← 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: 10-74200777-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=74200777&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 74200777,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_006721.4",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"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": "ADK",
"gene_hgnc_id": 257,
"hgvs_c": "c.79T>C",
"hgvs_p": "p.Phe27Leu",
"transcript": "NM_006721.4",
"protein_id": "NP_006712.2",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 362,
"cds_start": 79,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000539909.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006721.4"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"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": "ADK",
"gene_hgnc_id": 257,
"hgvs_c": "c.79T>C",
"hgvs_p": "p.Phe27Leu",
"transcript": "ENST00000539909.6",
"protein_id": "ENSP00000443965.2",
"transcript_support_level": 2,
"aa_start": 27,
"aa_end": null,
"aa_length": 362,
"cds_start": 79,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006721.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539909.6"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADK",
"gene_hgnc_id": 257,
"hgvs_c": "c.79T>C",
"hgvs_p": "p.Phe27Leu",
"transcript": "ENST00000286621.7",
"protein_id": "ENSP00000286621.3",
"transcript_support_level": 1,
"aa_start": 27,
"aa_end": null,
"aa_length": 347,
"cds_start": 79,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000286621.7"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "ADK",
"gene_hgnc_id": 257,
"hgvs_c": "c.28T>C",
"hgvs_p": "p.Phe10Leu",
"transcript": "ENST00000372734.5",
"protein_id": "ENSP00000361819.3",
"transcript_support_level": 1,
"aa_start": 10,
"aa_end": null,
"aa_length": 345,
"cds_start": 28,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372734.5"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADK",
"gene_hgnc_id": 257,
"hgvs_c": "c.79T>C",
"hgvs_p": "p.Phe27Leu",
"transcript": "ENST00000960305.1",
"protein_id": "ENSP00000630364.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 373,
"cds_start": 79,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960305.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADK",
"gene_hgnc_id": 257,
"hgvs_c": "c.28T>C",
"hgvs_p": "p.Phe10Leu",
"transcript": "ENST00000541550.6",
"protein_id": "ENSP00000438321.2",
"transcript_support_level": 2,
"aa_start": 10,
"aa_end": null,
"aa_length": 356,
"cds_start": 28,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541550.6"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "ADK",
"gene_hgnc_id": 257,
"hgvs_c": "c.79T>C",
"hgvs_p": "p.Phe27Leu",
"transcript": "ENST00000854556.1",
"protein_id": "ENSP00000524615.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 350,
"cds_start": 79,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854556.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "ADK",
"gene_hgnc_id": 257,
"hgvs_c": "c.28T>C",
"hgvs_p": "p.Phe10Leu",
"transcript": "NM_001123.4",
"protein_id": "NP_001114.2",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 345,
"cds_start": 28,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001123.4"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "ADK",
"gene_hgnc_id": 257,
"hgvs_c": "c.28T>C",
"hgvs_p": "p.Phe10Leu",
"transcript": "NM_001202449.2",
"protein_id": "NP_001189378.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 327,
"cds_start": 28,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001202449.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "ADK",
"gene_hgnc_id": 257,
"hgvs_c": "c.28T>C",
"hgvs_p": "p.Phe10Leu",
"transcript": "ENST00000673027.1",
"protein_id": "ENSP00000500201.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 327,
"cds_start": 28,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673027.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "ADK",
"gene_hgnc_id": 257,
"hgvs_c": "c.79T>C",
"hgvs_p": "p.Phe27Leu",
"transcript": "NM_001202450.2",
"protein_id": "NP_001189379.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 305,
"cds_start": 79,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001202450.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "ADK",
"gene_hgnc_id": 257,
"hgvs_c": "c.79T>C",
"hgvs_p": "p.Phe27Leu",
"transcript": "ENST00000672429.1",
"protein_id": "ENSP00000500292.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 305,
"cds_start": 79,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672429.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "ADK",
"gene_hgnc_id": 257,
"hgvs_c": "c.79T>C",
"hgvs_p": "p.Phe27Leu",
"transcript": "NM_001369123.1",
"protein_id": "NP_001356052.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 294,
"cds_start": 79,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369123.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "ADK",
"gene_hgnc_id": 257,
"hgvs_c": "c.79T>C",
"hgvs_p": "p.Phe27Leu",
"transcript": "ENST00000673352.1",
"protein_id": "ENSP00000500056.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 294,
"cds_start": 79,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673352.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "ADK",
"gene_hgnc_id": 257,
"hgvs_c": "c.28T>C",
