← 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: 14-69771324-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=69771324&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 69771324,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_006925.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF5",
"gene_hgnc_id": 10787,
"hgvs_c": "c.682C>A",
"hgvs_p": "p.Arg228Ser",
"transcript": "NM_001320214.2",
"protein_id": "NP_001307143.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 272,
"cds_start": 682,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000557154.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320214.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF5",
"gene_hgnc_id": 10787,
"hgvs_c": "c.682C>A",
"hgvs_p": "p.Arg228Ser",
"transcript": "ENST00000557154.6",
"protein_id": "ENSP00000451088.1",
"transcript_support_level": 2,
"aa_start": 228,
"aa_end": null,
"aa_length": 272,
"cds_start": 682,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001320214.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000557154.6"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF5",
"gene_hgnc_id": 10787,
"hgvs_c": "c.682C>A",
"hgvs_p": "p.Arg228Ser",
"transcript": "ENST00000394366.6",
"protein_id": "ENSP00000377892.2",
"transcript_support_level": 1,
"aa_start": 228,
"aa_end": null,
"aa_length": 272,
"cds_start": 682,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394366.6"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF5",
"gene_hgnc_id": 10787,
"hgvs_c": "c.682C>A",
"hgvs_p": "p.Arg228Ser",
"transcript": "ENST00000553521.5",
"protein_id": "ENSP00000452123.1",
"transcript_support_level": 1,
"aa_start": 228,
"aa_end": null,
"aa_length": 272,
"cds_start": 682,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000553521.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF5",
"gene_hgnc_id": 10787,
"hgvs_c": "n.2364C>A",
"hgvs_p": null,
"transcript": "ENST00000554465.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000554465.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF5",
"gene_hgnc_id": 10787,
"hgvs_c": "n.2125C>A",
"hgvs_p": null,
"transcript": "ENST00000556184.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000556184.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF5",
"gene_hgnc_id": 10787,
"hgvs_c": "n.1182C>A",
"hgvs_p": null,
"transcript": "ENST00000556587.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000556587.5"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF5",
"gene_hgnc_id": 10787,
"hgvs_c": "c.703C>A",
"hgvs_p": "p.Arg235Ser",
"transcript": "ENST00000921631.1",
"protein_id": "ENSP00000591690.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 279,
"cds_start": 703,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921631.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF5",
"gene_hgnc_id": 10787,
"hgvs_c": "c.703C>A",
"hgvs_p": "p.Arg235Ser",
"transcript": "ENST00000921632.1",
"protein_id": "ENSP00000591691.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 279,
"cds_start": 703,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921632.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF5",
"gene_hgnc_id": 10787,
"hgvs_c": "c.703C>A",
"hgvs_p": "p.Arg235Ser",
"transcript": "ENST00000921636.1",
"protein_id": "ENSP00000591695.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 279,
"cds_start": 703,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921636.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF5",
"gene_hgnc_id": 10787,
"hgvs_c": "c.682C>A",
"hgvs_p": "p.Arg228Ser",
"transcript": "NM_001039465.2",
"protein_id": "NP_001034554.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 272,
"cds_start": 682,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001039465.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF5",
"gene_hgnc_id": 10787,
"hgvs_c": "c.682C>A",
"hgvs_p": "p.Arg228Ser",
"transcript": "NM_006925.5",
"protein_id": "NP_008856.2",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 272,
"cds_start": 682,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006925.5"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF5",
"gene_hgnc_id": 10787,
"hgvs_c": "c.682C>A",
"hgvs_p": "p.Arg228Ser",
"transcript": "ENST00000880758.1",
"protein_id": "ENSP00000550817.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 272,
"cds_start": 682,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880758.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF5",
"gene_hgnc_id": 10787,
"hgvs_c": "c.682C>A",
"hgvs_p": "p.Arg228Ser",
"transcript": "ENST00000880760.1",
"protein_id": "ENSP00000550819.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 272,
"cds_start": 682,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880760.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF5",
