← 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: 10-59264100-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=59264100&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 59264100,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_198215.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13C",
"gene_hgnc_id": 19371,
"hgvs_c": "c.1009C>G",
"hgvs_p": "p.Arg337Gly",
"transcript": "NM_198215.4",
"protein_id": "NP_937858.2",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 585,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000618804.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198215.4"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13C",
"gene_hgnc_id": 19371,
"hgvs_c": "c.1009C>G",
"hgvs_p": "p.Arg337Gly",
"transcript": "ENST00000618804.5",
"protein_id": "ENSP00000481854.1",
"transcript_support_level": 1,
"aa_start": 337,
"aa_end": null,
"aa_length": 585,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_198215.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000618804.5"
},
{
"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": 12,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "FAM13C",
"gene_hgnc_id": 19371,
"hgvs_c": "c.942+4453C>G",
"hgvs_p": null,
"transcript": "ENST00000611933.4",
"protein_id": "ENSP00000481830.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 487,
"cds_start": null,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000611933.4"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13C",
"gene_hgnc_id": 19371,
"hgvs_c": "c.1009C>G",
"hgvs_p": "p.Arg337Gly",
"transcript": "ENST00000951024.1",
"protein_id": "ENSP00000621083.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 607,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951024.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13C",
"gene_hgnc_id": 19371,
"hgvs_c": "c.1072C>G",
"hgvs_p": "p.Arg358Gly",
"transcript": "ENST00000614220.4",
"protein_id": "ENSP00000483510.1",
"transcript_support_level": 5,
"aa_start": 358,
"aa_end": null,
"aa_length": 606,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000614220.4"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13C",
"gene_hgnc_id": 19371,
"hgvs_c": "c.1072C>G",
"hgvs_p": "p.Arg358Gly",
"transcript": "ENST00000621119.4",
"protein_id": "ENSP00000484625.1",
"transcript_support_level": 5,
"aa_start": 358,
"aa_end": null,
"aa_length": 605,
"cds_start": 1072,
"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": "ENST00000621119.4"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13C",
"gene_hgnc_id": 19371,
"hgvs_c": "c.1009C>G",
"hgvs_p": "p.Arg337Gly",
"transcript": "ENST00000951023.1",
"protein_id": "ENSP00000621082.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 589,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951023.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13C",
"gene_hgnc_id": 19371,
"hgvs_c": "c.1009C>G",
"hgvs_p": "p.Arg337Gly",
"transcript": "NM_001347852.2",
"protein_id": "NP_001334781.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 573,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347852.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13C",
"gene_hgnc_id": 19371,
"hgvs_c": "c.1009C>G",
"hgvs_p": "p.Arg337Gly",
"transcript": "ENST00000435852.6",
"protein_id": "ENSP00000392302.2",
"transcript_support_level": 2,
"aa_start": 337,
"aa_end": null,
"aa_length": 573,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000435852.6"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13C",
"gene_hgnc_id": 19371,
"hgvs_c": "c.1009C>G",
"hgvs_p": "p.Arg337Gly",
"transcript": "NM_001347849.2",
"protein_id": "NP_001334778.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 572,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347849.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13C",
"gene_hgnc_id": 19371,
"hgvs_c": "c.760C>G",
"hgvs_p": "p.Arg254Gly",
"transcript": "NM_001143773.1",
"protein_id": "NP_001137245.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 502,
"cds_start": 760,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001143773.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13C",
"gene_hgnc_id": 19371,
"hgvs_c": "c.760C>G",
"hgvs_p": "p.Arg254Gly",
"transcript": "NM_001347840.2",
"protein_id": "NP_001334769.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 502,
"cds_start": 760,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347840.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13C",
"gene_hgnc_id": 19371,
"hgvs_c": "c.760C>G",
"hgvs_p": "p.Arg254Gly",
"transcript": "NM_001347847.1",
"protein_id": "NP_001334776.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 502,
"cds_start": 760,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347847.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13C",
"gene_hgnc_id": 19371,
