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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: 1-235131741-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=235131741&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 235131741,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_015014.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM34",
"gene_hgnc_id": 28965,
"hgvs_c": "c.1265G>A",
"hgvs_p": "p.Arg422His",
"transcript": "NM_015014.4",
"protein_id": "NP_055829.2",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 430,
"cds_start": 1265,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000408888.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015014.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM34",
"gene_hgnc_id": 28965,
"hgvs_c": "c.1265G>A",
"hgvs_p": "p.Arg422His",
"transcript": "ENST00000408888.8",
"protein_id": "ENSP00000386226.3",
"transcript_support_level": 1,
"aa_start": 422,
"aa_end": null,
"aa_length": 430,
"cds_start": 1265,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015014.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000408888.8"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM34",
"gene_hgnc_id": 28965,
"hgvs_c": "c.1262G>A",
"hgvs_p": "p.Arg421His",
"transcript": "NM_001346738.2",
"protein_id": "NP_001333667.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 429,
"cds_start": 1262,
"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": "NM_001346738.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM34",
"gene_hgnc_id": 28965,
"hgvs_c": "c.1262G>A",
"hgvs_p": "p.Arg421His",
"transcript": "ENST00000888456.1",
"protein_id": "ENSP00000558515.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 429,
"cds_start": 1262,
"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": "ENST00000888456.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM34",
"gene_hgnc_id": 28965,
"hgvs_c": "c.1262G>A",
"hgvs_p": "p.Arg421His",
"transcript": "ENST00000917370.1",
"protein_id": "ENSP00000587429.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 429,
"cds_start": 1262,
"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": "ENST00000917370.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM34",
"gene_hgnc_id": 28965,
"hgvs_c": "c.1259G>A",
"hgvs_p": "p.Arg420His",
"transcript": "ENST00000917372.1",
"protein_id": "ENSP00000587431.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 428,
"cds_start": 1259,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917372.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM34",
"gene_hgnc_id": 28965,
"hgvs_c": "c.1256G>A",
"hgvs_p": "p.Arg419His",
"transcript": "ENST00000917374.1",
"protein_id": "ENSP00000587433.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 427,
"cds_start": 1256,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917374.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM34",
"gene_hgnc_id": 28965,
"hgvs_c": "c.1247G>A",
"hgvs_p": "p.Arg416His",
"transcript": "ENST00000966607.1",
"protein_id": "ENSP00000636666.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 424,
"cds_start": 1247,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966607.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM34",
"gene_hgnc_id": 28965,
"hgvs_c": "c.1202G>A",
"hgvs_p": "p.Arg401His",
"transcript": "ENST00000966609.1",
"protein_id": "ENSP00000636668.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 409,
"cds_start": 1202,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966609.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM34",
"gene_hgnc_id": 28965,
"hgvs_c": "c.1199G>A",
"hgvs_p": "p.Arg400His",
"transcript": "ENST00000447801.5",
"protein_id": "ENSP00000400000.1",
"transcript_support_level": 5,
"aa_start": 400,
"aa_end": null,
"aa_length": 408,
"cds_start": 1199,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447801.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM34",
"gene_hgnc_id": 28965,
"hgvs_c": "c.1169G>A",
"hgvs_p": "p.Arg390His",
"transcript": "ENST00000966611.1",
"protein_id": "ENSP00000636670.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 398,
"cds_start": 1169,
"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": "ENST00000966611.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM34",
"gene_hgnc_id": 28965,
"hgvs_c": "c.1109G>A",
"hgvs_p": "p.Arg370His",
"transcript": "ENST00000888458.1",
"protein_id": "ENSP00000558517.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 378,
"cds_start": 1109,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888458.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM34",
"gene_hgnc_id": 28965,
"hgvs_c": "c.1106G>A",
"hgvs_p": "p.Arg369His",
"transcript": "ENST00000917371.1",
"protein_id": "ENSP00000587430.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 377,
"cds_start": 1106,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917371.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM34",
"gene_hgnc_id": 28965,
"hgvs_c": "c.896G>A",
"hgvs_p": "p.Arg299His",
"transcript": "ENST00000888457.1",
"protein_id": "ENSP00000558516.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 307,
"cds_start": 896,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888457.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM34",
"gene_hgnc_id": 28965,
"hgvs_c": "c.893G>A",
"hgvs_p": "p.Arg298His",
"transcript": "ENST00000917373.1",
"protein_id": "ENSP00000587432.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 306,
"cds_start": 893,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917373.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM34",
"gene_hgnc_id": 28965,
"hgvs_c": "c.854G>A",
"hgvs_p": "p.Arg285His",
"transcript": "ENST00000966608.1",
"protein_id": "ENSP00000636667.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 293,
"cds_start": 854,
"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": "ENST00000966608.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM34",
"gene_hgnc_id": 28965,
"hgvs_c": "c.836G>A",
"hgvs_p": "p.Arg279His",
