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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: 8-58590010-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=58590010&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 58590010,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001144772.1",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMAF",
"gene_hgnc_id": 8017,
"hgvs_c": "c.2084A>G",
"hgvs_p": "p.Asn695Ser",
"transcript": "NM_003580.4",
"protein_id": "NP_003571.2",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 917,
"cds_start": 2084,
"cds_end": null,
"cds_length": 2754,
"cdna_start": 2306,
"cdna_end": null,
"cdna_length": 3574,
"mane_select": "ENST00000038176.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003580.4"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMAF",
"gene_hgnc_id": 8017,
"hgvs_c": "c.2084A>G",
"hgvs_p": "p.Asn695Ser",
"transcript": "ENST00000038176.8",
"protein_id": "ENSP00000038176.3",
"transcript_support_level": 1,
"aa_start": 695,
"aa_end": null,
"aa_length": 917,
"cds_start": 2084,
"cds_end": null,
"cds_length": 2754,
"cdna_start": 2306,
"cdna_end": null,
"cdna_length": 3574,
"mane_select": "NM_003580.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000038176.8"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMAF",
"gene_hgnc_id": 8017,
"hgvs_c": "c.2177A>G",
"hgvs_p": "p.Asn726Ser",
"transcript": "NM_001144772.1",
"protein_id": "NP_001138244.1",
"transcript_support_level": null,
"aa_start": 726,
"aa_end": null,
"aa_length": 948,
"cds_start": 2177,
"cds_end": null,
"cds_length": 2847,
"cdna_start": 2238,
"cdna_end": null,
"cdna_length": 3510,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001144772.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMAF",
"gene_hgnc_id": 8017,
"hgvs_c": "c.2177A>G",
"hgvs_p": "p.Asn726Ser",
"transcript": "ENST00000427130.7",
"protein_id": "ENSP00000411012.2",
"transcript_support_level": 2,
"aa_start": 726,
"aa_end": null,
"aa_length": 948,
"cds_start": 2177,
"cds_end": null,
"cds_length": 2847,
"cdna_start": 2365,
"cdna_end": null,
"cdna_length": 3637,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427130.7"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMAF",
"gene_hgnc_id": 8017,
"hgvs_c": "c.2153A>G",
"hgvs_p": "p.Asn718Ser",
"transcript": "NM_001413006.1",
"protein_id": "NP_001399935.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 940,
"cds_start": 2153,
"cds_end": null,
"cds_length": 2823,
"cdna_start": 2375,
"cdna_end": null,
"cdna_length": 3643,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413006.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMAF",
"gene_hgnc_id": 8017,
"hgvs_c": "c.2105A>G",
"hgvs_p": "p.Asn702Ser",
"transcript": "ENST00000958102.1",
"protein_id": "ENSP00000628161.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 927,
"cds_start": 2105,
"cds_end": null,
"cds_length": 2784,
"cdna_start": 2303,
"cdna_end": null,
"cdna_length": 3581,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958102.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMAF",
"gene_hgnc_id": 8017,
"hgvs_c": "c.2108A>G",
"hgvs_p": "p.Asn703Ser",
"transcript": "NM_001412998.1",
"protein_id": "NP_001399927.1",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
"aa_length": 925,
"cds_start": 2108,
"cds_end": null,
"cds_length": 2778,
"cdna_start": 2330,
"cdna_end": null,
"cdna_length": 3598,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001412998.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMAF",
"gene_hgnc_id": 8017,
"hgvs_c": "c.2108A>G",
"hgvs_p": "p.Asn703Ser",
"transcript": "ENST00000958106.1",
"protein_id": "ENSP00000628165.1",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
"aa_length": 925,
"cds_start": 2108,
"cds_end": null,
"cds_length": 2778,
"cdna_start": 2192,
"cdna_end": null,
"cdna_length": 3460,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958106.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMAF",
"gene_hgnc_id": 8017,
"hgvs_c": "c.2105A>G",
"hgvs_p": "p.Asn702Ser",
"transcript": "NM_001412994.1",
"protein_id": "NP_001399923.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 924,
"cds_start": 2105,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 2327,
"cdna_end": null,
"cdna_length": 3595,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001412994.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMAF",
"gene_hgnc_id": 8017,
"hgvs_c": "c.2105A>G",
"hgvs_p": "p.Asn702Ser",
"transcript": "NM_001413005.1",
"protein_id": "NP_001399934.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 924,
"cds_start": 2105,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 2327,
"cdna_end": null,
"cdna_length": 3595,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413005.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMAF",
"gene_hgnc_id": 8017,
"hgvs_c": "c.2105A>G",
"hgvs_p": "p.Asn702Ser",
"transcript": "ENST00000870783.1",
"protein_id": "ENSP00000540842.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 924,
"cds_start": 2105,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 2327,
"cdna_end": null,
"cdna_length": 3599,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870783.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMAF",
"gene_hgnc_id": 8017,
"hgvs_c": "c.2105A>G",
"hgvs_p": "p.Asn702Ser",
"transcript": "ENST00000958105.1",
"protein_id": "ENSP00000628164.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 924,
"cds_start": 2105,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 2253,
"cdna_end": null,
"cdna_length": 3522,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958105.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMAF",
"gene_hgnc_id": 8017,
"hgvs_c": "c.2102A>G",
"hgvs_p": "p.Asn701Ser",
"transcript": "NM_001412990.1",
"protein_id": "NP_001399919.1",
"transcript_support_level": null,
"aa_start": 701,
"aa_end": null,
"aa_length": 923,
"cds_start": 2102,
"cds_end": null,
"cds_length": 2772,
"cdna_start": 2324,
"cdna_end": null,
"cdna_length": 3592,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001412990.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMAF",
"gene_hgnc_id": 8017,
