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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: 15-90889521-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=90889521&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 90889521,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_002005.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FES",
"gene_hgnc_id": 3657,
"hgvs_c": "c.811G>A",
"hgvs_p": "p.Ala271Thr",
"transcript": "NM_002005.4",
"protein_id": "NP_001996.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 822,
"cds_start": 811,
"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": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FES",
"gene_hgnc_id": 3657,
"hgvs_c": "c.811G>A",
"hgvs_p": "p.Ala271Thr",
"transcript": "ENST00000328850.8",
"protein_id": "ENSP00000331504.3",
"transcript_support_level": 1,
"aa_start": 271,
"aa_end": null,
"aa_length": 822,
"cds_start": 811,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FES",
"gene_hgnc_id": 3657,
"hgvs_c": "c.637G>A",
"hgvs_p": "p.Ala213Thr",
"transcript": "ENST00000394300.7",
"protein_id": "ENSP00000377837.3",
"transcript_support_level": 1,
"aa_start": 213,
"aa_end": null,
"aa_length": 764,
"cds_start": 637,
"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": "A",
"aa_alt": "T",
"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.811G>A",
"hgvs_p": "p.Ala271Thr",
"transcript": "ENST00000444422.2",
"protein_id": "ENSP00000400868.2",
"transcript_support_level": 1,
"aa_start": 271,
"aa_end": null,
"aa_length": 752,
"cds_start": 811,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FES",
"gene_hgnc_id": 3657,
"hgvs_c": "c.811G>A",
"hgvs_p": "p.Ala271Thr",
"transcript": "ENST00000907222.1",
"protein_id": "ENSP00000577281.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 873,
"cds_start": 811,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FES",
"gene_hgnc_id": 3657,
"hgvs_c": "c.811G>A",
"hgvs_p": "p.Ala271Thr",
"transcript": "ENST00000907221.1",
"protein_id": "ENSP00000577280.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 840,
"cds_start": 811,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FES",
"gene_hgnc_id": 3657,
"hgvs_c": "c.811G>A",
"hgvs_p": "p.Ala271Thr",
"transcript": "ENST00000963629.1",
"protein_id": "ENSP00000633688.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 840,
"cds_start": 811,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FES",
"gene_hgnc_id": 3657,
"hgvs_c": "c.811G>A",
"hgvs_p": "p.Ala271Thr",
"transcript": "ENST00000907218.1",
"protein_id": "ENSP00000577277.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 822,
"cds_start": 811,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FES",
"gene_hgnc_id": 3657,
"hgvs_c": "c.757G>A",
"hgvs_p": "p.Ala253Thr",
"transcript": "ENST00000907224.1",
"protein_id": "ENSP00000577283.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 822,
"cds_start": 757,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FES",
"gene_hgnc_id": 3657,
"hgvs_c": "c.811G>A",
"hgvs_p": "p.Ala271Thr",
"transcript": "ENST00000907226.1",
"protein_id": "ENSP00000577285.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 822,
"cds_start": 811,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FES",
"gene_hgnc_id": 3657,
"hgvs_c": "c.811G>A",
"hgvs_p": "p.Ala271Thr",
"transcript": "ENST00000907231.1",
"protein_id": "ENSP00000577290.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 822,
"cds_start": 811,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FES",
"gene_hgnc_id": 3657,
"hgvs_c": "c.811G>A",
"hgvs_p": "p.Ala271Thr",
"transcript": "ENST00000907233.1",
"protein_id": "ENSP00000577292.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 822,
"cds_start": 811,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FES",
"gene_hgnc_id": 3657,
"hgvs_c": "c.811G>A",
"hgvs_p": "p.Ala271Thr",
"transcript": "ENST00000907234.1",
"protein_id": "ENSP00000577293.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 822,
"cds_start": 811,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FES",
"gene_hgnc_id": 3657,
"hgvs_c": "c.811G>A",
"hgvs_p": "p.Ala271Thr",
"transcript": "ENST00000907238.1",
"protein_id": "ENSP00000577297.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 822,
"cds_start": 811,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FES",
"gene_hgnc_id": 3657,
"hgvs_c": "c.811G>A",
"hgvs_p": "p.Ala271Thr",
