← 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: 13-79322443-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=79322443&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 79322443,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001286631.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM26",
"gene_hgnc_id": 20327,
"hgvs_c": "c.2840G>A",
"hgvs_p": "p.Arg947His",
"transcript": "NM_001366735.2",
"protein_id": "NP_001353664.1",
"transcript_support_level": null,
"aa_start": 947,
"aa_end": null,
"aa_length": 1007,
"cds_start": 2840,
"cds_end": null,
"cds_length": 3024,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000438737.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366735.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM26",
"gene_hgnc_id": 20327,
"hgvs_c": "c.2840G>A",
"hgvs_p": "p.Arg947His",
"transcript": "ENST00000438737.3",
"protein_id": "ENSP00000387531.2",
"transcript_support_level": 5,
"aa_start": 947,
"aa_end": null,
"aa_length": 1007,
"cds_start": 2840,
"cds_end": null,
"cds_length": 3024,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001366735.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438737.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM26",
"gene_hgnc_id": 20327,
"hgvs_c": "c.2768G>A",
"hgvs_p": "p.Arg923His",
"transcript": "ENST00000438724.5",
"protein_id": "ENSP00000390222.1",
"transcript_support_level": 1,
"aa_start": 923,
"aa_end": null,
"aa_length": 983,
"cds_start": 2768,
"cds_end": null,
"cds_length": 2952,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438724.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM26",
"gene_hgnc_id": 20327,
"hgvs_c": "c.2759G>A",
"hgvs_p": "p.Arg920His",
"transcript": "ENST00000267229.11",
"protein_id": "ENSP00000267229.7",
"transcript_support_level": 1,
"aa_start": 920,
"aa_end": null,
"aa_length": 980,
"cds_start": 2759,
"cds_end": null,
"cds_length": 2943,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000267229.11"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM26",
"gene_hgnc_id": 20327,
"hgvs_c": "c.2885G>A",
"hgvs_p": "p.Arg962His",
"transcript": "ENST00000915849.1",
"protein_id": "ENSP00000585908.1",
"transcript_support_level": null,
"aa_start": 962,
"aa_end": null,
"aa_length": 1022,
"cds_start": 2885,
"cds_end": null,
"cds_length": 3069,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915849.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM26",
"gene_hgnc_id": 20327,
"hgvs_c": "c.2876G>A",
"hgvs_p": "p.Arg959His",
"transcript": "ENST00000862496.1",
"protein_id": "ENSP00000532555.1",
"transcript_support_level": null,
"aa_start": 959,
"aa_end": null,
"aa_length": 1019,
"cds_start": 2876,
"cds_end": null,
"cds_length": 3060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862496.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM26",
"gene_hgnc_id": 20327,
"hgvs_c": "c.2870G>A",
"hgvs_p": "p.Arg957His",
"transcript": "ENST00000862501.1",
"protein_id": "ENSP00000532560.1",
"transcript_support_level": null,
"aa_start": 957,
"aa_end": null,
"aa_length": 1017,
"cds_start": 2870,
"cds_end": null,
"cds_length": 3054,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862501.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM26",
"gene_hgnc_id": 20327,
"hgvs_c": "c.2861G>A",
"hgvs_p": "p.Arg954His",
"transcript": "ENST00000915848.1",
"protein_id": "ENSP00000585907.1",
"transcript_support_level": null,
"aa_start": 954,
"aa_end": null,
"aa_length": 1014,
"cds_start": 2861,
"cds_end": null,
"cds_length": 3045,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915848.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM26",
"gene_hgnc_id": 20327,
"hgvs_c": "c.2858G>A",
"hgvs_p": "p.Arg953His",
"transcript": "ENST00000969728.1",
"protein_id": "ENSP00000639787.1",
"transcript_support_level": null,
"aa_start": 953,
"aa_end": null,
"aa_length": 1013,
"cds_start": 2858,
"cds_end": null,
