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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: 12-18696167-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=18696167&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 18696167,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_033123.4",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "c.1274A>G",
"hgvs_p": "p.Asn425Ser",
"transcript": "NM_033123.4",
"protein_id": "NP_149114.2",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 608,
"cds_start": 1274,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1493,
"cdna_end": null,
"cdna_length": 2105,
"mane_select": "ENST00000266505.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "c.1274A>G",
"hgvs_p": "p.Asn425Ser",
"transcript": "ENST00000266505.12",
"protein_id": "ENSP00000266505.7",
"transcript_support_level": 1,
"aa_start": 425,
"aa_end": null,
"aa_length": 608,
"cds_start": 1274,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1493,
"cdna_end": null,
"cdna_length": 2105,
"mane_select": "NM_033123.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "c.1397A>G",
"hgvs_p": "p.Asn466Ser",
"transcript": "ENST00000648272.1",
"protein_id": "ENSP00000497636.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 649,
"cds_start": 1397,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 1704,
"cdna_end": null,
"cdna_length": 2320,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "c.695A>G",
"hgvs_p": "p.Asn232Ser",
"transcript": "ENST00000539875.5",
"protein_id": "ENSP00000445026.1",
"transcript_support_level": 1,
"aa_start": 232,
"aa_end": null,
"aa_length": 415,
"cds_start": 695,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 793,
"cdna_end": null,
"cdna_length": 1398,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "n.*1139A>G",
"hgvs_p": null,
"transcript": "ENST00000318197.10",
"protein_id": "ENSP00000326397.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2113,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "n.*1139A>G",
"hgvs_p": null,
"transcript": "ENST00000318197.10",
"protein_id": "ENSP00000326397.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2113,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "c.962A>G",
"hgvs_p": "p.Asn321Ser",
"transcript": "NM_001330774.2",
"protein_id": "NP_001317703.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 504,
"cds_start": 962,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 1496,
"cdna_end": null,
"cdna_length": 2108,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "c.695A>G",
"hgvs_p": "p.Asn232Ser",
"transcript": "NM_001330769.1",
"protein_id": "NP_001317698.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 415,
"cds_start": 695,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 833,
"cdna_end": null,
"cdna_length": 1445,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "c.620A>G",
"hgvs_p": "p.Asn207Ser",
"transcript": "ENST00000538330.5",
"protein_id": "ENSP00000445880.1",
"transcript_support_level": 2,
"aa_start": 207,
"aa_end": null,
"aa_length": 390,
"cds_start": 620,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 1002,
"cdna_end": null,
"cdna_length": 1612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "c.479A>G",
"hgvs_p": "p.Asn160Ser",
"transcript": "ENST00000540421.5",
"protein_id": "ENSP00000445889.1",
"transcript_support_level": 3,
"aa_start": 160,
"aa_end": null,
"aa_length": 264,
"cds_start": 479,
"cds_end": null,
"cds_length": 797,
"cdna_start": 479,
"cdna_end": null,
"cdna_length": 797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "c.1397A>G",
"hgvs_p": "p.Asn466Ser",
"transcript": "XM_017020176.2",
"protein_id": "XP_016875665.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 659,
"cds_start": 1397,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 1616,
"cdna_end": null,
"cdna_length": 2214,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "c.1274A>G",
"hgvs_p": "p.Asn425Ser",
"transcript": "XM_017020177.2",
"protein_id": "XP_016875666.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 618,
"cds_start": 1274,
"cds_end": null,
"cds_length": 1857,
"cdna_start": 1493,
"cdna_end": null,
"cdna_length": 2091,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "c.1247A>G",
"hgvs_p": "p.Asn416Ser",
"transcript": "XM_017020178.2",
"protein_id": "XP_016875667.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 609,
"cds_start": 1247,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 1466,
"cdna_end": null,
"cdna_length": 2064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "c.1397A>G",
"hgvs_p": "p.Asn466Ser",
"transcript": "XM_047429827.1",
"protein_id": "XP_047285783.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 548,
"cds_start": 1397,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 1616,
"cdna_end": null,
"cdna_length": 1892,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "c.833A>G",
"hgvs_p": "p.Asn278Ser",
"transcript": "XM_017020182.2",
"protein_id": "XP_016875671.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 471,
"cds_start": 833,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 917,
"cdna_end": null,
"cdna_length": 1515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "c.818A>G",
"hgvs_p": "p.Asn273Ser",
"transcript": "XM_017020183.2",
"protein_id": "XP_016875672.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 466,
"cds_start": 818,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 1037,
"cdna_end": null,
"cdna_length": 1635,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "c.833A>G",
"hgvs_p": "p.Asn278Ser",
"transcript": "XM_024449254.2",
"protein_id": "XP_024305022.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 461,
"cds_start": 833,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 946,
"cdna_end": null,
"cdna_length": 1558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "c.686A>G",
"hgvs_p": "p.Asn229Ser",
"transcript": "XM_017020184.2",
"protein_id": "XP_016875673.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 422,
"cds_start": 686,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 1001,
"cdna_end": null,
"cdna_length": 1599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "c.695A>G",
"hgvs_p": "p.Asn232Ser",
"transcript": "XM_024449255.2",
"protein_id": "XP_024305023.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 415,
"cds_start": 695,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 914,
"cdna_end": null,
"cdna_length": 1526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "c.620A>G",
"hgvs_p": "p.Asn207Ser",
"transcript": "XM_017020185.3",
"protein_id": "XP_016875674.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 400,
"cds_start": 620,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 970,
"cdna_end": null,
"cdna_length": 1568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "c.620A>G",
"hgvs_p": "p.Asn207Ser",
"transcript": "XM_047429828.1",
"protein_id": "XP_047285784.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 400,
"cds_start": 620,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 999,
"cdna_end": null,
"cdna_length": 1597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "n.887A>G",
"hgvs_p": null,
"transcript": "ENST00000540270.5",
"protein_id": "ENSP00000443320.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLCZ1",
"gene_hgnc_id": 19218,
"hgvs_c": "n.797A>G",
"hgvs_p": null,
"transcript": "ENST00000542762.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
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}
],
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"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Uncertain_significance",
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"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Uncertain_significance",
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"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
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{
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"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "NM_033123.4",
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"effects": [
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"inheritance_mode": "AR",
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{
"score": 3,
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"PP5"
],
"verdict": "Uncertain_significance",
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],
"clinvar_disease": "Spermatogenic failure 17",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Spermatogenic failure 17",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}