"hgvs_c": "c.760C>G",
"hgvs_p": "p.Arg254Gly",
"transcript": "ENST00000468840.6",
"protein_id": "ENSP00000423896.1",
"transcript_support_level": 2,
"aa_start": 254,
"aa_end": null,
"aa_length": 502,
"cds_start": 760,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000468840.6"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13C",
"gene_hgnc_id": 19371,
"hgvs_c": "c.760C>G",
"hgvs_p": "p.Arg254Gly",
"transcript": "NM_001166698.2",
"protein_id": "NP_001160170.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 501,
"cds_start": 760,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166698.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13C",
"gene_hgnc_id": 19371,
"hgvs_c": "c.760C>G",
"hgvs_p": "p.Arg254Gly",
"transcript": "NM_001347842.2",
"protein_id": "NP_001334771.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 501,
"cds_start": 760,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347842.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13C",
"gene_hgnc_id": 19371,
"hgvs_c": "c.760C>G",
"hgvs_p": "p.Arg254Gly",
"transcript": "NM_001347844.1",
"protein_id": "NP_001334773.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 501,
"cds_start": 760,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347844.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13C",
"gene_hgnc_id": 19371,
"hgvs_c": "c.760C>G",
"hgvs_p": "p.Arg254Gly",
"transcript": "ENST00000618427.4",
"protein_id": "ENSP00000480677.1",
"transcript_support_level": 2,
"aa_start": 254,
"aa_end": null,
"aa_length": 501,
"cds_start": 760,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000618427.4"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13C",
"gene_hgnc_id": 19371,
"hgvs_c": "c.733C>G",
"hgvs_p": "p.Arg245Gly",
"transcript": "NM_001347848.1",
"protein_id": "NP_001334777.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 492,
"cds_start": 733,
"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": "NM_001347848.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13C",
"gene_hgnc_id": 19371,
"hgvs_c": "c.733C>G",
"hgvs_p": "p.Arg245Gly",
"transcript": "NM_001347850.2",
"protein_id": "NP_001334779.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 492,
"cds_start": 733,
"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": "NM_001347850.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13C",
"gene_hgnc_id": 19371,
"hgvs_c": "c.760C>G",
"hgvs_p": "p.Arg254Gly",
"transcript": "NM_001347846.1",
"protein_id": "NP_001334775.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 490,
"cds_start": 760,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347846.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13C",
"gene_hgnc_id": 19371,
"hgvs_c": "c.760C>G",
"hgvs_p": "p.Arg254Gly",
"transcript": "NM_001347851.2",
"protein_id": "NP_001334780.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 490,
"cds_start": 760,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347851.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13C",
"gene_hgnc_id": 19371,
"hgvs_c": "c.1009C>G",
"hgvs_p": "p.Arg337Gly",
"transcript": "ENST00000422313.6",
"protein_id": "ENSP00000400241.2",
"transcript_support_level": 5,
"aa_start": 337,
"aa_end": null,
"aa_length": 458,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000422313.6"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13C",
"gene_hgnc_id": 19371,
"hgvs_c": "c.343C>G",
"hgvs_p": "p.Arg115Gly",
"transcript": "ENST00000468696.1",
"protein_id": "ENSP00000445068.1",
"transcript_support_level": 2,
"aa_start": 115,
"aa_end": null,
"aa_length": 134,
"cds_start": 343,
"cds_end": null,
"cds_length": 405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000468696.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13C",
"gene_hgnc_id": 19371,
"hgvs_c": "c.1009C>G",
"hgvs_p": "p.Arg337Gly",
"transcript": "XM_005269618.5",
"protein_id": "XP_005269675.2",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 584,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005269618.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13C",
"gene_hgnc_id": 19371,
"hgvs_c": "c.760C>G",
"hgvs_p": "p.Arg254Gly",
"transcript": "XM_006717702.4",
"protein_id": "XP_006717765.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 502,
"cds_start": 760,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006717702.4"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13C",
"gene_hgnc_id": 19371,
"hgvs_c": "c.760C>G",
"hgvs_p": "p.Arg254Gly",
"transcript": "XM_017015886.2",
"protein_id": "XP_016871375.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 501,
"cds_start": 760,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015886.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13C",
"gene_hgnc_id": 19371,
"hgvs_c": "c.733C>G",
"hgvs_p": "p.Arg245Gly",