"cds_length": 3042,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969728.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM26",
"gene_hgnc_id": 20327,
"hgvs_c": "c.2855G>A",
"hgvs_p": "p.Arg952His",
"transcript": "ENST00000862504.1",
"protein_id": "ENSP00000532563.1",
"transcript_support_level": null,
"aa_start": 952,
"aa_end": null,
"aa_length": 1012,
"cds_start": 2855,
"cds_end": null,
"cds_length": 3039,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862504.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM26",
"gene_hgnc_id": 20327,
"hgvs_c": "c.2846G>A",
"hgvs_p": "p.Arg949His",
"transcript": "NM_001286631.2",
"protein_id": "NP_001273560.1",
"transcript_support_level": null,
"aa_start": 949,
"aa_end": null,
"aa_length": 1009,
"cds_start": 2846,
"cds_end": null,
"cds_length": 3030,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286631.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM26",
"gene_hgnc_id": 20327,
"hgvs_c": "c.2846G>A",
"hgvs_p": "p.Arg949His",
"transcript": "ENST00000622611.4",
"protein_id": "ENSP00000483408.1",
"transcript_support_level": 2,
"aa_start": 949,
"aa_end": null,
"aa_length": 1009,
"cds_start": 2846,
"cds_end": null,
"cds_length": 3030,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000622611.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM26",
"gene_hgnc_id": 20327,
"hgvs_c": "c.2837G>A",
"hgvs_p": "p.Arg946His",
"transcript": "ENST00000862503.1",
"protein_id": "ENSP00000532562.1",
"transcript_support_level": null,
"aa_start": 946,
"aa_end": null,
"aa_length": 1006,
"cds_start": 2837,
"cds_end": null,
"cds_length": 3021,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862503.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM26",
"gene_hgnc_id": 20327,
"hgvs_c": "c.2831G>A",
"hgvs_p": "p.Arg944His",
"transcript": "ENST00000862498.1",
"protein_id": "ENSP00000532557.1",
"transcript_support_level": null,
"aa_start": 944,
"aa_end": null,
"aa_length": 1004,
"cds_start": 2831,
"cds_end": null,
"cds_length": 3015,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862498.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM26",
"gene_hgnc_id": 20327,
"hgvs_c": "c.2828G>A",
"hgvs_p": "p.Arg943His",
"transcript": "ENST00000862508.1",
"protein_id": "ENSP00000532567.1",
"transcript_support_level": null,
"aa_start": 943,
"aa_end": null,
"aa_length": 1003,
"cds_start": 2828,
"cds_end": null,
"cds_length": 3012,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862508.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM26",
"gene_hgnc_id": 20327,
"hgvs_c": "c.2813G>A",
"hgvs_p": "p.Arg938His",
"transcript": "ENST00000862510.1",
"protein_id": "ENSP00000532569.1",
"transcript_support_level": null,
"aa_start": 938,
"aa_end": null,
"aa_length": 998,
"cds_start": 2813,
"cds_end": null,
"cds_length": 2997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862510.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM26",
"gene_hgnc_id": 20327,
"hgvs_c": "c.2804G>A",
"hgvs_p": "p.Arg935His",
"transcript": "ENST00000862509.1",
"protein_id": "ENSP00000532568.1",
"transcript_support_level": null,
"aa_start": 935,
"aa_end": null,
"aa_length": 995,
"cds_start": 2804,
"cds_end": null,
"cds_length": 2988,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862509.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM26",
"gene_hgnc_id": 20327,
"hgvs_c": "c.2798G>A",
"hgvs_p": "p.Arg933His",
"transcript": "ENST00000862497.1",
"protein_id": "ENSP00000532556.1",
"transcript_support_level": null,
"aa_start": 933,
"aa_end": null,
"aa_length": 993,
"cds_start": 2798,
"cds_end": null,
"cds_length": 2982,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862497.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM26",
"gene_hgnc_id": 20327,
"hgvs_c": "c.2795G>A",
"hgvs_p": "p.Arg932His",
"transcript": "ENST00000915847.1",
"protein_id": "ENSP00000585906.1",
"transcript_support_level": null,
