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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: 10-6430871-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=6430871&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 6430871,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_006257.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCQ",
"gene_hgnc_id": 9410,
"hgvs_c": "c.1904G>T",
"hgvs_p": "p.Arg635Leu",
"transcript": "NM_006257.5",
"protein_id": "NP_006248.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 706,
"cds_start": 1904,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000263125.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006257.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCQ",
"gene_hgnc_id": 9410,
"hgvs_c": "c.1904G>T",
"hgvs_p": "p.Arg635Leu",
"transcript": "ENST00000263125.10",
"protein_id": "ENSP00000263125.5",
"transcript_support_level": 1,
"aa_start": 635,
"aa_end": null,
"aa_length": 706,
"cds_start": 1904,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006257.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263125.10"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCQ",
"gene_hgnc_id": 9410,
"hgvs_c": "c.1928G>T",
"hgvs_p": "p.Arg643Leu",
"transcript": "ENST00000915286.1",
"protein_id": "ENSP00000585345.1",
"transcript_support_level": null,
"aa_start": 643,
"aa_end": null,
"aa_length": 714,
"cds_start": 1928,
"cds_end": null,
"cds_length": 2145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915286.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCQ",
"gene_hgnc_id": 9410,
"hgvs_c": "c.1904G>T",
"hgvs_p": "p.Arg635Leu",
"transcript": "NM_001323265.1",
"protein_id": "NP_001310194.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 706,
"cds_start": 1904,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323265.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCQ",
"gene_hgnc_id": 9410,
"hgvs_c": "c.1904G>T",
"hgvs_p": "p.Arg635Leu",
"transcript": "ENST00000866196.1",
"protein_id": "ENSP00000536255.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 706,
"cds_start": 1904,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866196.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCQ",
"gene_hgnc_id": 9410,
"hgvs_c": "c.1904G>T",
"hgvs_p": "p.Arg635Leu",
"transcript": "ENST00000866197.1",
"protein_id": "ENSP00000536256.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 706,
"cds_start": 1904,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866197.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCQ",
"gene_hgnc_id": 9410,
"hgvs_c": "c.1904G>T",
"hgvs_p": "p.Arg635Leu",
"transcript": "ENST00000866198.1",
"protein_id": "ENSP00000536257.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 706,
"cds_start": 1904,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866198.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCQ",
"gene_hgnc_id": 9410,
"hgvs_c": "c.1904G>T",
"hgvs_p": "p.Arg635Leu",
"transcript": "ENST00000866199.1",
"protein_id": "ENSP00000536258.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 706,
"cds_start": 1904,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866199.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCQ",
"gene_hgnc_id": 9410,
"hgvs_c": "c.1904G>T",
"hgvs_p": "p.Arg635Leu",
"transcript": "ENST00000915287.1",
"protein_id": "ENSP00000585346.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 706,
"cds_start": 1904,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915287.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCQ",
"gene_hgnc_id": 9410,
"hgvs_c": "c.1904G>T",
"hgvs_p": "p.Arg635Leu",
"transcript": "ENST00000915288.1",
"protein_id": "ENSP00000585347.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 706,
"cds_start": 1904,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915288.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCQ",
"gene_hgnc_id": 9410,
"hgvs_c": "c.1904G>T",
"hgvs_p": "p.Arg635Leu",
"transcript": "ENST00000955425.1",
"protein_id": "ENSP00000625484.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 706,
"cds_start": 1904,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955425.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCQ",
"gene_hgnc_id": 9410,
"hgvs_c": "c.1796G>T",
"hgvs_p": "p.Arg599Leu",
"transcript": "NM_001282644.2",
"protein_id": "NP_001269573.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 670,
"cds_start": 1796,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282644.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCQ",
"gene_hgnc_id": 9410,
"hgvs_c": "c.1715G>T",
"hgvs_p": "p.Arg572Leu",
"transcript": "NM_001242413.2",
"protein_id": "NP_001229342.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 643,
"cds_start": 1715,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242413.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCQ",
"gene_hgnc_id": 9410,
"hgvs_c": "c.1715G>T",
"hgvs_p": "p.Arg572Leu",
"transcript": "ENST00000397176.6",
"protein_id": "ENSP00000380361.2",
"transcript_support_level": 5,
"aa_start": 572,
"aa_end": null,
"aa_length": 643,
"cds_start": 1715,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397176.6"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCQ",
"gene_hgnc_id": 9410,
"hgvs_c": "c.1715G>T",
"hgvs_p": "p.Arg572Leu",
"transcript": "ENST00000955426.1",
"protein_id": "ENSP00000625485.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 643,
"cds_start": 1715,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955426.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCQ",
"gene_hgnc_id": 9410,
"hgvs_c": "c.1796G>T",
"hgvs_p": "p.Arg599Leu",
"transcript": "NM_001323267.2",
"protein_id": "NP_001310196.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 627,
"cds_start": 1796,
"cds_end": null,
"cds_length": 1884,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323267.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCQ",
"gene_hgnc_id": 9410,
"hgvs_c": "c.1529G>T",
"hgvs_p": "p.Arg510Leu",
"transcript": "NM_001282645.1",
"protein_id": "NP_001269574.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 581,
"cds_start": 1529,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282645.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCQ",
"gene_hgnc_id": 9410,
"hgvs_c": "c.1529G>T",
"hgvs_p": "p.Arg510Leu",
"transcript": "NM_001323266.2",
"protein_id": "NP_001310195.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 581,
"cds_start": 1529,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323266.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCQ",
"gene_hgnc_id": 9410,
"hgvs_c": "c.1529G>T",
"hgvs_p": "p.Arg510Leu",
"transcript": "ENST00000539722.5",
"protein_id": "ENSP00000441752.1",
"transcript_support_level": 2,
"aa_start": 510,
"aa_end": null,
"aa_length": 581,
"cds_start": 1529,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539722.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCQ",
"gene_hgnc_id": 9410,
"hgvs_c": "c.1043G>T",
"hgvs_p": "p.Arg348Leu",
"transcript": "ENST00000955424.1",
"protein_id": "ENSP00000625483.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 419,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955424.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCQ",
"gene_hgnc_id": 9410,
"hgvs_c": "c.2006G>T",
"hgvs_p": "p.Arg669Leu",
"transcript": "XM_005252496.5",
"protein_id": "XP_005252553.1",
"transcript_support_level": null,
"aa_start": 669,
"aa_end": null,
"aa_length": 740,
"cds_start": 2006,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005252496.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKCQ",
"gene_hgnc_id": 9410,
"hgvs_c": "c.2006G>T",
"hgvs_p": "p.Arg669Leu",
"transcript": "XM_005252497.5",
"protein_id": "XP_005252554.1",
"transcript_support_level": null,
"aa_start": 669,
"aa_end": null,
"aa_length": 697,
"cds_start": 2006,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"verdict": "Uncertain_significance",
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{
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"clinvar_review_status": "",
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}