"gene_hgnc_id": 10787,
"hgvs_c": "c.682C>A",
"hgvs_p": "p.Arg228Ser",
"transcript": "ENST00000880766.1",
"protein_id": "ENSP00000550825.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 272,
"cds_start": 682,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880766.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF5",
"gene_hgnc_id": 10787,
"hgvs_c": "c.682C>A",
"hgvs_p": "p.Arg228Ser",
"transcript": "ENST00000880767.1",
"protein_id": "ENSP00000550826.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 272,
"cds_start": 682,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880767.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF5",
"gene_hgnc_id": 10787,
"hgvs_c": "c.682C>A",
"hgvs_p": "p.Arg228Ser",
"transcript": "ENST00000921622.1",
"protein_id": "ENSP00000591681.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 272,
"cds_start": 682,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921622.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF5",
"gene_hgnc_id": 10787,
"hgvs_c": "c.682C>A",
"hgvs_p": "p.Arg228Ser",
"transcript": "ENST00000921626.1",
"protein_id": "ENSP00000591685.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 272,
"cds_start": 682,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921626.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF5",
"gene_hgnc_id": 10787,
"hgvs_c": "c.682C>A",
"hgvs_p": "p.Arg228Ser",
"transcript": "ENST00000921637.1",
"protein_id": "ENSP00000591696.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 272,
"cds_start": 682,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921637.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF5",
"gene_hgnc_id": 10787,
"hgvs_c": "c.682C>A",
"hgvs_p": "p.Arg228Ser",
"transcript": "ENST00000921640.1",
"protein_id": "ENSP00000591698.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 272,
"cds_start": 682,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921640.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF5",
"gene_hgnc_id": 10787,
"hgvs_c": "c.682C>A",
"hgvs_p": "p.Arg228Ser",
"transcript": "ENST00000960939.1",
"protein_id": "ENSP00000630998.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 272,
"cds_start": 682,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960939.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF5",
"gene_hgnc_id": 10787,
"hgvs_c": "c.679C>A",
"hgvs_p": "p.Arg227Ser",
"transcript": "ENST00000880757.1",
"protein_id": "ENSP00000550816.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 271,
"cds_start": 679,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880757.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF5",
"gene_hgnc_id": 10787,
"hgvs_c": "c.679C>A",
"hgvs_p": "p.Arg227Ser",
"transcript": "ENST00000880759.1",
"protein_id": "ENSP00000550818.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 271,
"cds_start": 679,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880759.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF5",
"gene_hgnc_id": 10787,
"hgvs_c": "c.679C>A",
"hgvs_p": "p.Arg227Ser",
"transcript": "ENST00000880761.1",
"protein_id": "ENSP00000550820.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 271,
"cds_start": 679,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880761.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF5",
"gene_hgnc_id": 10787,
"hgvs_c": "c.679C>A",
"hgvs_p": "p.Arg227Ser",
"transcript": "ENST00000880765.1",
"protein_id": "ENSP00000550824.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 271,
"cds_start": 679,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880765.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF5",
"gene_hgnc_id": 10787,
"hgvs_c": "c.679C>A",
"hgvs_p": "p.Arg227Ser",
"transcript": "ENST00000921621.1",
"protein_id": "ENSP00000591680.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 271,
"cds_start": 679,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921621.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF5",
"gene_hgnc_id": 10787,
"hgvs_c": "c.679C>A",
"hgvs_p": "p.Arg227Ser",
"transcript": "ENST00000921625.1",
"protein_id": "ENSP00000591684.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 271,
"cds_start": 679,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921625.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF5",
"gene_hgnc_id": 10787,
"hgvs_c": "c.679C>A",
"hgvs_p": "p.Arg227Ser",
"transcript": "ENST00000921627.1",
"protein_id": "ENSP00000591686.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 271,
"cds_start": 679,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921627.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF5",
"gene_hgnc_id": 10787,
"hgvs_c": "c.679C>A",
"hgvs_p": "p.Arg227Ser",
"transcript": "ENST00000921630.1",
