← 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: 7-100884407-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=100884407&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 100884407,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_015908.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Arg266His",
"transcript": "NM_015908.6",
"protein_id": "NP_056992.4",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 876,
"cds_start": 797,
"cds_end": null,
"cds_length": 2631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000611405.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015908.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Arg266His",
"transcript": "ENST00000611405.5",
"protein_id": "ENSP00000480421.1",
"transcript_support_level": 1,
"aa_start": 266,
"aa_end": null,
"aa_length": 876,
"cds_start": 797,
"cds_end": null,
"cds_length": 2631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015908.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000611405.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Arg266His",
"transcript": "ENST00000614484.4",
"protein_id": "ENSP00000481173.1",
"transcript_support_level": 1,
"aa_start": 266,
"aa_end": null,
"aa_length": 875,
"cds_start": 797,
"cds_end": null,
"cds_length": 2628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000614484.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Arg266His",
"transcript": "ENST00000618262.4",
"protein_id": "ENSP00000478341.1",
"transcript_support_level": 1,
"aa_start": 266,
"aa_end": null,
"aa_length": 872,
"cds_start": 797,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000618262.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Arg266His",
"transcript": "ENST00000618411.4",
"protein_id": "ENSP00000483556.1",
"transcript_support_level": 1,
"aa_start": 266,
"aa_end": null,
"aa_length": 871,
"cds_start": 797,
"cds_end": null,
"cds_length": 2616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000618411.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"hgvs_c": "c.917G>A",
"hgvs_p": "p.Arg306His",
"transcript": "ENST00000965064.1",
"protein_id": "ENSP00000635123.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 916,
"cds_start": 917,
"cds_end": null,
"cds_length": 2751,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965064.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"hgvs_c": "c.917G>A",
"hgvs_p": "p.Arg306His",
"transcript": "ENST00000965072.1",
"protein_id": "ENSP00000635131.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 915,
"cds_start": 917,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965072.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"hgvs_c": "c.917G>A",
"hgvs_p": "p.Arg306His",
"transcript": "ENST00000965069.1",
"protein_id": "ENSP00000635128.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 912,
"cds_start": 917,
"cds_end": null,
"cds_length": 2739,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965069.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"hgvs_c": "c.917G>A",
"hgvs_p": "p.Arg306His",
"transcript": "ENST00000860835.1",
"protein_id": "ENSP00000530894.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 911,
"cds_start": 917,
"cds_end": null,
"cds_length": 2736,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860835.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"hgvs_c": "c.869G>A",
"hgvs_p": "p.Arg290His",
"transcript": "ENST00000860837.1",
"protein_id": "ENSP00000530896.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 900,
"cds_start": 869,
"cds_end": null,
"cds_length": 2703,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860837.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"hgvs_c": "c.869G>A",
"hgvs_p": "p.Arg290His",
"transcript": "ENST00000860834.1",
"protein_id": "ENSP00000530893.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 899,
"cds_start": 869,
"cds_end": null,
"cds_length": 2700,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860834.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"hgvs_c": "c.869G>A",
"hgvs_p": "p.Arg290His",
"transcript": "ENST00000965067.1",
"protein_id": "ENSP00000635126.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 896,
"cds_start": 869,
"cds_end": null,
"cds_length": 2691,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965067.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Arg266His",
"transcript": "ENST00000965065.1",
"protein_id": "ENSP00000635124.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 876,
"cds_start": 797,
"cds_end": null,
"cds_length": 2631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965065.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Arg266His",
"transcript": "ENST00000965074.1",
"protein_id": "ENSP00000635133.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 876,
"cds_start": 797,
"cds_end": null,
"cds_length": 2631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965074.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Arg266His",
"transcript": "NM_001128852.2",
"protein_id": "NP_001122324.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 875,
"cds_start": 797,
"cds_end": null,
"cds_length": 2628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001128852.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Arg266His",
"transcript": "ENST00000860839.1",
"protein_id": "ENSP00000530898.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 875,
"cds_start": 797,
"cds_end": null,
"cds_length": 2628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860839.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Arg266His",
"transcript": "ENST00000935246.1",
"protein_id": "ENSP00000605305.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 875,
"cds_start": 797,
"cds_end": null,
"cds_length": 2628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935246.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Arg266His",
"transcript": "ENST00000965068.1",
"protein_id": "ENSP00000635127.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 875,
"cds_start": 797,
"cds_end": null,
"cds_length": 2628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965068.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Arg266His",
"transcript": "NM_001128853.2",
"protein_id": "NP_001122325.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 872,
"cds_start": 797,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001128853.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Arg266His",
"transcript": "ENST00000935251.1",
"protein_id": "ENSP00000605310.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 872,
"cds_start": 797,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935251.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Arg266His",
"transcript": "ENST00000965071.1",
"protein_id": "ENSP00000635130.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 872,
"cds_start": 797,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965071.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Arg266His",
"transcript": "NM_001128854.2",
"protein_id": "NP_001122326.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 871,
"cds_start": 797,
"cds_end": null,
"cds_length": 2616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001128854.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Arg266His",
