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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: 17-5386713-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=5386713&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 5386713,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_001320653.2",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP88",
"gene_hgnc_id": 8067,
"hgvs_c": "c.2157A>G",
"hgvs_p": "p.Lys719Lys",
"transcript": "NM_002532.6",
"protein_id": "NP_002523.2",
"transcript_support_level": null,
"aa_start": 719,
"aa_end": null,
"aa_length": 741,
"cds_start": 2157,
"cds_end": null,
"cds_length": 2226,
"cdna_start": 2169,
"cdna_end": null,
"cdna_length": 3611,
"mane_select": "ENST00000573584.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002532.6"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP88",
"gene_hgnc_id": 8067,
"hgvs_c": "c.2157A>G",
"hgvs_p": "p.Lys719Lys",
"transcript": "ENST00000573584.6",
"protein_id": "ENSP00000458954.1",
"transcript_support_level": 1,
"aa_start": 719,
"aa_end": null,
"aa_length": 741,
"cds_start": 2157,
"cds_end": null,
"cds_length": 2226,
"cdna_start": 2169,
"cdna_end": null,
"cdna_length": 3611,
"mane_select": "NM_002532.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000573584.6"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP88",
"gene_hgnc_id": 8067,
"hgvs_c": "c.2232A>G",
"hgvs_p": "p.Lys744Lys",
"transcript": "ENST00000948890.1",
"protein_id": "ENSP00000618949.1",
"transcript_support_level": null,
"aa_start": 744,
"aa_end": null,
"aa_length": 766,
"cds_start": 2232,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 2239,
"cdna_end": null,
"cdna_length": 2411,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948890.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP88",
"gene_hgnc_id": 8067,
"hgvs_c": "c.2205A>G",
"hgvs_p": "p.Lys735Lys",
"transcript": "NM_001320653.2",
"protein_id": "NP_001307582.1",
"transcript_support_level": null,
"aa_start": 735,
"aa_end": null,
"aa_length": 757,
"cds_start": 2205,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 2217,
"cdna_end": null,
"cdna_length": 3659,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320653.2"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP88",
"gene_hgnc_id": 8067,
"hgvs_c": "c.2205A>G",
"hgvs_p": "p.Lys735Lys",
"transcript": "ENST00000225696.9",
"protein_id": "ENSP00000225696.5",
"transcript_support_level": 5,
"aa_start": 735,
"aa_end": null,
"aa_length": 757,
"cds_start": 2205,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 2409,
"cdna_end": null,
"cdna_length": 3900,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000225696.9"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP88",
"gene_hgnc_id": 8067,
"hgvs_c": "c.2184A>G",
"hgvs_p": "p.Lys728Lys",
"transcript": "ENST00000931554.1",
"protein_id": "ENSP00000601613.1",
"transcript_support_level": null,
"aa_start": 728,
"aa_end": null,
"aa_length": 750,
"cds_start": 2184,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 2214,
"cdna_end": null,
"cdna_length": 2456,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931554.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP88",
"gene_hgnc_id": 8067,
"hgvs_c": "c.2154A>G",
"hgvs_p": "p.Lys718Lys",
"transcript": "ENST00000876647.1",
"protein_id": "ENSP00000546706.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 740,
"cds_start": 2154,
"cds_end": null,
"cds_length": 2223,
"cdna_start": 2244,
"cdna_end": null,
"cdna_length": 2416,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876647.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP88",
"gene_hgnc_id": 8067,
"hgvs_c": "c.2157A>G",
"hgvs_p": "p.Lys719Lys",
"transcript": "ENST00000876648.1",
"protein_id": "ENSP00000546707.1",
"transcript_support_level": null,
"aa_start": 719,
"aa_end": null,
"aa_length": 736,
"cds_start": 2157,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 2183,
"cdna_end": null,
"cdna_length": 2340,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876648.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP88",
"gene_hgnc_id": 8067,
"hgvs_c": "c.2157A>G",
"hgvs_p": "p.Lys719Lys",
"transcript": "ENST00000700529.1",
"protein_id": "ENSP00000515034.1",
"transcript_support_level": null,
"aa_start": 719,
"aa_end": null,
"aa_length": 732,
"cds_start": 2157,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 2202,
"cdna_end": null,
"cdna_length": 4626,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700529.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP88",
"gene_hgnc_id": 8067,
"hgvs_c": "c.2103A>G",
"hgvs_p": "p.Lys701Lys",
"transcript": "ENST00000948888.1",
"protein_id": "ENSP00000618947.1",
"transcript_support_level": null,
"aa_start": 701,
"aa_end": null,
"aa_length": 723,
"cds_start": 2103,
"cds_end": null,
"cds_length": 2172,
"cdna_start": 2157,
"cdna_end": null,
"cdna_length": 2330,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948888.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP88",
"gene_hgnc_id": 8067,
"hgvs_c": "c.2157A>G",
"hgvs_p": "p.Lys719Lys",
"transcript": "ENST00000700538.1",
"protein_id": "ENSP00000515044.1",
"transcript_support_level": null,
"aa_start": 719,
"aa_end": null,
"aa_length": 721,
"cds_start": 2157,
"cds_end": null,
"cds_length": 2166,
"cdna_start": 2202,
"cdna_end": null,
"cdna_length": 5682,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700538.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP88",
"gene_hgnc_id": 8067,
"hgvs_c": "c.2076A>G",
"hgvs_p": "p.Lys692Lys",
"transcript": "ENST00000876649.1",
"protein_id": "ENSP00000546708.1",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
"aa_length": 714,
"cds_start": 2076,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 2088,
"cdna_end": null,
"cdna_length": 2261,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876649.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP88",
"gene_hgnc_id": 8067,
"hgvs_c": "c.2070A>G",
"hgvs_p": "p.Lys690Lys",
"transcript": "ENST00000700535.1",
"protein_id": "ENSP00000515040.1",
"transcript_support_level": null,
"aa_start": 690,
"aa_end": null,
"aa_length": 712,
"cds_start": 2070,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 2091,
"cdna_end": null,
