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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: 14-90875205-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=90875205&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 90875205,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_004755.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA5",
"gene_hgnc_id": 10434,
"hgvs_c": "c.1992C>G",
"hgvs_p": "p.Ile664Met",
"transcript": "NM_004755.4",
"protein_id": "NP_004746.2",
"transcript_support_level": null,
"aa_start": 664,
"aa_end": null,
"aa_length": 802,
"cds_start": 1992,
"cds_end": null,
"cds_length": 2409,
"cdna_start": 2199,
"cdna_end": null,
"cdna_length": 26829,
"mane_select": "ENST00000614987.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004755.4"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA5",
"gene_hgnc_id": 10434,
"hgvs_c": "c.1992C>G",
"hgvs_p": "p.Ile664Met",
"transcript": "ENST00000614987.5",
"protein_id": "ENSP00000479667.1",
"transcript_support_level": 1,
"aa_start": 664,
"aa_end": null,
"aa_length": 802,
"cds_start": 1992,
"cds_end": null,
"cds_length": 2409,
"cdna_start": 2199,
"cdna_end": null,
"cdna_length": 26829,
"mane_select": "NM_004755.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000614987.5"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA5",
"gene_hgnc_id": 10434,
"hgvs_c": "c.2025C>G",
"hgvs_p": "p.Ile675Met",
"transcript": "ENST00000886639.1",
"protein_id": "ENSP00000556698.1",
"transcript_support_level": null,
"aa_start": 675,
"aa_end": null,
"aa_length": 813,
"cds_start": 2025,
"cds_end": null,
"cds_length": 2442,
"cdna_start": 2128,
"cdna_end": null,
"cdna_length": 3130,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886639.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA5",
"gene_hgnc_id": 10434,
"hgvs_c": "c.1971C>G",
"hgvs_p": "p.Ile657Met",
"transcript": "NM_001322229.2",
"protein_id": "NP_001309158.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 795,
"cds_start": 1971,
"cds_end": null,
"cds_length": 2388,
"cdna_start": 2178,
"cdna_end": null,
"cdna_length": 26808,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322229.2"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA5",
"gene_hgnc_id": 10434,
"hgvs_c": "c.1971C>G",
"hgvs_p": "p.Ile657Met",
"transcript": "ENST00000886636.1",
"protein_id": "ENSP00000556695.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 795,
"cds_start": 1971,
"cds_end": null,
"cds_length": 2388,
"cdna_start": 2196,
"cdna_end": null,
"cdna_length": 3198,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886636.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA5",
"gene_hgnc_id": 10434,
"hgvs_c": "c.1941C>G",
"hgvs_p": "p.Ile647Met",
"transcript": "ENST00000886637.1",
"protein_id": "ENSP00000556696.1",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 785,
"cds_start": 1941,
"cds_end": null,
"cds_length": 2358,
"cdna_start": 2140,
"cdna_end": null,
"cdna_length": 3142,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886637.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA5",
"gene_hgnc_id": 10434,
"hgvs_c": "c.1908C>G",
"hgvs_p": "p.Ile636Met",
"transcript": "NM_001322236.2",
"protein_id": "NP_001309165.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 774,
"cds_start": 1908,
"cds_end": null,
"cds_length": 2325,
"cdna_start": 2115,
"cdna_end": null,
"cdna_length": 26745,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322236.2"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA5",
"gene_hgnc_id": 10434,
"hgvs_c": "c.1908C>G",
"hgvs_p": "p.Ile636Met",
"transcript": "ENST00000946930.1",
"protein_id": "ENSP00000616989.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 774,
"cds_start": 1908,
"cds_end": null,
"cds_length": 2325,
"cdna_start": 2097,
"cdna_end": null,
"cdna_length": 3760,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946930.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA5",
"gene_hgnc_id": 10434,
"hgvs_c": "c.1899C>G",
"hgvs_p": "p.Ile633Met",
"transcript": "ENST00000946932.1",
"protein_id": "ENSP00000616991.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 771,
"cds_start": 1899,
"cds_end": null,
"cds_length": 2316,
"cdna_start": 2053,
"cdna_end": null,
"cdna_length": 3055,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946932.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA5",
"gene_hgnc_id": 10434,
"hgvs_c": "c.1884C>G",
"hgvs_p": "p.Ile628Met",
"transcript": "NM_001322228.2",
"protein_id": "NP_001309157.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 766,
"cds_start": 1884,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 2091,
"cdna_end": null,
"cdna_length": 26721,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322228.2"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA5",
"gene_hgnc_id": 10434,
"hgvs_c": "c.1884C>G",
"hgvs_p": "p.Ile628Met",
"transcript": "ENST00000886635.1",
"protein_id": "ENSP00000556694.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 766,
"cds_start": 1884,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 2120,
"cdna_end": null,
"cdna_length": 3122,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886635.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA5",
"gene_hgnc_id": 10434,
"hgvs_c": "c.1830C>G",
"hgvs_p": "p.Ile610Met",
"transcript": "NM_001322233.2",
"protein_id": "NP_001309162.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 748,
"cds_start": 1830,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 2037,
"cdna_end": null,
"cdna_length": 26667,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322233.2"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA5",
"gene_hgnc_id": 10434,
"hgvs_c": "c.1830C>G",
"hgvs_p": "p.Ile610Met",
"transcript": "ENST00000886638.1",
"protein_id": "ENSP00000556697.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 748,
"cds_start": 1830,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 2019,
"cdna_end": null,
"cdna_length": 3021,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886638.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA5",
