← 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: 3-50109687-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=50109687&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 50109687,
"ref": "C",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_005778.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM5",
"gene_hgnc_id": 9902,
"hgvs_c": "c.1277C>A",
"hgvs_p": "p.Pro426Gln",
"transcript": "NM_005778.4",
"protein_id": "NP_005769.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 815,
"cds_start": 1277,
"cds_end": null,
"cds_length": 2448,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000347869.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005778.4"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM5",
"gene_hgnc_id": 9902,
"hgvs_c": "c.1277C>A",
"hgvs_p": "p.Pro426Gln",
"transcript": "ENST00000347869.8",
"protein_id": "ENSP00000343054.3",
"transcript_support_level": 1,
"aa_start": 426,
"aa_end": null,
"aa_length": 815,
"cds_start": 1277,
"cds_end": null,
"cds_length": 2448,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005778.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000347869.8"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM5",
"gene_hgnc_id": 9902,
"hgvs_c": "c.1277C>A",
"hgvs_p": "p.Pro426Gln",
"transcript": "ENST00000852698.1",
"protein_id": "ENSP00000522757.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 829,
"cds_start": 1277,
"cds_end": null,
"cds_length": 2490,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852698.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM5",
"gene_hgnc_id": 9902,
"hgvs_c": "c.1277C>A",
"hgvs_p": "p.Pro426Gln",
"transcript": "ENST00000852694.1",
"protein_id": "ENSP00000522753.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 817,
"cds_start": 1277,
"cds_end": null,
"cds_length": 2454,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852694.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM5",
"gene_hgnc_id": 9902,
"hgvs_c": "c.1277C>A",
"hgvs_p": "p.Pro426Gln",
"transcript": "ENST00000936118.1",
"protein_id": "ENSP00000606177.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 815,
"cds_start": 1277,
"cds_end": null,
"cds_length": 2448,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936118.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM5",
"gene_hgnc_id": 9902,
"hgvs_c": "c.1277C>A",
"hgvs_p": "p.Pro426Gln",
"transcript": "ENST00000952991.1",
"protein_id": "ENSP00000623050.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 815,
"cds_start": 1277,
"cds_end": null,
"cds_length": 2448,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952991.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM5",
"gene_hgnc_id": 9902,
"hgvs_c": "c.1277C>A",
"hgvs_p": "p.Pro426Gln",
"transcript": "ENST00000852693.1",
"protein_id": "ENSP00000522752.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 814,
"cds_start": 1277,
"cds_end": null,
"cds_length": 2445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852693.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM5",
"gene_hgnc_id": 9902,
"hgvs_c": "c.1268C>A",
"hgvs_p": "p.Pro423Gln",
"transcript": "ENST00000852699.1",
"protein_id": "ENSP00000522758.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 812,
"cds_start": 1268,
"cds_end": null,
"cds_length": 2439,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852699.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM5",
"gene_hgnc_id": 9902,
"hgvs_c": "c.1199C>A",
"hgvs_p": "p.Pro400Gln",
"transcript": "ENST00000852692.1",
"protein_id": "ENSP00000522751.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 789,
"cds_start": 1199,
"cds_end": null,
"cds_length": 2370,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852692.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM5",
"gene_hgnc_id": 9902,
"hgvs_c": "c.1193C>A",
"hgvs_p": "p.Pro398Gln",
"transcript": "ENST00000852702.1",
"protein_id": "ENSP00000522761.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 787,
"cds_start": 1193,
"cds_end": null,
"cds_length": 2364,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852702.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM5",
"gene_hgnc_id": 9902,
"hgvs_c": "c.1121C>A",
"hgvs_p": "p.Pro374Gln",
"transcript": "ENST00000936121.1",
"protein_id": "ENSP00000606180.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 763,
"cds_start": 1121,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936121.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM5",
"gene_hgnc_id": 9902,
"hgvs_c": "c.1121C>A",
"hgvs_p": "p.Pro374Gln",
"transcript": "ENST00000952988.1",
"protein_id": "ENSP00000623047.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 762,
"cds_start": 1121,
"cds_end": null,
"cds_length": 2289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952988.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM5",
"gene_hgnc_id": 9902,
"hgvs_c": "c.1277C>A",
"hgvs_p": "p.Pro426Gln",
"transcript": "ENST00000852695.1",
"protein_id": "ENSP00000522754.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 756,
"cds_start": 1277,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852695.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM5",
"gene_hgnc_id": 9902,
"hgvs_c": "c.1268C>A",
"hgvs_p": "p.Pro423Gln",
"transcript": "ENST00000852697.1",
"protein_id": "ENSP00000522756.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 753,
"cds_start": 1268,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852697.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM5",
"gene_hgnc_id": 9902,
"hgvs_c": "c.1055C>A",
"hgvs_p": "p.Pro352Gln",
"transcript": "ENST00000936119.1",
"protein_id": "ENSP00000606178.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 743,
"cds_start": 1055,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936119.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM5",
"gene_hgnc_id": 9902,
"hgvs_c": "c.1055C>A",
"hgvs_p": "p.Pro352Gln",
"transcript": "ENST00000852696.1",
"protein_id": "ENSP00000522755.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 741,
"cds_start": 1055,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852696.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM5",
"gene_hgnc_id": 9902,
"hgvs_c": "c.1055C>A",
"hgvs_p": "p.Pro352Gln",
"transcript": "ENST00000936122.1",
"protein_id": "ENSP00000606181.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 740,
"cds_start": 1055,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936122.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM5",
