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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: 9-98078196-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=98078196&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 98078196,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_018946.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NANS",
"gene_hgnc_id": 19237,
"hgvs_c": "c.452G>A",
"hgvs_p": "p.Arg151His",
"transcript": "NM_018946.4",
"protein_id": "NP_061819.2",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 359,
"cds_start": 452,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000210444.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018946.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NANS",
"gene_hgnc_id": 19237,
"hgvs_c": "c.452G>A",
"hgvs_p": "p.Arg151His",
"transcript": "ENST00000210444.6",
"protein_id": "ENSP00000210444.5",
"transcript_support_level": 1,
"aa_start": 151,
"aa_end": null,
"aa_length": 359,
"cds_start": 452,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018946.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000210444.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NANS",
"gene_hgnc_id": 19237,
"hgvs_c": "c.506G>A",
"hgvs_p": "p.Arg169His",
"transcript": "ENST00000924305.1",
"protein_id": "ENSP00000594364.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 377,
"cds_start": 506,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924305.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NANS",
"gene_hgnc_id": 19237,
"hgvs_c": "c.449G>A",
"hgvs_p": "p.Arg150His",
"transcript": "ENST00000924304.1",
"protein_id": "ENSP00000594363.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 358,
"cds_start": 449,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924304.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NANS",
"gene_hgnc_id": 19237,
"hgvs_c": "c.452G>A",
"hgvs_p": "p.Arg151His",
"transcript": "ENST00000869791.1",
"protein_id": "ENSP00000539850.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 356,
"cds_start": 452,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869791.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NANS",
"gene_hgnc_id": 19237,
"hgvs_c": "c.452G>A",
"hgvs_p": "p.Arg151His",
"transcript": "ENST00000924303.1",
"protein_id": "ENSP00000594362.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 356,
"cds_start": 452,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924303.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NANS",
"gene_hgnc_id": 19237,
"hgvs_c": "c.365G>A",
"hgvs_p": "p.Arg122His",
"transcript": "ENST00000956796.1",
"protein_id": "ENSP00000626855.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 330,
"cds_start": 365,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956796.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NANS",
"gene_hgnc_id": 19237,
"hgvs_c": "c.236G>A",
"hgvs_p": "p.Arg79His",
"transcript": "ENST00000924306.1",
"protein_id": "ENSP00000594365.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 287,
"cds_start": 236,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924306.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NANS",
"gene_hgnc_id": 19237,
"hgvs_c": "c.452G>A",
"hgvs_p": "p.Arg151His",
"transcript": "ENST00000956797.1",
"protein_id": "ENSP00000626856.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 270,
"cds_start": 452,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956797.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NANS",
"gene_hgnc_id": 19237,
"hgvs_c": "c.29G>A",
"hgvs_p": "p.Arg10His",
"transcript": "ENST00000415280.1",
"protein_id": "ENSP00000404107.1",
"transcript_support_level": 5,
"aa_start": 10,
"aa_end": null,
"aa_length": 139,
"cds_start": 29,
"cds_end": null,
"cds_length": 420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000415280.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NANS",
"gene_hgnc_id": 19237,
"hgvs_c": "c.104G>A",
"hgvs_p": "p.Arg35His",
"transcript": "XM_011518787.3",
"protein_id": "XP_011517089.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 243,
"cds_start": 104,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518787.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NANS",
"gene_hgnc_id": 19237,
"hgvs_c": "c.104G>A",
"hgvs_p": "p.Arg35His",
"transcript": "XM_047423476.1",
"protein_id": "XP_047279432.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 243,
"cds_start": 104,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423476.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NANS",
"gene_hgnc_id": 19237,
"hgvs_c": "c.77G>A",
"hgvs_p": "p.Arg26His",
"transcript": "XM_011518788.3",
"protein_id": "XP_011517090.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 234,
"cds_start": 77,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518788.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM14",
"gene_hgnc_id": 16283,
"hgvs_c": "c.*219C>T",
"hgvs_p": null,
"transcript": "ENST00000869645.1",
"protein_id": "ENSP00000539704.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 442,
"cds_start": null,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869645.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM14",
"gene_hgnc_id": 16283,
"hgvs_c": "c.*219C>T",
"hgvs_p": null,
"transcript": "ENST00000956697.1",
"protein_id": "ENSP00000626756.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 364,
"cds_start": null,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956697.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM14",
"gene_hgnc_id": 16283,
"hgvs_c": "c.*219C>T",
"hgvs_p": null,
"transcript": "XM_017015353.3",
"protein_id": "XP_016870842.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 442,
"cds_start": null,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015353.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TRIM14",
"gene_hgnc_id": 16283,
"hgvs_c": "c.*29-8509C>T",
"hgvs_p": null,
"transcript": "ENST00000375098.7",
"protein_id": "ENSP00000364239.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 442,
"cds_start": null,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375098.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TRIM14",
"gene_hgnc_id": 16283,