"aa_start": 932,
"aa_end": null,
"aa_length": 992,
"cds_start": 2795,
"cds_end": null,
"cds_length": 2979,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915847.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM26",
"gene_hgnc_id": 20327,
"hgvs_c": "c.2789G>A",
"hgvs_p": "p.Arg930His",
"transcript": "ENST00000862507.1",
"protein_id": "ENSP00000532566.1",
"transcript_support_level": null,
"aa_start": 930,
"aa_end": null,
"aa_length": 990,
"cds_start": 2789,
"cds_end": null,
"cds_length": 2973,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862507.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM26",
"gene_hgnc_id": 20327,
"hgvs_c": "c.2786G>A",
"hgvs_p": "p.Arg929His",
"transcript": "ENST00000862506.1",
"protein_id": "ENSP00000532565.1",
"transcript_support_level": null,
"aa_start": 929,
"aa_end": null,
"aa_length": 989,
"cds_start": 2786,
"cds_end": null,
"cds_length": 2970,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862506.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM26",
"gene_hgnc_id": 20327,
"hgvs_c": "c.2783G>A",
"hgvs_p": "p.Arg928His",
"transcript": "ENST00000862499.1",
"protein_id": "ENSP00000532558.1",
"transcript_support_level": null,
"aa_start": 928,
"aa_end": null,
"aa_length": 988,
"cds_start": 2783,
"cds_end": null,
"cds_length": 2967,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862499.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM26",
"gene_hgnc_id": 20327,
"hgvs_c": "c.2774G>A",
"hgvs_p": "p.Arg925His",
"transcript": "ENST00000862500.1",
"protein_id": "ENSP00000532559.1",
"transcript_support_level": null,
"aa_start": 925,
"aa_end": null,
"aa_length": 985,
"cds_start": 2774,
"cds_end": null,
"cds_length": 2958,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862500.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM26",
"gene_hgnc_id": 20327,
"hgvs_c": "c.2768G>A",
"hgvs_p": "p.Arg923His",
"transcript": "NM_001286632.2",
"protein_id": "NP_001273561.1",
"transcript_support_level": null,
"aa_start": 923,
"aa_end": null,
"aa_length": 983,
"cds_start": 2768,
"cds_end": null,
"cds_length": 2952,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286632.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM26",
"gene_hgnc_id": 20327,
"hgvs_c": "c.2765G>A",
"hgvs_p": "p.Arg922His",
"transcript": "ENST00000969727.1",
"protein_id": "ENSP00000639786.1",
"transcript_support_level": null,
"aa_start": 922,
"aa_end": null,
"aa_length": 982,
"cds_start": 2765,
"cds_end": null,
"cds_length": 2949,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969727.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM26",
"gene_hgnc_id": 20327,
"hgvs_c": "c.2768G>A",
"hgvs_p": "p.Arg923His",
"transcript": "ENST00000862505.1",
"protein_id": "ENSP00000532564.1",
"transcript_support_level": null,
"aa_start": 923,
"aa_end": null,
"aa_length": 981,
"cds_start": 2768,
"cds_end": null,
"cds_length": 2946,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862505.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM26",
"gene_hgnc_id": 20327,
"hgvs_c": "c.2759G>A",
"hgvs_p": "p.Arg920His",
"transcript": "NM_022118.5",
"protein_id": "NP_071401.3",
"transcript_support_level": null,
"aa_start": 920,
"aa_end": null,
"aa_length": 980,
"cds_start": 2759,
"cds_end": null,
"cds_length": 2943,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022118.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM26",
"gene_hgnc_id": 20327,
"hgvs_c": "c.2681G>A",
"hgvs_p": "p.Arg894His",
"transcript": "ENST00000862502.1",
"protein_id": "ENSP00000532561.1",
"transcript_support_level": null,
"aa_start": 894,
"aa_end": null,
"aa_length": 954,
"cds_start": 2681,
"cds_end": null,
"cds_length": 2865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862502.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM26",
"gene_hgnc_id": 20327,
"hgvs_c": "c.2603G>A",
"hgvs_p": "p.Arg868His",
