← 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: 2-231461706-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=231461706&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 231461706,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_005381.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "c.447G>T",
"hgvs_p": "p.Glu149Asp",
"transcript": "NM_005381.3",
"protein_id": "NP_005372.2",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 710,
"cds_start": 447,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000322723.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005381.3"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "c.447G>T",
"hgvs_p": "p.Glu149Asp",
"transcript": "ENST00000322723.9",
"protein_id": "ENSP00000318195.4",
"transcript_support_level": 2,
"aa_start": 149,
"aa_end": null,
"aa_length": 710,
"cds_start": 447,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005381.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000322723.9"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "c.447G>T",
"hgvs_p": "p.Glu149Asp",
"transcript": "ENST00000896140.1",
"protein_id": "ENSP00000566199.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 750,
"cds_start": 447,
"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": "ENST00000896140.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "c.447G>T",
"hgvs_p": "p.Glu149Asp",
"transcript": "ENST00000933641.1",
"protein_id": "ENSP00000603700.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 741,
"cds_start": 447,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933641.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "c.447G>T",
"hgvs_p": "p.Glu149Asp",
"transcript": "ENST00000356936.6",
"protein_id": "ENSP00000349410.6",
"transcript_support_level": 3,
"aa_start": 149,
"aa_end": null,
"aa_length": 734,
"cds_start": 447,
"cds_end": null,
"cds_length": 2205,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356936.6"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "c.447G>T",
"hgvs_p": "p.Glu149Asp",
"transcript": "ENST00000933640.1",
"protein_id": "ENSP00000603699.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 732,
"cds_start": 447,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933640.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "c.447G>T",
"hgvs_p": "p.Glu149Asp",
"transcript": "ENST00000933637.1",
"protein_id": "ENSP00000603696.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 719,
"cds_start": 447,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933637.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "c.447G>T",
"hgvs_p": "p.Glu149Asp",
"transcript": "ENST00000896143.1",
"protein_id": "ENSP00000566202.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 717,
"cds_start": 447,
"cds_end": null,
"cds_length": 2154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896143.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "c.447G>T",
"hgvs_p": "p.Glu149Asp",
"transcript": "ENST00000896142.1",
"protein_id": "ENSP00000566201.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 709,
"cds_start": 447,
"cds_end": null,
"cds_length": 2130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896142.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "c.447G>T",
"hgvs_p": "p.Glu149Asp",
"transcript": "ENST00000896141.1",
"protein_id": "ENSP00000566200.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 708,
"cds_start": 447,
"cds_end": null,
"cds_length": 2127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896141.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "c.447G>T",
"hgvs_p": "p.Glu149Asp",
"transcript": "ENST00000896145.1",
"protein_id": "ENSP00000566204.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 708,
"cds_start": 447,
"cds_end": null,
"cds_length": 2127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896145.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "c.447G>T",
"hgvs_p": "p.Glu149Asp",
"transcript": "ENST00000896138.1",
"protein_id": "ENSP00000566197.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 704,
"cds_start": 447,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896138.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "c.447G>T",
"hgvs_p": "p.Glu149Asp",
"transcript": "ENST00000896139.1",
"protein_id": "ENSP00000566198.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 701,
"cds_start": 447,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896139.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "c.447G>T",
"hgvs_p": "p.Glu149Asp",
"transcript": "ENST00000678828.1",
"protein_id": "ENSP00000503432.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 695,
"cds_start": 447,
"cds_end": null,
"cds_length": 2088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678828.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "c.399G>T",
"hgvs_p": "p.Glu133Asp",
"transcript": "ENST00000417652.6",
"protein_id": "ENSP00000392747.2",
"transcript_support_level": 4,
"aa_start": 133,
"aa_end": null,
"aa_length": 694,
"cds_start": 399,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000417652.6"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "c.399G>T",
"hgvs_p": "p.Glu133Asp",
"transcript": "ENST00000436894.2",
"protein_id": "ENSP00000401322.2",
"transcript_support_level": 4,
"aa_start": 133,
"aa_end": null,
"aa_length": 694,
"cds_start": 399,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000436894.2"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "c.399G>T",
"hgvs_p": "p.Glu133Asp",
"transcript": "ENST00000453992.6",
"protein_id": "ENSP00000413775.2",
"transcript_support_level": 4,
"aa_start": 133,
"aa_end": null,
"aa_length": 694,
"cds_start": 399,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000453992.6"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "c.399G>T",
"hgvs_p": "p.Glu133Asp",
"transcript": "ENST00000454824.6",
"protein_id": "ENSP00000401620.2",
"transcript_support_level": 3,
"aa_start": 133,
"aa_end": null,
"aa_length": 694,
"cds_start": 399,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000454824.6"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "c.399G>T",
"hgvs_p": "p.Glu133Asp",
"transcript": "ENST00000679348.1",
"protein_id": "ENSP00000504694.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 694,
"cds_start": 399,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679348.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "c.447G>T",
"hgvs_p": "p.Glu149Asp",
"transcript": "ENST00000678246.1",
"protein_id": "ENSP00000503707.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 689,
"cds_start": 447,
"cds_end": null,
"cds_length": 2070,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678246.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "c.447G>T",
"hgvs_p": "p.Glu149Asp",
"transcript": "ENST00000896144.1",
"protein_id": "ENSP00000566203.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 689,
"cds_start": 447,
"cds_end": null,
"cds_length": 2070,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896144.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "c.447G>T",
"hgvs_p": "p.Glu149Asp",
"transcript": "ENST00000968622.1",
"protein_id": "ENSP00000638681.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 688,
"cds_start": 447,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968622.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "c.447G>T",
"hgvs_p": "p.Glu149Asp",
"transcript": "ENST00000896146.1",