"transcript": "ENST00000965073.1",
"protein_id": "ENSP00000635132.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 871,
"cds_start": 797,
"cds_end": null,
"cds_length": 2616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965073.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Arg266His",
"transcript": "ENST00000860833.1",
"protein_id": "ENSP00000530892.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 868,
"cds_start": 797,
"cds_end": null,
"cds_length": 2607,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860833.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"hgvs_c": "c.788G>A",
"hgvs_p": "p.Arg263His",
"transcript": "ENST00000860838.1",
"protein_id": "ENSP00000530897.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 868,
"cds_start": 788,
"cds_end": null,
"cds_length": 2607,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860838.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Arg266His",
"transcript": "ENST00000935245.1",
"protein_id": "ENSP00000605304.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 865,
"cds_start": 797,
"cds_end": null,
"cds_length": 2598,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935245.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Arg266His",
"transcript": "ENST00000935247.1",
"protein_id": "ENSP00000605306.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 864,
"cds_start": 797,
"cds_end": null,
"cds_length": 2595,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935247.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Arg266His",
"transcript": "ENST00000935249.1",
"protein_id": "ENSP00000605308.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 845,
"cds_start": 797,
"cds_end": null,
"cds_length": 2538,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935249.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Arg266His",
"transcript": "ENST00000935250.1",
"protein_id": "ENSP00000605309.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 844,
"cds_start": 797,
"cds_end": null,
"cds_length": 2535,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935250.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"hgvs_c": "c.650G>A",
"hgvs_p": "p.Arg217His",
"transcript": "ENST00000860836.1",
"protein_id": "ENSP00000530895.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 827,
"cds_start": 650,
"cds_end": null,
"cds_length": 2484,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860836.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"hgvs_c": "c.650G>A",
"hgvs_p": "p.Arg217His",
"transcript": "ENST00000860832.1",
"protein_id": "ENSP00000530891.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 826,
"cds_start": 650,
"cds_end": null,
"cds_length": 2481,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860832.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"hgvs_c": "c.650G>A",
"hgvs_p": "p.Arg217His",
"transcript": "ENST00000935248.1",
"protein_id": "ENSP00000605307.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 823,
"cds_start": 650,
"cds_end": null,
"cds_length": 2472,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935248.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"hgvs_c": "c.608G>A",
"hgvs_p": "p.Arg203His",
"transcript": "ENST00000965070.1",
"protein_id": "ENSP00000635129.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 813,
"cds_start": 608,
"cds_end": null,
"cds_length": 2442,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965070.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"hgvs_c": "c.818G>A",
"hgvs_p": "p.Arg273His",
"transcript": "XM_005250405.3",
"protein_id": "XP_005250462.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 883,
"cds_start": 818,
"cds_end": null,
"cds_length": 2652,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005250405.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"hgvs_c": "c.818G>A",
"hgvs_p": "p.Arg273His",
"transcript": "XM_005250406.3",
"protein_id": "XP_005250463.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 882,
"cds_start": 818,
"cds_end": null,
"cds_length": 2649,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005250406.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"hgvs_c": "c.818G>A",
"hgvs_p": "p.Arg273His",
"transcript": "XM_005250407.3",
"protein_id": "XP_005250464.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 879,
"cds_start": 818,
"cds_end": null,
"cds_length": 2640,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005250407.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"hgvs_c": "c.818G>A",
"hgvs_p": "p.Arg273His",
"transcript": "XM_005250408.2",
"protein_id": "XP_005250465.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 878,
"cds_start": 818,
"cds_end": null,
"cds_length": 2637,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005250408.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"hgvs_c": "c.560G>A",
"hgvs_p": "p.Arg187His",
"transcript": "XM_047420459.1",
"protein_id": "XP_047276415.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 793,
"cds_start": 560,
"cds_end": null,
"cds_length": 2382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420459.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"hgvs_c": "c.560G>A",
"hgvs_p": "p.Arg187His",
"transcript": "XM_047420460.1",
"protein_id": "XP_047276416.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 792,
"cds_start": 560,
"cds_end": null,
"cds_length": 2379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420460.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"hgvs_c": "c.568-1327G>A",
"hgvs_p": null,
"transcript": "ENST00000965066.1",
"protein_id": "ENSP00000635125.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 615,
"cds_start": null,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965066.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"hgvs_c": "n.581G>A",
"hgvs_p": null,
"transcript": "ENST00000474896.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000474896.1"
},
{
"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": "SRRT",
"gene_hgnc_id": 24101,
"hgvs_c": "n.*663G>A",
"hgvs_p": null,
"transcript": "ENST00000423692.5",
"protein_id": "ENSP00000396807.1",
"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": "ENST00000423692.5"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"hgvs_c": "n.*970G>A",
"hgvs_p": null,
"transcript": "ENST00000641476.1",
"protein_id": "ENSP00000492916.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000641476.1"
}
],
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"dbsnp": "rs775122762",
"frequency_reference_population": 0.0000054738657,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000547387,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.25998201966285706,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.383,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1075,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.23,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.644,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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_015908.6",
"gene_symbol": "SRRT",
"hgnc_id": 24101,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Arg266His"
}
],
"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
}