← 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: 12-63560545-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=63560545&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 63560545,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_173812.5",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.2244G>T",
"hgvs_p": "p.Gln748His",
"transcript": "NM_173812.5",
"protein_id": "NP_776173.3",
"transcript_support_level": null,
"aa_start": 748,
"aa_end": null,
"aa_length": 758,
"cds_start": 2244,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000324472.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173812.5"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.2244G>T",
"hgvs_p": "p.Gln748His",
"transcript": "ENST00000324472.9",
"protein_id": "ENSP00000315988.4",
"transcript_support_level": 1,
"aa_start": 748,
"aa_end": null,
"aa_length": 758,
"cds_start": 2244,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_173812.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000324472.9"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.2184G>T",
"hgvs_p": "p.Gln728His",
"transcript": "ENST00000882292.1",
"protein_id": "ENSP00000552351.1",
"transcript_support_level": null,
"aa_start": 728,
"aa_end": null,
"aa_length": 738,
"cds_start": 2184,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882292.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.2172G>T",
"hgvs_p": "p.Gln724His",
"transcript": "ENST00000961037.1",
"protein_id": "ENSP00000631096.1",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 734,
"cds_start": 2172,
"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": "ENST00000961037.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.2118G>T",
"hgvs_p": "p.Gln706His",
"transcript": "ENST00000882290.1",
"protein_id": "ENSP00000552349.1",
"transcript_support_level": null,
"aa_start": 706,
"aa_end": null,
"aa_length": 716,
"cds_start": 2118,
"cds_end": null,
"cds_length": 2151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882290.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.2112G>T",
"hgvs_p": "p.Gln704His",
"transcript": "ENST00000961030.1",
"protein_id": "ENSP00000631089.1",
"transcript_support_level": null,
"aa_start": 704,
"aa_end": null,
"aa_length": 714,
"cds_start": 2112,
"cds_end": null,
"cds_length": 2145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961030.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.2058G>T",
"hgvs_p": "p.Gln686His",
"transcript": "ENST00000882291.1",
"protein_id": "ENSP00000552350.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 696,
"cds_start": 2058,
"cds_end": null,
"cds_length": 2091,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882291.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.2046G>T",
"hgvs_p": "p.Gln682His",
"transcript": "ENST00000961035.1",
"protein_id": "ENSP00000631094.1",
"transcript_support_level": null,
"aa_start": 682,
"aa_end": null,
"aa_length": 692,
"cds_start": 2046,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961035.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.2040G>T",
"hgvs_p": "p.Gln680His",
"transcript": "ENST00000882293.1",
"protein_id": "ENSP00000552352.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 690,
"cds_start": 2040,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882293.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.2022G>T",
"hgvs_p": "p.Gln674His",
"transcript": "ENST00000961032.1",
"protein_id": "ENSP00000631091.1",
"transcript_support_level": null,
"aa_start": 674,
"aa_end": null,
"aa_length": 684,
"cds_start": 2022,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961032.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.1986G>T",
"hgvs_p": "p.Gln662His",
"transcript": "ENST00000961031.1",
"protein_id": "ENSP00000631090.1",
"transcript_support_level": null,
"aa_start": 662,
"aa_end": null,
"aa_length": 672,
"cds_start": 1986,
"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": "ENST00000961031.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.1962G>T",
"hgvs_p": "p.Gln654His",
"transcript": "ENST00000961033.1",
"protein_id": "ENSP00000631092.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 664,
"cds_start": 1962,
"cds_end": null,
"cds_length": 1995,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961033.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.1227G>T",
"hgvs_p": "p.Gln409His",
"transcript": "ENST00000961036.1",
"protein_id": "ENSP00000631095.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 419,
"cds_start": 1227,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961036.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.1101G>T",
"hgvs_p": "p.Gln367His",
"transcript": "ENST00000961034.1",
"protein_id": "ENSP00000631093.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 377,
"cds_start": 1101,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961034.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.2184G>T",
"hgvs_p": "p.Gln728His",
"transcript": "XM_024448944.2",
"protein_id": "XP_024304712.1",
"transcript_support_level": null,