"hgvs_c": "c.*29-8349C>T",
"hgvs_p": null,
"transcript": "ENST00000869642.1",
"protein_id": "ENSP00000539701.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 442,
"cds_start": null,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869642.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TRIM14",
"gene_hgnc_id": 16283,
"hgvs_c": "c.*29-6030C>T",
"hgvs_p": null,
"transcript": "ENST00000869643.1",
"protein_id": "ENSP00000539702.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 442,
"cds_start": null,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869643.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TRIM14",
"gene_hgnc_id": 16283,
"hgvs_c": "c.*29-4571C>T",
"hgvs_p": null,
"transcript": "ENST00000869644.1",
"protein_id": "ENSP00000539703.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 442,
"cds_start": null,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869644.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NANS",
"gene_hgnc_id": 19237,
"hgvs_c": "c.448+1179G>A",
"hgvs_p": null,
"transcript": "ENST00000869790.1",
"protein_id": "ENSP00000539849.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 296,
"cds_start": null,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869790.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NANS",
"gene_hgnc_id": 19237,
"hgvs_c": "c.349-98G>A",
"hgvs_p": null,
"transcript": "ENST00000924307.1",
"protein_id": "ENSP00000594366.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 292,
"cds_start": null,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924307.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
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"gene_symbol": "NANS",
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"transcript": "ENST00000869789.1",
"protein_id": "ENSP00000539848.1",
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"aa_start": null,
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"aa_length": 274,
"cds_start": null,
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"cds_length": 825,
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"biotype": "protein_coding",
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{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
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"exon_count": 7,
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"transcript": "XM_047424160.1",
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{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
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"gene_symbol": "TRIM14",
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"hgvs_c": "c.*28+9246C>T",
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"transcript": "XM_047424161.1",
"protein_id": "XP_047280117.1",
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"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "XM_047424161.1"
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{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 6,
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"gene_symbol": "TRIM14",
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"transcript": "XM_047424162.1",
"protein_id": "XP_047280118.1",
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"aa_end": null,
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"cds_end": null,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "XM_047424162.1"
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{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NANS",
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"hgvs_c": "n.2379G>A",
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"transcript": "ENST00000461452.1",
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"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
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"biotype": "pseudogene",
"feature": "ENST00000461452.1"
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{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
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"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NANS",
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"hgvs_c": "n.656G>A",
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"transcript": "ENST00000495319.1",
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"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
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"biotype": "pseudogene",
"feature": "ENST00000495319.1"
},
{
"aa_ref": null,
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"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NANS",
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"hgvs_c": "c.-125G>A",
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"transcript": "ENST00000427646.1",
"protein_id": "ENSP00000404642.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 115,
"cds_start": null,
"cds_end": null,
"cds_length": 348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427646.1"
}
],
"gene_symbol": "NANS",
"gene_hgnc_id": 19237,
"dbsnp": "rs140402727",
"frequency_reference_population": 0.0000111523195,
"hom_count_reference_population": 0,
"allele_count_reference_population": 18,
"gnomad_exomes_af": 0.0000116289,
"gnomad_genomes_af": 0.00000657272,
"gnomad_exomes_ac": 17,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6903982758522034,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.298,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2577,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.527,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_018946.4",
"gene_symbol": "NANS",
"hgnc_id": 19237,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.452G>A",
"hgvs_p": "p.Arg151His"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000869645.1",
"gene_symbol": "TRIM14",
"hgnc_id": 16283,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*219C>T",
"hgvs_p": null
}
],
"clinvar_disease": " Genevieve type,Spondyloepimetaphyseal dysplasia,not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Spondyloepimetaphyseal dysplasia, Genevieve type|not specified|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}