"transcript": "ENST00000966610.1",
"protein_id": "ENSP00000636669.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 287,
"cds_start": 836,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966610.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM34",
"gene_hgnc_id": 28965,
"hgvs_c": "c.485G>A",
"hgvs_p": "p.Arg162His",
"transcript": "ENST00000888459.1",
"protein_id": "ENSP00000558518.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 170,
"cds_start": 485,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888459.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM34",
"gene_hgnc_id": 28965,
"hgvs_c": "c.1205G>A",
"hgvs_p": "p.Arg402His",
"transcript": "XM_011544133.3",
"protein_id": "XP_011542435.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 410,
"cds_start": 1205,
"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": "XM_011544133.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM34",
"gene_hgnc_id": 28965,
"hgvs_c": "c.1202G>A",
"hgvs_p": "p.Arg401His",
"transcript": "XM_047449700.1",
"protein_id": "XP_047305656.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 409,
"cds_start": 1202,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449700.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM34",
"gene_hgnc_id": 28965,
"hgvs_c": "c.971G>A",
"hgvs_p": "p.Arg324His",
"transcript": "XM_047449705.1",
"protein_id": "XP_047305661.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 332,
"cds_start": 971,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449705.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID4B",
"gene_hgnc_id": 15550,
"hgvs_c": "n.*1267G>A",
"hgvs_p": null,
"transcript": "ENST00000474953.5",
"protein_id": "ENSP00000420620.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000474953.5"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": 3,
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"exon_count": 3,
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"transcript_support_level": 2,
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"aa_length": null,
"cds_start": null,
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"cdna_start": null,
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"biotype": "pseudogene",
"feature": "ENST00000495224.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": 10,
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"exon_count": 10,
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"gene_symbol": "RBM34",
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"hgvs_c": "n.1152G>A",
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"transcript": "NR_027762.3",
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"biotype": "pseudogene",
"feature": "NR_027762.3"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
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"exon_count": 10,
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"gene_symbol": "RBM34",
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"hgvs_c": "n.1534G>A",
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"transcript": "NR_144490.2",
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"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
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"biotype": "pseudogene",
"feature": "NR_144490.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
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"exon_count": 10,
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"gene_symbol": "RBM34",
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"hgvs_c": "n.1149G>A",
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"transcript": "NR_144491.2",
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"feature": "NR_144491.2"
},
{
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"canonical": false,
"protein_coding": false,
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"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
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"exon_count": 9,
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"gene_symbol": "RBM34",
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"hgvs_c": "n.1474G>A",
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"biotype": "pseudogene",
"feature": "NR_144492.2"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
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"exon_count": 17,
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"gene_symbol": "ARID4B",
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"hgvs_c": "n.*1267G>A",
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"transcript": "ENST00000474953.5",
"protein_id": "ENSP00000420620.1",
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"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000474953.5"
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],
"gene_symbol": "RBM34",
"gene_hgnc_id": 28965,
"dbsnp": "rs777263723",
"frequency_reference_population": 0.000039320148,
"hom_count_reference_population": 0,
"allele_count_reference_population": 63,
"gnomad_exomes_af": 0.0000413807,
"gnomad_genomes_af": 0.0000197006,
"gnomad_exomes_ac": 60,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.041348665952682495,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.073,
"revel_prediction": "Benign",
"alphamissense_score": 0.0733,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.76,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -3.99,
"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": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_015014.4",
"gene_symbol": "RBM34",
"hgnc_id": 28965,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1265G>A",
"hgvs_p": "p.Arg422His"
},
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000474953.5",
"gene_symbol": "ARID4B",
"hgnc_id": 15550,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "n.*1267G>A",
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}
],
"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
}