"transcript": "ENST00000862511.1",
"protein_id": "ENSP00000532570.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 928,
"cds_start": 2603,
"cds_end": null,
"cds_length": 2787,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862511.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM26",
"gene_hgnc_id": 20327,
"hgvs_c": "c.398G>A",
"hgvs_p": "p.Arg133His",
"transcript": "ENST00000449987.6",
"protein_id": "ENSP00000401474.2",
"transcript_support_level": 3,
"aa_start": 133,
"aa_end": null,
"aa_length": 171,
"cds_start": 398,
"cds_end": null,
"cds_length": 516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000449987.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM26",
"gene_hgnc_id": 20327,
"hgvs_c": "c.2885G>A",
"hgvs_p": "p.Arg962His",
"transcript": "XM_011535179.3",
"protein_id": "XP_011533481.1",
"transcript_support_level": null,
"aa_start": 962,
"aa_end": null,
"aa_length": 1025,
"cds_start": 2885,
"cds_end": null,
"cds_length": 3078,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535179.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM26",
"gene_hgnc_id": 20327,
"hgvs_c": "c.2876G>A",
"hgvs_p": "p.Arg959His",
"transcript": "XM_011535181.3",
"protein_id": "XP_011533483.1",
"transcript_support_level": null,
"aa_start": 959,
"aa_end": null,
"aa_length": 1022,
"cds_start": 2876,
"cds_end": null,
"cds_length": 3069,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535181.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM26",
"gene_hgnc_id": 20327,
"hgvs_c": "c.2885G>A",
"hgvs_p": "p.Arg962His",
"transcript": "XM_047430501.1",
"protein_id": "XP_047286457.1",
"transcript_support_level": null,
"aa_start": 962,
"aa_end": null,
"aa_length": 1022,
"cds_start": 2885,
"cds_end": null,
"cds_length": 3069,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430501.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM26",
"gene_hgnc_id": 20327,
"hgvs_c": "c.2870G>A",
"hgvs_p": "p.Arg957His",
"transcript": "XM_011535182.3",
"protein_id": "XP_011533484.1",
"transcript_support_level": null,
"aa_start": 957,
"aa_end": null,
"aa_length": 1020,
"cds_start": 2870,
"cds_end": null,
"cds_length": 3063,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535182.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM26",
"gene_hgnc_id": 20327,
"hgvs_c": "c.2876G>A",
"hgvs_p": "p.Arg959His",
"transcript": "XM_047430502.1",
"protein_id": "XP_047286458.1",
"transcript_support_level": null,
"aa_start": 959,
"aa_end": null,
"aa_length": 1019,
"cds_start": 2876,
"cds_end": null,
"cds_length": 3060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430502.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM26",
"gene_hgnc_id": 20327,
"hgvs_c": "c.2861G>A",
"hgvs_p": "p.Arg954His",
"transcript": "XM_017020689.3",
"protein_id": "XP_016876178.1",
"transcript_support_level": null,
"aa_start": 954,
"aa_end": null,
"aa_length": 1017,
"cds_start": 2861,
"cds_end": null,
"cds_length": 3054,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020689.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM26",
"gene_hgnc_id": 20327,
"hgvs_c": "c.2870G>A",
"hgvs_p": "p.Arg957His",
"transcript": "XM_047430503.1",
"protein_id": "XP_047286459.1",
"transcript_support_level": null,
"aa_start": 957,
"aa_end": null,
"aa_length": 1017,
"cds_start": 2870,
"cds_end": null,
"cds_length": 3054,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430503.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM26",
"gene_hgnc_id": 20327,
"hgvs_c": "c.2855G>A",
"hgvs_p": "p.Arg952His",
"transcript": "XM_011535184.3",
"protein_id": "XP_011533486.1",
"transcript_support_level": null,
"aa_start": 952,
"aa_end": null,
"aa_length": 1015,
"cds_start": 2855,
"cds_end": null,
"cds_length": 3048,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535184.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM26",
"gene_hgnc_id": 20327,
"hgvs_c": "c.2861G>A",
