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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: 17-75752262-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=75752262&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 75752262,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_000213.5",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.3882C>T",
"hgvs_p": "p.Tyr1294Tyr",
"transcript": "NM_000213.5",
"protein_id": "NP_000204.3",
"transcript_support_level": null,
"aa_start": 1294,
"aa_end": null,
"aa_length": 1822,
"cds_start": 3882,
"cds_end": null,
"cds_length": 5469,
"cdna_start": 4046,
"cdna_end": null,
"cdna_length": 5896,
"mane_select": "ENST00000200181.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000213.5"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.3882C>T",
"hgvs_p": "p.Tyr1294Tyr",
"transcript": "ENST00000200181.8",
"protein_id": "ENSP00000200181.3",
"transcript_support_level": 1,
"aa_start": 1294,
"aa_end": null,
"aa_length": 1822,
"cds_start": 3882,
"cds_end": null,
"cds_length": 5469,
"cdna_start": 4046,
"cdna_end": null,
"cdna_length": 5896,
"mane_select": "NM_000213.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000200181.8"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.3882C>T",
"hgvs_p": "p.Tyr1294Tyr",
"transcript": "ENST00000449880.7",
"protein_id": "ENSP00000400217.2",
"transcript_support_level": 1,
"aa_start": 1294,
"aa_end": null,
"aa_length": 1805,
"cds_start": 3882,
"cds_end": null,
"cds_length": 5418,
"cdna_start": 4046,
"cdna_end": null,
"cdna_length": 5845,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000449880.7"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.3882C>T",
"hgvs_p": "p.Tyr1294Tyr",
"transcript": "ENST00000450894.7",
"protein_id": "ENSP00000405536.3",
"transcript_support_level": 1,
"aa_start": 1294,
"aa_end": null,
"aa_length": 1752,
"cds_start": 3882,
"cds_end": null,
"cds_length": 5259,
"cdna_start": 4008,
"cdna_end": null,
"cdna_length": 5645,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450894.7"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.3882C>T",
"hgvs_p": "p.Tyr1294Tyr",
"transcript": "ENST00000579662.5",
"protein_id": "ENSP00000463651.1",
"transcript_support_level": 1,
"aa_start": 1294,
"aa_end": null,
"aa_length": 1752,
"cds_start": 3882,
"cds_end": null,
"cds_length": 5259,
"cdna_start": 4128,
"cdna_end": null,
"cdna_length": 5554,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000579662.5"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.3882C>T",
"hgvs_p": "p.Tyr1294Tyr",
"transcript": "ENST00000864029.1",
"protein_id": "ENSP00000534088.1",
"transcript_support_level": null,
"aa_start": 1294,
"aa_end": null,
"aa_length": 1875,
"cds_start": 3882,
"cds_end": null,
"cds_length": 5628,
"cdna_start": 4103,
"cdna_end": null,
"cdna_length": 6112,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864029.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.3882C>T",
"hgvs_p": "p.Tyr1294Tyr",
"transcript": "ENST00000864030.1",
"protein_id": "ENSP00000534089.1",
"transcript_support_level": null,
"aa_start": 1294,
"aa_end": null,
"aa_length": 1875,
"cds_start": 3882,
"cds_end": null,
"cds_length": 5628,
"cdna_start": 4147,
"cdna_end": null,
"cdna_length": 6156,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864030.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.4047C>T",
"hgvs_p": "p.Tyr1349Tyr",
"transcript": "ENST00000948792.1",
"protein_id": "ENSP00000618851.1",
"transcript_support_level": null,
"aa_start": 1349,
"aa_end": null,
"aa_length": 1860,
"cds_start": 4047,
"cds_end": null,
"cds_length": 5583,
"cdna_start": 4301,
"cdna_end": null,
"cdna_length": 6100,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948792.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.3969C>T",
"hgvs_p": "p.Tyr1323Tyr",
"transcript": "ENST00000864031.1",
"protein_id": "ENSP00000534090.1",
"transcript_support_level": null,
"aa_start": 1323,
"aa_end": null,
"aa_length": 1834,
"cds_start": 3969,
"cds_end": null,
"cds_length": 5505,
"cdna_start": 4237,
"cdna_end": null,
"cdna_length": 6031,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864031.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.3969C>T",
"hgvs_p": "p.Tyr1323Tyr",
"transcript": "ENST00000948787.1",
"protein_id": "ENSP00000618846.1",
"transcript_support_level": null,
"aa_start": 1323,
"aa_end": null,
"aa_length": 1834,
"cds_start": 3969,
"cds_end": null,
"cds_length": 5505,
"cdna_start": 4238,
"cdna_end": null,
"cdna_length": 6034,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948787.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.3882C>T",
"hgvs_p": "p.Tyr1294Tyr",
"transcript": "ENST00000864028.1",
"protein_id": "ENSP00000534087.1",
"transcript_support_level": null,
"aa_start": 1294,
"aa_end": null,
"aa_length": 1822,
"cds_start": 3882,
