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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: 1-235131867-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=235131867&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 235131867,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_015014.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "G",
"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.1139T>G",
"hgvs_p": "p.Val380Gly",
"transcript": "NM_015014.4",
"protein_id": "NP_055829.2",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 430,
"cds_start": 1139,
"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": "V",
"aa_alt": "G",
"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.1139T>G",
"hgvs_p": "p.Val380Gly",
"transcript": "ENST00000408888.8",
"protein_id": "ENSP00000386226.3",
"transcript_support_level": 1,
"aa_start": 380,
"aa_end": null,
"aa_length": 430,
"cds_start": 1139,
"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": "V",
"aa_alt": "G",
"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.1136T>G",
"hgvs_p": "p.Val379Gly",
"transcript": "NM_001346738.2",
"protein_id": "NP_001333667.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 429,
"cds_start": 1136,
"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": "V",
"aa_alt": "G",
"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.1136T>G",
"hgvs_p": "p.Val379Gly",
"transcript": "ENST00000888456.1",
"protein_id": "ENSP00000558515.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 429,
"cds_start": 1136,
"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": "V",
"aa_alt": "G",
"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.1136T>G",
"hgvs_p": "p.Val379Gly",
"transcript": "ENST00000917370.1",
"protein_id": "ENSP00000587429.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 429,
"cds_start": 1136,
"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": "V",
"aa_alt": "G",
"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.1133T>G",
"hgvs_p": "p.Val378Gly",
"transcript": "ENST00000917372.1",
"protein_id": "ENSP00000587431.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 428,
"cds_start": 1133,
"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": "V",
"aa_alt": "G",
"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.1130T>G",
"hgvs_p": "p.Val377Gly",
"transcript": "ENST00000917374.1",
"protein_id": "ENSP00000587433.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 427,
"cds_start": 1130,
"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": "V",
"aa_alt": "G",
"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.1121T>G",
"hgvs_p": "p.Val374Gly",
"transcript": "ENST00000966607.1",
"protein_id": "ENSP00000636666.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 424,
"cds_start": 1121,
"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": "V",
"aa_alt": "G",
"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.1076T>G",
"hgvs_p": "p.Val359Gly",
"transcript": "ENST00000966609.1",
"protein_id": "ENSP00000636668.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 409,
"cds_start": 1076,
"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": "V",
"aa_alt": "G",
"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.1073T>G",
"hgvs_p": "p.Val358Gly",
"transcript": "ENST00000447801.5",
"protein_id": "ENSP00000400000.1",
"transcript_support_level": 5,
"aa_start": 358,
"aa_end": null,
"aa_length": 408,
"cds_start": 1073,
"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": "V",
"aa_alt": "G",
"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.1043T>G",
"hgvs_p": "p.Val348Gly",
"transcript": "ENST00000966611.1",
"protein_id": "ENSP00000636670.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 398,
"cds_start": 1043,
"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": "V",
"aa_alt": "G",
"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.983T>G",
"hgvs_p": "p.Val328Gly",
"transcript": "ENST00000888458.1",
"protein_id": "ENSP00000558517.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 378,
"cds_start": 983,
"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": "V",
"aa_alt": "G",
"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.980T>G",
"hgvs_p": "p.Val327Gly",
"transcript": "ENST00000917371.1",
"protein_id": "ENSP00000587430.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 377,
"cds_start": 980,
"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": "V",
"aa_alt": "G",
"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.770T>G",
"hgvs_p": "p.Val257Gly",
"transcript": "ENST00000888457.1",
"protein_id": "ENSP00000558516.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 307,
"cds_start": 770,
"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": "V",
"aa_alt": "G",
"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.767T>G",
"hgvs_p": "p.Val256Gly",
"transcript": "ENST00000917373.1",
"protein_id": "ENSP00000587432.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 306,
"cds_start": 767,
"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": "V",
"aa_alt": "G",
"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.728T>G",
"hgvs_p": "p.Val243Gly",
"transcript": "ENST00000966608.1",
"protein_id": "ENSP00000636667.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 293,
"cds_start": 728,
"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": "V",
"aa_alt": "G",
"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.710T>G",
"hgvs_p": "p.Val237Gly",
"transcript": "ENST00000966610.1",
"protein_id": "ENSP00000636669.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 287,
"cds_start": 710,
"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": "V",
"aa_alt": "G",
"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.359T>G",
"hgvs_p": "p.Val120Gly",
"transcript": "ENST00000888459.1",
"protein_id": "ENSP00000558518.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 170,
"cds_start": 359,
"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": "V",
"aa_alt": "G",
"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.1079T>G",
"hgvs_p": "p.Val360Gly",
"transcript": "XM_011544133.3",
"protein_id": "XP_011542435.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 410,
"cds_start": 1079,
"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": "V",
"aa_alt": "G",
"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.1076T>G",
"hgvs_p": "p.Val359Gly",
"transcript": "XM_047449700.1",
"protein_id": "XP_047305656.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 409,
"cds_start": 1076,
"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": "V",
"aa_alt": "G",
"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.845T>G",
"hgvs_p": "p.Val282Gly",
"transcript": "XM_047449705.1",
"protein_id": "XP_047305661.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 332,
"cds_start": 845,
"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.*1141T>G",
"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"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
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"exon_count": 3,
"intron_rank": null,
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"gene_symbol": "RBM34",
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"transcript": "ENST00000495224.1",
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"transcript_support_level": 2,
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"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000495224.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_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": "n.1026T>G",
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"transcript": "NR_027762.3",
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"transcript_support_level": null,
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"aa_end": null,
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"cdna_start": null,
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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,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM34",
"gene_hgnc_id": 28965,
"hgvs_c": "n.1408T>G",
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"transcript": "NR_144490.2",
"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": "NR_144490.2"
},
{
"aa_ref": null,
"aa_alt": null,
"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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"intron_rank_end": null,
"gene_symbol": "RBM34",
"gene_hgnc_id": 28965,
"hgvs_c": "n.1023T>G",
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"transcript": "NR_144491.2",
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"aa_end": null,
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"cdna_end": null,
"cdna_length": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_144491.2"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
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"exon_count": 9,
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"intron_rank_end": null,
"gene_symbol": "RBM34",
"gene_hgnc_id": 28965,
"hgvs_c": "n.1348T>G",
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"transcript": "NR_144492.2",
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"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
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"cdna_end": null,
"cdna_length": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_144492.2"
},
{
"aa_ref": null,
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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,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARID4B",
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"hgvs_c": "n.*1141T>G",
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"transcript": "ENST00000474953.5",
"protein_id": "ENSP00000420620.1",
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"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"
}
],
"gene_symbol": "RBM34",
"gene_hgnc_id": 28965,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.045116424560546875,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.049,
"revel_prediction": "Benign",
"alphamissense_score": 0.0804,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.68,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.159,
"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.1139T>G",
"hgvs_p": "p.Val380Gly"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000474953.5",
"gene_symbol": "ARID4B",
"hgnc_id": 15550,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "n.*1141T>G",
"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
}