← Back to variant description
GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 20-3218604-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=3218604&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 3218604,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001424408.1",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.383C>T",
"hgvs_p": "p.Pro128Leu",
"transcript": "NM_033453.4",
"protein_id": "NP_258412.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 194,
"cds_start": 383,
"cds_end": null,
"cds_length": 585,
"cdna_start": 437,
"cdna_end": null,
"cdna_length": 1037,
"mane_select": "ENST00000380113.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033453.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.383C>T",
"hgvs_p": "p.Pro128Leu",
"transcript": "ENST00000380113.8",
"protein_id": "ENSP00000369456.3",
"transcript_support_level": 1,
"aa_start": 128,
"aa_end": null,
"aa_length": 194,
"cds_start": 383,
"cds_end": null,
"cds_length": 585,
"cdna_start": 437,
"cdna_end": null,
"cdna_length": 1037,
"mane_select": "NM_033453.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380113.8"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.332C>T",
"hgvs_p": "p.Pro111Leu",
"transcript": "ENST00000455664.6",
"protein_id": "ENSP00000413282.1",
"transcript_support_level": 1,
"aa_start": 111,
"aa_end": null,
"aa_length": 177,
"cds_start": 332,
"cds_end": null,
"cds_length": 534,
"cdna_start": 371,
"cdna_end": null,
"cdna_length": 729,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000455664.6"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.260C>T",
"hgvs_p": "p.Pro87Leu",
"transcript": "ENST00000399838.3",
"protein_id": "ENSP00000382732.3",
"transcript_support_level": 1,
"aa_start": 87,
"aa_end": null,
"aa_length": 153,
"cds_start": 260,
"cds_end": null,
"cds_length": 462,
"cdna_start": 287,
"cdna_end": null,
"cdna_length": 897,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399838.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "n.437C>T",
"hgvs_p": null,
"transcript": "ENST00000609835.5",
"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": 924,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000609835.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.383C>T",
"hgvs_p": "p.Pro128Leu",
"transcript": "NM_001424408.1",
"protein_id": "NP_001411337.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 238,
"cds_start": 383,
"cds_end": null,
"cds_length": 717,
"cdna_start": 437,
"cdna_end": null,
"cdna_length": 1084,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001424408.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.509C>T",
"hgvs_p": "p.Pro170Leu",
"transcript": "NM_001424409.1",
"protein_id": "NP_001411338.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 236,
"cds_start": 509,
"cds_end": null,
"cds_length": 711,
"cdna_start": 849,
"cdna_end": null,
"cdna_length": 1449,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001424409.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.476C>T",
"hgvs_p": "p.Pro159Leu",
"transcript": "ENST00000900242.1",
"protein_id": "ENSP00000570301.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 225,
"cds_start": 476,
"cds_end": null,
"cds_length": 678,
"cdna_start": 545,
"cdna_end": null,
"cdna_length": 1145,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900242.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.425C>T",
"hgvs_p": "p.Pro142Leu",
"transcript": "ENST00000900245.1",
"protein_id": "ENSP00000570304.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 208,
"cds_start": 425,
"cds_end": null,
"cds_length": 627,
"cdna_start": 435,
"cdna_end": null,
"cdna_length": 1033,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900245.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.422C>T",
"hgvs_p": "p.Pro141Leu",
"transcript": "ENST00000932182.1",
"protein_id": "ENSP00000602241.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 207,
"cds_start": 422,
"cds_end": null,
"cds_length": 624,
"cdna_start": 498,
"cdna_end": null,
"cdna_length": 1103,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932182.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.377C>T",
"hgvs_p": "p.Pro126Leu",
"transcript": "ENST00000900243.1",
"protein_id": "ENSP00000570302.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 192,
"cds_start": 377,
"cds_end": null,
"cds_length": 579,
"cdna_start": 442,
"cdna_end": null,
"cdna_length": 1042,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900243.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.374C>T",
"hgvs_p": "p.Pro125Leu",
"transcript": "ENST00000900244.1",
"protein_id": "ENSP00000570303.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 191,
"cds_start": 374,
"cds_end": null,
"cds_length": 576,
"cdna_start": 438,
"cdna_end": null,
"cdna_length": 1031,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900244.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.368C>T",
"hgvs_p": "p.Pro123Leu",
"transcript": "ENST00000932185.1",
"protein_id": "ENSP00000602244.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 189,
"cds_start": 368,
"cds_end": null,
"cds_length": 570,
"cdna_start": 407,
"cdna_end": null,
"cdna_length": 1007,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932185.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.332C>T",
"hgvs_p": "p.Pro111Leu",
"transcript": "NM_181493.4",
"protein_id": "NP_852470.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 177,
"cds_start": 332,
"cds_end": null,
"cds_length": 534,
"cdna_start": 386,
"cdna_end": null,
"cdna_length": 986,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181493.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.299C>T",
"hgvs_p": "p.Pro100Leu",
"transcript": "ENST00000932186.1",
"protein_id": "ENSP00000602245.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 166,
"cds_start": 299,
"cds_end": null,
"cds_length": 501,
"cdna_start": 335,
"cdna_end": null,
"cdna_length": 935,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932186.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.260C>T",
"hgvs_p": "p.Pro87Leu",
"transcript": "NM_001267623.2",
"protein_id": "NP_001254552.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 153,
"cds_start": 260,
"cds_end": null,
"cds_length": 462,
"cdna_start": 314,
"cdna_end": null,
"cdna_length": 914,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001267623.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.254C>T",
"hgvs_p": "p.Pro85Leu",
"transcript": "ENST00000932181.1",
"protein_id": "ENSP00000602240.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 151,
"cds_start": 254,
"cds_end": null,
"cds_length": 456,
"cdna_start": 329,
"cdna_end": null,
"cdna_length": 939,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932181.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.383C>T",