"hgvs_p": "p.Arg954His",
"transcript": "XM_047430504.1",
"protein_id": "XP_047286460.1",
"transcript_support_level": null,
"aa_start": 954,
"aa_end": null,
"aa_length": 1014,
"cds_start": 2861,
"cds_end": null,
"cds_length": 3045,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430504.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM26",
"gene_hgnc_id": 20327,
"hgvs_c": "c.2855G>A",
"hgvs_p": "p.Arg952His",
"transcript": "XM_047430506.1",
"protein_id": "XP_047286462.1",
"transcript_support_level": null,
"aa_start": 952,
"aa_end": null,
"aa_length": 1012,
"cds_start": 2855,
"cds_end": null,
"cds_length": 3039,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430506.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM26",
"gene_hgnc_id": 20327,
"hgvs_c": "c.2840G>A",
"hgvs_p": "p.Arg947His",
"transcript": "XM_011535186.4",
"protein_id": "XP_011533488.1",
"transcript_support_level": null,
"aa_start": 947,
"aa_end": null,
"aa_length": 1010,
"cds_start": 2840,
"cds_end": null,
"cds_length": 3033,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535186.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM26",
"gene_hgnc_id": 20327,
"hgvs_c": "c.2831G>A",
"hgvs_p": "p.Arg944His",
"transcript": "XM_047430508.1",
"protein_id": "XP_047286464.1",
"transcript_support_level": null,
"aa_start": 944,
"aa_end": null,
"aa_length": 1007,
"cds_start": 2831,
"cds_end": null,
"cds_length": 3024,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430508.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM26",
"gene_hgnc_id": 20327,
"hgvs_c": "c.2831G>A",
"hgvs_p": "p.Arg944His",
"transcript": "XM_047430507.1",
"protein_id": "XP_047286463.1",
"transcript_support_level": null,
"aa_start": 944,
"aa_end": null,
"aa_length": 1004,
"cds_start": 2831,
"cds_end": null,
"cds_length": 3015,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430507.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM26",
"gene_hgnc_id": 20327,
"hgvs_c": "c.2885G>A",
"hgvs_p": "p.Arg962His",
"transcript": "XM_005266497.3",
"protein_id": "XP_005266554.1",
"transcript_support_level": null,
"aa_start": 962,
"aa_end": null,
"aa_length": 1000,
"cds_start": 2885,
"cds_end": null,
"cds_length": 3003,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005266497.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM26",
"gene_hgnc_id": 20327,
"hgvs_c": "c.2885G>A",
"hgvs_p": "p.Arg962His",
"transcript": "XM_006719857.3",
"protein_id": "XP_006719920.1",
"transcript_support_level": null,
"aa_start": 962,
"aa_end": null,
"aa_length": 999,
"cds_start": 2885,
"cds_end": null,
"cds_length": 3000,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006719857.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM26",
"gene_hgnc_id": 20327,
"hgvs_c": "c.2813G>A",
"hgvs_p": "p.Arg938His",
"transcript": "XM_047430509.1",
"protein_id": "XP_047286465.1",
"transcript_support_level": null,
"aa_start": 938,
"aa_end": null,
"aa_length": 998,
"cds_start": 2813,
"cds_end": null,
"cds_length": 2997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430509.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM26",
"gene_hgnc_id": 20327,
"hgvs_c": "c.2876G>A",
"hgvs_p": "p.Arg959His",
"transcript": "XM_047430510.1",
"protein_id": "XP_047286466.1",
"transcript_support_level": null,
"aa_start": 959,
"aa_end": null,
"aa_length": 997,
"cds_start": 2876,
"cds_end": null,
"cds_length": 2994,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430510.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM26",
"gene_hgnc_id": 20327,
"hgvs_c": "c.2798G>A",
"hgvs_p": "p.Arg933His",
"transcript": "XM_017020696.3",
"protein_id": "XP_016876185.1",
"transcript_support_level": null,
"aa_start": 933,
"aa_end": null,
"aa_length": 996,
"cds_start": 2798,
"cds_end": null,
"cds_length": 2991,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020696.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM26",
