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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: 19-58394524-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=58394524&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 58394524,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001009.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS5",
"gene_hgnc_id": 10426,
"hgvs_c": "c.475C>A",
"hgvs_p": "p.Arg159Ser",
"transcript": "NM_001009.4",
"protein_id": "NP_001000.2",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 204,
"cds_start": 475,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000196551.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001009.4"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS5",
"gene_hgnc_id": 10426,
"hgvs_c": "c.475C>A",
"hgvs_p": "p.Arg159Ser",
"transcript": "ENST00000196551.8",
"protein_id": "ENSP00000196551.3",
"transcript_support_level": 1,
"aa_start": 159,
"aa_end": null,
"aa_length": 204,
"cds_start": 475,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001009.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000196551.8"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS5",
"gene_hgnc_id": 10426,
"hgvs_c": "c.475C>A",
"hgvs_p": "p.Arg159Ser",
"transcript": "ENST00000596046.1",
"protein_id": "ENSP00000472985.1",
"transcript_support_level": 1,
"aa_start": 159,
"aa_end": null,
"aa_length": 204,
"cds_start": 475,
"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": "ENST00000596046.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS5",
"gene_hgnc_id": 10426,
"hgvs_c": "c.538C>A",
"hgvs_p": "p.Arg180Ser",
"transcript": "ENST00000598495.5",
"protein_id": "ENSP00000471388.1",
"transcript_support_level": 3,
"aa_start": 180,
"aa_end": null,
"aa_length": 225,
"cds_start": 538,
"cds_end": null,
"cds_length": 678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000598495.5"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS5",
"gene_hgnc_id": 10426,
"hgvs_c": "c.475C>A",
"hgvs_p": "p.Arg159Ser",
"transcript": "ENST00000851170.1",
"protein_id": "ENSP00000521229.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 213,
"cds_start": 475,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851170.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS5",
"gene_hgnc_id": 10426,
"hgvs_c": "c.475C>A",
"hgvs_p": "p.Arg159Ser",
"transcript": "ENST00000601521.5",
"protein_id": "ENSP00000470114.1",
"transcript_support_level": 5,
"aa_start": 159,
"aa_end": null,
"aa_length": 204,
"cds_start": 475,
"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": "ENST00000601521.5"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS5",
"gene_hgnc_id": 10426,
"hgvs_c": "c.475C>A",
"hgvs_p": "p.Arg159Ser",
"transcript": "ENST00000851167.1",
"protein_id": "ENSP00000521226.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 204,
"cds_start": 475,
"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": "ENST00000851167.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS5",
"gene_hgnc_id": 10426,
"hgvs_c": "c.475C>A",
"hgvs_p": "p.Arg159Ser",
"transcript": "ENST00000851168.1",
"protein_id": "ENSP00000521227.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 204,
"cds_start": 475,
"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": "ENST00000851168.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS5",
"gene_hgnc_id": 10426,
"hgvs_c": "c.475C>A",
"hgvs_p": "p.Arg159Ser",
"transcript": "ENST00000851169.1",
"protein_id": "ENSP00000521228.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 204,
"cds_start": 475,
"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": "ENST00000851169.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS5",
"gene_hgnc_id": 10426,
"hgvs_c": "c.475C>A",
"hgvs_p": "p.Arg159Ser",
"transcript": "ENST00000851174.1",
"protein_id": "ENSP00000521233.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 204,
"cds_start": 475,
"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": "ENST00000851174.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS5",
"gene_hgnc_id": 10426,
"hgvs_c": "c.475C>A",
"hgvs_p": "p.Arg159Ser",
"transcript": "ENST00000912985.1",
"protein_id": "ENSP00000583044.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 204,
"cds_start": 475,
"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": "ENST00000912985.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS5",
"gene_hgnc_id": 10426,
"hgvs_c": "c.475C>A",
"hgvs_p": "p.Arg159Ser",
"transcript": "ENST00000912986.1",
"protein_id": "ENSP00000583045.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 204,
"cds_start": 475,
"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": "ENST00000912986.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS5",
"gene_hgnc_id": 10426,
"hgvs_c": "c.475C>A",
"hgvs_p": "p.Arg159Ser",
"transcript": "ENST00000912988.1",
"protein_id": "ENSP00000583047.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 204,
"cds_start": 475,
"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": "ENST00000912988.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS5",
"gene_hgnc_id": 10426,
"hgvs_c": "c.475C>A",
"hgvs_p": "p.Arg159Ser",
"transcript": "ENST00000951621.1",
"protein_id": "ENSP00000621680.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 204,
"cds_start": 475,
"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": "ENST00000951621.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS5",
"gene_hgnc_id": 10426,
"hgvs_c": "c.463C>A",
"hgvs_p": "p.Arg155Ser",
"transcript": "ENST00000851172.1",
"protein_id": "ENSP00000521231.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 200,
"cds_start": 463,
"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": "ENST00000851172.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS5",
"gene_hgnc_id": 10426,
"hgvs_c": "c.475C>A",
"hgvs_p": "p.Arg159Ser",
"transcript": "ENST00000596314.5",
"protein_id": "ENSP00000471185.1",
"transcript_support_level": 5,
"aa_start": 159,
"aa_end": null,
"aa_length": 199,
"cds_start": 475,
"cds_end": null,
"cds_length": 601,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000596314.5"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS5",
"gene_hgnc_id": 10426,
"hgvs_c": "c.475C>A",
"hgvs_p": "p.Arg159Ser",
"transcript": "ENST00000851171.1",
"protein_id": "ENSP00000521230.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 195,
