← 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: 16-1964488-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=1964488&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 1964488,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_002952.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS2",
"gene_hgnc_id": 10404,
"hgvs_c": "c.138A>G",
"hgvs_p": "p.Arg46Arg",
"transcript": "NM_002952.4",
"protein_id": "NP_002943.2",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 293,
"cds_start": 138,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000343262.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002952.4"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS2",
"gene_hgnc_id": 10404,
"hgvs_c": "c.138A>G",
"hgvs_p": "p.Arg46Arg",
"transcript": "ENST00000343262.9",
"protein_id": "ENSP00000341885.4",
"transcript_support_level": 1,
"aa_start": 46,
"aa_end": null,
"aa_length": 293,
"cds_start": 138,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002952.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000343262.9"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS2",
"gene_hgnc_id": 10404,
"hgvs_c": "n.143A>G",
"hgvs_p": null,
"transcript": "ENST00000527109.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "retained_intron",
"feature": "ENST00000527109.5"
},
{
"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": "RPS2",
"gene_hgnc_id": 10404,
"hgvs_c": "n.318A>G",
"hgvs_p": null,
"transcript": "ENST00000527826.1",
"protein_id": null,
"transcript_support_level": 1,
"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": "retained_intron",
"feature": "ENST00000527826.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS2",
"gene_hgnc_id": 10404,
"hgvs_c": "n.144A>G",
"hgvs_p": null,
"transcript": "ENST00000527871.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "retained_intron",
"feature": "ENST00000527871.5"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS2",
"gene_hgnc_id": 10404,
"hgvs_c": "n.326A>G",
"hgvs_p": null,
"transcript": "ENST00000533161.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "retained_intron",
"feature": "ENST00000533161.5"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS2",
"gene_hgnc_id": 10404,
"hgvs_c": "c.138A>G",
"hgvs_p": "p.Arg46Arg",
"transcript": "ENST00000872227.1",
"protein_id": "ENSP00000542286.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 293,
"cds_start": 138,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872227.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS2",
"gene_hgnc_id": 10404,
"hgvs_c": "c.138A>G",
"hgvs_p": "p.Arg46Arg",
"transcript": "ENST00000872229.1",
"protein_id": "ENSP00000542288.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 293,
"cds_start": 138,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872229.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS2",
"gene_hgnc_id": 10404,
"hgvs_c": "c.138A>G",
"hgvs_p": "p.Arg46Arg",
"transcript": "ENST00000872233.1",
"protein_id": "ENSP00000542292.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 293,
"cds_start": 138,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872233.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS2",
"gene_hgnc_id": 10404,
"hgvs_c": "c.138A>G",
"hgvs_p": "p.Arg46Arg",
"transcript": "ENST00000872234.1",
"protein_id": "ENSP00000542293.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 293,
"cds_start": 138,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872234.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS2",
"gene_hgnc_id": 10404,
"hgvs_c": "c.138A>G",
"hgvs_p": "p.Arg46Arg",
"transcript": "ENST00000929923.1",
"protein_id": "ENSP00000599982.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 293,
"cds_start": 138,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929923.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS2",
"gene_hgnc_id": 10404,
"hgvs_c": "c.138A>G",
"hgvs_p": "p.Arg46Arg",
"transcript": "ENST00000929925.1",
"protein_id": "ENSP00000599984.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 293,
"cds_start": 138,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929925.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS2",
"gene_hgnc_id": 10404,
"hgvs_c": "c.138A>G",
"hgvs_p": "p.Arg46Arg",
"transcript": "ENST00000968780.1",
"protein_id": "ENSP00000638839.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 285,
"cds_start": 138,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968780.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS2",
"gene_hgnc_id": 10404,
"hgvs_c": "c.138A>G",
"hgvs_p": "p.Arg46Arg",
"transcript": "ENST00000929924.1",
"protein_id": "ENSP00000599983.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 276,
"cds_start": 138,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929924.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS2",
"gene_hgnc_id": 10404,
"hgvs_c": "c.138A>G",
"hgvs_p": "p.Arg46Arg",
"transcript": "ENST00000968781.1",
"protein_id": "ENSP00000638840.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 276,
"cds_start": 138,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968781.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS2",
"gene_hgnc_id": 10404,
"hgvs_c": "c.138A>G",
"hgvs_p": "p.Arg46Arg",
"transcript": "ENST00000968782.1",
"protein_id": "ENSP00000638841.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 274,
"cds_start": 138,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968782.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS2",
"gene_hgnc_id": 10404,
"hgvs_c": "c.138A>G",
"hgvs_p": "p.Arg46Arg",
"transcript": "ENST00000872228.1",
"protein_id": "ENSP00000542287.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 263,
"cds_start": 138,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872228.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS2",
"gene_hgnc_id": 10404,
"hgvs_c": "c.138A>G",
