← 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: X-154508586-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=154508586&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 154508586,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001282311.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3A",
"gene_hgnc_id": 13749,
"hgvs_c": "c.163A>G",
"hgvs_p": "p.Arg55Gly",
"transcript": "NM_021806.4",
"protein_id": "NP_068578.2",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 230,
"cds_start": 163,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000447601.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021806.4"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3A",
"gene_hgnc_id": 13749,
"hgvs_c": "c.163A>G",
"hgvs_p": "p.Arg55Gly",
"transcript": "ENST00000447601.7",
"protein_id": "ENSP00000416146.2",
"transcript_support_level": 1,
"aa_start": 55,
"aa_end": null,
"aa_length": 230,
"cds_start": 163,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_021806.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447601.7"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3A",
"gene_hgnc_id": 13749,
"hgvs_c": "c.163A>G",
"hgvs_p": "p.Arg55Gly",
"transcript": "ENST00000858761.1",
"protein_id": "ENSP00000528820.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 260,
"cds_start": 163,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858761.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3A",
"gene_hgnc_id": 13749,
"hgvs_c": "c.211A>G",
"hgvs_p": "p.Arg71Gly",
"transcript": "ENST00000858759.1",
"protein_id": "ENSP00000528818.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 246,
"cds_start": 211,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858759.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3A",
"gene_hgnc_id": 13749,
"hgvs_c": "c.163A>G",
"hgvs_p": "p.Arg55Gly",
"transcript": "ENST00000858762.1",
"protein_id": "ENSP00000528821.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 246,
"cds_start": 163,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858762.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3A",
"gene_hgnc_id": 13749,
"hgvs_c": "c.205A>G",
"hgvs_p": "p.Arg69Gly",
"transcript": "NM_001282311.2",
"protein_id": "NP_001269240.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 244,
"cds_start": 205,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282311.2"
},
{
"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": "FAM3A",
"gene_hgnc_id": 13749,
"hgvs_c": "c.205A>G",
"hgvs_p": "p.Arg69Gly",
"transcript": "ENST00000322269.10",
"protein_id": "ENSP00000320521.7",
"transcript_support_level": 5,
"aa_start": 69,
"aa_end": null,
"aa_length": 244,
"cds_start": 205,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000322269.10"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3A",
"gene_hgnc_id": 13749,
"hgvs_c": "c.163A>G",
"hgvs_p": "p.Arg55Gly",
"transcript": "ENST00000858758.1",
"protein_id": "ENSP00000528817.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 238,
"cds_start": 163,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858758.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3A",
"gene_hgnc_id": 13749,
"hgvs_c": "c.163A>G",
"hgvs_p": "p.Arg55Gly",
"transcript": "NM_001363822.2",
"protein_id": "NP_001350751.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 237,
"cds_start": 163,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363822.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3A",
"gene_hgnc_id": 13749,
"hgvs_c": "c.163A>G",
"hgvs_p": "p.Arg55Gly",
"transcript": "ENST00000369641.7",
"protein_id": "ENSP00000358655.3",
"transcript_support_level": 5,
"aa_start": 55,
"aa_end": null,
"aa_length": 237,
"cds_start": 163,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369641.7"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3A",
"gene_hgnc_id": 13749,
"hgvs_c": "c.163A>G",
"hgvs_p": "p.Arg55Gly",
"transcript": "ENST00000858755.1",
"protein_id": "ENSP00000528814.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 237,
"cds_start": 163,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858755.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3A",
"gene_hgnc_id": 13749,
"hgvs_c": "c.163A>G",
"hgvs_p": "p.Arg55Gly",
"transcript": "ENST00000959364.1",
"protein_id": "ENSP00000629423.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 237,
"cds_start": 163,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959364.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3A",
"gene_hgnc_id": 13749,
