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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: 19-35164224-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=35164224&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 35164224,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001320912.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXYD5",
"gene_hgnc_id": 4029,
"hgvs_c": "c.361C>T",
"hgvs_p": "p.Pro121Ser",
"transcript": "NM_014164.6",
"protein_id": "NP_054883.3",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 178,
"cds_start": 361,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000392219.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014164.6"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXYD5",
"gene_hgnc_id": 4029,
"hgvs_c": "c.361C>T",
"hgvs_p": "p.Pro121Ser",
"transcript": "ENST00000392219.7",
"protein_id": "ENSP00000376053.2",
"transcript_support_level": 1,
"aa_start": 121,
"aa_end": null,
"aa_length": 178,
"cds_start": 361,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014164.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392219.7"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXYD5",
"gene_hgnc_id": 4029,
"hgvs_c": "c.361C>T",
"hgvs_p": "p.Pro121Ser",
"transcript": "ENST00000342879.7",
"protein_id": "ENSP00000344254.3",
"transcript_support_level": 1,
"aa_start": 121,
"aa_end": null,
"aa_length": 178,
"cds_start": 361,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000342879.7"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXYD5",
"gene_hgnc_id": 4029,
"hgvs_c": "c.148C>T",
"hgvs_p": "p.Pro50Ser",
"transcript": "ENST00000392217.3",
"protein_id": "ENSP00000376051.3",
"transcript_support_level": 1,
"aa_start": 50,
"aa_end": null,
"aa_length": 107,
"cds_start": 148,
"cds_end": null,
"cds_length": 324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392217.3"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXYD5",
"gene_hgnc_id": 4029,
"hgvs_c": "c.361C>T",
"hgvs_p": "p.Pro121Ser",
"transcript": "ENST00000718431.1",
"protein_id": "ENSP00000520816.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 275,
"cds_start": 361,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000718431.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXYD5",
"gene_hgnc_id": 4029,
"hgvs_c": "c.487C>T",
"hgvs_p": "p.Pro163Ser",
"transcript": "ENST00000922560.1",
"protein_id": "ENSP00000592619.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 220,
"cds_start": 487,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922560.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXYD5",
"gene_hgnc_id": 4029,
"hgvs_c": "c.361C>T",
"hgvs_p": "p.Pro121Ser",
"transcript": "NM_001320912.2",
"protein_id": "NP_001307841.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 194,
"cds_start": 361,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320912.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXYD5",
"gene_hgnc_id": 4029,
"hgvs_c": "c.361C>T",
"hgvs_p": "p.Pro121Ser",
"transcript": "ENST00000543307.5",
"protein_id": "ENSP00000444839.1",
"transcript_support_level": 2,
"aa_start": 121,
"aa_end": null,
"aa_length": 194,
"cds_start": 361,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543307.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXYD5",
"gene_hgnc_id": 4029,
"hgvs_c": "c.361C>T",
"hgvs_p": "p.Pro121Ser",
"transcript": "ENST00000588699.5",
"protein_id": "ENSP00000467053.1",
"transcript_support_level": 5,
"aa_start": 121,
"aa_end": null,
"aa_length": 194,
"cds_start": 361,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000588699.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXYD5",
"gene_hgnc_id": 4029,
"hgvs_c": "c.361C>T",
"hgvs_p": "p.Pro121Ser",
"transcript": "NM_001164605.2",
"protein_id": "NP_001158077.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 178,
"cds_start": 361,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001164605.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXYD5",
"gene_hgnc_id": 4029,
"hgvs_c": "c.361C>T",
"hgvs_p": "p.Pro121Ser",
"transcript": "NM_144779.3",
"protein_id": "NP_659003.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 178,
"cds_start": 361,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_144779.3"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXYD5",
"gene_hgnc_id": 4029,
"hgvs_c": "c.361C>T",
"hgvs_p": "p.Pro121Ser",
"transcript": "ENST00000423817.7",
"protein_id": "ENSP00000393848.2",
"transcript_support_level": 2,
"aa_start": 121,
"aa_end": null,
"aa_length": 178,
"cds_start": 361,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423817.7"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXYD5",
"gene_hgnc_id": 4029,
"hgvs_c": "c.361C>T",
"hgvs_p": "p.Pro121Ser",
"transcript": "ENST00000541435.6",
"protein_id": "ENSP00000443390.1",
"transcript_support_level": 2,
"aa_start": 121,
"aa_end": null,
"aa_length": 178,
"cds_start": 361,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541435.6"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXYD5",
"gene_hgnc_id": 4029,
"hgvs_c": "c.361C>T",
"hgvs_p": "p.Pro121Ser",
"transcript": "ENST00000590686.5",
"protein_id": "ENSP00000465667.1",
