,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_002561.4",
"gene_hgnc_id": 8536,
"gene_symbol": "P2RX5",
"hgvs_c": "c.910G>C",
"hgvs_p": "p.Ala304Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000225328.10",
"protein_coding": true,
"protein_id": "NP_002552.2",
"strand": false,
"transcript": "NM_002561.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 422,
"aa_ref": "A",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2060,
"cdna_start": 1060,
"cds_end": null,
"cds_length": 1269,
"cds_start": 910,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000225328.10",
"gene_hgnc_id": 8536,
"gene_symbol": "P2RX5",
"hgvs_c": "c.910G>C",
"hgvs_p": "p.Ala304Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002561.4",
"protein_coding": true,
"protein_id": "ENSP00000225328.5",
"strand": false,
"transcript": "ENST00000225328.10",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 444,
"aa_ref": "A",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2126,
"cdna_start": 1060,
"cds_end": null,
"cds_length": 1335,
"cds_start": 910,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000697413.1",
"gene_hgnc_id": 8536,
"gene_symbol": "P2RX5",
"hgvs_c": "c.910G>C",
"hgvs_p": "p.Ala304Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513301.1",
"strand": false,
"transcript": "ENST00000697413.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 421,
"aa_ref": "A",
"aa_start": 303,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1998,
"cdna_start": 998,
"cds_end": null,
"cds_length": 1266,
"cds_start": 907,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000547178.5",
"gene_hgnc_id": 8536,
"gene_symbol": "P2RX5",
"hgvs_c": "c.907G>C",
"hgvs_p": "p.Ala303Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000448355.1",
"strand": false,
"transcript": "ENST00000547178.5",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 397,
"aa_ref": "A",
"aa_start": 279,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1863,
"cdna_start": 863,
"cds_end": null,
"cds_length": 1194,
"cds_start": 835,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000551178.5",
"gene_hgnc_id": 8536,
"gene_symbol": "P2RX5",
"hgvs_c": "c.835G>C",
"hgvs_p": "p.Ala279Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000447545.1",
"strand": false,
"transcript": "ENST00000551178.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 5905,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000550383.1",
"gene_hgnc_id": 49191,
"gene_symbol": "P2RX5-TAX1BP3",
"hgvs_c": "n.910G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000455681.1",
"strand": false,
"transcript": "ENST00000550383.1",
"transcript_support_level": 2
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 431,
"aa_ref": "A",
"aa_start": 303,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1642,
"cdna_start": 998,
"cds_end": null,
"cds_length": 1296,
"cds_start": 907,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000552276.5",
"gene_hgnc_id": 8536,
"gene_symbol": "P2RX5",
"hgvs_c": "c.907G>C",
"hgvs_p": "p.Ala303Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000467707.1",
"strand": false,
"transcript": "ENST00000552276.5",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 421,
"aa_ref": "A",
"aa_start": 303,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2057,
"cdna_start": 1057,
"cds_end": null,
"cds_length": 1266,
"cds_start": 907,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001204519.2",
"gene_hgnc_id": 8536,
"gene_symbol": "P2RX5",
"hgvs_c": "c.907G>C",
"hgvs_p": "p.Ala303Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001191448.1",
"strand": false,
"transcript": "NM_001204519.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 420,
"aa_ref": "A",
"aa_start": 303,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2292,
"cdna_start": 1300,
"cds_end": null,
"cds_length": 1263,
"cds_start": 907,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000971449.1",
"gene_hgnc_id": 8536,
"gene_symbol": "P2RX5",
"hgvs_c": "c.907G>C",
"hgvs_p": "p.Ala303Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641508.1",
"strand": false,
"transcript": "ENST00000971449.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 405,
"aa_ref": "A",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2093,
"cdna_start": 1093,
"cds_end": null,
"cds_length": 1218,
"cds_start": 859,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000971450.1",
"gene_hgnc_id": 8536,
"gene_symbol": "P2RX5",
"hgvs_c": "c.859G>C",
"hgvs_p": "p.Ala287Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641509.1",
"strand": false,
"transcript": "ENST00000971450.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 398,
"aa_ref": "A",
"aa_start": 280,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1988,
"cdna_start": 988,
"cds_end": null,
"cds_length": 1197,