"protein_id": "ENSP00000591689.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 271,
"cds_start": 679,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921630.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF5",
"gene_hgnc_id": 10787,
"hgvs_c": "c.679C>A",
"hgvs_p": "p.Arg227Ser",
"transcript": "ENST00000921641.1",
"protein_id": "ENSP00000591700.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 271,
"cds_start": 679,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921641.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF5",
"gene_hgnc_id": 10787,
"hgvs_c": "c.676C>A",
"hgvs_p": "p.Arg226Ser",
"transcript": "ENST00000921624.1",
"protein_id": "ENSP00000591683.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 270,
"cds_start": 676,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921624.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF5",
"gene_hgnc_id": 10787,
"hgvs_c": "c.673C>A",
"hgvs_p": "p.Arg225Ser",
"transcript": "ENST00000553635.5",
"protein_id": "ENSP00000451391.1",
"transcript_support_level": 2,
"aa_start": 225,
"aa_end": null,
"aa_length": 269,
"cds_start": 673,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000553635.5"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF5",
"gene_hgnc_id": 10787,
"hgvs_c": "c.673C>A",
"hgvs_p": "p.Arg225Ser",
"transcript": "ENST00000880763.1",
"protein_id": "ENSP00000550822.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 269,
"cds_start": 673,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880763.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF5",
"gene_hgnc_id": 10787,
"hgvs_c": "c.673C>A",
"hgvs_p": "p.Arg225Ser",
"transcript": "ENST00000921628.1",
"protein_id": "ENSP00000591687.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 269,
"cds_start": 673,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921628.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF5",
"gene_hgnc_id": 10787,
"hgvs_c": "c.670C>A",
"hgvs_p": "p.Arg224Ser",
"transcript": "ENST00000921638.1",
"protein_id": "ENSP00000591697.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 268,
"cds_start": 670,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921638.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF5",
"gene_hgnc_id": 10787,
"hgvs_c": "c.583C>A",
"hgvs_p": "p.Arg195Ser",
"transcript": "ENST00000921623.1",
"protein_id": "ENSP00000591682.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 239,
"cds_start": 583,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921623.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF5",
"gene_hgnc_id": 10787,
"hgvs_c": "c.583C>A",
"hgvs_p": "p.Arg195Ser",
"transcript": "ENST00000921629.1",
"protein_id": "ENSP00000591688.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 239,
"cds_start": 583,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921629.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF5",
"gene_hgnc_id": 10787,
"hgvs_c": "c.583C>A",
"hgvs_p": "p.Arg195Ser",
"transcript": "ENST00000921633.1",
"protein_id": "ENSP00000591692.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 239,
"cds_start": 583,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921633.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF5",
"gene_hgnc_id": 10787,
"hgvs_c": "c.583C>A",
"hgvs_p": "p.Arg195Ser",
"transcript": "ENST00000921635.1",
"protein_id": "ENSP00000591694.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 239,
"cds_start": 583,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921635.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF5",
"gene_hgnc_id": 10787,
"hgvs_c": "c.568C>A",
"hgvs_p": "p.Arg190Ser",
"transcript": "ENST00000960938.1",
"protein_id": "ENSP00000630997.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 234,
"cds_start": 568,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960938.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF5",
"gene_hgnc_id": 10787,
"hgvs_c": "c.442C>A",
"hgvs_p": "p.Arg148Ser",
"transcript": "ENST00000880762.1",
"protein_id": "ENSP00000550821.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 192,
"cds_start": 442,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880762.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF5",
"gene_hgnc_id": 10787,
"hgvs_c": "c.442C>A",
"hgvs_p": "p.Arg148Ser",
"transcript": "ENST00000880764.1",
"protein_id": "ENSP00000550823.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 192,
"cds_start": 442,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880764.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF5",
"gene_hgnc_id": 10787,
"hgvs_c": "c.439C>A",
"hgvs_p": "p.Arg147Ser",
"transcript": "ENST00000921634.1",
"protein_id": "ENSP00000591693.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 191,
