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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: 19-48062095-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=48062095&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 48062095,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001159322.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G4C",
"gene_hgnc_id": 9037,
"hgvs_c": "c.1160G>C",
"hgvs_p": "p.Gly387Ala",
"transcript": "NM_003706.3",
"protein_id": "NP_003697.2",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 541,
"cds_start": 1160,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000599921.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003706.3"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G4C",
"gene_hgnc_id": 9037,
"hgvs_c": "c.1160G>C",
"hgvs_p": "p.Gly387Ala",
"transcript": "ENST00000599921.6",
"protein_id": "ENSP00000469473.1",
"transcript_support_level": 1,
"aa_start": 387,
"aa_end": null,
"aa_length": 541,
"cds_start": 1160,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003706.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000599921.6"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G4C",
"gene_hgnc_id": 9037,
"hgvs_c": "c.224G>C",
"hgvs_p": "p.Gly75Ala",
"transcript": "ENST00000595161.5",
"protein_id": "ENSP00000469528.1",
"transcript_support_level": 3,
"aa_start": 75,
"aa_end": null,
"aa_length": 129,
"cds_start": 224,
"cds_end": null,
"cds_length": 390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000595161.5"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G4C",
"gene_hgnc_id": 9037,
"hgvs_c": "c.1217G>C",
"hgvs_p": "p.Gly406Ala",
"transcript": "ENST00000887096.1",
"protein_id": "ENSP00000557155.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 560,
"cds_start": 1217,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887096.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G4C",
"gene_hgnc_id": 9037,
"hgvs_c": "c.1193G>C",
"hgvs_p": "p.Gly398Ala",
"transcript": "ENST00000887093.1",
"protein_id": "ENSP00000557152.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 552,
"cds_start": 1193,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887093.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G4C",
"gene_hgnc_id": 9037,
"hgvs_c": "c.1190G>C",
"hgvs_p": "p.Gly397Ala",
"transcript": "NM_001159322.2",
"protein_id": "NP_001152794.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 551,
"cds_start": 1190,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001159322.2"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G4C",
"gene_hgnc_id": 9037,
"hgvs_c": "c.1190G>C",
"hgvs_p": "p.Gly397Ala",
"transcript": "ENST00000599111.5",
"protein_id": "ENSP00000472546.1",
"transcript_support_level": 2,
"aa_start": 397,
"aa_end": null,
"aa_length": 551,
"cds_start": 1190,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000599111.5"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G4C",
"gene_hgnc_id": 9037,
"hgvs_c": "c.1139G>C",
"hgvs_p": "p.Gly380Ala",
"transcript": "ENST00000951724.1",
"protein_id": "ENSP00000621783.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 534,
"cds_start": 1139,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951724.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G4C",
"gene_hgnc_id": 9037,
"hgvs_c": "c.1160G>C",
"hgvs_p": "p.Gly387Ala",
"transcript": "NM_001159323.2",
"protein_id": "NP_001152795.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 527,
"cds_start": 1160,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001159323.2"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G4C",
"gene_hgnc_id": 9037,
"hgvs_c": "c.1160G>C",
"hgvs_p": "p.Gly387Ala",
"transcript": "ENST00000354276.7",
"protein_id": "ENSP00000346228.2",
"transcript_support_level": 2,
"aa_start": 387,
"aa_end": null,
"aa_length": 527,
"cds_start": 1160,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354276.7"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G4C",
"gene_hgnc_id": 9037,
"hgvs_c": "c.1106G>C",
"hgvs_p": "p.Gly369Ala",
"transcript": "ENST00000887089.1",
"protein_id": "ENSP00000557148.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 523,
"cds_start": 1106,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887089.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G4C",
"gene_hgnc_id": 9037,
"hgvs_c": "c.1106G>C",
"hgvs_p": "p.Gly369Ala",
"transcript": "ENST00000887091.1",
"protein_id": "ENSP00000557150.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 523,
"cds_start": 1106,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887091.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G4C",
"gene_hgnc_id": 9037,
"hgvs_c": "c.1079G>C",
"hgvs_p": "p.Gly360Ala",
"transcript": "ENST00000887090.1",
"protein_id": "ENSP00000557149.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 514,
"cds_start": 1079,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887090.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G4C",
"gene_hgnc_id": 9037,
"hgvs_c": "c.1079G>C",
"hgvs_p": "p.Gly360Ala",
"transcript": "ENST00000951723.1",
"protein_id": "ENSP00000621782.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 514,
"cds_start": 1079,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951723.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G4C",
"gene_hgnc_id": 9037,
"hgvs_c": "c.1079G>C",
"hgvs_p": "p.Gly360Ala",
"transcript": "ENST00000951725.1",
"protein_id": "ENSP00000621784.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 514,
"cds_start": 1079,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951725.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G4C",
"gene_hgnc_id": 9037,
"hgvs_c": "c.1064G>C",
"hgvs_p": "p.Gly355Ala",
"transcript": "ENST00000951720.1",
"protein_id": "ENSP00000621779.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 509,
"cds_start": 1064,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951720.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G4C",
"gene_hgnc_id": 9037,
"hgvs_c": "c.1052G>C",
"hgvs_p": "p.Gly351Ala",
"transcript": "ENST00000951719.1",
"protein_id": "ENSP00000621778.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 505,
"cds_start": 1052,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951719.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G4C",
"gene_hgnc_id": 9037,
"hgvs_c": "c.1025G>C",
"hgvs_p": "p.Gly342Ala",
"transcript": "ENST00000887097.1",
"protein_id": "ENSP00000557156.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 496,
"cds_start": 1025,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887097.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G4C",
"gene_hgnc_id": 9037,
"hgvs_c": "c.1025G>C",
"hgvs_p": "p.Gly342Ala",
"transcript": "ENST00000951726.1",
"protein_id": "ENSP00000621785.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 496,
"cds_start": 1025,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951726.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G4C",
"gene_hgnc_id": 9037,
"hgvs_c": "c.1019G>C",
"hgvs_p": "p.Gly340Ala",
"transcript": "ENST00000887092.1",
"protein_id": "ENSP00000557151.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 494,
"cds_start": 1019,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887092.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G4C",
"gene_hgnc_id": 9037,
"hgvs_c": "c.998G>C",
"hgvs_p": "p.Gly333Ala",
"transcript": "ENST00000951718.1",
"protein_id": "ENSP00000621777.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 487,
"cds_start": 998,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951718.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLA2G4C",
"gene_hgnc_id": 9037,
"hgvs_c": "c.971G>C",
"hgvs_p": "p.Gly324Ala",
"transcript": "ENST00000951722.1",
"protein_id": "ENSP00000621781.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 478,
"cds_start": 971,
"cds_end": null,
"cds_length": 1437,
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{
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"verdict": "Likely_benign",
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{
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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
}