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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: 14-90873661-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=90873661&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 90873661,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_004755.4",
"consequences": [
{
"aa_ref": "V",
"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": "RPS6KA5",
"gene_hgnc_id": 10434,
"hgvs_c": "c.2131G>T",
"hgvs_p": "p.Val711Leu",
"transcript": "NM_004755.4",
"protein_id": "NP_004746.2",
"transcript_support_level": null,
"aa_start": 711,
"aa_end": null,
"aa_length": 802,
"cds_start": 2131,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000614987.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004755.4"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"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": "RPS6KA5",
"gene_hgnc_id": 10434,
"hgvs_c": "c.2131G>T",
"hgvs_p": "p.Val711Leu",
"transcript": "ENST00000614987.5",
"protein_id": "ENSP00000479667.1",
"transcript_support_level": 1,
"aa_start": 711,
"aa_end": null,
"aa_length": 802,
"cds_start": 2131,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004755.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000614987.5"
},
{
"aa_ref": "V",
"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": "RPS6KA5",
"gene_hgnc_id": 10434,
"hgvs_c": "c.2164G>T",
"hgvs_p": "p.Val722Leu",
"transcript": "ENST00000886639.1",
"protein_id": "ENSP00000556698.1",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 813,
"cds_start": 2164,
"cds_end": null,
"cds_length": 2442,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886639.1"
},
{
"aa_ref": "V",
"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": "RPS6KA5",
"gene_hgnc_id": 10434,
"hgvs_c": "c.2110G>T",
"hgvs_p": "p.Val704Leu",
"transcript": "NM_001322229.2",
"protein_id": "NP_001309158.1",
"transcript_support_level": null,
"aa_start": 704,
"aa_end": null,
"aa_length": 795,
"cds_start": 2110,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322229.2"
},
{
"aa_ref": "V",
"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": "RPS6KA5",
"gene_hgnc_id": 10434,
"hgvs_c": "c.2110G>T",
"hgvs_p": "p.Val704Leu",
"transcript": "ENST00000886636.1",
"protein_id": "ENSP00000556695.1",
"transcript_support_level": null,
"aa_start": 704,
"aa_end": null,
"aa_length": 795,
"cds_start": 2110,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886636.1"
},
{
"aa_ref": "V",
"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": "RPS6KA5",
"gene_hgnc_id": 10434,
"hgvs_c": "c.2080G>T",
"hgvs_p": "p.Val694Leu",
"transcript": "ENST00000886637.1",
"protein_id": "ENSP00000556696.1",
"transcript_support_level": null,
"aa_start": 694,
"aa_end": null,
"aa_length": 785,
"cds_start": 2080,
"cds_end": null,
"cds_length": 2358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886637.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA5",
"gene_hgnc_id": 10434,
"hgvs_c": "c.2047G>T",
"hgvs_p": "p.Val683Leu",
"transcript": "NM_001322236.2",
"protein_id": "NP_001309165.1",
"transcript_support_level": null,
"aa_start": 683,
"aa_end": null,
"aa_length": 774,
"cds_start": 2047,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322236.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA5",
"gene_hgnc_id": 10434,
"hgvs_c": "c.2047G>T",
"hgvs_p": "p.Val683Leu",
"transcript": "ENST00000946930.1",
"protein_id": "ENSP00000616989.1",
"transcript_support_level": null,
"aa_start": 683,
"aa_end": null,
"aa_length": 774,
"cds_start": 2047,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946930.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA5",
"gene_hgnc_id": 10434,
"hgvs_c": "c.2038G>T",
"hgvs_p": "p.Val680Leu",
"transcript": "ENST00000946932.1",
"protein_id": "ENSP00000616991.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 771,
"cds_start": 2038,
"cds_end": null,
"cds_length": 2316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946932.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA5",
"gene_hgnc_id": 10434,
"hgvs_c": "c.2023G>T",
"hgvs_p": "p.Val675Leu",
"transcript": "NM_001322228.2",
"protein_id": "NP_001309157.1",
"transcript_support_level": null,
"aa_start": 675,
"aa_end": null,
"aa_length": 766,
"cds_start": 2023,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322228.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA5",
"gene_hgnc_id": 10434,
"hgvs_c": "c.2023G>T",
"hgvs_p": "p.Val675Leu",
"transcript": "ENST00000886635.1",
"protein_id": "ENSP00000556694.1",
"transcript_support_level": null,
"aa_start": 675,
"aa_end": null,
"aa_length": 766,
"cds_start": 2023,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886635.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA5",
"gene_hgnc_id": 10434,
"hgvs_c": "c.1969G>T",
"hgvs_p": "p.Val657Leu",
"transcript": "NM_001322233.2",
"protein_id": "NP_001309162.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 748,
"cds_start": 1969,
"cds_end": null,
"cds_length": 2247,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322233.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA5",
"gene_hgnc_id": 10434,
"hgvs_c": "c.1969G>T",
"hgvs_p": "p.Val657Leu",
"transcript": "ENST00000886638.1",
"protein_id": "ENSP00000556697.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 748,
"cds_start": 1969,
"cds_end": null,
"cds_length": 2247,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886638.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA5",
"gene_hgnc_id": 10434,
"hgvs_c": "c.1912G>T",
"hgvs_p": "p.Val638Leu",
"transcript": "NM_001322232.2",
"protein_id": "NP_001309161.1",
"transcript_support_level": null,
"aa_start": 638,
