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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: 15-90889880-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=90889880&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 90889880,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_002005.4",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FES",
"gene_hgnc_id": 3657,
"hgvs_c": "c.967A>G",
"hgvs_p": "p.Met323Val",
"transcript": "NM_002005.4",
"protein_id": "NP_001996.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 822,
"cds_start": 967,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000328850.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002005.4"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FES",
"gene_hgnc_id": 3657,
"hgvs_c": "c.967A>G",
"hgvs_p": "p.Met323Val",
"transcript": "ENST00000328850.8",
"protein_id": "ENSP00000331504.3",
"transcript_support_level": 1,
"aa_start": 323,
"aa_end": null,
"aa_length": 822,
"cds_start": 967,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002005.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000328850.8"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FES",
"gene_hgnc_id": 3657,
"hgvs_c": "c.793A>G",
"hgvs_p": "p.Met265Val",
"transcript": "ENST00000394300.7",
"protein_id": "ENSP00000377837.3",
"transcript_support_level": 1,
"aa_start": 265,
"aa_end": null,
"aa_length": 764,
"cds_start": 793,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394300.7"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FES",
"gene_hgnc_id": 3657,
"hgvs_c": "c.967A>G",
"hgvs_p": "p.Met323Val",
"transcript": "ENST00000444422.2",
"protein_id": "ENSP00000400868.2",
"transcript_support_level": 1,
"aa_start": 323,
"aa_end": null,
"aa_length": 752,
"cds_start": 967,
"cds_end": null,
"cds_length": 2259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444422.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FES",
"gene_hgnc_id": 3657,
"hgvs_c": "c.967A>G",
"hgvs_p": "p.Met323Val",
"transcript": "ENST00000907222.1",
"protein_id": "ENSP00000577281.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 873,
"cds_start": 967,
"cds_end": null,
"cds_length": 2622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907222.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FES",
"gene_hgnc_id": 3657,
"hgvs_c": "c.967A>G",
"hgvs_p": "p.Met323Val",
"transcript": "ENST00000907221.1",
"protein_id": "ENSP00000577280.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 840,
"cds_start": 967,
"cds_end": null,
"cds_length": 2523,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907221.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FES",
"gene_hgnc_id": 3657,
"hgvs_c": "c.967A>G",
"hgvs_p": "p.Met323Val",
"transcript": "ENST00000963629.1",
"protein_id": "ENSP00000633688.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 840,
"cds_start": 967,
"cds_end": null,
"cds_length": 2523,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963629.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FES",
"gene_hgnc_id": 3657,
"hgvs_c": "c.967A>G",
"hgvs_p": "p.Met323Val",
"transcript": "ENST00000907218.1",
"protein_id": "ENSP00000577277.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 822,
"cds_start": 967,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907218.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FES",
"gene_hgnc_id": 3657,
"hgvs_c": "c.913A>G",
"hgvs_p": "p.Met305Val",
"transcript": "ENST00000907224.1",
"protein_id": "ENSP00000577283.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 822,
"cds_start": 913,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907224.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FES",
"gene_hgnc_id": 3657,
"hgvs_c": "c.967A>G",
"hgvs_p": "p.Met323Val",
"transcript": "ENST00000907226.1",
"protein_id": "ENSP00000577285.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 822,
"cds_start": 967,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907226.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FES",
"gene_hgnc_id": 3657,
"hgvs_c": "c.967A>G",
"hgvs_p": "p.Met323Val",
"transcript": "ENST00000907231.1",
"protein_id": "ENSP00000577290.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 822,
"cds_start": 967,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907231.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FES",
"gene_hgnc_id": 3657,
"hgvs_c": "c.967A>G",
"hgvs_p": "p.Met323Val",
"transcript": "ENST00000907233.1",
"protein_id": "ENSP00000577292.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 822,
"cds_start": 967,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907233.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FES",
"gene_hgnc_id": 3657,
"hgvs_c": "c.967A>G",
"hgvs_p": "p.Met323Val",
"transcript": "ENST00000907234.1",
"protein_id": "ENSP00000577293.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 822,
"cds_start": 967,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907234.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FES",
"gene_hgnc_id": 3657,
"hgvs_c": "c.967A>G",
"hgvs_p": "p.Met323Val",
"transcript": "ENST00000907238.1",
"protein_id": "ENSP00000577297.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 822,
"cds_start": 967,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907238.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FES",
"gene_hgnc_id": 3657,
"hgvs_c": "c.967A>G",
"hgvs_p": "p.Met323Val",
"transcript": "ENST00000963619.1",
"protein_id": "ENSP00000633678.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 822,
"cds_start": 967,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963619.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FES",
"gene_hgnc_id": 3657,
"hgvs_c": "c.967A>G",
"hgvs_p": "p.Met323Val",
"transcript": "ENST00000963624.1",
"protein_id": "ENSP00000633683.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 822,
"cds_start": 967,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963624.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FES",
"gene_hgnc_id": 3657,
"hgvs_c": "c.967A>G",