"gene_hgnc_id": 20327,
"hgvs_c": "c.2870G>A",
"hgvs_p": "p.Arg957His",
"transcript": "XM_047430511.1",
"protein_id": "XP_047286467.1",
"transcript_support_level": null,
"aa_start": 957,
"aa_end": null,
"aa_length": 995,
"cds_start": 2870,
"cds_end": null,
"cds_length": 2988,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430511.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM26",
"gene_hgnc_id": 20327,
"hgvs_c": "c.2804G>A",
"hgvs_p": "p.Arg935His",
"transcript": "XM_047430512.1",
"protein_id": "XP_047286468.1",
"transcript_support_level": null,
"aa_start": 935,
"aa_end": null,
"aa_length": 995,
"cds_start": 2804,
"cds_end": null,
"cds_length": 2988,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430512.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM26",
"gene_hgnc_id": 20327,
"hgvs_c": "c.2870G>A",
"hgvs_p": "p.Arg957His",
"transcript": "XM_017020697.3",
"protein_id": "XP_016876186.1",
"transcript_support_level": null,
"aa_start": 957,
"aa_end": null,
"aa_length": 994,
"cds_start": 2870,
"cds_end": null,
"cds_length": 2985,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020697.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM26",
"gene_hgnc_id": 20327,
"hgvs_c": "c.2789G>A",
"hgvs_p": "p.Arg930His",
"transcript": "XM_017020695.3",
"protein_id": "XP_016876184.1",
"transcript_support_level": null,
"aa_start": 930,
"aa_end": null,
"aa_length": 993,
"cds_start": 2789,
"cds_end": null,
"cds_length": 2982,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020695.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM26",
"gene_hgnc_id": 20327,
"hgvs_c": "c.2798G>A",
"hgvs_p": "p.Arg933His",
"transcript": "XM_047430513.1",
"protein_id": "XP_047286469.1",
"transcript_support_level": null,
"aa_start": 933,
"aa_end": null,
"aa_length": 993,
"cds_start": 2798,
"cds_end": null,
"cds_length": 2982,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430513.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM26",
"gene_hgnc_id": 20327,
"hgvs_c": "c.2861G>A",
"hgvs_p": "p.Arg954His",
"transcript": "XM_047430514.1",
"protein_id": "XP_047286470.1",
"transcript_support_level": null,
"aa_start": 954,
"aa_end": null,
"aa_length": 992,
"cds_start": 2861,
"cds_end": null,
"cds_length": 2979,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430514.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM26",
"gene_hgnc_id": 20327,
"hgvs_c": "c.2789G>A",
"hgvs_p": "p.Arg930His",
"transcript": "XM_047430515.1",
"protein_id": "XP_047286471.1",
"transcript_support_level": null,
"aa_start": 930,
"aa_end": null,
"aa_length": 990,
"cds_start": 2789,
"cds_end": null,
"cds_length": 2973,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430515.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM26",
"gene_hgnc_id": 20327,
"hgvs_c": "c.2855G>A",
"hgvs_p": "p.Arg952His",
"transcript": "XM_047430516.1",
"protein_id": "XP_047286472.1",
"transcript_support_level": null,
"aa_start": 952,
"aa_end": null,
"aa_length": 989,
"cds_start": 2855,
"cds_end": null,
"cds_length": 2970,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430516.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM26",
"gene_hgnc_id": 20327,
"hgvs_c": "c.2783G>A",
"hgvs_p": "p.Arg928His",
"transcript": "XM_047430517.1",
"protein_id": "XP_047286473.1",
"transcript_support_level": null,
"aa_start": 928,
"aa_end": null,
"aa_length": 988,
"cds_start": 2783,
"cds_end": null,
"cds_length": 2967,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430517.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM26",
"gene_hgnc_id": 20327,
"hgvs_c": "c.2774G>A",
"hgvs_p": "p.Arg925His",
"transcript": "XM_047430518.1",
"protein_id": "XP_047286474.1",
"transcript_support_level": null,
"aa_start": 925,
"aa_end": null,
"aa_length": 985,
"cds_start": 2774,
"cds_end": null,
"cds_length": 2958,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430518.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM26",