"hgvs_p": "p.Pro128Leu",
"transcript": "NM_001324240.2",
"protein_id": "NP_001311169.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 138,
"cds_start": 383,
"cds_end": null,
"cds_length": 417,
"cdna_start": 437,
"cdna_end": null,
"cdna_length": 1232,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324240.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.209C>T",
"hgvs_p": "p.Pro70Leu",
"transcript": "ENST00000932180.1",
"protein_id": "ENSP00000602239.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 136,
"cds_start": 209,
"cds_end": null,
"cds_length": 411,
"cdna_start": 419,
"cdna_end": null,
"cdna_length": 1029,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932180.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.46C>T",
"hgvs_p": "p.Pro16Ser",
"transcript": "NM_001324236.2",
"protein_id": "NP_001311165.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 110,
"cds_start": 46,
"cds_end": null,
"cds_length": 333,
"cdna_start": 440,
"cdna_end": null,
"cdna_length": 1040,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324236.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.46C>T",
"hgvs_p": "p.Pro16Ser",
"transcript": "NM_001324237.2",
"protein_id": "NP_001311166.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 110,
"cds_start": 46,
"cds_end": null,
"cds_length": 333,
"cdna_start": 675,
"cdna_end": null,
"cdna_length": 1275,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324237.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.46C>T",
"hgvs_p": "p.Pro16Ser",
"transcript": "NM_001324238.2",
"protein_id": "NP_001311167.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 110,
"cds_start": 46,
"cds_end": null,
"cds_length": 333,
"cdna_start": 678,
"cdna_end": null,
"cdna_length": 1278,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324238.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.46C>T",
"hgvs_p": "p.Pro16Ser",
"transcript": "NM_001351739.2",
"protein_id": "NP_001338668.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 110,
"cds_start": 46,
"cds_end": null,
"cds_length": 333,
"cdna_start": 358,
"cdna_end": null,
"cdna_length": 958,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351739.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.509C>T",
"hgvs_p": "p.Pro170Leu",
"transcript": "XM_047440139.1",
"protein_id": "XP_047296095.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 280,
"cds_start": 509,
"cds_end": null,
"cds_length": 843,
"cdna_start": 849,
"cdna_end": null,
"cdna_length": 1496,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440139.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.260C>T",
"hgvs_p": "p.Pro87Leu",
"transcript": "XM_006723565.4",
"protein_id": "XP_006723628.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 197,
"cds_start": 260,
"cds_end": null,
"cds_length": 594,
"cdna_start": 314,
"cdna_end": null,
"cdna_length": 961,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006723565.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.383C>T",
"hgvs_p": "p.Pro128Leu",
"transcript": "XM_011529234.3",
"protein_id": "XP_011527536.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 147,
"cds_start": 383,
"cds_end": null,
"cds_length": 444,
"cdna_start": 437,
"cdna_end": null,
"cdna_length": 752,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529234.3"
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.190-3237C>T",
"hgvs_p": null,
"transcript": "ENST00000932184.1",
"protein_id": "ENSP00000602243.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 120,
"cds_start": null,
"cds_end": null,
"cds_length": 363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 822,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932184.1"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.67-3237C>T",
"hgvs_p": null,
"transcript": "ENST00000932183.1",
"protein_id": "ENSP00000602242.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 79,
"cds_start": null,
"cds_end": null,
"cds_length": 240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 713,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932183.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "n.357C>T",
"hgvs_p": null,
"transcript": "ENST00000460550.5",
"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": 967,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000460550.5"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "n.189C>T",
"hgvs_p": null,
"transcript": "ENST00000461029.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 378,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000461029.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "n.418C>T",
"hgvs_p": null,
"transcript": "ENST00000483354.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1028,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000483354.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "n.367C>T",
"hgvs_p": null,
"transcript": "ENST00000490838.6",
"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": 977,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000490838.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "n.610C>T",
"hgvs_p": null,
"transcript": "NR_052000.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1210,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_052000.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "n.372C>T",
"hgvs_p": null,
"transcript": "NR_052002.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 972,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_052002.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "n.*8C>T",
"hgvs_p": null,
"transcript": "ENST00000460676.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 488,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000460676.5"
}
],
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"dbsnp": "rs780479868",
"frequency_reference_population": 0.000030365753,
"hom_count_reference_population": 0,
"allele_count_reference_population": 49,
"gnomad_exomes_af": 0.0000301079,
"gnomad_genomes_af": 0.0000328407,
"gnomad_exomes_ac": 44,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7291187047958374,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.274,
"revel_prediction": "Benign",
"alphamissense_score": 0.1575,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.37,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.59,
"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_001424408.1",
"gene_symbol": "ITPA",
"hgnc_id": 6176,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.383C>T",
"hgvs_p": "p.Pro128Leu"
}
],
"clinvar_disease": "Inosine triphosphatase deficiency,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not provided|Inosine triphosphatase deficiency",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}