← 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: 10-80157717-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=80157717&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 80157717,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001157.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.1382G>T",
"hgvs_p": "p.Arg461Leu",
"transcript": "NM_145868.2",
"protein_id": "NP_665875.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 505,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000422982.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145868.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.1382G>T",
"hgvs_p": "p.Arg461Leu",
"transcript": "ENST00000422982.8",
"protein_id": "ENSP00000404412.2",
"transcript_support_level": 1,
"aa_start": 461,
"aa_end": null,
"aa_length": 505,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_145868.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000422982.8"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.1382G>T",
"hgvs_p": "p.Arg461Leu",
"transcript": "ENST00000372231.7",
"protein_id": "ENSP00000361305.3",
"transcript_support_level": 1,
"aa_start": 461,
"aa_end": null,
"aa_length": 505,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372231.7"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.1382G>T",
"hgvs_p": "p.Arg461Leu",
"transcript": "ENST00000438331.5",
"protein_id": "ENSP00000398610.1",
"transcript_support_level": 1,
"aa_start": 461,
"aa_end": null,
"aa_length": 505,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438331.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.1553G>T",
"hgvs_p": "p.Arg518Leu",
"transcript": "ENST00000963279.1",
"protein_id": "ENSP00000633338.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 562,
"cds_start": 1553,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963279.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.1382G>T",
"hgvs_p": "p.Arg461Leu",
"transcript": "ENST00000918176.1",
"protein_id": "ENSP00000588235.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 539,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918176.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.1412G>T",
"hgvs_p": "p.Arg471Leu",
"transcript": "ENST00000963285.1",
"protein_id": "ENSP00000633344.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 515,
"cds_start": 1412,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963285.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.1412G>T",
"hgvs_p": "p.Arg471Leu",
"transcript": "ENST00000963295.1",
"protein_id": "ENSP00000633354.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 515,
"cds_start": 1412,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963295.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.1394G>T",
"hgvs_p": "p.Arg465Leu",
"transcript": "ENST00000856398.1",
"protein_id": "ENSP00000526457.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 509,
"cds_start": 1394,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856398.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.1394G>T",
"hgvs_p": "p.Arg465Leu",
"transcript": "ENST00000918175.1",
"protein_id": "ENSP00000588234.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 509,
"cds_start": 1394,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918175.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.1382G>T",
"hgvs_p": "p.Arg461Leu",
"transcript": "NM_001157.3",
"protein_id": "NP_001148.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 505,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001157.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.1382G>T",
"hgvs_p": "p.Arg461Leu",
"transcript": "NM_001278407.2",
"protein_id": "NP_001265336.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 505,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278407.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.1382G>T",
"hgvs_p": "p.Arg461Leu",
"transcript": "NM_001278408.2",
"protein_id": "NP_001265337.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 505,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278408.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.1382G>T",
"hgvs_p": "p.Arg461Leu",
"transcript": "NM_145869.2",
"protein_id": "NP_665876.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 505,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145869.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.1382G>T",
"hgvs_p": "p.Arg461Leu",
"transcript": "ENST00000856386.1",
"protein_id": "ENSP00000526445.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 505,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856386.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.1382G>T",
"hgvs_p": "p.Arg461Leu",
"transcript": "ENST00000856387.1",
"protein_id": "ENSP00000526446.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 505,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856387.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.1382G>T",
"hgvs_p": "p.Arg461Leu",
"transcript": "ENST00000856388.1",
"protein_id": "ENSP00000526447.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 505,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856388.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.1382G>T",
"hgvs_p": "p.Arg461Leu",
"transcript": "ENST00000856389.1",
"protein_id": "ENSP00000526448.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 505,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856389.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.1382G>T",
"hgvs_p": "p.Arg461Leu",
"transcript": "ENST00000856390.1",
"protein_id": "ENSP00000526449.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 505,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856390.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.1382G>T",
"hgvs_p": "p.Arg461Leu",
"transcript": "ENST00000856391.1",
"protein_id": "ENSP00000526450.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 505,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856391.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.1382G>T",
"hgvs_p": "p.Arg461Leu",
"transcript": "ENST00000856393.1",
"protein_id": "ENSP00000526452.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 505,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856393.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.1382G>T",
"hgvs_p": "p.Arg461Leu",
"transcript": "ENST00000856394.1",
"protein_id": "ENSP00000526453.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 505,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856394.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.1382G>T",
"hgvs_p": "p.Arg461Leu",
"transcript": "ENST00000856396.1",
"protein_id": "ENSP00000526455.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 505,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856396.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.1382G>T",
