← Back to variant description
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: X-20195143-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=20195143&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 20195143,
"ref": "G",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000379565.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.328C>G",
"hgvs_p": "p.Arg110Gly",
"transcript": "NM_004586.3",
"protein_id": "NP_004577.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 740,
"cds_start": 328,
"cds_end": null,
"cds_length": 2223,
"cdna_start": 605,
"cdna_end": null,
"cdna_length": 7987,
"mane_select": "ENST00000379565.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.328C>G",
"hgvs_p": "p.Arg110Gly",
"transcript": "ENST00000379565.9",
"protein_id": "ENSP00000368884.3",
"transcript_support_level": 1,
"aa_start": 110,
"aa_end": null,
"aa_length": 740,
"cds_start": 328,
"cds_end": null,
"cds_length": 2223,
"cdna_start": 605,
"cdna_end": null,
"cdna_length": 7987,
"mane_select": "NM_004586.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.244C>G",
"hgvs_p": "p.Arg82Gly",
"transcript": "NM_001438340.1",
"protein_id": "NP_001425269.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 712,
"cds_start": 244,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 311,
"cdna_end": null,
"cdna_length": 7693,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.244C>G",
"hgvs_p": "p.Arg82Gly",
"transcript": "ENST00000642835.1",
"protein_id": "ENSP00000494769.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 712,
"cds_start": 244,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 526,
"cdna_end": null,
"cdna_length": 2841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.244C>G",
"hgvs_p": "p.Arg82Gly",
"transcript": "ENST00000643085.1",
"protein_id": "ENSP00000496271.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 712,
"cds_start": 244,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 433,
"cdna_end": null,
"cdna_length": 4064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.244C>G",
"hgvs_p": "p.Arg82Gly",
"transcript": "ENST00000643337.1",
"protein_id": "ENSP00000493487.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 712,
"cds_start": 244,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 727,
"cdna_end": null,
"cdna_length": 3054,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.244C>G",
"hgvs_p": "p.Arg82Gly",
"transcript": "ENST00000643402.1",
"protein_id": "ENSP00000493862.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 712,
"cds_start": 244,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 591,
"cdna_end": null,
"cdna_length": 3294,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.244C>G",
"hgvs_p": "p.Arg82Gly",
"transcript": "ENST00000644368.1",
"protein_id": "ENSP00000495776.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 712,
"cds_start": 244,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 449,
"cdna_end": null,
"cdna_length": 2991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.244C>G",
"hgvs_p": "p.Arg82Gly",
"transcript": "ENST00000645270.1",
"protein_id": "ENSP00000494967.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 712,
"cds_start": 244,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 475,
"cdna_end": null,
"cdna_length": 3961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.244C>G",
"hgvs_p": "p.Arg82Gly",
"transcript": "ENST00000646610.1",
"protein_id": "ENSP00000495462.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 712,
"cds_start": 244,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 321,
"cdna_end": null,
"cdna_length": 2682,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.244C>G",
"hgvs_p": "p.Arg82Gly",
"transcript": "ENST00000647265.1",
"protein_id": "ENSP00000494220.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 712,
"cds_start": 244,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 509,
"cdna_end": null,
"cdna_length": 3015,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.241C>G",
"hgvs_p": "p.Arg81Gly",
"transcript": "ENST00000457145.6",
"protein_id": "ENSP00000407655.2",
"transcript_support_level": 2,
"aa_start": 81,
"aa_end": null,
"aa_length": 711,
"cds_start": 241,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 362,
"cdna_end": null,
"cdna_length": 2820,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.244C>G",
"hgvs_p": "p.Arg82Gly",
"transcript": "ENST00000644893.1",
"protein_id": "ENSP00000495974.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 711,
"cds_start": 244,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 418,
"cdna_end": null,
"cdna_length": 2451,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.328C>G",
"hgvs_p": "p.Arg110Gly",
"transcript": "XM_011545555.2",
"protein_id": "XP_011543857.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 746,
"cds_start": 328,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 605,
"cdna_end": null,
"cdna_length": 3944,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.328C>G",
"hgvs_p": "p.Arg110Gly",
"transcript": "XM_011545556.2",
"protein_id": "XP_011543858.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 745,
"cds_start": 328,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 605,
"cdna_end": null,
"cdna_length": 8002,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.328C>G",