"gene_hgnc_id": 10434,
"hgvs_c": "c.1773C>G",
"hgvs_p": "p.Ile591Met",
"transcript": "NM_001322232.2",
"protein_id": "NP_001309161.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 729,
"cds_start": 1773,
"cds_end": null,
"cds_length": 2190,
"cdna_start": 1980,
"cdna_end": null,
"cdna_length": 26610,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322232.2"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA5",
"gene_hgnc_id": 10434,
"hgvs_c": "c.1773C>G",
"hgvs_p": "p.Ile591Met",
"transcript": "ENST00000946931.1",
"protein_id": "ENSP00000616990.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 729,
"cds_start": 1773,
"cds_end": null,
"cds_length": 2190,
"cdna_start": 2021,
"cdna_end": null,
"cdna_length": 3023,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946931.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA5",
"gene_hgnc_id": 10434,
"hgvs_c": "c.1755C>G",
"hgvs_p": "p.Ile585Met",
"transcript": "NM_001322235.2",
"protein_id": "NP_001309164.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 723,
"cds_start": 1755,
"cds_end": null,
"cds_length": 2172,
"cdna_start": 2339,
"cdna_end": null,
"cdna_length": 26969,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322235.2"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA5",
"gene_hgnc_id": 10434,
"hgvs_c": "c.1755C>G",
"hgvs_p": "p.Ile585Met",
"transcript": "NM_001322237.2",
"protein_id": "NP_001309166.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 723,
"cds_start": 1755,
"cds_end": null,
"cds_length": 2172,
"cdna_start": 1996,
"cdna_end": null,
"cdna_length": 26626,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322237.2"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA5",
"gene_hgnc_id": 10434,
"hgvs_c": "c.1755C>G",
"hgvs_p": "p.Ile585Met",
"transcript": "ENST00000536315.6",
"protein_id": "ENSP00000442803.2",
"transcript_support_level": 2,
"aa_start": 585,
"aa_end": null,
"aa_length": 723,
"cds_start": 1755,
"cds_end": null,
"cds_length": 2172,
"cdna_start": 2006,
"cdna_end": null,
"cdna_length": 2993,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000536315.6"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA5",
"gene_hgnc_id": 10434,
"hgvs_c": "c.1701C>G",
"hgvs_p": "p.Ile567Met",
"transcript": "ENST00000946933.1",
"protein_id": "ENSP00000616992.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 705,
"cds_start": 1701,
"cds_end": null,
"cds_length": 2118,
"cdna_start": 1849,
"cdna_end": null,
"cdna_length": 2826,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946933.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA5",
"gene_hgnc_id": 10434,
"hgvs_c": "c.1416C>G",
"hgvs_p": "p.Ile472Met",
"transcript": "NM_001322234.2",
"protein_id": "NP_001309163.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 610,
"cds_start": 1416,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 2236,
"cdna_end": null,
"cdna_length": 26866,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322234.2"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA5",
"gene_hgnc_id": 10434,
"hgvs_c": "c.1335C>G",
"hgvs_p": "p.Ile445Met",
"transcript": "NM_001322238.2",
"protein_id": "NP_001309167.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 583,
"cds_start": 1335,
"cds_end": null,
"cds_length": 1752,
"cdna_start": 1705,
"cdna_end": null,
"cdna_length": 26335,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322238.2"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA5",
"gene_hgnc_id": 10434,
"hgvs_c": "c.1275C>G",
"hgvs_p": "p.Ile425Met",
"transcript": "NM_001322231.2",
"protein_id": "NP_001309160.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 563,
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"feature": "NM_001322231.2"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
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"gene_symbol": "RPS6KA5",
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"hgvs_c": "c.1149C>G",
"hgvs_p": "p.Ile383Met",
"transcript": "NM_001322227.2",
"protein_id": "NP_001309156.1",
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"feature": "NM_001322227.2"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 14,
"intron_rank": null,
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"transcript": "ENST00000556178.5",
"protein_id": "ENSP00000451305.1",
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 2118,
"mane_select": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000556178.5"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 19,
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"gene_symbol": "RPS6KA5",
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"feature": "ENST00000648062.1"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "RPS6KA5",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000556178.5"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
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"exon_count": 19,
"intron_rank": null,
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"gene_symbol": "RPS6KA5",
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"hgvs_c": "n.*1618C>G",
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"transcript": "ENST00000648062.1",
"protein_id": "ENSP00000497354.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4065,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000648062.1"
}
],
"gene_symbol": "RPS6KA5",
"gene_hgnc_id": 10434,
"dbsnp": "rs767594984",
"frequency_reference_population": 0.0000013702028,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.0000013702,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8050878047943115,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.47,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5618,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 0.591,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004755.4",
"gene_symbol": "RPS6KA5",
"hgnc_id": 10434,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1992C>G",
"hgvs_p": "p.Ile664Met"
}
],
"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
}