"hgvs_c": "c.163A>G",
"hgvs_p": "p.Arg55Gly",
"transcript": "ENST00000959368.1",
"protein_id": "ENSP00000629427.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 237,
"cds_start": 163,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959368.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3A",
"gene_hgnc_id": 13749,
"hgvs_c": "c.163A>G",
"hgvs_p": "p.Arg55Gly",
"transcript": "NM_001171132.3",
"protein_id": "NP_001164603.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 230,
"cds_start": 163,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171132.3"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3A",
"gene_hgnc_id": 13749,
"hgvs_c": "c.163A>G",
"hgvs_p": "p.Arg55Gly",
"transcript": "NM_001282312.2",
"protein_id": "NP_001269241.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 230,
"cds_start": 163,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282312.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3A",
"gene_hgnc_id": 13749,
"hgvs_c": "c.163A>G",
"hgvs_p": "p.Arg55Gly",
"transcript": "ENST00000359889.9",
"protein_id": "ENSP00000352955.5",
"transcript_support_level": 2,
"aa_start": 55,
"aa_end": null,
"aa_length": 230,
"cds_start": 163,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359889.9"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3A",
"gene_hgnc_id": 13749,
"hgvs_c": "c.163A>G",
"hgvs_p": "p.Arg55Gly",
"transcript": "ENST00000369643.5",
"protein_id": "ENSP00000358657.1",
"transcript_support_level": 2,
"aa_start": 55,
"aa_end": null,
"aa_length": 230,
"cds_start": 163,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369643.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3A",
"gene_hgnc_id": 13749,
"hgvs_c": "c.163A>G",
"hgvs_p": "p.Arg55Gly",
"transcript": "ENST00000858757.1",
"protein_id": "ENSP00000528816.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 230,
"cds_start": 163,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858757.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3A",
"gene_hgnc_id": 13749,
"hgvs_c": "c.163A>G",
"hgvs_p": "p.Arg55Gly",
"transcript": "ENST00000959365.1",
"protein_id": "ENSP00000629424.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 230,
"cds_start": 163,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959365.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3A",
"gene_hgnc_id": 13749,
"hgvs_c": "c.163A>G",
"hgvs_p": "p.Arg55Gly",
"transcript": "ENST00000959366.1",
"protein_id": "ENSP00000629425.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 230,
"cds_start": 163,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959366.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3A",
"gene_hgnc_id": 13749,
"hgvs_c": "c.163A>G",
"hgvs_p": "p.Arg55Gly",
"transcript": "ENST00000959367.1",
"protein_id": "ENSP00000629426.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 230,
"cds_start": 163,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959367.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3A",
"gene_hgnc_id": 13749,
"hgvs_c": "c.139A>G",
"hgvs_p": "p.Arg47Gly",
"transcript": "ENST00000858763.1",
"protein_id": "ENSP00000528822.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 229,
"cds_start": 139,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858763.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3A",
"gene_hgnc_id": 13749,
"hgvs_c": "c.139A>G",
"hgvs_p": "p.Arg47Gly",
"transcript": "ENST00000858760.1",
"protein_id": "ENSP00000528819.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 222,
"cds_start": 139,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858760.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3A",
"gene_hgnc_id": 13749,
"hgvs_c": "c.163A>G",
"hgvs_p": "p.Arg55Gly",
"transcript": "NM_001171134.3",
"protein_id": "NP_001164605.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 213,
"cds_start": 163,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171134.3"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3A",
"gene_hgnc_id": 13749,
"hgvs_c": "c.163A>G",
"hgvs_p": "p.Arg55Gly",
"transcript": "ENST00000419205.5",
"protein_id": "ENSP00000393086.2",
"transcript_support_level": 2,
"aa_start": 55,
"aa_end": null,
"aa_length": 213,
"cds_start": 163,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419205.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3A",
"gene_hgnc_id": 13749,
"hgvs_c": "c.163A>G",
"hgvs_p": "p.Arg55Gly",
"transcript": "ENST00000858756.1",
"protein_id": "ENSP00000528815.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 213,
