← 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: 22-39313286-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=39313286&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 39313286,
"ref": "G",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_000967.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3",
"gene_hgnc_id": 10332,
"hgvs_c": "c.1072C>A",
"hgvs_p": "p.Arg358Arg",
"transcript": "NM_000967.4",
"protein_id": "NP_000958.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 403,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000216146.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000967.4"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3",
"gene_hgnc_id": 10332,
"hgvs_c": "c.1072C>A",
"hgvs_p": "p.Arg358Arg",
"transcript": "ENST00000216146.9",
"protein_id": "ENSP00000346001.3",
"transcript_support_level": 1,
"aa_start": 358,
"aa_end": null,
"aa_length": 403,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000967.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000216146.9"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3",
"gene_hgnc_id": 10332,
"hgvs_c": "c.916C>A",
"hgvs_p": "p.Arg306Arg",
"transcript": "ENST00000401609.5",
"protein_id": "ENSP00000386101.1",
"transcript_support_level": 1,
"aa_start": 306,
"aa_end": null,
"aa_length": 351,
"cds_start": 916,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000401609.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3",
"gene_hgnc_id": 10332,
"hgvs_c": "n.1912C>A",
"hgvs_p": null,
"transcript": "ENST00000465618.5",
"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": "pseudogene",
"feature": "ENST00000465618.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3",
"gene_hgnc_id": 10332,
"hgvs_c": "n.1203C>A",
"hgvs_p": null,
"transcript": "ENST00000467105.1",
"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": "ENST00000467105.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3",
"gene_hgnc_id": 10332,
"hgvs_c": "c.1150C>A",
"hgvs_p": "p.Arg384Arg",
"transcript": "ENST00000926233.1",
"protein_id": "ENSP00000596292.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 429,
"cds_start": 1150,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926233.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3",
"gene_hgnc_id": 10332,
"hgvs_c": "c.1093C>A",
"hgvs_p": "p.Arg365Arg",
"transcript": "ENST00000926234.1",
"protein_id": "ENSP00000596293.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 410,
"cds_start": 1093,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926234.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3",
"gene_hgnc_id": 10332,
"hgvs_c": "c.1081C>A",
"hgvs_p": "p.Arg361Arg",
"transcript": "ENST00000871470.1",
"protein_id": "ENSP00000541529.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 406,
"cds_start": 1081,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871470.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3",
"gene_hgnc_id": 10332,
"hgvs_c": "c.1066C>A",
"hgvs_p": "p.Arg356Arg",
"transcript": "ENST00000971220.1",
"protein_id": "ENSP00000641279.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 401,
"cds_start": 1066,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971220.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3",
"gene_hgnc_id": 10332,
"hgvs_c": "c.1063C>A",
"hgvs_p": "p.Arg355Arg",
"transcript": "ENST00000871474.1",
"protein_id": "ENSP00000541533.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 400,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871474.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3",
"gene_hgnc_id": 10332,
"hgvs_c": "c.1072C>A",
"hgvs_p": "p.Arg358Arg",
"transcript": "ENST00000871477.1",
"protein_id": "ENSP00000541536.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 399,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871477.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3",
"gene_hgnc_id": 10332,
"hgvs_c": "c.1057C>A",
"hgvs_p": "p.Arg353Arg",
"transcript": "ENST00000871476.1",
"protein_id": "ENSP00000541535.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 398,
"cds_start": 1057,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871476.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3",
"gene_hgnc_id": 10332,
"hgvs_c": "c.1054C>A",
"hgvs_p": "p.Arg352Arg",
"transcript": "ENST00000926227.1",
"protein_id": "ENSP00000596286.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 397,
"cds_start": 1054,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926227.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3",
"gene_hgnc_id": 10332,
"hgvs_c": "c.1048C>A",
"hgvs_p": "p.Arg350Arg",
"transcript": "ENST00000871471.1",
"protein_id": "ENSP00000541530.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 395,
"cds_start": 1048,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871471.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3",
"gene_hgnc_id": 10332,
"hgvs_c": "c.1045C>A",
"hgvs_p": "p.Arg349Arg",
"transcript": "ENST00000871469.1",
"protein_id": "ENSP00000541528.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 394,
"cds_start": 1045,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871469.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3",
