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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: 11-82825055-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=82825055&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 82825055,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_199418.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRCP",
"gene_hgnc_id": 9344,
"hgvs_c": "c.1342G>T",
"hgvs_p": "p.Val448Phe",
"transcript": "NM_005040.4",
"protein_id": "NP_005031.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 496,
"cds_start": 1342,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000313010.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005040.4"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRCP",
"gene_hgnc_id": 9344,
"hgvs_c": "c.1342G>T",
"hgvs_p": "p.Val448Phe",
"transcript": "ENST00000313010.8",
"protein_id": "ENSP00000317362.3",
"transcript_support_level": 1,
"aa_start": 448,
"aa_end": null,
"aa_length": 496,
"cds_start": 1342,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005040.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000313010.8"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRCP",
"gene_hgnc_id": 9344,
"hgvs_c": "c.1405G>T",
"hgvs_p": "p.Val469Phe",
"transcript": "NM_199418.4",
"protein_id": "NP_955450.2",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 517,
"cds_start": 1405,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_199418.4"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRCP",
"gene_hgnc_id": 9344,
"hgvs_c": "c.1405G>T",
"hgvs_p": "p.Val469Phe",
"transcript": "ENST00000393399.6",
"protein_id": "ENSP00000377055.2",
"transcript_support_level": 2,
"aa_start": 469,
"aa_end": null,
"aa_length": 517,
"cds_start": 1405,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393399.6"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRCP",
"gene_hgnc_id": 9344,
"hgvs_c": "c.1237G>T",
"hgvs_p": "p.Val413Phe",
"transcript": "ENST00000949391.1",
"protein_id": "ENSP00000619450.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 461,
"cds_start": 1237,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949391.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRCP",
"gene_hgnc_id": 9344,
"hgvs_c": "c.1180G>T",
"hgvs_p": "p.Val394Phe",
"transcript": "ENST00000532809.2",
"protein_id": "ENSP00000437169.2",
"transcript_support_level": 3,
"aa_start": 394,
"aa_end": null,
"aa_length": 442,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532809.2"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRCP",
"gene_hgnc_id": 9344,
"hgvs_c": "c.1072G>T",
"hgvs_p": "p.Val358Phe",
"transcript": "ENST00000913715.1",
"protein_id": "ENSP00000583774.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 406,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913715.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRCP",
"gene_hgnc_id": 9344,
"hgvs_c": "c.1027G>T",
"hgvs_p": "p.Val343Phe",
"transcript": "NM_001319214.2",
"protein_id": "NP_001306143.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 391,
"cds_start": 1027,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319214.2"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRCP",
"gene_hgnc_id": 9344,
"hgvs_c": "c.1027G>T",
"hgvs_p": "p.Val343Phe",
"transcript": "ENST00000531801.6",
"protein_id": "ENSP00000432004.2",
"transcript_support_level": 5,
"aa_start": 343,
"aa_end": null,
"aa_length": 391,
"cds_start": 1027,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000531801.6"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRCP",
"gene_hgnc_id": 9344,
"hgvs_c": "c.1027G>T",
"hgvs_p": "p.Val343Phe",
"transcript": "ENST00000534264.2",
"protein_id": "ENSP00000436095.2",
"transcript_support_level": 4,
"aa_start": 343,
"aa_end": null,
"aa_length": 391,
"cds_start": 1027,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534264.2"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRCP",
"gene_hgnc_id": 9344,
"hgvs_c": "c.1027G>T",
"hgvs_p": "p.Val343Phe",
"transcript": "ENST00000679387.1",
"protein_id": "ENSP00000506058.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 391,
"cds_start": 1027,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679387.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRCP",
"gene_hgnc_id": 9344,
"hgvs_c": "c.1027G>T",
"hgvs_p": "p.Val343Phe",
"transcript": "ENST00000679623.1",
"protein_id": "ENSP00000506508.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 391,
"cds_start": 1027,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679623.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRCP",
"gene_hgnc_id": 9344,
"hgvs_c": "c.1027G>T",
"hgvs_p": "p.Val343Phe",
"transcript": "ENST00000680566.1",
"protein_id": "ENSP00000505064.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 391,
"cds_start": 1027,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680566.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRCP",
"gene_hgnc_id": 9344,
"hgvs_c": "c.1027G>T",
"hgvs_p": "p.Val343Phe",
"transcript": "ENST00000681637.1",
"protein_id": "ENSP00000506101.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 391,
"cds_start": 1027,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681637.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRCP",
"gene_hgnc_id": 9344,
"hgvs_c": "c.730G>T",
"hgvs_p": "p.Val244Phe",
"transcript": "ENST00000680437.1",
"protein_id": "ENSP00000505089.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 292,
"cds_start": 730,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680437.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRCP",
"gene_hgnc_id": 9344,
"hgvs_c": "c.238G>T",
"hgvs_p": "p.Val80Phe",
"transcript": "ENST00000679809.1",
"protein_id": "ENSP00000506290.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 128,
"cds_start": 238,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679809.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRCP",
"gene_hgnc_id": 9344,
"hgvs_c": "c.238G>T",
"hgvs_p": "p.Val80Phe",
"transcript": "ENST00000680040.1",
"protein_id": "ENSP00000506579.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 128,
"cds_start": 238,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680040.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRCP",
"gene_hgnc_id": 9344,
"hgvs_c": "c.238G>T",
"hgvs_p": "p.Val80Phe",
"transcript": "ENST00000680186.1",
"protein_id": "ENSP00000505188.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 128,
"cds_start": 238,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680186.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRCP",
"gene_hgnc_id": 9344,
"hgvs_c": "c.238G>T",
"hgvs_p": "p.Val80Phe",
"transcript": "ENST00000680524.1",
"protein_id": "ENSP00000506464.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 128,
"cds_start": 238,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680524.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRCP",
"gene_hgnc_id": 9344,
"hgvs_c": "c.238G>T",
"hgvs_p": "p.Val80Phe",
"transcript": "ENST00000681432.1",
"protein_id": "ENSP00000505091.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 128,
"cds_start": 238,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681432.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRCP",
"gene_hgnc_id": 9344,
"hgvs_c": "c.238G>T",
"hgvs_p": "p.Val80Phe",
"transcript": "ENST00000681592.1",
"protein_id": "ENSP00000505075.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 128,
"cds_start": 238,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681592.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRCP",
"gene_hgnc_id": 9344,
"hgvs_c": "c.238G>T",
"hgvs_p": "p.Val80Phe",
"transcript": "ENST00000681883.1",
"protein_id": "ENSP00000506008.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 128,
"cds_start": 238,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681883.1"
},
{
"aa_ref": "V",
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{
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],
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"computational_score_selected": 0.24385985732078552,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.138,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.728,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
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"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_199418.4",
"gene_symbol": "PRCP",
"hgnc_id": 9344,
"effects": [
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],
"inheritance_mode": "AR",
"hgvs_c": "c.1405G>T",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}