"hgvs_p": "p.Arg110Gly",
"transcript": "XM_047442332.1",
"protein_id": "XP_047298288.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 740,
"cds_start": 328,
"cds_end": null,
"cds_length": 2223,
"cdna_start": 605,
"cdna_end": null,
"cdna_length": 3926,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.328C>G",
"hgvs_p": "p.Arg110Gly",
"transcript": "XM_005274573.3",
"protein_id": "XP_005274630.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 739,
"cds_start": 328,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 605,
"cdna_end": null,
"cdna_length": 7984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.328C>G",
"hgvs_p": "p.Arg110Gly",
"transcript": "XM_047442333.1",
"protein_id": "XP_047298289.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 739,
"cds_start": 328,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 605,
"cdna_end": null,
"cdna_length": 3923,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.244C>G",
"hgvs_p": "p.Arg82Gly",
"transcript": "XM_011545557.3",
"protein_id": "XP_011543859.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 718,
"cds_start": 244,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 736,
"cdna_end": null,
"cdna_length": 8136,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.244C>G",
"hgvs_p": "p.Arg82Gly",
"transcript": "XM_011545560.2",
"protein_id": "XP_011543862.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 718,
"cds_start": 244,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 642,
"cdna_end": null,
"cdna_length": 8042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.244C>G",
"hgvs_p": "p.Arg82Gly",
"transcript": "XM_011545561.3",
"protein_id": "XP_011543863.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 718,
"cds_start": 244,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 318,
"cdna_end": null,
"cdna_length": 7718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.241C>G",
"hgvs_p": "p.Arg81Gly",
"transcript": "XM_011545562.3",
"protein_id": "XP_011543864.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 717,
"cds_start": 241,
"cds_end": null,
"cds_length": 2154,
"cdna_start": 350,
"cdna_end": null,
"cdna_length": 7750,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.244C>G",
"hgvs_p": "p.Arg82Gly",
"transcript": "XM_047442334.1",
"protein_id": "XP_047298290.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 712,
"cds_start": 244,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 642,
"cdna_end": null,
"cdna_length": 8024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.244C>G",
"hgvs_p": "p.Arg82Gly",
"transcript": "XM_047442335.1",
"protein_id": "XP_047298291.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 712,
"cds_start": 244,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 315,
"cdna_end": null,
"cdna_length": 3636,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.241C>G",
"hgvs_p": "p.Arg81Gly",
"transcript": "XM_017029718.3",
"protein_id": "XP_016885207.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 711,
"cds_start": 241,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 350,
"cdna_end": null,
"cdna_length": 7732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.244C>G",
"hgvs_p": "p.Arg82Gly",
"transcript": "XM_017029719.3",
"protein_id": "XP_016885208.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 711,
"cds_start": 244,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 315,
"cdna_end": null,
"cdna_length": 7694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.244C>G",
"hgvs_p": "p.Arg82Gly",
"transcript": "XM_047442336.1",
"protein_id": "XP_047298292.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 711,
"cds_start": 244,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 642,
"cdna_end": null,
"cdna_length": 8021,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "c.241C>G",
"hgvs_p": "p.Arg81Gly",
"transcript": "XM_005274577.4",
"protein_id": "XP_005274634.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 710,
"cds_start": 241,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 350,
"cdna_end": null,
"cdna_length": 7729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "n.127C>G",
"hgvs_p": null,
"transcript": "ENST00000645268.1",
"protein_id": "ENSP00000496226.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"hgvs_c": "n.212-6609C>G",
"hgvs_p": null,
"transcript": "ENST00000643073.1",
"protein_id": "ENSP00000495839.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2393,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RPS6KA3",
"gene_hgnc_id": 10432,
"dbsnp": "rs1555943484",
"frequency_reference_population": 9.650181e-7,
"hom_count_reference_population": 1,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 9.65018e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.845098614692688,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.453,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9862,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.23,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 3.437,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PP2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000379565.9",
"gene_symbol": "RPS6KA3",
"hgnc_id": 10432,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD,XL",
"hgvs_c": "c.328C>G",
"hgvs_p": "p.Arg110Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}