"cds_start": 439,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921634.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF5",
"gene_hgnc_id": 10787,
"hgvs_c": "c.439C>A",
"hgvs_p": "p.Arg147Ser",
"transcript": "ENST00000960940.1",
"protein_id": "ENSP00000630999.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 191,
"cds_start": 439,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960940.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF5",
"gene_hgnc_id": 10787,
"hgvs_c": "c.679C>A",
"hgvs_p": "p.Arg227Ser",
"transcript": "XM_005267999.3",
"protein_id": "XP_005268056.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 271,
"cds_start": 679,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005267999.3"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF5",
"gene_hgnc_id": 10787,
"hgvs_c": "c.679C>A",
"hgvs_p": "p.Arg227Ser",
"transcript": "XM_005268000.3",
"protein_id": "XP_005268057.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 271,
"cds_start": 679,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005268000.3"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF5",
"gene_hgnc_id": 10787,
"hgvs_c": "c.679C>A",
"hgvs_p": "p.Arg227Ser",
"transcript": "XM_017021593.3",
"protein_id": "XP_016877082.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 271,
"cds_start": 679,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017021593.3"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF5",
"gene_hgnc_id": 10787,
"hgvs_c": "c.583C>A",
"hgvs_p": "p.Arg195Ser",
"transcript": "XM_011537077.4",
"protein_id": "XP_011535379.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 239,
"cds_start": 583,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537077.4"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF5",
"gene_hgnc_id": 10787,
"hgvs_c": "c.583C>A",
"hgvs_p": "p.Arg195Ser",
"transcript": "XM_047431683.1",
"protein_id": "XP_047287639.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 239,
"cds_start": 583,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431683.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF5",
"gene_hgnc_id": 10787,
"hgvs_c": "c.301C>A",
"hgvs_p": "p.Arg101Ser",
"transcript": "XM_017021594.3",
"protein_id": "XP_016877083.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 145,
"cds_start": 301,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017021594.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF5",
"gene_hgnc_id": 10787,
"hgvs_c": "n.356C>A",
"hgvs_p": null,
"transcript": "ENST00000554929.1",
"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": "ENST00000554929.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF5",
"gene_hgnc_id": 10787,
"hgvs_c": "n.*1221C>A",
"hgvs_p": null,
"transcript": "ENST00000555547.5",
"protein_id": "ENSP00000474409.1",
"transcript_support_level": 5,
"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": "ENST00000555547.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF5",
"gene_hgnc_id": 10787,
"hgvs_c": "n.335C>A",
"hgvs_p": null,
"transcript": "ENST00000556647.1",
"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": "pseudogene",
"feature": "ENST00000556647.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF5",
"gene_hgnc_id": 10787,
"hgvs_c": "n.*1221C>A",
"hgvs_p": null,
"transcript": "ENST00000555547.5",
"protein_id": "ENSP00000474409.1",
"transcript_support_level": 5,
"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": "ENST00000555547.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF5",
"gene_hgnc_id": 10787,
"hgvs_c": "n.*67C>A",
"hgvs_p": null,
"transcript": "ENST00000556330.5",
"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": "ENST00000556330.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRSF5",
"gene_hgnc_id": 10787,
"hgvs_c": "n.*216C>A",
"hgvs_p": null,
"transcript": "ENST00000557460.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000557460.5"
}
],
"gene_symbol": "SRSF5",
"gene_hgnc_id": 10787,
"dbsnp": "rs751597035",
"frequency_reference_population": 0.000037794158,
"hom_count_reference_population": 0,
"allele_count_reference_population": 61,
"gnomad_exomes_af": 0.0000403587,
"gnomad_genomes_af": 0.000013148,
"gnomad_exomes_ac": 59,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.32858848571777344,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.149,
"revel_prediction": "Benign",
"alphamissense_score": 0.4352,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.25,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.086,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_006925.5",
"gene_symbol": "SRSF5",
"hgnc_id": 10787,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.682C>A",
"hgvs_p": "p.Arg228Ser"
}
],
"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
}