"aa_start": 728,
"aa_end": null,
"aa_length": 738,
"cds_start": 2184,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448944.2"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.2118G>T",
"hgvs_p": "p.Gln706His",
"transcript": "XM_024448945.2",
"protein_id": "XP_024304713.1",
"transcript_support_level": null,
"aa_start": 706,
"aa_end": null,
"aa_length": 716,
"cds_start": 2118,
"cds_end": null,
"cds_length": 2151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448945.2"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.2094G>T",
"hgvs_p": "p.Gln698His",
"transcript": "XM_017019192.3",
"protein_id": "XP_016874681.1",
"transcript_support_level": null,
"aa_start": 698,
"aa_end": null,
"aa_length": 708,
"cds_start": 2094,
"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": "XM_017019192.3"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.1941G>T",
"hgvs_p": "p.Gln647His",
"transcript": "XM_017019193.3",
"protein_id": "XP_016874682.1",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 657,
"cds_start": 1941,
"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": "XM_017019193.3"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.1815G>T",
"hgvs_p": "p.Gln605His",
"transcript": "XM_024448946.2",
"protein_id": "XP_024304714.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 615,
"cds_start": 1815,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448946.2"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.1815G>T",
"hgvs_p": "p.Gln605His",
"transcript": "XM_024448947.2",
"protein_id": "XP_024304715.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 615,
"cds_start": 1815,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448947.2"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.1815G>T",
"hgvs_p": "p.Gln605His",
"transcript": "XM_047428722.1",
"protein_id": "XP_047284678.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 615,
"cds_start": 1815,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428722.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.1731G>T",
"hgvs_p": "p.Gln577His",
"transcript": "XM_011538215.3",
"protein_id": "XP_011536517.1",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 587,
"cds_start": 1731,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538215.3"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.1299G>T",
"hgvs_p": "p.Gln433His",
"transcript": "XM_047428728.1",
"protein_id": "XP_047284684.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 443,
"cds_start": 1299,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428728.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.1233G>T",
"hgvs_p": "p.Gln411His",
"transcript": "XM_011538218.4",
"protein_id": "XP_011536520.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 421,
"cds_start": 1233,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538218.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.*97G>T",
"hgvs_p": null,
"transcript": "XM_024448949.2",
"protein_id": "XP_024304717.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 566,
"cds_start": null,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448949.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "c.*97G>T",
"hgvs_p": null,
"transcript": "XM_047428727.1",
"protein_id": "XP_047284683.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 516,
"cds_start": null,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428727.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "n.990G>T",
"hgvs_p": null,
"transcript": "ENST00000413230.6",
"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": "ENST00000413230.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "n.*530G>T",
"hgvs_p": null,
"transcript": "ENST00000439061.6",
"protein_id": "ENSP00000437474.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000439061.6"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "n.364G>T",
"hgvs_p": null,
"transcript": "ENST00000541911.1",
"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": "ENST00000541911.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"hgvs_c": "n.*530G>T",
"hgvs_p": null,
"transcript": "ENST00000439061.6",
"protein_id": "ENSP00000437474.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000439061.6"
}
],
"gene_symbol": "DPY19L2",
"gene_hgnc_id": 19414,
"dbsnp": "rs756305185",
"frequency_reference_population": 0.000010534026,
"hom_count_reference_population": 0,
"allele_count_reference_population": 17,
"gnomad_exomes_af": 0.0000109462,
"gnomad_genomes_af": 0.00000657358,
"gnomad_exomes_ac": 16,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.12581506371498108,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.047,
"revel_prediction": "Benign",
"alphamissense_score": 0.1679,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.071,
"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": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_173812.5",
"gene_symbol": "DPY19L2",
"hgnc_id": 19414,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2244G>T",
"hgvs_p": "p.Gln748His"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}