"gene_hgnc_id": 9902,
"hgvs_c": "c.989C>A",
"hgvs_p": "p.Pro330Gln",
"transcript": "ENST00000852701.1",
"protein_id": "ENSP00000522760.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 719,
"cds_start": 989,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852701.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM5",
"gene_hgnc_id": 9902,
"hgvs_c": "c.869C>A",
"hgvs_p": "p.Pro290Gln",
"transcript": "ENST00000936120.1",
"protein_id": "ENSP00000606179.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 679,
"cds_start": 869,
"cds_end": null,
"cds_length": 2040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936120.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM5",
"gene_hgnc_id": 9902,
"hgvs_c": "c.779C>A",
"hgvs_p": "p.Pro260Gln",
"transcript": "ENST00000952989.1",
"protein_id": "ENSP00000623048.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 649,
"cds_start": 779,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952989.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM5",
"gene_hgnc_id": 9902,
"hgvs_c": "c.1277C>A",
"hgvs_p": "p.Pro426Gln",
"transcript": "XM_006712917.3",
"protein_id": "XP_006712980.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 756,
"cds_start": 1277,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712917.3"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM5",
"gene_hgnc_id": 9902,
"hgvs_c": "c.1055C>A",
"hgvs_p": "p.Pro352Gln",
"transcript": "XM_011533261.3",
"protein_id": "XP_011531563.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 741,
"cds_start": 1055,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533261.3"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM5",
"gene_hgnc_id": 9902,
"hgvs_c": "c.1277C>A",
"hgvs_p": "p.Pro426Gln",
"transcript": "XM_011533262.3",
"protein_id": "XP_011531564.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 741,
"cds_start": 1277,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533262.3"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM5",
"gene_hgnc_id": 9902,
"hgvs_c": "c.1055C>A",
"hgvs_p": "p.Pro352Gln",
"transcript": "XM_017005504.3",
"protein_id": "XP_016860993.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 682,
"cds_start": 1055,
"cds_end": null,
"cds_length": 2049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005504.3"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM5",
"gene_hgnc_id": 9902,
"hgvs_c": "c.1277C>A",
"hgvs_p": "p.Pro426Gln",
"transcript": "XM_047447138.1",
"protein_id": "XP_047303094.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 682,
"cds_start": 1277,
"cds_end": null,
"cds_length": 2049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447138.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM5",
"gene_hgnc_id": 9902,
"hgvs_c": "c.536C>A",
"hgvs_p": "p.Pro179Gln",
"transcript": "XM_047447139.1",
"protein_id": "XP_047303095.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 568,
"cds_start": 536,
"cds_end": null,
"cds_length": 1707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447139.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM5",
"gene_hgnc_id": 9902,
"hgvs_c": "c.1277C>A",
"hgvs_p": "p.Pro426Gln",
"transcript": "XM_047447140.1",
"protein_id": "XP_047303096.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 462,
"cds_start": 1277,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447140.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "RBM5",
"gene_hgnc_id": 9902,
"hgvs_c": "c.1193-992C>A",
"hgvs_p": null,
"transcript": "ENST00000852700.1",
"protein_id": "ENSP00000522759.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 758,
"cds_start": null,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852700.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "RBM5",
"gene_hgnc_id": 9902,
"hgvs_c": "c.568-3696C>A",
"hgvs_p": null,
"transcript": "ENST00000952990.1",
"protein_id": "ENSP00000623049.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 519,
"cds_start": null,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952990.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM5",
"gene_hgnc_id": 9902,
"hgvs_c": "n.383C>A",
"hgvs_p": null,
"transcript": "ENST00000441812.6",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000441812.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM5",
"gene_hgnc_id": 9902,
"hgvs_c": "n.3944C>A",
"hgvs_p": null,
"transcript": "ENST00000464087.6",
"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": "ENST00000464087.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM5",
"gene_hgnc_id": 9902,
"hgvs_c": "n.752C>A",
"hgvs_p": null,
"transcript": "ENST00000474818.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000474818.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM5",
"gene_hgnc_id": 9902,
"hgvs_c": "n.325C>A",
"hgvs_p": null,
"transcript": "ENST00000489437.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000489437.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM5",
"gene_hgnc_id": 9902,
"hgvs_c": "n.449C>A",
"hgvs_p": null,
"transcript": "ENST00000494360.5",
"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": "ENST00000494360.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM5",
"gene_hgnc_id": 9902,
"hgvs_c": "n.1367C>A",
"hgvs_p": null,
"transcript": "NR_036627.3",
"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_036627.3"
}
],
"gene_symbol": "RBM5",
"gene_hgnc_id": 9902,
"dbsnp": "rs138305114",
"frequency_reference_population": 0.000019872079,
"hom_count_reference_population": 0,
"allele_count_reference_population": 29,
"gnomad_exomes_af": 0.0000198721,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 29,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.37850144505500793,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.6579999923706055,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.321,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.062,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.796,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.972852267458353,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP2,BP4,BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 5,
"pathogenic_score": 1,
"criteria": [
"PP2",
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_005778.4",
"gene_symbol": "RBM5",
"hgnc_id": 9902,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1277C>A",
"hgvs_p": "p.Pro426Gln"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}