"hgvs_p": "p.Arg461Leu",
"transcript": "ENST00000856397.1",
"protein_id": "ENSP00000526456.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 505,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856397.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.1382G>T",
"hgvs_p": "p.Arg461Leu",
"transcript": "ENST00000856401.1",
"protein_id": "ENSP00000526460.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 505,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856401.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.1382G>T",
"hgvs_p": "p.Arg461Leu",
"transcript": "ENST00000856402.1",
"protein_id": "ENSP00000526461.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 505,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856402.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.1382G>T",
"hgvs_p": "p.Arg461Leu",
"transcript": "ENST00000856403.1",
"protein_id": "ENSP00000526462.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 505,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856403.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.1382G>T",
"hgvs_p": "p.Arg461Leu",
"transcript": "ENST00000856404.1",
"protein_id": "ENSP00000526463.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 505,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856404.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.1382G>T",
"hgvs_p": "p.Arg461Leu",
"transcript": "ENST00000856405.1",
"protein_id": "ENSP00000526464.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 505,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856405.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.1382G>T",
"hgvs_p": "p.Arg461Leu",
"transcript": "ENST00000856406.1",
"protein_id": "ENSP00000526465.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 505,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856406.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.1382G>T",
"hgvs_p": "p.Arg461Leu",
"transcript": "ENST00000856407.1",
"protein_id": "ENSP00000526466.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 505,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856407.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.1382G>T",
"hgvs_p": "p.Arg461Leu",
"transcript": "ENST00000856409.1",
"protein_id": "ENSP00000526468.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 505,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856409.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.1382G>T",
"hgvs_p": "p.Arg461Leu",
"transcript": "ENST00000856410.1",
"protein_id": "ENSP00000526469.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 505,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856410.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.1382G>T",
"hgvs_p": "p.Arg461Leu",
"transcript": "ENST00000856411.1",
"protein_id": "ENSP00000526470.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 505,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856411.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.1382G>T",
"hgvs_p": "p.Arg461Leu",
"transcript": "ENST00000856412.1",
"protein_id": "ENSP00000526471.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 505,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856412.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.1382G>T",
"hgvs_p": "p.Arg461Leu",
"transcript": "ENST00000856413.1",
"protein_id": "ENSP00000526472.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 505,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856413.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.1382G>T",
"hgvs_p": "p.Arg461Leu",
"transcript": "ENST00000856414.1",
"protein_id": "ENSP00000526473.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 505,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856414.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.1382G>T",
"hgvs_p": "p.Arg461Leu",
"transcript": "ENST00000856415.1",
"protein_id": "ENSP00000526474.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 505,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856415.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.1382G>T",
"hgvs_p": "p.Arg461Leu",
"transcript": "ENST00000963277.1",
"protein_id": "ENSP00000633336.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 505,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963277.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.1382G>T",
"hgvs_p": "p.Arg461Leu",
"transcript": "ENST00000963278.1",
"protein_id": "ENSP00000633337.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 505,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963278.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.1382G>T",
"hgvs_p": "p.Arg461Leu",
"transcript": "ENST00000963281.1",
"protein_id": "ENSP00000633340.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 505,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963281.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.1382G>T",
"hgvs_p": "p.Arg461Leu",
"transcript": "ENST00000963282.1",
"protein_id": "ENSP00000633341.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 505,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963282.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.1382G>T",
"hgvs_p": "p.Arg461Leu",
"transcript": "ENST00000963284.1",
"protein_id": "ENSP00000633343.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 505,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963284.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.1382G>T",
"hgvs_p": "p.Arg461Leu",
"transcript": "ENST00000963286.1",
"protein_id": "ENSP00000633345.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 505,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963286.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.1382G>T",
"hgvs_p": "p.Arg461Leu",
"transcript": "ENST00000963287.1",
"protein_id": "ENSP00000633346.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 505,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963287.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.1382G>T",
"hgvs_p": "p.Arg461Leu",
"transcript": "ENST00000963288.1",
"protein_id": "ENSP00000633347.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 505,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963288.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.1382G>T",
"hgvs_p": "p.Arg461Leu",
"transcript": "ENST00000963290.1",
"protein_id": "ENSP00000633349.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 505,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963290.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.1382G>T",
"hgvs_p": "p.Arg461Leu",
"transcript": "ENST00000963292.1",
"protein_id": "ENSP00000633351.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 505,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963292.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.1382G>T",
"hgvs_p": "p.Arg461Leu",
"transcript": "ENST00000963294.1",
