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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: 1-224275343-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=224275343&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 224275343,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_002533.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NVL",
"gene_hgnc_id": 8070,
"hgvs_c": "c.2078G>A",
"hgvs_p": "p.Arg693Gln",
"transcript": "NM_002533.4",
"protein_id": "NP_002524.2",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 856,
"cds_start": 2078,
"cds_end": null,
"cds_length": 2571,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000281701.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002533.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NVL",
"gene_hgnc_id": 8070,
"hgvs_c": "c.2078G>A",
"hgvs_p": "p.Arg693Gln",
"transcript": "ENST00000281701.11",
"protein_id": "ENSP00000281701.6",
"transcript_support_level": 1,
"aa_start": 693,
"aa_end": null,
"aa_length": 856,
"cds_start": 2078,
"cds_end": null,
"cds_length": 2571,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002533.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000281701.11"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NVL",
"gene_hgnc_id": 8070,
"hgvs_c": "c.1760G>A",
"hgvs_p": "p.Arg587Gln",
"transcript": "ENST00000391875.6",
"protein_id": "ENSP00000375747.2",
"transcript_support_level": 1,
"aa_start": 587,
"aa_end": null,
"aa_length": 750,
"cds_start": 1760,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000391875.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NVL",
"gene_hgnc_id": 8070,
"hgvs_c": "c.1943G>A",
"hgvs_p": "p.Arg648Gln",
"transcript": "ENST00000933815.1",
"protein_id": "ENSP00000603874.1",
"transcript_support_level": null,
"aa_start": 648,
"aa_end": null,
"aa_length": 811,
"cds_start": 1943,
"cds_end": null,
"cds_length": 2436,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933815.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NVL",
"gene_hgnc_id": 8070,
"hgvs_c": "c.2078G>A",
"hgvs_p": "p.Arg693Gln",
"transcript": "ENST00000933818.1",
"protein_id": "ENSP00000603877.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 777,
"cds_start": 2078,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933818.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NVL",
"gene_hgnc_id": 8070,
"hgvs_c": "c.1805G>A",
"hgvs_p": "p.Arg602Gln",
"transcript": "NM_001243147.2",
"protein_id": "NP_001230076.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 765,
"cds_start": 1805,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001243147.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NVL",
"gene_hgnc_id": 8070,
"hgvs_c": "c.1805G>A",
"hgvs_p": "p.Arg602Gln",
"transcript": "ENST00000469075.5",
"protein_id": "ENSP00000417826.1",
"transcript_support_level": 2,
"aa_start": 602,
"aa_end": null,
"aa_length": 765,
"cds_start": 1805,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000469075.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NVL",
"gene_hgnc_id": 8070,
"hgvs_c": "c.1760G>A",
"hgvs_p": "p.Arg587Gln",
"transcript": "NM_206840.3",
"protein_id": "NP_996671.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 750,
"cds_start": 1760,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_206840.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NVL",
"gene_hgnc_id": 8070,
"hgvs_c": "c.1511G>A",
"hgvs_p": "p.Arg504Gln",
"transcript": "NM_001243146.2",
"protein_id": "NP_001230075.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 667,
"cds_start": 1511,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001243146.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NVL",
"gene_hgnc_id": 8070,
"hgvs_c": "c.1511G>A",
"hgvs_p": "p.Arg504Gln",
"transcript": "ENST00000340871.8",
"protein_id": "ENSP00000341362.4",
"transcript_support_level": 2,
"aa_start": 504,
"aa_end": null,
"aa_length": 667,
"cds_start": 1511,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340871.8"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NVL",
"gene_hgnc_id": 8070,
"hgvs_c": "c.1511G>A",
"hgvs_p": "p.Arg504Gln",
"transcript": "ENST00000482491.5",
"protein_id": "ENSP00000417213.2",
"transcript_support_level": 5,
"aa_start": 504,
"aa_end": null,
"aa_length": 667,
"cds_start": 1511,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000482491.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NVL",
"gene_hgnc_id": 8070,
"hgvs_c": "c.1487G>A",
"hgvs_p": "p.Arg496Gln",
"transcript": "ENST00000469968.5",
"protein_id": "ENSP00000419420.2",
"transcript_support_level": 5,
"aa_start": 496,
"aa_end": null,
"aa_length": 659,
"cds_start": 1487,
"cds_end": null,
"cds_length": 1980,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000469968.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NVL",
"gene_hgnc_id": 8070,
"hgvs_c": "c.173G>A",
"hgvs_p": "p.Arg58Gln",
"transcript": "ENST00000933817.1",
"protein_id": "ENSP00000603876.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 221,
"cds_start": 173,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933817.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NVL",