"hgvs_p": "p.Arg46Arg",
"transcript": "ENST00000872232.1",
"protein_id": "ENSP00000542291.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 263,
"cds_start": 138,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872232.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS2",
"gene_hgnc_id": 10404,
"hgvs_c": "c.138A>G",
"hgvs_p": "p.Arg46Arg",
"transcript": "ENST00000526522.5",
"protein_id": "ENSP00000436865.1",
"transcript_support_level": 2,
"aa_start": 46,
"aa_end": null,
"aa_length": 235,
"cds_start": 138,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526522.5"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS2",
"gene_hgnc_id": 10404,
"hgvs_c": "c.138A>G",
"hgvs_p": "p.Arg46Arg",
"transcript": "ENST00000872231.1",
"protein_id": "ENSP00000542290.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 235,
"cds_start": 138,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872231.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS2",
"gene_hgnc_id": 10404,
"hgvs_c": "c.138A>G",
"hgvs_p": "p.Arg46Arg",
"transcript": "ENST00000929926.1",
"protein_id": "ENSP00000599985.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 227,
"cds_start": 138,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929926.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS2",
"gene_hgnc_id": 10404,
"hgvs_c": "c.138A>G",
"hgvs_p": "p.Arg46Arg",
"transcript": "ENST00000527302.1",
"protein_id": "ENSP00000433034.1",
"transcript_support_level": 3,
"aa_start": 46,
"aa_end": null,
"aa_length": 217,
"cds_start": 138,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000527302.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS2",
"gene_hgnc_id": 10404,
"hgvs_c": "c.138A>G",
"hgvs_p": "p.Arg46Arg",
"transcript": "ENST00000872230.1",
"protein_id": "ENSP00000542289.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 216,
"cds_start": 138,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872230.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS2",
"gene_hgnc_id": 10404,
"hgvs_c": "c.138A>G",
"hgvs_p": "p.Arg46Arg",
"transcript": "ENST00000529806.5",
"protein_id": "ENSP00000433170.1",
"transcript_support_level": 3,
"aa_start": 46,
"aa_end": null,
"aa_length": 209,
"cds_start": 138,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529806.5"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS2",
"gene_hgnc_id": 10404,
"hgvs_c": "c.138A>G",
"hgvs_p": "p.Arg46Arg",
"transcript": "ENST00000530225.5",
"protein_id": "ENSP00000436356.1",
"transcript_support_level": 2,
"aa_start": 46,
"aa_end": null,
"aa_length": 197,
"cds_start": 138,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530225.5"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "RPS2",
"gene_hgnc_id": 10404,
"hgvs_c": "c.-3-123A>G",
"hgvs_p": null,
"transcript": "ENST00000563194.1",
"protein_id": "ENSP00000454837.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 43,
"cds_start": null,
"cds_end": null,
"cds_length": 132,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000563194.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS2",
"gene_hgnc_id": 10404,
"hgvs_c": "n.51A>G",
"hgvs_p": null,
"transcript": "ENST00000526908.1",
"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": "retained_intron",
"feature": "ENST00000526908.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS2",
"gene_hgnc_id": 10404,
"hgvs_c": "n.144A>G",
"hgvs_p": null,
"transcript": "ENST00000531065.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "retained_intron",
"feature": "ENST00000531065.5"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS2",
"gene_hgnc_id": 10404,
"hgvs_c": "n.94A>G",
"hgvs_p": null,
"transcript": "ENST00000533872.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "retained_intron",
"feature": "ENST00000533872.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNHG9",
"gene_hgnc_id": 33102,
"hgvs_c": "n.-38T>C",
"hgvs_p": null,
"transcript": "ENST00000531523.4",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000531523.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS2",
"gene_hgnc_id": 10404,
"hgvs_c": "c.-132A>G",
"hgvs_p": null,
"transcript": "ENST00000533186.5",
"protein_id": "ENSP00000436227.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 195,
"cds_start": null,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533186.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS2",
"gene_hgnc_id": 10404,
"hgvs_c": "n.-123A>G",
"hgvs_p": null,
"transcript": "ENST00000532746.5",
"protein_id": "ENSP00000434846.1",
"transcript_support_level": 3,
"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": "ENST00000532746.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS2",
"gene_hgnc_id": 10404,
"hgvs_c": "n.-123A>G",
"hgvs_p": null,
"transcript": "ENST00000534461.5",
"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": "retained_intron",
"feature": "ENST00000534461.5"
}
],
"gene_symbol": "RPS2",
"gene_hgnc_id": 10404,
"dbsnp": "rs78924165",
"frequency_reference_population": 0.0039905235,
"hom_count_reference_population": 251,
"allele_count_reference_population": 6414,
"gnomad_exomes_af": 0.00215998,
"gnomad_genomes_af": 0.0214912,
"gnomad_exomes_ac": 3143,
"gnomad_genomes_ac": 3271,
"gnomad_exomes_homalt": 114,
"gnomad_genomes_homalt": 137,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6200000047683716,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.62,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.56,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_002952.4",
"gene_symbol": "RPS2",
"hgnc_id": 10404,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.138A>G",
"hgvs_p": "p.Arg46Arg"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000531523.4",
"gene_symbol": "SNHG9",
"hgnc_id": 33102,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-38T>C",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}