"protein_id": "ENSP00000633353.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 505,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963294.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.1382G>T",
"hgvs_p": "p.Arg461Leu",
"transcript": "ENST00000963296.1",
"protein_id": "ENSP00000633355.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 505,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963296.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.1379G>T",
"hgvs_p": "p.Arg460Leu",
"transcript": "ENST00000963276.1",
"protein_id": "ENSP00000633335.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 504,
"cds_start": 1379,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963276.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.1379G>T",
"hgvs_p": "p.Arg460Leu",
"transcript": "ENST00000963280.1",
"protein_id": "ENSP00000633339.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 504,
"cds_start": 1379,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963280.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.1379G>T",
"hgvs_p": "p.Arg460Leu",
"transcript": "ENST00000963293.1",
"protein_id": "ENSP00000633352.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 504,
"cds_start": 1379,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963293.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.1343G>T",
"hgvs_p": "p.Arg448Leu",
"transcript": "ENST00000963289.1",
"protein_id": "ENSP00000633348.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 492,
"cds_start": 1343,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963289.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.1325G>T",
"hgvs_p": "p.Arg442Leu",
"transcript": "ENST00000963283.1",
"protein_id": "ENSP00000633342.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 486,
"cds_start": 1325,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963283.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.1283G>T",
"hgvs_p": "p.Arg428Leu",
"transcript": "NM_001278409.2",
"protein_id": "NP_001265338.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 472,
"cds_start": 1283,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278409.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.1283G>T",
"hgvs_p": "p.Arg428Leu",
"transcript": "ENST00000265447.8",
"protein_id": "ENSP00000265447.5",
"transcript_support_level": 5,
"aa_start": 428,
"aa_end": null,
"aa_length": 472,
"cds_start": 1283,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265447.8"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.992G>T",
"hgvs_p": "p.Arg331Leu",
"transcript": "ENST00000856395.1",
"protein_id": "ENSP00000526454.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 375,
"cds_start": 992,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856395.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.992G>T",
"hgvs_p": "p.Arg331Leu",
"transcript": "ENST00000856400.1",
"protein_id": "ENSP00000526459.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 375,
"cds_start": 992,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856400.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.809G>T",
"hgvs_p": "p.Arg270Leu",
"transcript": "ENST00000963291.1",
"protein_id": "ENSP00000633350.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 314,
"cds_start": 809,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963291.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.695G>T",
"hgvs_p": "p.Arg232Leu",
"transcript": "ENST00000856392.1",
"protein_id": "ENSP00000526451.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 276,
"cds_start": 695,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856392.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.695G>T",
"hgvs_p": "p.Arg232Leu",
"transcript": "ENST00000856399.1",
"protein_id": "ENSP00000526458.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 276,
"cds_start": 695,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856399.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.278G>T",
"hgvs_p": "p.Arg93Leu",
"transcript": "ENST00000447489.1",
"protein_id": "ENSP00000405009.1",
"transcript_support_level": 3,
"aa_start": 93,
"aa_end": null,
"aa_length": 147,
"cds_start": 278,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447489.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.1682G>T",
"hgvs_p": "p.Arg561Leu",
"transcript": "XM_005269741.5",
"protein_id": "XP_005269798.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 605,
"cds_start": 1682,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005269741.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.1382G>T",
"hgvs_p": "p.Arg461Leu",
"transcript": "XM_005269742.2",
"protein_id": "XP_005269799.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 542,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005269742.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.1382G>T",
"hgvs_p": "p.Arg461Leu",
"transcript": "XM_006717813.3",
"protein_id": "XP_006717876.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 542,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006717813.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.1382G>T",
"hgvs_p": "p.Arg461Leu",
"transcript": "XM_047425140.1",
"protein_id": "XP_047281096.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 542,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425140.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.1382G>T",
"hgvs_p": "p.Arg461Leu",
"transcript": "XM_047425141.1",
"protein_id": "XP_047281097.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 542,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425141.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "c.859-1805G>T",
"hgvs_p": null,
"transcript": "ENST00000856408.1",
"protein_id": "ENSP00000526467.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 305,
"cds_start": null,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856408.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"hgvs_c": "n.52+250G>T",
"hgvs_p": null,
"transcript": "ENST00000463340.1",
"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": "pseudogene",
"feature": "ENST00000463340.1"
}
],
"gene_symbol": "ANXA11",
"gene_hgnc_id": 535,
"dbsnp": "rs961003614",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9764184951782227,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.57,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9891,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.14,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.798,
"phylop100way_prediction": "Pathogenic",
"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_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001157.3",
"gene_symbol": "ANXA11",
"hgnc_id": 535,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1382G>T",
"hgvs_p": "p.Arg461Leu"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}