"hgvs_p": "p.Phe10Leu",
"transcript": "NM_001369124.1",
"protein_id": "NP_001356053.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 288,
"cds_start": 28,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369124.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "ADK",
"gene_hgnc_id": 257,
"hgvs_c": "c.79T>C",
"hgvs_p": "p.Phe27Leu",
"transcript": "XM_017015698.2",
"protein_id": "XP_016871187.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 348,
"cds_start": 79,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015698.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "ADK",
"gene_hgnc_id": 257,
"hgvs_c": "c.28T>C",
"hgvs_p": "p.Phe10Leu",
"transcript": "XM_047424620.1",
"protein_id": "XP_047280576.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 331,
"cds_start": 28,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424620.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "ADK",
"gene_hgnc_id": 257,
"hgvs_c": "c.28T>C",
"hgvs_p": "p.Phe10Leu",
"transcript": "XM_017015702.2",
"protein_id": "XP_016871191.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 277,
"cds_start": 28,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015702.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADK",
"gene_hgnc_id": 257,
"hgvs_c": "c.79T>C",
"hgvs_p": "p.Phe27Leu",
"transcript": "XM_017015704.2",
"protein_id": "XP_016871193.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 246,
"cds_start": 79,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015704.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADK",
"gene_hgnc_id": 257,
"hgvs_c": "c.79T>C",
"hgvs_p": "p.Phe27Leu",
"transcript": "XM_017015705.2",
"protein_id": "XP_016871194.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 237,
"cds_start": 79,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015705.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADK",
"gene_hgnc_id": 257,
"hgvs_c": "c.28T>C",
"hgvs_p": "p.Phe10Leu",
"transcript": "XM_017015706.2",
"protein_id": "XP_016871195.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 229,
"cds_start": 28,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015706.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADK",
"gene_hgnc_id": 257,
"hgvs_c": "c.28T>C",
"hgvs_p": "p.Phe10Leu",
"transcript": "XM_047424621.1",
"protein_id": "XP_047280577.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 220,
"cds_start": 28,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424621.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADK",
"gene_hgnc_id": 257,
"hgvs_c": "c.-6T>C",
"hgvs_p": null,
"transcript": "ENST00000478611.2",
"protein_id": "ENSP00000500114.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 36,
"cds_start": null,
"cds_end": null,
"cds_length": 112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000478611.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ADK",
"gene_hgnc_id": 257,
"hgvs_c": "c.66-23761T>C",
"hgvs_p": null,
"transcript": "ENST00000854555.1",
"protein_id": "ENSP00000524614.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 337,
"cds_start": null,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854555.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ADK",
"gene_hgnc_id": 257,
"hgvs_c": "c.66-23761T>C",
"hgvs_p": null,
"transcript": "ENST00000933492.1",
"protein_id": "ENSP00000603551.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 280,
"cds_start": null,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933492.1"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADK",
"gene_hgnc_id": 257,
"hgvs_c": "n.28T>C",
"hgvs_p": null,
"transcript": "ENST00000672394.2",
"protein_id": "ENSP00000500390.2",
"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": "ENST00000672394.2"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADK",
"gene_hgnc_id": 257,
"hgvs_c": "n.28T>C",
"hgvs_p": null,
"transcript": "ENST00000672920.1",
"protein_id": "ENSP00000500141.1",
"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": "ENST00000672920.1"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADK",
"gene_hgnc_id": 257,
"hgvs_c": "n.28T>C",
"hgvs_p": null,
"transcript": "ENST00000673310.1",
"protein_id": "ENSP00000500097.1",
"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": "ENST00000673310.1"
}
],
"gene_symbol": "ADK",
"gene_hgnc_id": 257,
"dbsnp": "rs781661838",
"frequency_reference_population": 0.000019867508,
"hom_count_reference_population": 0,
"allele_count_reference_population": 32,
"gnomad_exomes_af": 0.000019198,
"gnomad_genomes_af": 0.0000262833,
"gnomad_exomes_ac": 28,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5085159540176392,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.473,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8261,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.23,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.447,
"phylop100way_prediction": "Uncertain_significance",
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006721.4",
"gene_symbol": "ADK",
"hgnc_id": 257,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.79T>C",
"hgvs_p": "p.Phe27Leu"
}
],
"clinvar_disease": "Adenosine kinase deficiency",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Adenosine kinase deficiency",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}