"protein_id": "ENSP00000566205.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 681,
"cds_start": 447,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896146.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "c.447G>T",
"hgvs_p": "p.Glu149Asp",
"transcript": "ENST00000933644.1",
"protein_id": "ENSP00000603703.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 681,
"cds_start": 447,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933644.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "c.447G>T",
"hgvs_p": "p.Glu149Asp",
"transcript": "ENST00000933636.1",
"protein_id": "ENSP00000603695.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 679,
"cds_start": 447,
"cds_end": null,
"cds_length": 2040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933636.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "c.447G>T",
"hgvs_p": "p.Glu149Asp",
"transcript": "ENST00000933635.1",
"protein_id": "ENSP00000603694.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 673,
"cds_start": 447,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933635.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "c.447G>T",
"hgvs_p": "p.Glu149Asp",
"transcript": "ENST00000676690.1",
"protein_id": "ENSP00000504613.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 672,
"cds_start": 447,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676690.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "c.330G>T",
"hgvs_p": "p.Glu110Asp",
"transcript": "ENST00000933632.1",
"protein_id": "ENSP00000603691.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 671,
"cds_start": 330,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933632.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "c.447G>T",
"hgvs_p": "p.Glu149Asp",
"transcript": "ENST00000933634.1",
"protein_id": "ENSP00000603693.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 657,
"cds_start": 447,
"cds_end": null,
"cds_length": 1974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933634.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "c.447G>T",
"hgvs_p": "p.Glu149Asp",
"transcript": "ENST00000933639.1",
"protein_id": "ENSP00000603698.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 647,
"cds_start": 447,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933639.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "c.447G>T",
"hgvs_p": "p.Glu149Asp",
"transcript": "ENST00000968621.1",
"protein_id": "ENSP00000638680.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 645,
"cds_start": 447,
"cds_end": null,
"cds_length": 1938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968621.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "c.447G>T",
"hgvs_p": "p.Glu149Asp",
"transcript": "ENST00000968623.1",
"protein_id": "ENSP00000638682.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 623,
"cds_start": 447,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968623.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "c.447G>T",
"hgvs_p": "p.Glu149Asp",
"transcript": "ENST00000678364.1",
"protein_id": "ENSP00000504707.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 616,
"cds_start": 447,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678364.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "c.447G>T",
"hgvs_p": "p.Glu149Asp",
"transcript": "ENST00000933633.1",
"protein_id": "ENSP00000603692.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 518,
"cds_start": 447,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933633.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "c.447G>T",
"hgvs_p": "p.Glu149Asp",
"transcript": "ENST00000933643.1",
"protein_id": "ENSP00000603702.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 378,
"cds_start": 447,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933643.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "c.447G>T",
"hgvs_p": "p.Glu149Asp",
"transcript": "ENST00000933642.1",
"protein_id": "ENSP00000603701.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 321,
"cds_start": 447,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933642.1"
},
{
"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": 14,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "c.70-28G>T",
"hgvs_p": null,
"transcript": "ENST00000933638.1",
"protein_id": "ENSP00000603697.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 575,
"cds_start": null,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933638.1"
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "c.34+1595G>T",
"hgvs_p": null,
"transcript": "ENST00000933645.1",
"protein_id": "ENSP00000603704.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 24,
"cds_start": null,
"cds_end": null,
"cds_length": 75,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933645.1"
},
{
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "n.1387G>T",
"hgvs_p": null,
"transcript": "ENST00000461347.5",
"protein_id": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000461347.5"
},
{
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "n.612G>T",
"hgvs_p": null,
"transcript": "ENST00000676514.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000676514.1"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "n.612G>T",
"hgvs_p": null,
"transcript": "ENST00000676798.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000676798.1"
},
{
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "n.447G>T",
"hgvs_p": null,
"transcript": "ENST00000676913.1",
"protein_id": "ENSP00000503098.1",
"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": "ENST00000676913.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "n.645G>T",
"hgvs_p": null,
"transcript": "ENST00000677786.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000677786.1"
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "n.447G>T",
"hgvs_p": null,
"transcript": "ENST00000678131.1",
"protein_id": "ENSP00000504385.1",
"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": "ENST00000678131.1"
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "n.447G>T",
"hgvs_p": null,
"transcript": "ENST00000678405.1",
"protein_id": "ENSP00000503250.1",
"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": "ENST00000678405.1"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "n.645G>T",
"hgvs_p": null,
"transcript": "ENST00000678729.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000678729.1"
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCL",
"gene_hgnc_id": 7667,
"hgvs_c": "n.447G>T",
"hgvs_p": null,
"transcript": "ENST00000678849.1",
"protein_id": "ENSP00000503057.1",
"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": "ENST00000678849.1"
}
],
"gene_symbol": "NCL",
"gene_hgnc_id": 7667,
"dbsnp": "rs1131171",
"frequency_reference_population": 0.0000012393201,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.84105e-7,
"gnomad_genomes_af": 0.00000657791,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.031604886054992676,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.088,
"revel_prediction": "Benign",
"alphamissense_score": 0.0543,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.66,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -6.38,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_005381.3",
"gene_symbol": "NCL",
"hgnc_id": 7667,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.447G>T",
"hgvs_p": "p.Glu149Asp"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}