"gene_hgnc_id": 10332,
"hgvs_c": "c.1030C>A",
"hgvs_p": "p.Arg344Arg",
"transcript": "ENST00000926230.1",
"protein_id": "ENSP00000596289.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 389,
"cds_start": 1030,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926230.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3",
"gene_hgnc_id": 10332,
"hgvs_c": "c.1027C>A",
"hgvs_p": "p.Arg343Arg",
"transcript": "ENST00000871473.1",
"protein_id": "ENSP00000541532.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 388,
"cds_start": 1027,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871473.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3",
"gene_hgnc_id": 10332,
"hgvs_c": "c.976C>A",
"hgvs_p": "p.Arg326Arg",
"transcript": "ENST00000871468.1",
"protein_id": "ENSP00000541527.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 371,
"cds_start": 976,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871468.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3",
"gene_hgnc_id": 10332,
"hgvs_c": "c.970C>A",
"hgvs_p": "p.Arg324Arg",
"transcript": "ENST00000871472.1",
"protein_id": "ENSP00000541531.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 369,
"cds_start": 970,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871472.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3",
"gene_hgnc_id": 10332,
"hgvs_c": "c.934C>A",
"hgvs_p": "p.Arg312Arg",
"transcript": "ENST00000926229.1",
"protein_id": "ENSP00000596288.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 357,
"cds_start": 934,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926229.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3",
"gene_hgnc_id": 10332,
"hgvs_c": "c.925C>A",
"hgvs_p": "p.Arg309Arg",
"transcript": "NM_001033853.2",
"protein_id": "NP_001029025.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 354,
"cds_start": 925,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001033853.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3",
"gene_hgnc_id": 10332,
"hgvs_c": "c.913C>A",
"hgvs_p": "p.Arg305Arg",
"transcript": "ENST00000871475.1",
"protein_id": "ENSP00000541534.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 350,
"cds_start": 913,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871475.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3",
"gene_hgnc_id": 10332,
"hgvs_c": "c.820C>A",
"hgvs_p": "p.Arg274Arg",
"transcript": "ENST00000926235.1",
"protein_id": "ENSP00000596294.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 319,
"cds_start": 820,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926235.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3",
"gene_hgnc_id": 10332,
"hgvs_c": "c.622C>A",
"hgvs_p": "p.Arg208Arg",
"transcript": "ENST00000926236.1",
"protein_id": "ENSP00000596295.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 253,
"cds_start": 622,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926236.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3",
"gene_hgnc_id": 10332,
"hgvs_c": "c.511C>A",
"hgvs_p": "p.Arg171Arg",
"transcript": "ENST00000926231.1",
"protein_id": "ENSP00000596290.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 216,
"cds_start": 511,
"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": "ENST00000926231.1"
},
{
"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": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RPL3",
"gene_hgnc_id": 10332,
"hgvs_c": "c.850-15C>A",
"hgvs_p": null,
"transcript": "ENST00000926232.1",
"protein_id": "ENSP00000596291.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 324,
"cds_start": null,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926232.1"
},
{
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RPL3",
"gene_hgnc_id": 10332,
"hgvs_c": "c.850-314C>A",
"hgvs_p": null,
"transcript": "ENST00000926228.1",
"protein_id": "ENSP00000596287.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 293,
"cds_start": null,
"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": "ENST00000926228.1"
},
{
"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": "RPL3",
"gene_hgnc_id": 10332,
"hgvs_c": "n.420C>A",
"hgvs_p": null,
"transcript": "ENST00000464182.5",
"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": "ENST00000464182.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL3",
"gene_hgnc_id": 10332,
"hgvs_c": "n.121C>A",
"hgvs_p": null,
"transcript": "ENST00000473638.5",
"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": "ENST00000473638.5"
}
],
"gene_symbol": "RPL3",
"gene_hgnc_id": 10332,
"dbsnp": "rs760707879",
"frequency_reference_population": 6.8430813e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84308e-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": -0.23999999463558197,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.24,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.635,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 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_000967.4",
"gene_symbol": "RPL3",
"hgnc_id": 10332,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1072C>A",
"hgvs_p": "p.Arg358Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}