← 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: 9-19376576-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=19376576&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 19376576,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001010.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6",
"gene_hgnc_id": 10429,
"hgvs_c": "c.572G>A",
"hgvs_p": "p.Arg191His",
"transcript": "NM_001010.3",
"protein_id": "NP_001001.2",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 249,
"cds_start": 572,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000380394.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001010.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6",
"gene_hgnc_id": 10429,
"hgvs_c": "c.572G>A",
"hgvs_p": "p.Arg191His",
"transcript": "ENST00000380394.9",
"protein_id": "ENSP00000369757.4",
"transcript_support_level": 1,
"aa_start": 191,
"aa_end": null,
"aa_length": 249,
"cds_start": 572,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001010.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380394.9"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6",
"gene_hgnc_id": 10429,
"hgvs_c": "c.479G>A",
"hgvs_p": "p.Arg160His",
"transcript": "ENST00000380384.5",
"protein_id": "ENSP00000369745.1",
"transcript_support_level": 1,
"aa_start": 160,
"aa_end": null,
"aa_length": 218,
"cds_start": 479,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380384.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6",
"gene_hgnc_id": 10429,
"hgvs_c": "c.596G>A",
"hgvs_p": "p.Arg199His",
"transcript": "ENST00000889073.1",
"protein_id": "ENSP00000559132.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 257,
"cds_start": 596,
"cds_end": null,
"cds_length": 774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889073.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6",
"gene_hgnc_id": 10429,
"hgvs_c": "c.596G>A",
"hgvs_p": "p.Arg199His",
"transcript": "ENST00000919423.1",
"protein_id": "ENSP00000589482.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 256,
"cds_start": 596,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919423.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6",
"gene_hgnc_id": 10429,
"hgvs_c": "c.593G>A",
"hgvs_p": "p.Arg198His",
"transcript": "ENST00000948755.1",
"protein_id": "ENSP00000618814.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 255,
"cds_start": 593,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948755.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6",
"gene_hgnc_id": 10429,
"hgvs_c": "c.575G>A",
"hgvs_p": "p.Arg192His",
"transcript": "ENST00000948752.1",
"protein_id": "ENSP00000618811.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 250,
"cds_start": 575,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948752.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6",
"gene_hgnc_id": 10429,
"hgvs_c": "c.569G>A",
"hgvs_p": "p.Arg190His",
"transcript": "ENST00000889074.1",
"protein_id": "ENSP00000559133.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 248,
"cds_start": 569,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889074.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6",
"gene_hgnc_id": 10429,
"hgvs_c": "c.572G>A",
"hgvs_p": "p.Arg191His",
"transcript": "ENST00000948753.1",
"protein_id": "ENSP00000618812.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 246,
"cds_start": 572,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948753.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6",
"gene_hgnc_id": 10429,
"hgvs_c": "c.569G>A",
"hgvs_p": "p.Arg190His",
"transcript": "ENST00000948751.1",
"protein_id": "ENSP00000618810.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 245,
"cds_start": 569,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948751.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6",
"gene_hgnc_id": 10429,
"hgvs_c": "c.551G>A",
"hgvs_p": "p.Arg184His",
"transcript": "ENST00000919422.1",
"protein_id": "ENSP00000589481.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 242,
"cds_start": 551,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919422.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6",
"gene_hgnc_id": 10429,
"hgvs_c": "c.518G>A",
"hgvs_p": "p.Arg173His",
"transcript": "ENST00000889075.1",
"protein_id": "ENSP00000559134.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 231,
"cds_start": 518,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889075.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6",
"gene_hgnc_id": 10429,
"hgvs_c": "c.515G>A",
"hgvs_p": "p.Arg172His",
"transcript": "ENST00000889072.1",
"protein_id": "ENSP00000559131.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 230,
"cds_start": 515,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889072.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6",
"gene_hgnc_id": 10429,
"hgvs_c": "c.509G>A",
"hgvs_p": "p.Arg170His",
"transcript": "ENST00000919427.1",
"protein_id": "ENSP00000589486.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 228,
"cds_start": 509,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919427.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6",
"gene_hgnc_id": 10429,