"hgvs_c": "c.2102A>G",
"hgvs_p": "p.Asn701Ser",
"transcript": "ENST00000958101.1",
"protein_id": "ENSP00000628160.1",
"transcript_support_level": null,
"aa_start": 701,
"aa_end": null,
"aa_length": 923,
"cds_start": 2102,
"cds_end": null,
"cds_length": 2772,
"cdna_start": 2334,
"cdna_end": null,
"cdna_length": 3602,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958101.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMAF",
"gene_hgnc_id": 8017,
"hgvs_c": "c.2084A>G",
"hgvs_p": "p.Asn695Ser",
"transcript": "NM_001412992.1",
"protein_id": "NP_001399921.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 920,
"cds_start": 2084,
"cds_end": null,
"cds_length": 2763,
"cdna_start": 2306,
"cdna_end": null,
"cdna_length": 3583,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001412992.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMAF",
"gene_hgnc_id": 8017,
"hgvs_c": "c.2084A>G",
"hgvs_p": "p.Asn695Ser",
"transcript": "ENST00000870782.1",
"protein_id": "ENSP00000540841.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 920,
"cds_start": 2084,
"cds_end": null,
"cds_length": 2763,
"cdna_start": 2412,
"cdna_end": null,
"cdna_length": 3693,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870782.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMAF",
"gene_hgnc_id": 8017,
"hgvs_c": "c.2087A>G",
"hgvs_p": "p.Asn696Ser",
"transcript": "ENST00000958104.1",
"protein_id": "ENSP00000628163.1",
"transcript_support_level": null,
"aa_start": 696,
"aa_end": null,
"aa_length": 918,
"cds_start": 2087,
"cds_end": null,
"cds_length": 2757,
"cdna_start": 2253,
"cdna_end": null,
"cdna_length": 3521,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958104.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMAF",
"gene_hgnc_id": 8017,
"hgvs_c": "c.2081A>G",
"hgvs_p": "p.Asn694Ser",
"transcript": "ENST00000958103.1",
"protein_id": "ENSP00000628162.1",
"transcript_support_level": null,
"aa_start": 694,
"aa_end": null,
"aa_length": 916,
"cds_start": 2081,
"cds_end": null,
"cds_length": 2751,
"cdna_start": 2273,
"cdna_end": null,
"cdna_length": 3537,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958103.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMAF",
"gene_hgnc_id": 8017,
"hgvs_c": "c.2018A>G",
"hgvs_p": "p.Asn673Ser",
"transcript": "ENST00000870784.1",
"protein_id": "ENSP00000540843.1",
"transcript_support_level": null,
"aa_start": 673,
"aa_end": null,
"aa_length": 895,
"cds_start": 2018,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 2142,
"cdna_end": null,
"cdna_length": 3414,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870784.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMAF",
"gene_hgnc_id": 8017,
"hgvs_c": "c.2084A>G",
"hgvs_p": "p.Asn695Ser",
"transcript": "NM_001412995.1",
"protein_id": "NP_001399924.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 894,
"cds_start": 2084,
"cds_end": null,
"cds_length": 2685,
"cdna_start": 2306,
"cdna_end": null,
"cdna_length": 3393,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001412995.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMAF",
"gene_hgnc_id": 8017,
"hgvs_c": "c.2084A>G",
"hgvs_p": "p.Asn695Ser",
"transcript": "NM_001413002.1",
"protein_id": "NP_001399931.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 854,
"cds_start": 2084,
"cds_end": null,
"cds_length": 2565,
"cdna_start": 2306,
"cdna_end": null,
"cdna_length": 3471,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413002.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMAF",
"gene_hgnc_id": 8017,
"hgvs_c": "c.2084A>G",
"hgvs_p": "p.Asn695Ser",
"transcript": "NM_001412989.1",
"protein_id": "NP_001399918.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 821,
"cds_start": 2084,
"cds_end": null,
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"biotype": "pseudogene",
"feature": "NR_182086.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
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"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMAF",
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"hgvs_c": "n.2278A>G",
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"transcript": "NR_182087.1",
"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": 3546,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_182087.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMAF",
"gene_hgnc_id": 8017,
"hgvs_c": "n.2254A>G",
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"transcript": "NR_182088.1",
"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": 3505,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_182088.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMAF",
"gene_hgnc_id": 8017,
"hgvs_c": "n.2439A>G",
"hgvs_p": null,
"transcript": "NR_182089.1",
"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": 3707,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_182089.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMAF",
"gene_hgnc_id": 8017,
"hgvs_c": "n.*2223A>G",
"hgvs_p": null,
"transcript": "ENST00000649465.1",
"protein_id": "ENSP00000498107.1",
"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": 3764,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000649465.1"
}
],
"gene_symbol": "NSMAF",
"gene_hgnc_id": 8017,
"dbsnp": "rs572419560",
"frequency_reference_population": 0.000011776826,
"hom_count_reference_population": 0,
"allele_count_reference_population": 19,
"gnomad_exomes_af": 0.00000752905,
"gnomad_genomes_af": 0.0000525176,
"gnomad_exomes_ac": 11,
"gnomad_genomes_ac": 8,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.16518151760101318,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.27000001072883606,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.087,
"revel_prediction": "Benign",
"alphamissense_score": 0.1052,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.24,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.27,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_001144772.1",
"gene_symbol": "NSMAF",
"hgnc_id": 8017,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2177A>G",
"hgvs_p": "p.Asn726Ser"
}
],
"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
}