← Back to variant description
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: 20-1454972-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=1454972&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 1454972,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001206736.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "c.439C>A",
"hgvs_p": "p.Pro147Thr",
"transcript": "NM_016143.5",
"protein_id": "NP_057227.2",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 370,
"cds_start": 439,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 464,
"cdna_end": null,
"cdna_length": 2721,
"mane_select": "ENST00000216879.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016143.5"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "c.439C>A",
"hgvs_p": "p.Pro147Thr",
"transcript": "ENST00000216879.9",
"protein_id": "ENSP00000216879.4",
"transcript_support_level": 1,
"aa_start": 147,
"aa_end": null,
"aa_length": 370,
"cds_start": 439,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 464,
"cdna_end": null,
"cdna_length": 2721,
"mane_select": "NM_016143.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000216879.9"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "c.439C>A",
"hgvs_p": "p.Pro147Thr",
"transcript": "ENST00000926113.1",
"protein_id": "ENSP00000596172.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 389,
"cds_start": 439,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 464,
"cdna_end": null,
"cdna_length": 1447,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926113.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "c.475C>A",
"hgvs_p": "p.Pro159Thr",
"transcript": "ENST00000855884.1",
"protein_id": "ENSP00000525943.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 382,
"cds_start": 475,
"cds_end": null,
"cds_length": 1149,
"cdna_start": 500,
"cdna_end": null,
"cdna_length": 2754,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855884.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "c.439C>A",
"hgvs_p": "p.Pro147Thr",
"transcript": "ENST00000855889.1",
"protein_id": "ENSP00000525948.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 382,
"cds_start": 439,
"cds_end": null,
"cds_length": 1149,
"cdna_start": 448,
"cdna_end": null,
"cdna_length": 1368,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855889.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "c.445C>A",
"hgvs_p": "p.Pro149Thr",
"transcript": "NM_001206736.2",
"protein_id": "NP_001193665.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 372,
"cds_start": 445,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 470,
"cdna_end": null,
"cdna_length": 2727,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001206736.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "c.445C>A",
"hgvs_p": "p.Pro149Thr",
"transcript": "ENST00000476071.5",
"protein_id": "ENSP00000418529.1",
"transcript_support_level": 5,
"aa_start": 149,
"aa_end": null,
"aa_length": 372,
"cds_start": 445,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 539,
"cdna_end": null,
"cdna_length": 2800,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000476071.5"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "c.439C>A",
"hgvs_p": "p.Pro147Thr",
"transcript": "ENST00000855888.1",
"protein_id": "ENSP00000525947.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 368,
"cds_start": 439,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 448,
"cdna_end": null,
"cdna_length": 1326,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855888.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "c.421C>A",
"hgvs_p": "p.Pro141Thr",
"transcript": "ENST00000855885.1",
"protein_id": "ENSP00000525944.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 364,
"cds_start": 421,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 446,
"cdna_end": null,
"cdna_length": 1358,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855885.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "c.385C>A",
"hgvs_p": "p.Pro129Thr",
"transcript": "ENST00000855887.1",
"protein_id": "ENSP00000525946.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 352,
"cds_start": 385,
"cds_end": null,
"cds_length": 1059,
"cdna_start": 405,
"cdna_end": null,
"cdna_length": 1289,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855887.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "c.439C>A",
"hgvs_p": "p.Pro147Thr",
"transcript": "NM_018839.5",
"protein_id": "NP_061327.2",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 339,
"cds_start": 439,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 464,
"cdna_end": null,
"cdna_length": 2628,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018839.5"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "c.439C>A",
"hgvs_p": "p.Pro147Thr",
"transcript": "ENST00000353088.6",
"protein_id": "ENSP00000338643.2",
"transcript_support_level": 2,
"aa_start": 147,
"aa_end": null,
"aa_length": 339,
"cds_start": 439,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 443,
"cdna_end": null,
"cdna_length": 2611,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000353088.6"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "c.439C>A",