"hgvs_c": "c.485G>A",
"hgvs_p": "p.Arg162His",
"transcript": "ENST00000948750.1",
"protein_id": "ENSP00000618809.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 220,
"cds_start": 485,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948750.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6",
"gene_hgnc_id": 10429,
"hgvs_c": "c.482G>A",
"hgvs_p": "p.Arg161His",
"transcript": "ENST00000919421.1",
"protein_id": "ENSP00000589480.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 219,
"cds_start": 482,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919421.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6",
"gene_hgnc_id": 10429,
"hgvs_c": "c.479G>A",
"hgvs_p": "p.Arg160His",
"transcript": "ENST00000315377.4",
"protein_id": "ENSP00000369743.1",
"transcript_support_level": 3,
"aa_start": 160,
"aa_end": null,
"aa_length": 218,
"cds_start": 479,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000315377.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6",
"gene_hgnc_id": 10429,
"hgvs_c": "c.470G>A",
"hgvs_p": "p.Arg157His",
"transcript": "ENST00000919425.1",
"protein_id": "ENSP00000589484.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 215,
"cds_start": 470,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919425.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6",
"gene_hgnc_id": 10429,
"hgvs_c": "c.455G>A",
"hgvs_p": "p.Arg152His",
"transcript": "ENST00000919424.1",
"protein_id": "ENSP00000589483.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 210,
"cds_start": 455,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919424.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6",
"gene_hgnc_id": 10429,
"hgvs_c": "c.440G>A",
"hgvs_p": "p.Arg147His",
"transcript": "ENST00000889076.1",
"protein_id": "ENSP00000559135.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 205,
"cds_start": 440,
"cds_end": null,
"cds_length": 618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889076.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6",
"gene_hgnc_id": 10429,
"hgvs_c": "c.437G>A",
"hgvs_p": "p.Arg146His",
"transcript": "ENST00000919420.1",
"protein_id": "ENSP00000589479.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 204,
"cds_start": 437,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919420.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6",
"gene_hgnc_id": 10429,
"hgvs_c": "c.425G>A",
"hgvs_p": "p.Arg142His",
"transcript": "ENST00000889077.1",
"protein_id": "ENSP00000559136.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 200,
"cds_start": 425,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889077.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6",
"gene_hgnc_id": 10429,
"hgvs_c": "c.353G>A",
"hgvs_p": "p.Arg118His",
"transcript": "ENST00000919419.1",
"protein_id": "ENSP00000589478.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 176,
"cds_start": 353,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919419.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6",
"gene_hgnc_id": 10429,
"hgvs_c": "c.152G>A",
"hgvs_p": "p.Arg51His",
"transcript": "ENST00000919426.1",
"protein_id": "ENSP00000589485.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 109,
"cds_start": 152,
"cds_end": null,
"cds_length": 330,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919426.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6",
"gene_hgnc_id": 10429,
"hgvs_c": "c.20G>A",
"hgvs_p": "p.Arg7His",
"transcript": "ENST00000919428.1",
"protein_id": "ENSP00000589487.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 65,
"cds_start": 20,
"cds_end": null,
"cds_length": 198,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919428.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RPS6",
"gene_hgnc_id": 10429,
"hgvs_c": "c.139-188G>A",
"hgvs_p": null,
"transcript": "ENST00000948754.1",
"protein_id": "ENSP00000618813.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 77,
"cds_start": null,
"cds_end": null,
"cds_length": 234,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948754.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6",
"gene_hgnc_id": 10429,
"hgvs_c": "n.264G>A",
"hgvs_p": null,
"transcript": "ENST00000498815.1",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000498815.1"
}
],
"gene_symbol": "RPS6",
"gene_hgnc_id": 10429,
"dbsnp": "rs779944596",
"frequency_reference_population": 0.000008674102,
"hom_count_reference_population": 0,
"allele_count_reference_population": 14,
"gnomad_exomes_af": 0.00000889266,
"gnomad_genomes_af": 0.00000657376,
"gnomad_exomes_ac": 13,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6313784122467041,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.245,
"revel_prediction": "Benign",
"alphamissense_score": 0.5871,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.15,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.601,
"phylop100way_prediction": "Pathogenic",
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001010.3",
"gene_symbol": "RPS6",
"hgnc_id": 10429,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.572G>A",
"hgvs_p": "p.Arg191His"
}
],
"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
}