"cds_start": 475,
"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": "ENST00000851171.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS5",
"gene_hgnc_id": 10426,
"hgvs_c": "c.475C>A",
"hgvs_p": "p.Arg159Ser",
"transcript": "ENST00000912987.1",
"protein_id": "ENSP00000583046.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 194,
"cds_start": 475,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912987.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS5",
"gene_hgnc_id": 10426,
"hgvs_c": "c.424C>A",
"hgvs_p": "p.Arg142Ser",
"transcript": "ENST00000912991.1",
"protein_id": "ENSP00000583050.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 187,
"cds_start": 424,
"cds_end": null,
"cds_length": 564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912991.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS5",
"gene_hgnc_id": 10426,
"hgvs_c": "c.475C>A",
"hgvs_p": "p.Arg159Ser",
"transcript": "ENST00000912990.1",
"protein_id": "ENSP00000583049.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 185,
"cds_start": 475,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912990.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS5",
"gene_hgnc_id": 10426,
"hgvs_c": "c.346C>A",
"hgvs_p": "p.Arg116Ser",
"transcript": "ENST00000912989.1",
"protein_id": "ENSP00000583048.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 161,
"cds_start": 346,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912989.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS5",
"gene_hgnc_id": 10426,
"hgvs_c": "c.328C>A",
"hgvs_p": "p.Arg110Ser",
"transcript": "ENST00000912993.1",
"protein_id": "ENSP00000583052.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 155,
"cds_start": 328,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912993.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "RPS5",
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"hgvs_c": "c.265C>A",
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"biotype": "protein_coding",
"feature": "ENST00000598098.5"
},
{
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"strand": true,
"consequences": [
"missense_variant"
],
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"gene_symbol": "RPS5",
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"feature": "ENST00000951622.1"
},
{
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"strand": true,
"consequences": [
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],
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"gene_symbol": "RPS5",
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"hgvs_c": "c.253C>A",
"hgvs_p": "p.Arg85Ser",
"transcript": "ENST00000912992.1",
"protein_id": "ENSP00000583051.1",
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"cds_length": 393,
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"biotype": "protein_coding",
"feature": "ENST00000912992.1"
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
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"exon_count": 4,
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"gene_symbol": "RPS5",
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"hgvs_c": "c.136C>A",
"hgvs_p": "p.Arg46Ser",
"transcript": "ENST00000851173.1",
"protein_id": "ENSP00000521232.1",
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"biotype": "protein_coding",
"feature": "ENST00000851173.1"
},
{
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"strand": true,
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"missense_variant"
],
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"gene_symbol": "RPS5",
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"hgvs_c": "c.136C>A",
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"biotype": "protein_coding",
"feature": "ENST00000912994.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
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"exon_count": 4,
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"gene_symbol": "RPS5",
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"hgvs_p": "p.Arg46Ser",
"transcript": "ENST00000912995.1",
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"biotype": "protein_coding",
"feature": "ENST00000912995.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
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"exon_count": 1,
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"gene_symbol": "RPS5",
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"hgvs_c": "n.1469C>A",
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"transcript": "ENST00000599232.1",
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"transcript_support_level": 6,
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"aa_length": null,
"cds_start": null,
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"cdna_start": null,
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"biotype": "retained_intron",
"feature": "ENST00000599232.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
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"gene_symbol": "ENSG00000294800",
"gene_hgnc_id": null,
"hgvs_c": "n.689G>T",
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"transcript": "ENST00000726052.1",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000726052.1"
}
],
"gene_symbol": "RPS5",
"gene_hgnc_id": 10426,
"dbsnp": "rs745755584",
"frequency_reference_population": 0.0000061960095,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000615668,
"gnomad_genomes_af": 0.00000657402,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8509255647659302,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.442,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9991,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.32,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 2.31,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3_Moderate,BS2",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PP3_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001009.4",
"gene_symbol": "RPS5",
"hgnc_id": 10426,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.475C>A",
"hgvs_p": "p.Arg159Ser"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000726052.1",
"gene_symbol": "ENSG00000294800",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.689G>T",
"hgvs_p": null
}
],
"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
}