"hgvs_p": "p.Pro147Thr",
"transcript": "ENST00000926115.1",
"protein_id": "ENSP00000596174.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 324,
"cds_start": 439,
"cds_end": null,
"cds_length": 975,
"cdna_start": 448,
"cdna_end": null,
"cdna_length": 1222,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926115.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "c.439C>A",
"hgvs_p": "p.Pro147Thr",
"transcript": "ENST00000965405.1",
"protein_id": "ENSP00000635464.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 315,
"cds_start": 439,
"cds_end": null,
"cds_length": 948,
"cdna_start": 571,
"cdna_end": null,
"cdna_length": 1328,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965405.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "c.439C>A",
"hgvs_p": "p.Pro147Thr",
"transcript": "ENST00000855886.1",
"protein_id": "ENSP00000525945.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 236,
"cds_start": 439,
"cds_end": null,
"cds_length": 711,
"cdna_start": 459,
"cdna_end": null,
"cdna_length": 969,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855886.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "c.454C>A",
"hgvs_p": "p.Pro152Thr",
"transcript": "XM_011529300.3",
"protein_id": "XP_011527602.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 375,
"cds_start": 454,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 479,
"cdna_end": null,
"cdna_length": 2736,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529300.3"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "c.448C>A",
"hgvs_p": "p.Pro150Thr",
"transcript": "XM_011529301.3",
"protein_id": "XP_011527603.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 373,
"cds_start": 448,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 473,
"cdna_end": null,
"cdna_length": 2730,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529301.3"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "c.295C>A",
"hgvs_p": "p.Pro99Thr",
"transcript": "XM_011529302.3",
"protein_id": "XP_011527604.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 322,
"cds_start": 295,
"cds_end": null,
"cds_length": 969,
"cdna_start": 2653,
"cdna_end": null,
"cdna_length": 4910,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529302.3"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "c.292C>A",
"hgvs_p": "p.Pro98Thr",
"transcript": "XM_047440302.1",
"protein_id": "XP_047296258.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 321,
"cds_start": 292,
"cds_end": null,
"cds_length": 966,
"cdna_start": 298,
"cdna_end": null,
"cdna_length": 2555,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440302.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "c.289C>A",
"hgvs_p": "p.Pro97Thr",
"transcript": "XM_017027956.2",
"protein_id": "XP_016883445.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 320,
"cds_start": 289,
"cds_end": null,
"cds_length": 963,
"cdna_start": 2646,
"cdna_end": null,
"cdna_length": 4903,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017027956.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "c.286C>A",
"hgvs_p": "p.Pro96Thr",
"transcript": "XM_047440303.1",
"protein_id": "XP_047296259.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 319,
"cds_start": 286,
"cds_end": null,
"cds_length": 960,
"cdna_start": 292,
"cdna_end": null,
"cdna_length": 2549,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440303.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "c.184C>A",
"hgvs_p": "p.Pro62Thr",
"transcript": "XM_017027958.3",
"protein_id": "XP_016883447.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 285,
"cds_start": 184,
"cds_end": null,
"cds_length": 858,
"cdna_start": 1742,
"cdna_end": null,
"cdna_length": 3999,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017027958.3"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "c.454C>A",
"hgvs_p": "p.Pro152Thr",
"transcript": "XM_047440304.1",
"protein_id": "XP_047296260.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 279,
"cds_start": 454,
"cds_end": null,
"cds_length": 840,
"cdna_start": 479,
"cdna_end": null,
"cdna_length": 1241,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440304.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "c.112C>A",
"hgvs_p": "p.Pro38Thr",
"transcript": "XM_006723593.4",
"protein_id": "XP_006723656.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 261,
"cds_start": 112,
"cds_end": null,
"cds_length": 786,
"cdna_start": 277,
"cdna_end": null,
"cdna_length": 2534,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006723593.4"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "c.112C>A",
"hgvs_p": "p.Pro38Thr",
"transcript": "XM_047440305.1",
"protein_id": "XP_047296261.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 261,
"cds_start": 112,
"cds_end": null,
"cds_length": 786,
"cdna_start": 192,
"cdna_end": null,
"cdna_length": 2449,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440305.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "c.106C>A",
"hgvs_p": "p.Pro36Thr",