"gene_hgnc_id": 20327,
"hgvs_c": "c.2840G>A",
"hgvs_p": "p.Arg947His",
"transcript": "XM_047430519.1",
"protein_id": "XP_047286475.1",
"transcript_support_level": null,
"aa_start": 947,
"aa_end": null,
"aa_length": 985,
"cds_start": 2840,
"cds_end": null,
"cds_length": 2958,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430519.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM26",
"gene_hgnc_id": 20327,
"hgvs_c": "c.2840G>A",
"hgvs_p": "p.Arg947His",
"transcript": "XM_047430522.1",
"protein_id": "XP_047286478.1",
"transcript_support_level": null,
"aa_start": 947,
"aa_end": null,
"aa_length": 984,
"cds_start": 2840,
"cds_end": null,
"cds_length": 2955,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430522.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM26",
"gene_hgnc_id": 20327,
"hgvs_c": "c.2831G>A",
"hgvs_p": "p.Arg944His",
"transcript": "XM_047430521.1",
"protein_id": "XP_047286477.1",
"transcript_support_level": null,
"aa_start": 944,
"aa_end": null,
"aa_length": 981,
"cds_start": 2831,
"cds_end": null,
"cds_length": 2946,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430521.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM26",
"gene_hgnc_id": 20327,
"hgvs_c": "c.2813G>A",
"hgvs_p": "p.Arg938His",
"transcript": "XM_047430523.1",
"protein_id": "XP_047286479.1",
"transcript_support_level": null,
"aa_start": 938,
"aa_end": null,
"aa_length": 976,
"cds_start": 2813,
"cds_end": null,
"cds_length": 2931,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430523.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM26",
"gene_hgnc_id": 20327,
"hgvs_c": "c.2813G>A",
"hgvs_p": "p.Arg938His",
"transcript": "XM_047430524.1",
"protein_id": "XP_047286480.1",
"transcript_support_level": null,
"aa_start": 938,
"aa_end": null,
"aa_length": 975,
"cds_start": 2813,
"cds_end": null,
"cds_length": 2928,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430524.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM26",
"gene_hgnc_id": 20327,
"hgvs_c": "c.2804G>A",
"hgvs_p": "p.Arg935His",
"transcript": "XM_047430525.1",
"protein_id": "XP_047286481.1",
"transcript_support_level": null,
"aa_start": 935,
"aa_end": null,
"aa_length": 973,
"cds_start": 2804,
"cds_end": null,
"cds_length": 2922,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430525.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM26",
"gene_hgnc_id": 20327,
"hgvs_c": "c.2804G>A",
"hgvs_p": "p.Arg935His",
"transcript": "XM_047430526.1",
"protein_id": "XP_047286482.1",
"transcript_support_level": null,
"aa_start": 935,
"aa_end": null,
"aa_length": 972,
"cds_start": 2804,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430526.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM26",
"gene_hgnc_id": 20327,
"hgvs_c": "c.2798G>A",
"hgvs_p": "p.Arg933His",
"transcript": "XM_047430527.1",
"protein_id": "XP_047286483.1",
"transcript_support_level": null,
"aa_start": 933,
"aa_end": null,
"aa_length": 971,
"cds_start": 2798,
"cds_end": null,
"cds_length": 2916,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430527.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM26",
"gene_hgnc_id": 20327,
"hgvs_c": "c.2798G>A",
"hgvs_p": "p.Arg933His",
"transcript": "XM_047430529.1",
"protein_id": "XP_047286485.1",
"transcript_support_level": null,
"aa_start": 933,
"aa_end": null,
"aa_length": 970,
"cds_start": 2798,
"cds_end": null,
"cds_length": 2913,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430529.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM26",
"gene_hgnc_id": 20327,
"hgvs_c": "c.2789G>A",
"hgvs_p": "p.Arg930His",
"transcript": "XM_047430528.1",
"protein_id": "XP_047286484.1",
"transcript_support_level": null,
"aa_start": 930,
"aa_end": null,
"aa_length": 968,
"cds_start": 2789,
"cds_end": null,
"cds_length": 2907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430528.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM26",