"transcript_support_level": 3,
"aa_start": 121,
"aa_end": null,
"aa_length": 178,
"cds_start": 361,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590686.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXYD5",
"gene_hgnc_id": 4029,
"hgvs_c": "c.361C>T",
"hgvs_p": "p.Pro121Ser",
"transcript": "ENST00000876483.1",
"protein_id": "ENSP00000546542.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 178,
"cds_start": 361,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876483.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXYD5",
"gene_hgnc_id": 4029,
"hgvs_c": "c.361C>T",
"hgvs_p": "p.Pro121Ser",
"transcript": "ENST00000876484.1",
"protein_id": "ENSP00000546543.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 178,
"cds_start": 361,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876484.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXYD5",
"gene_hgnc_id": 4029,
"hgvs_c": "c.361C>T",
"hgvs_p": "p.Pro121Ser",
"transcript": "ENST00000922561.1",
"protein_id": "ENSP00000592620.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 178,
"cds_start": 361,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922561.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXYD5",
"gene_hgnc_id": 4029,
"hgvs_c": "c.361C>T",
"hgvs_p": "p.Pro121Ser",
"transcript": "ENST00000922572.1",
"protein_id": "ENSP00000592631.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 178,
"cds_start": 361,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922572.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXYD5",
"gene_hgnc_id": 4029,
"hgvs_c": "c.361C>T",
"hgvs_p": "p.Pro121Ser",
"transcript": "ENST00000922576.1",
"protein_id": "ENSP00000592635.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 178,
"cds_start": 361,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922576.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXYD5",
"gene_hgnc_id": 4029,
"hgvs_c": "c.355C>T",
"hgvs_p": "p.Pro119Ser",
"transcript": "ENST00000922558.1",
"protein_id": "ENSP00000592617.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 176,
"cds_start": 355,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922558.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXYD5",
"gene_hgnc_id": 4029,
"hgvs_c": "c.361C>T",
"hgvs_p": "p.Pro121Ser",
"transcript": "ENST00000922571.1",
"protein_id": "ENSP00000592630.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 168,
"cds_start": 361,
"cds_end": null,
"cds_length": 507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922571.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXYD5",
"gene_hgnc_id": 4029,
"hgvs_c": "c.361C>T",
"hgvs_p": "p.Pro121Ser",
"transcript": "ENST00000922562.1",
"protein_id": "ENSP00000592621.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 165,
"cds_start": 361,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922562.1"
},
{
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],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXYD5",
"gene_hgnc_id": 4029,
"hgvs_c": "n.162C>T",
"hgvs_p": null,
"transcript": "ENST00000591716.6",
"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": "ENST00000591716.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXYD5",
"gene_hgnc_id": 4029,
"hgvs_c": "n.*105C>T",
"hgvs_p": null,
"transcript": "ENST00000592290.5",
"protein_id": "ENSP00000465174.1",
"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": "ENST00000592290.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXYD5",
"gene_hgnc_id": 4029,
"hgvs_c": "n.1177C>T",
"hgvs_p": null,
"transcript": "NR_028406.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_028406.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXYD5",
"gene_hgnc_id": 4029,
"hgvs_c": "n.*288C>T",
"hgvs_p": null,
"transcript": "ENST00000496493.5",
"protein_id": "ENSP00000468168.1",
"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": "ENST00000496493.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FXYD5",
"gene_hgnc_id": 4029,
"hgvs_c": "n.*105C>T",
"hgvs_p": null,
"transcript": "ENST00000592290.5",
"protein_id": "ENSP00000465174.1",
"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": "ENST00000592290.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FXYD5",
"gene_hgnc_id": 4029,
"hgvs_c": "n.40-2027C>T",
"hgvs_p": null,
"transcript": "ENST00000586925.1",
"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": "ENST00000586925.1"
}
],
"gene_symbol": "FXYD5",
"gene_hgnc_id": 4029,
"dbsnp": "rs535139146",
"frequency_reference_population": 0.000045259138,
"hom_count_reference_population": 0,
"allele_count_reference_population": 73,
"gnomad_exomes_af": 0.0000438124,
"gnomad_genomes_af": 0.0000591475,
"gnomad_exomes_ac": 64,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.021525293588638306,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.022,
"revel_prediction": "Benign",
"alphamissense_score": 0.0924,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.35,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001320912.2",
"gene_symbol": "FXYD5",
"hgnc_id": 4029,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.361C>T",
"hgvs_p": "p.Pro121Ser"
}
],
"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
}