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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: 12-121160849-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=121160849&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "P2RX7",
"hgnc_id": 8537,
"hgvs_c": "c.364-53G>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_002562.6",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "LOC105370032",
"hgnc_id": null,
"hgvs_c": "n.328-34008C>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "XR_001749352.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.9,
"chr": "12",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8999999761581421,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 595,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5113,
"cdna_start": null,
"cds_end": null,
"cds_length": 1788,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_002562.6",
"gene_hgnc_id": 8537,
"gene_symbol": "P2RX7",
"hgvs_c": "c.364-53G>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000328963.10",
"protein_coding": true,
"protein_id": "NP_002553.3",
"strand": true,
"transcript": "NM_002562.6",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 595,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5113,
"cdna_start": null,
"cds_end": null,
"cds_length": 1788,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000328963.10",
"gene_hgnc_id": 8537,
"gene_symbol": "P2RX7",
"hgvs_c": "c.364-53G>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002562.6",
"protein_coding": true,
"protein_id": "ENSP00000330696.6",
"strand": true,
"transcript": "ENST00000328963.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3003,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000261826.10",
"gene_hgnc_id": 8537,
"gene_symbol": "P2RX7",
"hgvs_c": "n.364-53G>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000261826.6",
"strand": true,
"transcript": "ENST00000261826.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1927,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000538011.5",
"gene_hgnc_id": 8537,
"gene_symbol": "P2RX7",
"hgvs_c": "n.*119-53G>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000439247.1",
"strand": true,
"transcript": "ENST00000538011.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1578,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000541022.5",
"gene_hgnc_id": 8537,
"gene_symbol": "P2RX7",
"hgvs_c": "n.364-1575G>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000441230.1",
"strand": true,
"transcript": "ENST00000541022.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1651,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000541564.5",
"gene_hgnc_id": 8537,
"gene_symbol": "P2RX7",
"hgvs_c": "n.364-53G>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000443640.1",
"strand": true,
"transcript": "ENST00000541564.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 620,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2190,
"cdna_start": null,
"cds_end": null,
"cds_length": 1863,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000903312.1",
"gene_hgnc_id": 8537,
"gene_symbol": "P2RX7",
"hgvs_c": "c.439-53G>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573371.1",
"strand": true,
"transcript": "ENST00000903312.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 506,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2918,
"cdna_start": null,
"cds_end": null,
"cds_length": 1521,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000903311.1",
"gene_hgnc_id": 8537,
"gene_symbol": "P2RX7",
"hgvs_c": "c.364-53G>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573370.1",
"strand": true,
"transcript": "ENST00000903311.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 506,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4846,
"cdna_start": null,
"cds_end": null,
"cds_length": 1521,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047428912.1",
"gene_hgnc_id": 8537,
"gene_symbol": "P2RX7",
"hgvs_c": "c.364-53G>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284868.1",
"strand": true,
"transcript": "XM_047428912.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 491,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4944,
"cdna_start": null,
"cds_end": null,
"cds_length": 1476,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011538419.4",
"gene_hgnc_id": 8537,
"gene_symbol": "P2RX7",
"hgvs_c": "c.52-53G>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011536721.1",
"strand": true,
"transcript": "XM_011538419.4",
"transcript_support_level": null
},
{
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"aa_length": 344,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4871,
"cdna_start": null,
"cds_end": null,
"cds_length": 1035,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
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"feature": "XM_017019367.3",
"gene_hgnc_id": 8537,
"gene_symbol": "P2RX7",
"hgvs_c": "c.-317-1575G>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016874856.1",
"strand": true,
"transcript": "XM_017019367.3",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
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],
"exon_count": 12,
"exon_rank": null,
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"feature": "ENST00000535250.5",
"gene_hgnc_id": 8537,
"gene_symbol": "P2RX7",
"hgvs_c": "n.364-53G>T",
"hgvs_p": null,
"intron_rank": 3,
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"mane_plus": null,
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"protein_coding": false,
"protein_id": "ENSP00000442572.2",
"strand": true,
"transcript": "ENST00000535250.5",
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},
{
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"biotype": "nonsense_mediated_decay",
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"consequences": [
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],
"exon_count": 10,
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"feature": "ENST00000535600.2",
"gene_hgnc_id": 8537,
"gene_symbol": "P2RX7",
"hgvs_c": "n.364-53G>T",
"hgvs_p": null,
"intron_rank": 3,
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"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000442470.1",
"strand": true,
"transcript": "ENST00000535600.2",
"transcript_support_level": 2
},
{
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"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 546,
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"cds_end": null,
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"consequences": [
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],
"exon_count": 4,
"exon_rank": null,
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"feature": "ENST00000535928.5",
"gene_hgnc_id": 8537,
"gene_symbol": "P2RX7",
"hgvs_c": "n.*51-53G>T",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
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"protein_coding": false,
"protein_id": "ENSP00000439961.1",
"strand": true,
"transcript": "ENST00000535928.5",
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},
{
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"biotype": "nonsense_mediated_decay",
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"cdna_start": null,
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"consequences": [
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],
"exon_count": 11,
"exon_rank": null,
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"feature": "ENST00000537312.5",
"gene_hgnc_id": 8537,
"gene_symbol": "P2RX7",
"hgvs_c": "n.*51-53G>T",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000438586.1",
"strand": true,
"transcript": "ENST00000537312.5",
"transcript_support_level": 2
},
{
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"biotype": "nonsense_mediated_decay",
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"cdna_end": null,
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"cds_end": null,
"cds_length": null,
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"consequences": [
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],
"exon_count": 13,
"exon_rank": null,
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"feature": "ENST00000539606.5",
"gene_hgnc_id": 8537,
"gene_symbol": "P2RX7",
"hgvs_c": "n.*119-53G>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000445325.1",
"strand": true,
"transcript": "ENST00000539606.5",
"transcript_support_level": 2
},
{
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"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
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"consequences": [
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],
"exon_count": 11,
"exon_rank": null,
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"feature": "ENST00000539695.5",
"gene_hgnc_id": 8537,
"gene_symbol": "P2RX7",
"hgvs_c": "n.433-53G>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": false,
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"strand": true,
"transcript": "ENST00000539695.5",
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},
{
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"consequences": [
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],
"exon_count": 11,
"exon_rank": null,
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"feature": "ENST00000541716.5",
"gene_hgnc_id": 8537,
"gene_symbol": "P2RX7",
"hgvs_c": "n.364-1575G>T",
"hgvs_p": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000437729.1",
"strand": true,
"transcript": "ENST00000541716.5",
"transcript_support_level": 2
},
{
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"cdna_end": null,
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"consequences": [
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],
"exon_count": 5,
"exon_rank": null,
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"feature": "ENST00000545434.5",
"gene_hgnc_id": 8537,
"gene_symbol": "P2RX7",
"hgvs_c": "n.*51-1575G>T",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000445564.1",
"strand": true,
"transcript": "ENST00000545434.5",
"transcript_support_level": 4
},
{
"aa_alt": null,
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"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 5336,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NR_033948.2",
"gene_hgnc_id": 8537,
"gene_symbol": "P2RX7",
"hgvs_c": "n.598-53G>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_033948.2",
"transcript_support_level": null
},
{
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"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 5252,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NR_033949.2",
"gene_hgnc_id": 8537,
"gene_symbol": "P2RX7",
"hgvs_c": "n.598-53G>T",
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