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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: 11-64369717-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=64369717&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 64369717,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_003942.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA4",
"gene_hgnc_id": 10433,
"hgvs_c": "c.1621G>A",
"hgvs_p": "p.Asp541Asn",
"transcript": "NM_003942.3",
"protein_id": "NP_003933.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 772,
"cds_start": 1621,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000334205.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003942.3"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA4",
"gene_hgnc_id": 10433,
"hgvs_c": "c.1621G>A",
"hgvs_p": "p.Asp541Asn",
"transcript": "ENST00000334205.9",
"protein_id": "ENSP00000333896.4",
"transcript_support_level": 1,
"aa_start": 541,
"aa_end": null,
"aa_length": 772,
"cds_start": 1621,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003942.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000334205.9"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA4",
"gene_hgnc_id": 10433,
"hgvs_c": "c.1600G>A",
"hgvs_p": "p.Asp534Asn",
"transcript": "ENST00000528057.5",
"protein_id": "ENSP00000435580.1",
"transcript_support_level": 1,
"aa_start": 534,
"aa_end": null,
"aa_length": 765,
"cds_start": 1600,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528057.5"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA4",
"gene_hgnc_id": 10433,
"hgvs_c": "c.1780G>A",
"hgvs_p": "p.Asp594Asn",
"transcript": "ENST00000969972.1",
"protein_id": "ENSP00000640031.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 825,
"cds_start": 1780,
"cds_end": null,
"cds_length": 2478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969972.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA4",
"gene_hgnc_id": 10433,
"hgvs_c": "c.1639G>A",
"hgvs_p": "p.Asp547Asn",
"transcript": "ENST00000891467.1",
"protein_id": "ENSP00000561526.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 778,
"cds_start": 1639,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891467.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA4",
"gene_hgnc_id": 10433,
"hgvs_c": "c.1606G>A",
"hgvs_p": "p.Asp536Asn",
"transcript": "ENST00000969971.1",
"protein_id": "ENSP00000640030.1",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 767,
"cds_start": 1606,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969971.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA4",
"gene_hgnc_id": 10433,
"hgvs_c": "c.1603G>A",
"hgvs_p": "p.Asp535Asn",
"transcript": "NM_001006944.2",
"protein_id": "NP_001006945.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 766,
"cds_start": 1603,
"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_001006944.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA4",
"gene_hgnc_id": 10433,
"hgvs_c": "c.1600G>A",
"hgvs_p": "p.Asp534Asn",
"transcript": "NM_001300802.2",
"protein_id": "NP_001287731.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 765,
"cds_start": 1600,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300802.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA4",
"gene_hgnc_id": 10433,
"hgvs_c": "c.1621G>A",
"hgvs_p": "p.Asp541Asn",
"transcript": "ENST00000891459.1",
"protein_id": "ENSP00000561518.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 765,
"cds_start": 1621,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891459.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA4",
"gene_hgnc_id": 10433,
"hgvs_c": "c.1588G>A",
"hgvs_p": "p.Asp530Asn",
"transcript": "ENST00000891468.1",
"protein_id": "ENSP00000561527.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 761,
"cds_start": 1588,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891468.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA4",
"gene_hgnc_id": 10433,
"hgvs_c": "c.1585G>A",
"hgvs_p": "p.Asp529Asn",
"transcript": "ENST00000891460.1",
"protein_id": "ENSP00000561519.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 760,
"cds_start": 1585,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891460.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA4",
"gene_hgnc_id": 10433,
"hgvs_c": "c.1603G>A",
"hgvs_p": "p.Asp535Asn",
"transcript": "ENST00000891462.1",
"protein_id": "ENSP00000561521.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 759,
"cds_start": 1603,
"cds_end": null,
"cds_length": 2280,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891462.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA4",
"gene_hgnc_id": 10433,
"hgvs_c": "c.1600G>A",
"hgvs_p": "p.Asp534Asn",
"transcript": "ENST00000891461.1",
"protein_id": "ENSP00000561520.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 758,
"cds_start": 1600,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891461.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA4",
"gene_hgnc_id": 10433,
"hgvs_c": "c.1549G>A",
"hgvs_p": "p.Asp517Asn",
"transcript": "ENST00000891465.1",
"protein_id": "ENSP00000561524.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 748,
"cds_start": 1549,
"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": "ENST00000891465.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA4",
"gene_hgnc_id": 10433,
"hgvs_c": "c.1528G>A",
"hgvs_p": "p.Asp510Asn",
"transcript": "ENST00000969973.1",
"protein_id": "ENSP00000640032.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 741,
"cds_start": 1528,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969973.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA4",
"gene_hgnc_id": 10433,
"hgvs_c": "c.1456G>A",
"hgvs_p": "p.Asp486Asn",