"hgvs_p": "p.Met323Val",
"transcript": "ENST00000963626.1",
"protein_id": "ENSP00000633685.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 822,
"cds_start": 967,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963626.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FES",
"gene_hgnc_id": 3657,
"hgvs_c": "c.967A>G",
"hgvs_p": "p.Met323Val",
"transcript": "ENST00000963637.1",
"protein_id": "ENSP00000633696.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 822,
"cds_start": 967,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963637.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FES",
"gene_hgnc_id": 3657,
"hgvs_c": "c.967A>G",
"hgvs_p": "p.Met323Val",
"transcript": "ENST00000907217.1",
"protein_id": "ENSP00000577276.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 820,
"cds_start": 967,
"cds_end": null,
"cds_length": 2463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907217.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FES",
"gene_hgnc_id": 3657,
"hgvs_c": "c.967A>G",
"hgvs_p": "p.Met323Val",
"transcript": "ENST00000963630.1",
"protein_id": "ENSP00000633689.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 816,
"cds_start": 967,
"cds_end": null,
"cds_length": 2451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963630.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FES",
"gene_hgnc_id": 3657,
"hgvs_c": "c.913A>G",
"hgvs_p": "p.Met305Val",
"transcript": "ENST00000907223.1",
"protein_id": "ENSP00000577282.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 804,
"cds_start": 913,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907223.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FES",
"gene_hgnc_id": 3657,
"hgvs_c": "c.913A>G",
"hgvs_p": "p.Met305Val",
"transcript": "ENST00000907232.1",
"protein_id": "ENSP00000577291.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 804,
"cds_start": 913,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907232.1"
},
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"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
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"exon_count": 5,
"intron_rank": null,
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"gene_symbol": "FES",
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"hgvs_c": "n.128A>G",
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"transcript": "ENST00000448367.5",
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"transcript_support_level": 3,
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"aa_length": null,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
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"biotype": "pseudogene",
"feature": "ENST00000448367.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
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"exon_count": 3,
"intron_rank": null,
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"gene_symbol": "FES",
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"hgvs_c": "n.32A>G",
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"transcript": "ENST00000462476.1",
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"aa_length": null,
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"cdna_start": null,
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"biotype": "retained_intron",
"feature": "ENST00000462476.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
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"exon_count": 18,
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"gene_symbol": "FES",
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"hgvs_c": "n.967A>G",
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"transcript": "ENST00000464684.5",
"protein_id": "ENSP00000435811.1",
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"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000464684.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
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"exon_count": 2,
"intron_rank": null,
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"gene_symbol": "FES",
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"hgvs_c": "n.472A>G",
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"transcript": "ENST00000494259.1",
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"transcript_support_level": 4,
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"aa_length": null,
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"cdna_start": null,
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"biotype": "retained_intron",
"feature": "ENST00000494259.1"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
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"exon_count": 5,
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"gene_symbol": "FES",
"gene_hgnc_id": 3657,
"hgvs_c": "n.41A>G",
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"transcript": "ENST00000496379.5",
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"transcript_support_level": 3,
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"cdna_start": null,
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"biotype": "retained_intron",
"feature": "ENST00000496379.5"
}
],
"gene_symbol": "FES",
"gene_hgnc_id": 3657,
"dbsnp": "rs56296062",
"frequency_reference_population": 0.0031671224,
"hom_count_reference_population": 126,
"allele_count_reference_population": 5110,
"gnomad_exomes_af": 0.00200665,
"gnomad_genomes_af": 0.0143401,
"gnomad_exomes_ac": 2933,
"gnomad_genomes_ac": 2177,
"gnomad_exomes_homalt": 62,
"gnomad_genomes_homalt": 64,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0021565258502960205,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.103,
"revel_prediction": "Benign",
"alphamissense_score": 0.0794,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.561,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_002005.4",
"gene_symbol": "FES",
"hgnc_id": 3657,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.967A>G",
"hgvs_p": "p.Met323Val"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}