"cds_start": 163,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858756.1"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3A",
"gene_hgnc_id": 13749,
"hgvs_c": "c.139A>G",
"hgvs_p": "p.Arg47Gly",
"transcript": "ENST00000938531.1",
"protein_id": "ENSP00000608590.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 205,
"cds_start": 139,
"cds_end": null,
"cds_length": 618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938531.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3A",
"gene_hgnc_id": 13749,
"hgvs_c": "c.49A>G",
"hgvs_p": "p.Arg17Gly",
"transcript": "NM_001171133.3",
"protein_id": "NP_001164604.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 192,
"cds_start": 49,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171133.3"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3A",
"gene_hgnc_id": 13749,
"hgvs_c": "c.49A>G",
"hgvs_p": "p.Arg17Gly",
"transcript": "ENST00000393572.5",
"protein_id": "ENSP00000377202.1",
"transcript_support_level": 2,
"aa_start": 17,
"aa_end": null,
"aa_length": 192,
"cds_start": 49,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393572.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3A",
"gene_hgnc_id": 13749,
"hgvs_c": "c.163A>G",
"hgvs_p": "p.Arg55Gly",
"transcript": "ENST00000426266.5",
"protein_id": "ENSP00000396845.1",
"transcript_support_level": 3,
"aa_start": 55,
"aa_end": null,
"aa_length": 162,
"cds_start": 163,
"cds_end": null,
"cds_length": 491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426266.5"
},
{
"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": "FAM3A",
"gene_hgnc_id": 13749,
"hgvs_c": "c.49A>G",
"hgvs_p": "p.Arg17Gly",
"transcript": "ENST00000442929.1",
"protein_id": "ENSP00000408973.1",
"transcript_support_level": 3,
"aa_start": 17,
"aa_end": null,
"aa_length": 20,
"cds_start": 49,
"cds_end": null,
"cds_length": 63,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000442929.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3A",
"gene_hgnc_id": 13749,
"hgvs_c": "c.205A>G",
"hgvs_p": "p.Arg69Gly",
"transcript": "XM_024452416.2",
"protein_id": "XP_024308184.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 251,
"cds_start": 205,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452416.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3A",
"gene_hgnc_id": 13749,
"hgvs_c": "c.163A>G",
"hgvs_p": "p.Arg55Gly",
"transcript": "XM_006724832.4",
"protein_id": "XP_006724895.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 238,
"cds_start": 163,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006724832.4"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3A",
"gene_hgnc_id": 13749,
"hgvs_c": "c.205A>G",
"hgvs_p": "p.Arg69Gly",
"transcript": "XM_024452418.2",
"protein_id": "XP_024308186.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 227,
"cds_start": 205,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452418.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3A",
"gene_hgnc_id": 13749,
"hgvs_c": "c.163A>G",
"hgvs_p": "p.Arg55Gly",
"transcript": "XM_005277879.5",
"protein_id": "XP_005277936.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 213,
"cds_start": 163,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005277879.5"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3A",
"gene_hgnc_id": 13749,
"hgvs_c": "c.40A>G",
"hgvs_p": "p.Arg14Gly",
"transcript": "XM_047442293.1",
"protein_id": "XP_047298249.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 197,
"cds_start": 40,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442293.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3A",
"gene_hgnc_id": 13749,
"hgvs_c": "n.*143A>G",
"hgvs_p": null,
"transcript": "ENST00000412894.5",
"protein_id": "ENSP00000397396.1",
"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": "ENST00000412894.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3A",
"gene_hgnc_id": 13749,
"hgvs_c": "n.*143A>G",
"hgvs_p": null,
"transcript": "ENST00000416319.5",
"protein_id": "ENSP00000415843.1",
"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": "ENST00000416319.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3A",
"gene_hgnc_id": 13749,
"hgvs_c": "n.*103A>G",
"hgvs_p": null,
"transcript": "ENST00000421517.5",
"protein_id": "ENSP00000406340.1",
"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": "ENST00000421517.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3A",
"gene_hgnc_id": 13749,
"hgvs_c": "n.*48A>G",
"hgvs_p": null,
