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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: 19-48067815-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=48067815&ref=T&alt=A&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": "PLA2G4C",
"hgnc_id": 9037,
"hgvs_c": "c.1108A>T",
"hgvs_p": "p.Thr370Ser",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001159322.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 6,
"alphamissense_prediction": null,
"alphamissense_score": 0.2638,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.69,
"chr": "19",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.19288775324821472,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 541,
"aa_ref": "T",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2486,
"cdna_start": 1441,
"cds_end": null,
"cds_length": 1626,
"cds_start": 1078,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_003706.3",
"gene_hgnc_id": 9037,
"gene_symbol": "PLA2G4C",
"hgvs_c": "c.1078A>T",
"hgvs_p": "p.Thr360Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000599921.6",
"protein_coding": true,
"protein_id": "NP_003697.2",
"strand": false,
"transcript": "NM_003706.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 541,
"aa_ref": "T",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2486,
"cdna_start": 1441,
"cds_end": null,
"cds_length": 1626,
"cds_start": 1078,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000599921.6",
"gene_hgnc_id": 9037,
"gene_symbol": "PLA2G4C",
"hgvs_c": "c.1078A>T",
"hgvs_p": "p.Thr360Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003706.3",
"protein_coding": true,
"protein_id": "ENSP00000469473.1",
"strand": false,
"transcript": "ENST00000599921.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 129,
"aa_ref": "T",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 438,
"cdna_start": 143,
"cds_end": null,
"cds_length": 390,
"cds_start": 142,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000595161.5",
"gene_hgnc_id": 9037,
"gene_symbol": "PLA2G4C",
"hgvs_c": "c.142A>T",
"hgvs_p": "p.Thr48Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000469528.1",
"strand": false,
"transcript": "ENST00000595161.5",
"transcript_support_level": 3
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 560,
"aa_ref": "T",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2508,
"cdna_start": 1463,
"cds_end": null,
"cds_length": 1683,
"cds_start": 1135,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000887096.1",
"gene_hgnc_id": 9037,
"gene_symbol": "PLA2G4C",
"hgvs_c": "c.1135A>T",
"hgvs_p": "p.Thr379Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557155.1",
"strand": false,
"transcript": "ENST00000887096.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 552,
"aa_ref": "T",
"aa_start": 371,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2519,
"cdna_start": 1474,
"cds_end": null,
"cds_length": 1659,
"cds_start": 1111,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000887093.1",
"gene_hgnc_id": 9037,
"gene_symbol": "PLA2G4C",
"hgvs_c": "c.1111A>T",
"hgvs_p": "p.Thr371Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557152.1",
"strand": false,
"transcript": "ENST00000887093.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 551,
"aa_ref": "T",
"aa_start": 370,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2455,
"cdna_start": 1410,
"cds_end": null,
"cds_length": 1656,
"cds_start": 1108,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001159322.2",
"gene_hgnc_id": 9037,
"gene_symbol": "PLA2G4C",
"hgvs_c": "c.1108A>T",
"hgvs_p": "p.Thr370Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001152794.1",
"strand": false,
"transcript": "NM_001159322.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 551,
"aa_ref": "T",
"aa_start": 370,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2458,
"cdna_start": 1410,
"cds_end": null,
"cds_length": 1656,
"cds_start": 1108,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000599111.5",
"gene_hgnc_id": 9037,
"gene_symbol": "PLA2G4C",
"hgvs_c": "c.1108A>T",
"hgvs_p": "p.Thr370Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000472546.1",
"strand": false,
"transcript": "ENST00000599111.5",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 534,
"aa_ref": "T",
"aa_start": 353,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2463,
"cdna_start": 1420,
"cds_end": null,
"cds_length": 1605,
"cds_start": 1057,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000951724.1",
"gene_hgnc_id": 9037,
"gene_symbol": "PLA2G4C",
"hgvs_c": "c.1057A>T",
"hgvs_p": "p.Thr353Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621783.1",
"strand": false,
"transcript": "ENST00000951724.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 527,
"aa_ref": "T",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2529,
"cdna_start": 1441,
"cds_end": null,
"cds_length": 1584,
"cds_start": 1078,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001159323.2",
"gene_hgnc_id": 9037,
"gene_symbol": "PLA2G4C",
"hgvs_c": "c.1078A>T",
"hgvs_p": "p.Thr360Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001152795.1",
"strand": false,
"transcript": "NM_001159323.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 527,
"aa_ref": "T",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2496,
"cdna_start": 1406,
"cds_end": null,
"cds_length": 1584,
"cds_start": 1078,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000354276.7",
