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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: 9-137423689-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=137423689&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 137423689,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_006647.2",
"consequences": [
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOXA1",
"gene_hgnc_id": 10668,
"hgvs_c": "c.160C>T",
"hgvs_p": "p.Pro54Ser",
"transcript": "NM_001256067.2",
"protein_id": "NP_001242996.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 476,
"cds_start": 160,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000683555.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256067.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOXA1",
"gene_hgnc_id": 10668,
"hgvs_c": "c.160C>T",
"hgvs_p": "p.Pro54Ser",
"transcript": "ENST00000683555.1",
"protein_id": "ENSP00000507846.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 476,
"cds_start": 160,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001256067.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683555.1"
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOXA1",
"gene_hgnc_id": 10668,
"hgvs_c": "c.160C>T",
"hgvs_p": "p.Pro54Ser",
"transcript": "ENST00000341349.6",
"protein_id": "ENSP00000342848.2",
"transcript_support_level": 1,
"aa_start": 54,
"aa_end": null,
"aa_length": 483,
"cds_start": 160,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341349.6"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOXA1",
"gene_hgnc_id": 10668,
"hgvs_c": "c.160C>T",
"hgvs_p": "p.Pro54Ser",
"transcript": "ENST00000392815.2",
"protein_id": "ENSP00000376562.2",
"transcript_support_level": 1,
"aa_start": 54,
"aa_end": null,
"aa_length": 427,
"cds_start": 160,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392815.2"
},
{
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOXA1",
"gene_hgnc_id": 10668,
"hgvs_c": "c.160C>T",
"hgvs_p": "p.Pro54Ser",
"transcript": "ENST00000967001.1",
"protein_id": "ENSP00000637060.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 540,
"cds_start": 160,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967001.1"
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOXA1",
"gene_hgnc_id": 10668,
"hgvs_c": "c.160C>T",
"hgvs_p": "p.Pro54Ser",
"transcript": "ENST00000881446.1",
"protein_id": "ENSP00000551505.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 527,
"cds_start": 160,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881446.1"
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOXA1",
"gene_hgnc_id": 10668,
"hgvs_c": "c.160C>T",
"hgvs_p": "p.Pro54Ser",
"transcript": "ENST00000881447.1",
"protein_id": "ENSP00000551506.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 508,
"cds_start": 160,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881447.1"
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOXA1",
"gene_hgnc_id": 10668,
"hgvs_c": "c.160C>T",
"hgvs_p": "p.Pro54Ser",
"transcript": "ENST00000881442.1",
"protein_id": "ENSP00000551501.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 505,
"cds_start": 160,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881442.1"
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOXA1",
"gene_hgnc_id": 10668,
"hgvs_c": "c.160C>T",
"hgvs_p": "p.Pro54Ser",
"transcript": "ENST00000881444.1",
"protein_id": "ENSP00000551503.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 505,
"cds_start": 160,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881444.1"
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOXA1",
"gene_hgnc_id": 10668,
"hgvs_c": "c.160C>T",
"hgvs_p": "p.Pro54Ser",
"transcript": "ENST00000881439.1",
"protein_id": "ENSP00000551498.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 500,
"cds_start": 160,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881439.1"
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOXA1",
"gene_hgnc_id": 10668,
"hgvs_c": "c.160C>T",
"hgvs_p": "p.Pro54Ser",
"transcript": "ENST00000881438.1",
"protein_id": "ENSP00000551497.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 498,
"cds_start": 160,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881438.1"
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOXA1",
"gene_hgnc_id": 10668,
"hgvs_c": "c.160C>T",
"hgvs_p": "p.Pro54Ser",
"transcript": "NM_006647.2",
"protein_id": "NP_006638.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 483,
"cds_start": 160,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006647.2"
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOXA1",
"gene_hgnc_id": 10668,
"hgvs_c": "c.160C>T",
"hgvs_p": "p.Pro54Ser",
"transcript": "ENST00000881445.1",
"protein_id": "ENSP00000551504.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 482,
"cds_start": 160,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881445.1"
},
{
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOXA1",