"transcript": "XM_047440306.1",
"protein_id": "XP_047296262.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 259,
"cds_start": 106,
"cds_end": null,
"cds_length": 780,
"cdna_start": 156,
"cdna_end": null,
"cdna_length": 2413,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440306.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "c.106C>A",
"hgvs_p": "p.Pro36Thr",
"transcript": "XM_047440307.1",
"protein_id": "XP_047296263.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 259,
"cds_start": 106,
"cds_end": null,
"cds_length": 780,
"cdna_start": 186,
"cdna_end": null,
"cdna_length": 2443,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440307.1"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "c.106-9287C>A",
"hgvs_p": null,
"transcript": "ENST00000926114.1",
"protein_id": "ENSP00000596173.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 95,
"cds_start": null,
"cds_end": null,
"cds_length": 288,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 556,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926114.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "n.439C>A",
"hgvs_p": null,
"transcript": "ENST00000381653.9",
"protein_id": "ENSP00000434067.1",
"transcript_support_level": 5,
"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": 1446,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000381653.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "n.1538C>A",
"hgvs_p": null,
"transcript": "ENST00000461211.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 3799,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000461211.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "n.*330C>A",
"hgvs_p": null,
"transcript": "ENST00000470376.5",
"protein_id": "ENSP00000473400.1",
"transcript_support_level": 3,
"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": 845,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000470376.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "n.*278C>A",
"hgvs_p": null,
"transcript": "ENST00000489203.2",
"protein_id": "ENSP00000473616.1",
"transcript_support_level": 3,
"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": 694,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000489203.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "n.633C>A",
"hgvs_p": null,
"transcript": "ENST00000553571.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 752,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000553571.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "n.*233C>A",
"hgvs_p": null,
"transcript": "ENST00000555568.5",
"protein_id": "ENSP00000451675.1",
"transcript_support_level": 3,
"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": 863,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000555568.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "n.*138C>A",
"hgvs_p": null,
"transcript": "ENST00000555944.5",
"protein_id": "ENSP00000452019.1",
"transcript_support_level": 2,
"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": 2588,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000555944.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "n.271C>A",
"hgvs_p": null,
"transcript": "NR_038164.2",
"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": 2528,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_038164.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "n.*330C>A",
"hgvs_p": null,
"transcript": "ENST00000470376.5",
"protein_id": "ENSP00000473400.1",
"transcript_support_level": 3,
"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": 845,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000470376.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "n.*278C>A",
"hgvs_p": null,
"transcript": "ENST00000489203.2",
"protein_id": "ENSP00000473616.1",
"transcript_support_level": 3,
"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": 694,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000489203.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "n.*233C>A",
"hgvs_p": null,
"transcript": "ENST00000555568.5",
"protein_id": "ENSP00000451675.1",
"transcript_support_level": 3,
"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": 863,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000555568.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"hgvs_c": "n.*138C>A",
"hgvs_p": null,
"transcript": "ENST00000555944.5",
"protein_id": "ENSP00000452019.1",
"transcript_support_level": 2,
"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": 2588,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000555944.5"
}
],
"gene_symbol": "NSFL1C",
"gene_hgnc_id": 15912,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.13130906224250793,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.029,
"revel_prediction": "Benign",
"alphamissense_score": 0.0661,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.476,
"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_001206736.2",
"gene_symbol": "NSFL1C",
"hgnc_id": 15912,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.445C>A",
"hgvs_p": "p.Pro149Thr"
}
],
"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
}