"cds_start": 838,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001204520.2",
"gene_hgnc_id": 8536,
"gene_symbol": "P2RX5",
"hgvs_c": "c.838G>C",
"hgvs_p": "p.Ala280Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001191449.1",
"strand": false,
"transcript": "NM_001204520.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 398,
"aa_ref": "A",
"aa_start": 280,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2031,
"cdna_start": 1049,
"cds_end": null,
"cds_length": 1197,
"cds_start": 838,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000345901.7",
"gene_hgnc_id": 8536,
"gene_symbol": "P2RX5",
"hgvs_c": "c.838G>C",
"hgvs_p": "p.Ala280Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000342161.3",
"strand": false,
"transcript": "ENST00000345901.7",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 397,
"aa_ref": "A",
"aa_start": 279,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1985,
"cdna_start": 985,
"cds_end": null,
"cds_length": 1194,
"cds_start": 835,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_175080.3",
"gene_hgnc_id": 8536,
"gene_symbol": "P2RX5",
"hgvs_c": "c.835G>C",
"hgvs_p": "p.Ala279Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_778255.1",
"strand": false,
"transcript": "NM_175080.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 362,
"aa_ref": "A",
"aa_start": 244,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1536,
"cdna_start": 909,
"cds_end": null,
"cds_length": 1089,
"cds_start": 730,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000552050.5",
"gene_hgnc_id": 8536,
"gene_symbol": "P2RX5",
"hgvs_c": "c.730G>C",
"hgvs_p": "p.Ala244Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000450006.1",
"strand": false,
"transcript": "ENST00000552050.5",
"transcript_support_level": 2
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 324,
"aa_ref": "A",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1726,
"cdna_start": 726,
"cds_end": null,
"cds_length": 975,
"cds_start": 616,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000853234.1",
"gene_hgnc_id": 8536,
"gene_symbol": "P2RX5",
"hgvs_c": "c.616G>C",
"hgvs_p": "p.Ala206Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523293.1",
"strand": false,
"transcript": "ENST00000853234.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 307,
"aa_ref": "A",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1797,
"cdna_start": 800,
"cds_end": null,
"cds_length": 924,
"cds_start": 565,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000971451.1",
"gene_hgnc_id": 8536,
"gene_symbol": "P2RX5",
"hgvs_c": "c.565G>C",
"hgvs_p": "p.Ala189Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641510.1",
"strand": false,
"transcript": "ENST00000971451.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 284,
"aa_ref": "A",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 858,
"cdna_start": 530,
"cds_end": null,
"cds_length": 857,
"cds_start": 529,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000552723.1",
"gene_hgnc_id": 8536,
"gene_symbol": "P2RX5",
"hgvs_c": "c.529G>C",
"hgvs_p": "p.Ala177Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000449495.1",
"strand": false,
"transcript": "ENST00000552723.1",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 214,
"aa_ref": "A",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2458,
"cdna_start": 1458,
"cds_end": null,
"cds_length": 645,
"cds_start": 286,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001425082.1",
"gene_hgnc_id": 8536,
"gene_symbol": "P2RX5",
"hgvs_c": "c.286G>C",
"hgvs_p": "p.Ala96Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001412011.1",
"strand": false,
"transcript": "NM_001425082.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 214,
"aa_ref": "A",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2554,
"cdna_start": 1554,
"cds_end": null,
"cds_length": 645,
"cds_start": 286,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001425083.1",
"gene_hgnc_id": 8536,
"gene_symbol": "P2RX5",
"hgvs_c": "c.286G>C",
"hgvs_p": "p.Ala96Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001412012.1",
"strand": false,
"transcript": "NM_001425083.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 214,
"aa_ref": "A",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2617,
"cdna_start": 1617,
"cds_end": null,
"cds_length": 645,
"cds_start": 286,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001425084.1",
"gene_hgnc_id": 8536,
"gene_symbol": "P2RX5",
"hgvs_c": "c.286G>C",
"hgvs_p": "p.Ala96Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001412013.1",
"strand": false,
"transcript": "NM_001425084.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 214,
"aa_ref": "A",
"aa_start": 96,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2384,
"cdna_start": 1384,
"cds_end": null,
"cds_length": 645,
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}