"gene_hgnc_id": 9037,
"gene_symbol": "PLA2G4C",
"hgvs_c": "c.1078A>T",
"hgvs_p": "p.Thr360Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000346228.2",
"strand": false,
"transcript": "ENST00000354276.7",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 523,
"aa_ref": "T",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2465,
"cdna_start": 1419,
"cds_end": null,
"cds_length": 1572,
"cds_start": 1024,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000887089.1",
"gene_hgnc_id": 9037,
"gene_symbol": "PLA2G4C",
"hgvs_c": "c.1024A>T",
"hgvs_p": "p.Thr342Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557148.1",
"strand": false,
"transcript": "ENST00000887089.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 523,
"aa_ref": "T",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2461,
"cdna_start": 1415,
"cds_end": null,
"cds_length": 1572,
"cds_start": 1024,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000887091.1",
"gene_hgnc_id": 9037,
"gene_symbol": "PLA2G4C",
"hgvs_c": "c.1024A>T",
"hgvs_p": "p.Thr342Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557150.1",
"strand": false,
"transcript": "ENST00000887091.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 514,
"aa_ref": "T",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2437,
"cdna_start": 1392,
"cds_end": null,
"cds_length": 1545,
"cds_start": 997,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000887090.1",
"gene_hgnc_id": 9037,
"gene_symbol": "PLA2G4C",
"hgvs_c": "c.997A>T",
"hgvs_p": "p.Thr333Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557149.1",
"strand": false,
"transcript": "ENST00000887090.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 514,
"aa_ref": "T",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2404,
"cdna_start": 1360,
"cds_end": null,
"cds_length": 1545,
"cds_start": 997,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000951723.1",
"gene_hgnc_id": 9037,
"gene_symbol": "PLA2G4C",
"hgvs_c": "c.997A>T",
"hgvs_p": "p.Thr333Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621782.1",
"strand": false,
"transcript": "ENST00000951723.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 514,
"aa_ref": "T",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2399,
"cdna_start": 1354,
"cds_end": null,
"cds_length": 1545,
"cds_start": 997,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000951725.1",
"gene_hgnc_id": 9037,
"gene_symbol": "PLA2G4C",
"hgvs_c": "c.997A>T",
"hgvs_p": "p.Thr333Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621784.1",
"strand": false,
"transcript": "ENST00000951725.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 505,
"aa_ref": "T",
"aa_start": 324,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2409,
"cdna_start": 1365,
"cds_end": null,
"cds_length": 1518,
"cds_start": 970,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000951719.1",
"gene_hgnc_id": 9037,
"gene_symbol": "PLA2G4C",
"hgvs_c": "c.970A>T",
"hgvs_p": "p.Thr324Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621778.1",
"strand": false,
"transcript": "ENST00000951719.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 496,
"aa_ref": "T",
"aa_start": 315,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2163,
"cdna_start": 1306,
"cds_end": null,
"cds_length": 1491,
"cds_start": 943,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000887097.1",
"gene_hgnc_id": 9037,
"gene_symbol": "PLA2G4C",
"hgvs_c": "c.943A>T",
"hgvs_p": "p.Thr315Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557156.1",
"strand": false,
"transcript": "ENST00000887097.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 496,
"aa_ref": "T",
"aa_start": 315,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2285,
"cdna_start": 1246,
"cds_end": null,
"cds_length": 1491,
"cds_start": 943,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000951726.1",
"gene_hgnc_id": 9037,
"gene_symbol": "PLA2G4C",
"hgvs_c": "c.943A>T",
"hgvs_p": "p.Thr315Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621785.1",
"strand": false,
"transcript": "ENST00000951726.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 494,
"aa_ref": "T",
"aa_start": 313,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2345,
"cdna_start": 1300,
"cds_end": null,
"cds_length": 1485,
"cds_start": 937,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000887092.1",
"gene_hgnc_id": 9037,
"gene_symbol": "PLA2G4C",
"hgvs_c": "c.937A>T",
"hgvs_p": "p.Thr313Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557151.1",
"strand": false,
"transcript": "ENST00000887092.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 487,
"aa_ref": "T",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2356,
"cdna_start": 1312,
"cds_end": null,
"cds_length": 1464,
"cds_start": 916,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000951718.1",
"gene_hgnc_id": 9037,
"gene_symbol": "PLA2G4C",
"hgvs_c": "c.916A>T",
"hgvs_p": "p.Thr306Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621777.1",
"strand": false,
"transcript": "ENST00000951718.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 478,
"aa_ref": "T",
"aa_start": 297,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2298,
"cdna_start": 1252,
"cds_end": null,
"cds_length": 1437,
"cds_start": 889,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000951722.1",
"gene_hgnc_id": 9037,
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