"gene_hgnc_id": 20327,
"hgvs_c": "c.2783G>A",
"hgvs_p": "p.Arg928His",
"transcript": "XM_047430530.1",
"protein_id": "XP_047286486.1",
"transcript_support_level": null,
"aa_start": 928,
"aa_end": null,
"aa_length": 966,
"cds_start": 2783,
"cds_end": null,
"cds_length": 2901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430530.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM26",
"gene_hgnc_id": 20327,
"hgvs_c": "c.2783G>A",
"hgvs_p": "p.Arg928His",
"transcript": "XM_047430531.1",
"protein_id": "XP_047286487.1",
"transcript_support_level": null,
"aa_start": 928,
"aa_end": null,
"aa_length": 965,
"cds_start": 2783,
"cds_end": null,
"cds_length": 2898,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430531.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM26",
"gene_hgnc_id": 20327,
"hgvs_c": "c.2774G>A",
"hgvs_p": "p.Arg925His",
"transcript": "XM_047430532.1",
"protein_id": "XP_047286488.1",
"transcript_support_level": null,
"aa_start": 925,
"aa_end": null,
"aa_length": 963,
"cds_start": 2774,
"cds_end": null,
"cds_length": 2892,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430532.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM26",
"gene_hgnc_id": 20327,
"hgvs_c": "c.2768G>A",
"hgvs_p": "p.Arg923His",
"transcript": "XM_047430533.1",
"protein_id": "XP_047286489.1",
"transcript_support_level": null,
"aa_start": 923,
"aa_end": null,
"aa_length": 961,
"cds_start": 2768,
"cds_end": null,
"cds_length": 2886,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430533.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM26",
"gene_hgnc_id": 20327,
"hgvs_c": "c.2768G>A",
"hgvs_p": "p.Arg923His",
"transcript": "XM_047430534.1",
"protein_id": "XP_047286490.1",
"transcript_support_level": null,
"aa_start": 923,
"aa_end": null,
"aa_length": 960,
"cds_start": 2768,
"cds_end": null,
"cds_length": 2883,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430534.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM26",
"gene_hgnc_id": 20327,
"hgvs_c": "c.2759G>A",
"hgvs_p": "p.Arg920His",
"transcript": "XM_047430535.1",
"protein_id": "XP_047286491.1",
"transcript_support_level": null,
"aa_start": 920,
"aa_end": null,
"aa_length": 958,
"cds_start": 2759,
"cds_end": null,
"cds_length": 2877,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430535.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM26",
"gene_hgnc_id": 20327,
"hgvs_c": "c.2759G>A",
"hgvs_p": "p.Arg920His",
"transcript": "XM_047430536.1",
"protein_id": "XP_047286492.1",
"transcript_support_level": null,
"aa_start": 920,
"aa_end": null,
"aa_length": 957,
"cds_start": 2759,
"cds_end": null,
"cds_length": 2874,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430536.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM26",
"gene_hgnc_id": 20327,
"hgvs_c": "c.2021G>A",
"hgvs_p": "p.Arg674His",
"transcript": "XM_011535195.2",
"protein_id": "XP_011533497.1",
"transcript_support_level": null,
"aa_start": 674,
"aa_end": null,
"aa_length": 737,
"cds_start": 2021,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535195.2"
}
],
"gene_symbol": "RBM26",
"gene_hgnc_id": 20327,
"dbsnp": "rs758507264",
"frequency_reference_population": 0.00003825623,
"hom_count_reference_population": 0,
"allele_count_reference_population": 60,
"gnomad_exomes_af": 0.0000395232,
"gnomad_genomes_af": 0.0000264054,
"gnomad_exomes_ac": 56,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.16229280829429626,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.171,
"revel_prediction": "Benign",
"alphamissense_score": 0.0803,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.181,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001286631.2",
"gene_symbol": "RBM26",
"hgnc_id": 20327,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2846G>A",
"hgvs_p": "p.Arg949His"
}
],
"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
}