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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: 3-42601014-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=42601014&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 42601014,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001349124.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKTR",
"gene_hgnc_id": 7833,
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Ala3Val",
"transcript": "NM_005385.4",
"protein_id": "NP_005376.2",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 1462,
"cds_start": 8,
"cds_end": null,
"cds_length": 4389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000232978.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005385.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKTR",
"gene_hgnc_id": 7833,
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Ala3Val",
"transcript": "ENST00000232978.13",
"protein_id": "ENSP00000232978.8",
"transcript_support_level": 1,
"aa_start": 3,
"aa_end": null,
"aa_length": 1462,
"cds_start": 8,
"cds_end": null,
"cds_length": 4389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005385.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000232978.13"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKTR",
"gene_hgnc_id": 7833,
"hgvs_c": "n.92C>T",
"hgvs_p": null,
"transcript": "ENST00000459950.1",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000459950.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKTR",
"gene_hgnc_id": 7833,
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Ala3Val",
"transcript": "NM_001349124.2",
"protein_id": "NP_001336053.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 1463,
"cds_start": 8,
"cds_end": null,
"cds_length": 4392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349124.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKTR",
"gene_hgnc_id": 7833,
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Ala3Val",
"transcript": "ENST00000937553.1",
"protein_id": "ENSP00000607612.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 1463,
"cds_start": 8,
"cds_end": null,
"cds_length": 4392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937553.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKTR",
"gene_hgnc_id": 7833,
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Ala3Val",
"transcript": "ENST00000970640.1",
"protein_id": "ENSP00000640699.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 1463,
"cds_start": 8,
"cds_end": null,
"cds_length": 4392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970640.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKTR",
"gene_hgnc_id": 7833,
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Ala3Val",
"transcript": "ENST00000937557.1",
"protein_id": "ENSP00000607616.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 1462,
"cds_start": 8,
"cds_end": null,
"cds_length": 4389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937557.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKTR",
"gene_hgnc_id": 7833,
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Ala3Val",
"transcript": "ENST00000937556.1",
"protein_id": "ENSP00000607615.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 1452,
"cds_start": 8,
"cds_end": null,
"cds_length": 4359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937556.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKTR",
"gene_hgnc_id": 7833,
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Ala3Val",
"transcript": "ENST00000937555.1",
"protein_id": "ENSP00000607614.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 1451,
"cds_start": 8,
"cds_end": null,
"cds_length": 4356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937555.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKTR",
"gene_hgnc_id": 7833,
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Ala3Val",
"transcript": "ENST00000937554.1",
"protein_id": "ENSP00000607613.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 1432,
"cds_start": 8,
"cds_end": null,
"cds_length": 4299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937554.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKTR",
"gene_hgnc_id": 7833,
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Ala3Val",
"transcript": "ENST00000970641.1",
"protein_id": "ENSP00000640700.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 371,
"cds_start": 8,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970641.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKTR",
"gene_hgnc_id": 7833,
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Ala3Val",
"transcript": "ENST00000970642.1",
"protein_id": "ENSP00000640701.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 286,
"cds_start": 8,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970642.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKTR",
"gene_hgnc_id": 7833,
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Ala3Val",
"transcript": "ENST00000442970.5",
"protein_id": "ENSP00000390259.1",
"transcript_support_level": 2,
"aa_start": 3,
"aa_end": null,
"aa_length": 105,
"cds_start": 8,
"cds_end": null,
"cds_length": 318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000442970.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKTR",
"gene_hgnc_id": 7833,
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Ala3Val",
"transcript": "ENST00000445842.1",
"protein_id": "ENSP00000408660.1",
"transcript_support_level": 5,
"aa_start": 3,
"aa_end": null,
"aa_length": 103,
"cds_start": 8,
"cds_end": null,
"cds_length": 314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000445842.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKTR",
"gene_hgnc_id": 7833,
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Ala3Val",
"transcript": "XM_024453539.2",
"protein_id": "XP_024309307.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 1463,
"cds_start": 8,
"cds_end": null,
"cds_length": 4392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453539.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKTR",
"gene_hgnc_id": 7833,
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Ala3Val",
"transcript": "XM_006713171.3",
"protein_id": "XP_006713234.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 1436,
"cds_start": 8,
"cds_end": null,
"cds_length": 4311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006713171.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKTR",
"gene_hgnc_id": 7833,
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Ala3Val",
"transcript": "XM_017006474.3",
"protein_id": "XP_016861963.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 1435,
"cds_start": 8,
"cds_end": null,
"cds_length": 4308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017006474.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKTR",
"gene_hgnc_id": 7833,
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Ala3Val",
"transcript": "XM_047448196.1",
"protein_id": "XP_047304152.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 317,
"cds_start": 8,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448196.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKTR",
"gene_hgnc_id": 7833,
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Ala3Val",
"transcript": "XM_047448197.1",
"protein_id": "XP_047304153.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 266,
"cds_start": 8,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448197.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKTR",
"gene_hgnc_id": 7833,
"hgvs_c": "c.-808C>T",
"hgvs_p": null,
"transcript": "NM_001349125.2",
"protein_id": "NP_001336054.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1210,
"cds_start": null,
"cds_end": null,
"cds_length": 3633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349125.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKTR",
"gene_hgnc_id": 7833,
"hgvs_c": "c.-1149C>T",
"hgvs_p": null,
"transcript": "NM_001349126.2",
"protein_id": "NP_001336055.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1094,
"cds_start": null,
"cds_end": null,
"cds_length": 3285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349126.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC22C",
"gene_hgnc_id": 16828,
"hgvs_c": "c.-45G>A",
"hgvs_p": null,
"transcript": "ENST00000970522.1",
"protein_id": "ENSP00000640581.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 336,
"cds_start": null,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970522.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
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},
{
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"canonical": false,
"protein_coding": true,
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"feature": "ENST00000417572.5"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
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"gene_symbol": "NKTR",
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"hgvs_c": "n.8C>T",
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"transcript": "ENST00000429888.5",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000429888.5"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 3,
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"gene_symbol": "NKTR",
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"transcript": "ENST00000460910.5",
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"biotype": "pseudogene",
"feature": "ENST00000460910.5"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"biotype": "retained_intron",
"feature": "ENST00000468735.6"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"gene_symbol": "NKTR",
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"hgvs_c": "n.35C>T",
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"transcript": "ENST00000478488.1",
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"biotype": "retained_intron",
"feature": "ENST00000478488.1"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"gene_symbol": "NKTR",
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"hgvs_c": "n.138C>T",
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"transcript": "ENST00000487466.5",
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"cds_start": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000487466.5"
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],
"gene_symbol": "NKTR",
"gene_hgnc_id": 7833,
"dbsnp": "rs1190657861",
"frequency_reference_population": 0.000006343125,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000561656,
"gnomad_genomes_af": 0.0000131449,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11805731058120728,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.143,
"revel_prediction": "Benign",
"alphamissense_score": 0.1874,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.885,
"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_001349124.2",
"gene_symbol": "NKTR",
"hgnc_id": 7833,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.8C>T",
"hgvs_p": "p.Ala3Val"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001201572.2",
"gene_symbol": "SEC22C",
"hgnc_id": 16828,
"effects": [
"5_prime_UTR_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.-82G>A",
"hgvs_p": null
}
],
"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
}