"transcript": "ENST00000434658.6",
"protein_id": "ENSP00000396243.3",
"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": "ENST00000434658.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3A",
"gene_hgnc_id": 13749,
"hgvs_c": "n.*48A>G",
"hgvs_p": null,
"transcript": "ENST00000449971.5",
"protein_id": "ENSP00000404171.1",
"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": "ENST00000449971.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3A",
"gene_hgnc_id": 13749,
"hgvs_c": "n.*56A>G",
"hgvs_p": null,
"transcript": "ENST00000457212.5",
"protein_id": "ENSP00000407870.1",
"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": "ENST00000457212.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "FAM3A",
"gene_hgnc_id": 13749,
"hgvs_c": "n.435A>G",
"hgvs_p": null,
"transcript": "ENST00000497506.5",
"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": "ENST00000497506.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3A",
"gene_hgnc_id": 13749,
"hgvs_c": "n.2827A>G",
"hgvs_p": null,
"transcript": "ENST00000612856.4",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000612856.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3A",
"gene_hgnc_id": 13749,
"hgvs_c": "n.*48A>G",
"hgvs_p": null,
"transcript": "ENST00000621967.4",
"protein_id": "ENSP00000478650.1",
"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": "ENST00000621967.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3A",
"gene_hgnc_id": 13749,
"hgvs_c": "n.*143A>G",
"hgvs_p": null,
"transcript": "ENST00000412894.5",
"protein_id": "ENSP00000397396.1",
"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": "ENST00000412894.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3A",
"gene_hgnc_id": 13749,
"hgvs_c": "n.*143A>G",
"hgvs_p": null,
"transcript": "ENST00000416319.5",
"protein_id": "ENSP00000415843.1",
"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": "ENST00000416319.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3A",
"gene_hgnc_id": 13749,
"hgvs_c": "n.*103A>G",
"hgvs_p": null,
"transcript": "ENST00000421517.5",
"protein_id": "ENSP00000406340.1",
"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": "ENST00000421517.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3A",
"gene_hgnc_id": 13749,
"hgvs_c": "n.*48A>G",
"hgvs_p": null,
"transcript": "ENST00000434658.6",
"protein_id": "ENSP00000396243.3",
"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": "ENST00000434658.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3A",
"gene_hgnc_id": 13749,
"hgvs_c": "n.*48A>G",
"hgvs_p": null,
"transcript": "ENST00000449971.5",
"protein_id": "ENSP00000404171.1",
"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": "ENST00000449971.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3A",
"gene_hgnc_id": 13749,
"hgvs_c": "n.*56A>G",
"hgvs_p": null,
"transcript": "ENST00000457212.5",
"protein_id": "ENSP00000407870.1",
"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": "ENST00000457212.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3A",
"gene_hgnc_id": 13749,
"hgvs_c": "n.*48A>G",
"hgvs_p": null,
"transcript": "ENST00000621967.4",
"protein_id": "ENSP00000478650.1",
"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": "ENST00000621967.4"
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FAM3A",
"gene_hgnc_id": 13749,
"hgvs_c": "n.152-239A>G",
"hgvs_p": null,
"transcript": "ENST00000440318.5",
"protein_id": "ENSP00000401367.1",
"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": "ENST00000440318.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM3A",
"gene_hgnc_id": 13749,
"hgvs_c": "n.*183A>G",
"hgvs_p": null,
"transcript": "ENST00000492763.1",
"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": "ENST00000492763.1"
}
],
"gene_symbol": "FAM3A",
"gene_hgnc_id": 13749,
"dbsnp": "rs929283877",
"frequency_reference_population": 0.00000840173,
"hom_count_reference_population": 3,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.0000037137,
"gnomad_genomes_af": 0.0000530326,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1640811562538147,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.116,
"revel_prediction": "Benign",
"alphamissense_score": 0.1605,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.962,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001282311.2",
"gene_symbol": "FAM3A",
"hgnc_id": 13749,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.205A>G",
"hgvs_p": "p.Arg69Gly"
}
],
"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
}