"gene_hgnc_id": 10668,
"hgvs_c": "c.160C>T",
"hgvs_p": "p.Pro54Ser",
"transcript": "ENST00000967004.1",
"protein_id": "ENSP00000637063.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 472,
"cds_start": 160,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967004.1"
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOXA1",
"gene_hgnc_id": 10668,
"hgvs_c": "c.160C>T",
"hgvs_p": "p.Pro54Ser",
"transcript": "ENST00000881440.1",
"protein_id": "ENSP00000551499.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 467,
"cds_start": 160,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881440.1"
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOXA1",
"gene_hgnc_id": 10668,
"hgvs_c": "c.160C>T",
"hgvs_p": "p.Pro54Ser",
"transcript": "ENST00000967005.1",
"protein_id": "ENSP00000637064.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 467,
"cds_start": 160,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967005.1"
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOXA1",
"gene_hgnc_id": 10668,
"hgvs_c": "c.160C>T",
"hgvs_p": "p.Pro54Ser",
"transcript": "ENST00000881441.1",
"protein_id": "ENSP00000551500.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 460,
"cds_start": 160,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881441.1"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOXA1",
"gene_hgnc_id": 10668,
"hgvs_c": "c.160C>T",
"hgvs_p": "p.Pro54Ser",
"transcript": "ENST00000967002.1",
"protein_id": "ENSP00000637061.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 441,
"cds_start": 160,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967002.1"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOXA1",
"gene_hgnc_id": 10668,
"hgvs_c": "c.160C>T",
"hgvs_p": "p.Pro54Ser",
"transcript": "ENST00000967003.1",
"protein_id": "ENSP00000637062.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
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"cds_start": 160,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967003.1"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOXA1",
"gene_hgnc_id": 10668,
"hgvs_c": "c.160C>T",
"hgvs_p": "p.Pro54Ser",
"transcript": "NM_001256068.2",
"protein_id": "NP_001242997.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 427,
"cds_start": 160,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256068.2"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOXA1",
"gene_hgnc_id": 10668,
"hgvs_c": "c.160C>T",
"hgvs_p": "p.Pro54Ser",
"transcript": "ENST00000881443.1",
"protein_id": "ENSP00000551502.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 420,
"cds_start": 160,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881443.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOXA1",
"gene_hgnc_id": 10668,
"hgvs_c": "c.139C>T",
"hgvs_p": "p.Pro47Ser",
"transcript": "ENST00000683683.1",
"protein_id": "ENSP00000506984.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 259,
"cds_start": 139,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683683.1"
},
{
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOXA1",
"gene_hgnc_id": 10668,
"hgvs_c": "c.160C>T",
"hgvs_p": "p.Pro54Ser",
"transcript": "XM_011518158.4",
"protein_id": "XP_011516460.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 447,
"cds_start": 160,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518158.4"
},
{
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOXA1",
"gene_hgnc_id": 10668,
"hgvs_c": "c.160C>T",
"hgvs_p": "p.Pro54Ser",
"transcript": "XM_047422658.1",
"protein_id": "XP_047278614.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 440,
"cds_start": 160,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422658.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOXA1",
"gene_hgnc_id": 10668,
"hgvs_c": "c.160C>T",
"hgvs_p": "p.Pro54Ser",
"transcript": "XM_047422660.1",
"protein_id": "XP_047278616.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 246,
"cds_start": 160,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422660.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NOXA1",
"gene_hgnc_id": 10668,
"hgvs_c": "n.160C>T",
"hgvs_p": null,
"transcript": "ENST00000684693.1",
"protein_id": "ENSP00000507334.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000684693.1"
}
],
"gene_symbol": "NOXA1",
"gene_hgnc_id": 10668,
"dbsnp": "rs1199557894",
"frequency_reference_population": 8.460423e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 8.46042e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1372663378715515,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.225,
"revel_prediction": "Benign",
"alphamissense_score": 0.133,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.602,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006647.2",
"gene_symbol": "NOXA1",
"hgnc_id": 10668,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.160C>T",
"hgvs_p": "p.Pro54Ser"
}
],
"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
}