"transcript": "ENST00000963619.1",
"protein_id": "ENSP00000633678.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 822,
"cds_start": 811,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FES",
"gene_hgnc_id": 3657,
"hgvs_c": "c.811G>A",
"hgvs_p": "p.Ala271Thr",
"transcript": "ENST00000963624.1",
"protein_id": "ENSP00000633683.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 822,
"cds_start": 811,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FES",
"gene_hgnc_id": 3657,
"hgvs_c": "c.811G>A",
"hgvs_p": "p.Ala271Thr",
"transcript": "ENST00000963626.1",
"protein_id": "ENSP00000633685.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 822,
"cds_start": 811,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FES",
"gene_hgnc_id": 3657,
"hgvs_c": "c.811G>A",
"hgvs_p": "p.Ala271Thr",
"transcript": "ENST00000963637.1",
"protein_id": "ENSP00000633696.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 822,
"cds_start": 811,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FES",
"gene_hgnc_id": 3657,
"hgvs_c": "c.811G>A",
"hgvs_p": "p.Ala271Thr",
"transcript": "ENST00000907217.1",
"protein_id": "ENSP00000577276.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 820,
"cds_start": 811,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FES",
"gene_hgnc_id": 3657,
"hgvs_c": "c.811G>A",
"hgvs_p": "p.Ala271Thr",
"transcript": "ENST00000963630.1",
"protein_id": "ENSP00000633689.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 816,
"cds_start": 811,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FES",
"gene_hgnc_id": 3657,
"hgvs_c": "c.757G>A",
"hgvs_p": "p.Ala253Thr",
"transcript": "ENST00000907223.1",
"protein_id": "ENSP00000577282.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 804,
"cds_start": 757,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FES",
"gene_hgnc_id": 3657,
"hgvs_c": "c.757G>A",
"hgvs_p": "p.Ala253Thr",
"transcript": "ENST00000907232.1",
"protein_id": "ENSP00000577291.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 804,
"cds_start": 757,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
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"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FES",
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"hgvs_c": "n.811G>A",
"hgvs_p": null,
"transcript": "ENST00000464684.5",
"protein_id": "ENSP00000435811.1",
"transcript_support_level": 5,
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"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": "ENST00000464684.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FES",
"gene_hgnc_id": 3657,
"hgvs_c": "n.316G>A",
"hgvs_p": null,
"transcript": "ENST00000494259.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000494259.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FES",
"gene_hgnc_id": 3657,
"hgvs_c": "n.*671G>A",
"hgvs_p": null,
"transcript": "ENST00000470152.6",
"protein_id": "ENSP00000454146.1",
"transcript_support_level": 1,
"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": "ENST00000470152.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FES",
"gene_hgnc_id": 3657,
"hgvs_c": "n.-29G>A",
"hgvs_p": null,
"transcript": "ENST00000448367.5",
"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": "ENST00000448367.5"
},
{
"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": "FES",
"gene_hgnc_id": 3657,
"hgvs_c": "n.*196G>A",
"hgvs_p": null,
"transcript": "ENST00000497945.2",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000497945.2"
}
],
"gene_symbol": "FES",
"gene_hgnc_id": 3657,
"dbsnp": "rs765947794",
"frequency_reference_population": 0.000010946907,
"hom_count_reference_population": 0,
"allele_count_reference_population": 16,
"gnomad_exomes_af": 0.0000109469,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 16,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.01900508999824524,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.011,
"revel_prediction": "Benign",
"alphamissense_score": 0.0643,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.77,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.386,
"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": "PM2,BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_002005.4",
"gene_symbol": "FES",
"hgnc_id": 3657,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.811G>A",
"hgvs_p": "p.Ala271Thr"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}