"cdna_length": 5246,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700535.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP88",
"gene_hgnc_id": 8067,
"hgvs_c": "c.2064A>G",
"hgvs_p": "p.Lys688Lys",
"transcript": "ENST00000700531.1",
"protein_id": "ENSP00000515036.1",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 710,
"cds_start": 2064,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 2065,
"cdna_end": null,
"cdna_length": 5220,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700531.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP88",
"gene_hgnc_id": 8067,
"hgvs_c": "c.2055A>G",
"hgvs_p": "p.Lys685Lys",
"transcript": "ENST00000876650.1",
"protein_id": "ENSP00000546709.1",
"transcript_support_level": null,
"aa_start": 685,
"aa_end": null,
"aa_length": 707,
"cds_start": 2055,
"cds_end": null,
"cds_length": 2124,
"cdna_start": 2062,
"cdna_end": null,
"cdna_length": 2235,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876650.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP88",
"gene_hgnc_id": 8067,
"hgvs_c": "c.2055A>G",
"hgvs_p": "p.Lys685Lys",
"transcript": "ENST00000948887.1",
"protein_id": "ENSP00000618946.1",
"transcript_support_level": null,
"aa_start": 685,
"aa_end": null,
"aa_length": 707,
"cds_start": 2055,
"cds_end": null,
"cds_length": 2124,
"cdna_start": 2079,
"cdna_end": null,
"cdna_length": 2317,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948887.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP88",
"gene_hgnc_id": 8067,
"hgvs_c": "c.2046A>G",
"hgvs_p": "p.Lys682Lys",
"transcript": "ENST00000700542.1",
"protein_id": "ENSP00000515048.1",
"transcript_support_level": null,
"aa_start": 682,
"aa_end": null,
"aa_length": 704,
"cds_start": 2046,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 2058,
"cdna_end": null,
"cdna_length": 3549,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700542.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP88",
"gene_hgnc_id": 8067,
"hgvs_c": "c.2031A>G",
"hgvs_p": "p.Lys677Lys",
"transcript": "ENST00000876646.1",
"protein_id": "ENSP00000546705.1",
"transcript_support_level": null,
"aa_start": 677,
"aa_end": null,
"aa_length": 699,
"cds_start": 2031,
"cds_end": null,
"cds_length": 2100,
"cdna_start": 2057,
"cdna_end": null,
"cdna_length": 2295,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876646.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP88",
"gene_hgnc_id": 8067,
"hgvs_c": "c.2031A>G",
"hgvs_p": "p.Lys677Lys",
"transcript": "ENST00000948889.1",
"protein_id": "ENSP00000618948.1",
"transcript_support_level": null,
"aa_start": 677,
"aa_end": null,
"aa_length": 699,
"cds_start": 2031,
"cds_end": null,
"cds_length": 2100,
"cdna_start": 2042,
"cdna_end": null,
"cdna_length": 2213,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948889.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP88",
"gene_hgnc_id": 8067,
"hgvs_c": "c.2028A>G",
"hgvs_p": "p.Lys676Lys",
"transcript": "ENST00000700532.1",
"protein_id": "ENSP00000515037.1",
"transcript_support_level": null,
"aa_start": 676,
"aa_end": null,
"aa_length": 698,
"cds_start": 2028,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 2030,
"cdna_end": null,
"cdna_length": 5185,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700532.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP88",
"gene_hgnc_id": 8067,
"hgvs_c": "c.1998A>G",
"hgvs_p": "p.Lys666Lys",
"transcript": "ENST00000700543.1",
"protein_id": "ENSP00000515049.1",
"transcript_support_level": null,
"aa_start": 666,
"aa_end": null,
"aa_length": 688,
"cds_start": 1998,
"cds_end": null,
"cds_length": 2067,
"cdna_start": 2043,
"cdna_end": null,
"cdna_length": 3534,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700543.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP88",
"gene_hgnc_id": 8067,
"hgvs_c": "c.1764A>G",
"hgvs_p": "p.Lys588Lys",
"transcript": "ENST00000700530.1",
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{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
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],
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"transcript": "ENST00000700540.1",
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},
{
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"protein_coding": false,
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"3_prime_UTR_variant"
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"gene_symbol": "NUP88",
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"hgvs_c": "n.*859A>G",
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"transcript": "ENST00000700541.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000700541.1"
},
{
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"protein_coding": false,
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"3_prime_UTR_variant"
],
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"gene_symbol": "NUP88",
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"hgvs_c": "n.*1567A>G",
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"transcript": "ENST00000700545.1",
"protein_id": "ENSP00000515051.1",
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"cdna_length": 2909,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000700545.1"
}
],
"gene_symbol": "NUP88",
"gene_hgnc_id": 8067,
"dbsnp": "rs1071705",
"frequency_reference_population": 0.4264577,
"hom_count_reference_population": 153299,
"allele_count_reference_population": 679980,
"gnomad_exomes_af": 0.425343,
"gnomad_genomes_af": 0.437026,
"gnomad_exomes_ac": 613504,
"gnomad_genomes_ac": 66476,
"gnomad_exomes_homalt": 138001,
"gnomad_genomes_homalt": 15298,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6700000166893005,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.67,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.013,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001320653.2",
"gene_symbol": "NUP88",
"hgnc_id": 8067,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2205A>G",
"hgvs_p": "p.Lys735Lys"
}
],
"clinvar_disease": "Fetal akinesia deformation sequence 4,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided|Fetal akinesia deformation sequence 4",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}