"gene_hgnc_id": 8070,
"hgvs_c": "c.2261G>A",
"hgvs_p": "p.Arg754Gln",
"transcript": "XM_017001378.2",
"protein_id": "XP_016856867.1",
"transcript_support_level": null,
"aa_start": 754,
"aa_end": null,
"aa_length": 917,
"cds_start": 2261,
"cds_end": null,
"cds_length": 2754,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001378.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NVL",
"gene_hgnc_id": 8070,
"hgvs_c": "c.2180G>A",
"hgvs_p": "p.Arg727Gln",
"transcript": "XM_017001379.2",
"protein_id": "XP_016856868.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 890,
"cds_start": 2180,
"cds_end": null,
"cds_length": 2673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001379.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NVL",
"gene_hgnc_id": 8070,
"hgvs_c": "c.2261G>A",
"hgvs_p": "p.Arg754Gln",
"transcript": "XM_017001380.3",
"protein_id": "XP_016856869.1",
"transcript_support_level": null,
"aa_start": 754,
"aa_end": null,
"aa_length": 889,
"cds_start": 2261,
"cds_end": null,
"cds_length": 2670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001380.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NVL",
"gene_hgnc_id": 8070,
"hgvs_c": "c.2159G>A",
"hgvs_p": "p.Arg720Gln",
"transcript": "XM_011544196.1",
"protein_id": "XP_011542498.1",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
"aa_length": 883,
"cds_start": 2159,
"cds_end": null,
"cds_length": 2652,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544196.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NVL",
"gene_hgnc_id": 8070,
"hgvs_c": "c.1946G>A",
"hgvs_p": "p.Arg649Gln",
"transcript": "XM_017001383.2",
"protein_id": "XP_016856872.1",
"transcript_support_level": null,
"aa_start": 649,
"aa_end": null,
"aa_length": 812,
"cds_start": 1946,
"cds_end": null,
"cds_length": 2439,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001383.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NVL",
"gene_hgnc_id": 8070,
"hgvs_c": "c.2261G>A",
"hgvs_p": "p.Arg754Gln",
"transcript": "XM_017001384.2",
"protein_id": "XP_016856873.1",
"transcript_support_level": null,
"aa_start": 754,
"aa_end": null,
"aa_length": 789,
"cds_start": 2261,
"cds_end": null,
"cds_length": 2370,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001384.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NVL",
"gene_hgnc_id": 8070,
"hgvs_c": "c.1805G>A",
"hgvs_p": "p.Arg602Gln",
"transcript": "XM_047421613.1",
"protein_id": "XP_047277569.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 765,
"cds_start": 1805,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421613.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NVL",
"gene_hgnc_id": 8070,
"hgvs_c": "c.2180G>A",
"hgvs_p": "p.Arg727Gln",
"transcript": "XM_047421618.1",
"protein_id": "XP_047277574.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 762,
"cds_start": 2180,
"cds_end": null,
"cds_length": 2289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421618.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NVL",
"gene_hgnc_id": 8070,
"hgvs_c": "c.2261G>A",
"hgvs_p": "p.Arg754Gln",
"transcript": "XM_017001385.3",
"protein_id": "XP_016856874.1",
"transcript_support_level": null,
"aa_start": 754,
"aa_end": null,
"aa_length": 756,
"cds_start": 2261,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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{
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{
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{
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{
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{
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},
{
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"consequences": [
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],
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"gene_symbol": "NVL",
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"hgvs_c": "c.1576-7279G>A",
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"transcript": "ENST00000933816.1",
"protein_id": "ENSP00000603875.1",
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"cds_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000933816.1"
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],
"gene_symbol": "NVL",
"gene_hgnc_id": 8070,
"dbsnp": "rs376797399",
"frequency_reference_population": 0.000011772009,
"hom_count_reference_population": 0,
"allele_count_reference_population": 19,
"gnomad_exomes_af": 0.0000116295,
"gnomad_genomes_af": 0.0000131404,
"gnomad_exomes_ac": 17,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1778220534324646,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.234,
"revel_prediction": "Benign",
"alphamissense_score": 0.0925,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.2,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.583,
"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_002533.4",
"gene_symbol": "NVL",
"hgnc_id": 8070,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2078G>A",
"hgvs_p": "p.Arg693Gln"
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],
"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
}