"transcript": "XM_047424761.1",
"protein_id": "XP_047280717.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 493,
"cds_start": 733,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424761.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13C",
"gene_hgnc_id": 19371,
"hgvs_c": "c.211C>G",
"hgvs_p": "p.Arg71Gly",
"transcript": "XM_024447880.2",
"protein_id": "XP_024303648.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 319,
"cds_start": 211,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447880.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13C",
"gene_hgnc_id": 19371,
"hgvs_c": "c.211C>G",
"hgvs_p": "p.Arg71Gly",
"transcript": "XM_024447881.2",
"protein_id": "XP_024303649.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 318,
"cds_start": 211,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447881.2"
},
{
"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": 12,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "FAM13C",
"gene_hgnc_id": 19371,
"hgvs_c": "c.942+4453C>G",
"hgvs_p": null,
"transcript": "NM_001001971.3",
"protein_id": "NP_001001971.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 487,
"cds_start": null,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001001971.3"
},
{
"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": 12,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "FAM13C",
"gene_hgnc_id": 19371,
"hgvs_c": "c.942+4453C>G",
"hgvs_p": null,
"transcript": "ENST00000920262.1",
"protein_id": "ENSP00000590321.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 486,
"cds_start": null,
"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": "ENST00000920262.1"
},
{
"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": 13,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "FAM13C",
"gene_hgnc_id": 19371,
"hgvs_c": "c.693+4453C>G",
"hgvs_p": null,
"transcript": "NM_001347845.1",
"protein_id": "NP_001334774.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 403,
"cds_start": null,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347845.1"
},
{
"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": 15,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "FAM13C",
"gene_hgnc_id": 19371,
"hgvs_c": "c.666+4453C>G",
"hgvs_p": null,
"transcript": "NM_001347843.1",
"protein_id": "NP_001334772.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 395,
"cds_start": null,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347843.1"
},
{
"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": 12,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "FAM13C",
"gene_hgnc_id": 19371,
"hgvs_c": "c.942+4453C>G",
"hgvs_p": null,
"transcript": "XM_005269619.5",
"protein_id": "XP_005269676.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 486,
"cds_start": null,
"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": "XM_005269619.5"
},
{
"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": 13,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "FAM13C",
"gene_hgnc_id": 19371,
"hgvs_c": "c.693+4453C>G",
"hgvs_p": null,
"transcript": "XM_017015891.2",
"protein_id": "XP_016871380.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 404,
"cds_start": null,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015891.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13C",
"gene_hgnc_id": 19371,
"hgvs_c": "n.*941C>G",
"hgvs_p": null,
"transcript": "ENST00000622363.4",
"protein_id": "ENSP00000484539.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000622363.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM13C",
"gene_hgnc_id": 19371,
"hgvs_c": "n.*941C>G",
"hgvs_p": null,
"transcript": "ENST00000622363.4",
"protein_id": "ENSP00000484539.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000622363.4"
},
{
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FAM13C",
"gene_hgnc_id": 19371,
"hgvs_c": "n.140-9657C>G",
"hgvs_p": null,
"transcript": "ENST00000489341.5",
"protein_id": "ENSP00000484217.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000489341.5"
}
],
"gene_symbol": "FAM13C",
"gene_hgnc_id": 19371,
"dbsnp": "rs137976326",
"frequency_reference_population": 0.0000034259763,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000342598,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8263057470321655,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.732,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9688,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.31,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.892,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.06,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_198215.4",
"gene_symbol": "FAM13C",
"hgnc_id": 19371,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1009C>G",
"hgvs_p": "p.Arg337Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}