"transcript": "ENST00000891458.1",
"protein_id": "ENSP00000561517.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 717,
"cds_start": 1456,
"cds_end": null,
"cds_length": 2154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891458.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA4",
"gene_hgnc_id": 10433,
"hgvs_c": "c.1438G>A",
"hgvs_p": "p.Asp480Asn",
"transcript": "ENST00000891464.1",
"protein_id": "ENSP00000561523.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 711,
"cds_start": 1438,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891464.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA4",
"gene_hgnc_id": 10433,
"hgvs_c": "c.1435G>A",
"hgvs_p": "p.Asp479Asn",
"transcript": "ENST00000891463.1",
"protein_id": "ENSP00000561522.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 710,
"cds_start": 1435,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891463.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA4",
"gene_hgnc_id": 10433,
"hgvs_c": "c.1456G>A",
"hgvs_p": "p.Asp486Asn",
"transcript": "ENST00000891466.1",
"protein_id": "ENSP00000561525.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 710,
"cds_start": 1456,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891466.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA4",
"gene_hgnc_id": 10433,
"hgvs_c": "c.1432G>A",
"hgvs_p": "p.Asp478Asn",
"transcript": "NM_001318361.2",
"protein_id": "NP_001305290.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 709,
"cds_start": 1432,
"cds_end": null,
"cds_length": 2130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318361.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA4",
"gene_hgnc_id": 10433,
"hgvs_c": "c.1555G>A",
"hgvs_p": "p.Asp519Asn",
"transcript": "ENST00000530504.1",
"protein_id": "ENSP00000432945.1",
"transcript_support_level": 5,
"aa_start": 519,
"aa_end": null,
"aa_length": 703,
"cds_start": 1555,
"cds_end": null,
"cds_length": 2114,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530504.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA4",
"gene_hgnc_id": 10433,
"hgvs_c": "c.1402G>A",
"hgvs_p": "p.Asp468Asn",
"transcript": "ENST00000969974.1",
"protein_id": "ENSP00000640033.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 699,
"cds_start": 1402,
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"cds_length": 2100,
"cdna_start": null,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969974.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
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"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA4",
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"hgvs_c": "c.1456G>A",
"hgvs_p": "p.Asp486Asn",
"transcript": "XM_005274380.2",
"protein_id": "XP_005274437.1",
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"aa_start": 486,
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"biotype": "protein_coding",
"feature": "XM_005274380.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
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"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA4",
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"hgvs_c": "c.1438G>A",
"hgvs_p": "p.Asp480Asn",
"transcript": "XM_047427843.1",
"protein_id": "XP_047283799.1",
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"aa_start": 480,
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"aa_length": 711,
"cds_start": 1438,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"biotype": "protein_coding",
"feature": "XM_047427843.1"
},
{
"aa_ref": "D",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
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"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA4",
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"hgvs_c": "c.1435G>A",
"hgvs_p": "p.Asp479Asn",
"transcript": "XM_047427844.1",
"protein_id": "XP_047283800.1",
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"aa_start": 479,
"aa_end": null,
"aa_length": 710,
"cds_start": 1435,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427844.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
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"exon_count": 17,
"intron_rank": null,
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"gene_symbol": "RPS6KA4",
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"hgvs_c": "n.*1428G>A",
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"transcript": "ENST00000528355.5",
"protein_id": "ENSP00000435314.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
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"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000528355.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA4",
"gene_hgnc_id": 10433,
"hgvs_c": "n.*1428G>A",
"hgvs_p": null,
"transcript": "ENST00000528355.5",
"protein_id": "ENSP00000435314.1",
"transcript_support_level": 2,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000528355.5"
}
],
"gene_symbol": "RPS6KA4",
"gene_hgnc_id": 10433,
"dbsnp": "rs1339408476",
"frequency_reference_population": 6.864737e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.86474e-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": 0.2370922565460205,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.045,
"revel_prediction": "Benign",
"alphamissense_score": 0.0921,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.62,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.084,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_003942.3",
"gene_symbol": "RPS6KA4",
"hgnc_id": 10433,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1621G>A",
"hgvs_p": "p.Asp541Asn"
}
],
"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
}