"aa_end": null,
"aa_length": 729,
"cds_start": 1912,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322232.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA5",
"gene_hgnc_id": 10434,
"hgvs_c": "c.1912G>T",
"hgvs_p": "p.Val638Leu",
"transcript": "ENST00000946931.1",
"protein_id": "ENSP00000616990.1",
"transcript_support_level": null,
"aa_start": 638,
"aa_end": null,
"aa_length": 729,
"cds_start": 1912,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946931.1"
},
{
"aa_ref": "V",
"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": "RPS6KA5",
"gene_hgnc_id": 10434,
"hgvs_c": "c.1894G>T",
"hgvs_p": "p.Val632Leu",
"transcript": "NM_001322235.2",
"protein_id": "NP_001309164.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 723,
"cds_start": 1894,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322235.2"
},
{
"aa_ref": "V",
"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": "RPS6KA5",
"gene_hgnc_id": 10434,
"hgvs_c": "c.1894G>T",
"hgvs_p": "p.Val632Leu",
"transcript": "NM_001322237.2",
"protein_id": "NP_001309166.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 723,
"cds_start": 1894,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322237.2"
},
{
"aa_ref": "V",
"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": "RPS6KA5",
"gene_hgnc_id": 10434,
"hgvs_c": "c.1894G>T",
"hgvs_p": "p.Val632Leu",
"transcript": "ENST00000536315.6",
"protein_id": "ENSP00000442803.2",
"transcript_support_level": 2,
"aa_start": 632,
"aa_end": null,
"aa_length": 723,
"cds_start": 1894,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000536315.6"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA5",
"gene_hgnc_id": 10434,
"hgvs_c": "c.1840G>T",
"hgvs_p": "p.Val614Leu",
"transcript": "ENST00000946933.1",
"protein_id": "ENSP00000616992.1",
"transcript_support_level": null,
"aa_start": 614,
"aa_end": null,
"aa_length": 705,
"cds_start": 1840,
"cds_end": null,
"cds_length": 2118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946933.1"
},
{
"aa_ref": "V",
"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": "RPS6KA5",
"gene_hgnc_id": 10434,
"hgvs_c": "c.1555G>T",
"hgvs_p": "p.Val519Leu",
"transcript": "NM_001322234.2",
"protein_id": "NP_001309163.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 610,
"cds_start": 1555,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322234.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA5",
"gene_hgnc_id": 10434,
"hgvs_c": "c.1474G>T",
"hgvs_p": "p.Val492Leu",
"transcript": "NM_001322238.2",
"protein_id": "NP_001309167.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 583,
"cds_start": 1474,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322238.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA5",
"gene_hgnc_id": 10434,
"hgvs_c": "c.1414G>T",
"hgvs_p": "p.Val472Leu",
"transcript": "NM_001322231.2",
"protein_id": "NP_001309160.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 563,
"cds_start": 1414,
"cds_end": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
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"exon_count": 18,
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"gene_symbol": "RPS6KA5",
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"hgvs_c": "c.1288G>T",
"hgvs_p": "p.Val430Leu",
"transcript": "NM_001322227.2",
"protein_id": "NP_001309156.1",
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"feature": "NM_001322227.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"gene_symbol": "RPS6KA5",
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"transcript": "ENST00000556178.5",
"protein_id": "ENSP00000451305.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000556178.5"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
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],
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"transcript": "ENST00000648062.1",
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{
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"protein_coding": false,
"strand": false,
"consequences": [
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],
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"gene_symbol": "RPS6KA5",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000556178.5"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
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"exon_count": 19,
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"gene_symbol": "RPS6KA5",
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"hgvs_c": "n.*1757G>T",
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"transcript": "ENST00000648062.1",
"protein_id": "ENSP00000497354.1",
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"aa_end": null,
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"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000648062.1"
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],
"gene_symbol": "RPS6KA5",
"gene_hgnc_id": 10434,
"dbsnp": "rs780918760",
"frequency_reference_population": 0.0000030978474,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.0000027363,
"gnomad_genomes_af": 0.00000657039,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.659947395324707,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.147,
"revel_prediction": "Benign",
"alphamissense_score": 0.3426,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.874,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.02,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004755.4",
"gene_symbol": "RPS6KA5",
"hgnc_id": 10434,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2131G>T",
"hgvs_p": "p.Val711Leu"
}
],
"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
}