"cds_end": null,
"cds_length": 5469,
"cdna_start": 4123,
"cdna_end": null,
"cdna_length": 5976,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864028.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.3882C>T",
"hgvs_p": "p.Tyr1294Tyr",
"transcript": "ENST00000864039.1",
"protein_id": "ENSP00000534098.1",
"transcript_support_level": null,
"aa_start": 1294,
"aa_end": null,
"aa_length": 1822,
"cds_start": 3882,
"cds_end": null,
"cds_length": 5469,
"cdna_start": 4091,
"cdna_end": null,
"cdna_length": 5936,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864039.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.3879C>T",
"hgvs_p": "p.Tyr1293Tyr",
"transcript": "ENST00000948791.1",
"protein_id": "ENSP00000618850.1",
"transcript_support_level": null,
"aa_start": 1293,
"aa_end": null,
"aa_length": 1821,
"cds_start": 3879,
"cds_end": null,
"cds_length": 5466,
"cdna_start": 3995,
"cdna_end": null,
"cdna_length": 5847,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948791.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.3909C>T",
"hgvs_p": "p.Tyr1303Tyr",
"transcript": "ENST00000948790.1",
"protein_id": "ENSP00000618849.1",
"transcript_support_level": null,
"aa_start": 1303,
"aa_end": null,
"aa_length": 1814,
"cds_start": 3909,
"cds_end": null,
"cds_length": 5445,
"cdna_start": 4194,
"cdna_end": null,
"cdna_length": 5987,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948790.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.4050C>T",
"hgvs_p": "p.Tyr1350Tyr",
"transcript": "ENST00000864040.1",
"protein_id": "ENSP00000534099.1",
"transcript_support_level": null,
"aa_start": 1350,
"aa_end": null,
"aa_length": 1808,
"cds_start": 4050,
"cds_end": null,
"cds_length": 5427,
"cdna_start": 4191,
"cdna_end": null,
"cdna_length": 5830,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864040.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.3882C>T",
"hgvs_p": "p.Tyr1294Tyr",
"transcript": "NM_001005619.2",
"protein_id": "NP_001005619.1",
"transcript_support_level": null,
"aa_start": 1294,
"aa_end": null,
"aa_length": 1805,
"cds_start": 3882,
"cds_end": null,
"cds_length": 5418,
"cdna_start": 4046,
"cdna_end": null,
"cdna_length": 5845,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001005619.2"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.3882C>T",
"hgvs_p": "p.Tyr1294Tyr",
"transcript": "ENST00000864027.1",
"protein_id": "ENSP00000534086.1",
"transcript_support_level": null,
"aa_start": 1294,
"aa_end": null,
"aa_length": 1805,
"cds_start": 3882,
"cds_end": null,
"cds_length": 5418,
"cdna_start": 4193,
"cdna_end": null,
"cdna_length": 5995,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864027.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.3882C>T",
"hgvs_p": "p.Tyr1294Tyr",
"transcript": "ENST00000864041.1",
"protein_id": "ENSP00000534100.1",
"transcript_support_level": null,
"aa_start": 1294,
"aa_end": null,
"aa_length": 1805,
"cds_start": 3882,
"cds_end": null,
"cds_length": 5418,
"cdna_start": 3966,
"cdna_end": null,
"cdna_length": 5763,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864041.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.3882C>T",
"hgvs_p": "p.Tyr1294Tyr",
"transcript": "ENST00000948785.1",
"protein_id": "ENSP00000618844.1",
"transcript_support_level": null,
"aa_start": 1294,
"aa_end": null,
"aa_length": 1805,
"cds_start": 3882,
"cds_end": null,
"cds_length": 5418,
"cdna_start": 3948,
"cdna_end": null,
"cdna_length": 5748,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948785.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.3882C>T",
"hgvs_p": "p.Tyr1294Tyr",
"transcript": "ENST00000948793.1",
"protein_id": "ENSP00000618852.1",
"transcript_support_level": null,
"aa_start": 1294,
"aa_end": null,
"aa_length": 1805,
"cds_start": 3882,
"cds_end": null,
"cds_length": 5418,
"cdna_start": 5030,
"cdna_end": null,
"cdna_length": 6827,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948793.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.3882C>T",
"hgvs_p": "p.Tyr1294Tyr",
"transcript": "ENST00000864034.1",
"protein_id": "ENSP00000534093.1",
"transcript_support_level": null,
"aa_start": 1294,
"aa_end": null,
"aa_length": 1798,
"cds_start": 3882,
"cds_end": null,
"cds_length": 5397,
"cdna_start": 3947,
"cdna_end": null,
"cdna_length": 5725,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864034.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
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"biotype": "protein_coding",
"feature": "XM_006721870.4"
},
{
"aa_ref": "Y",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
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"exon_count": 38,
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"gene_symbol": "ITGB4",
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"hgvs_c": "c.3987C>T",
"hgvs_p": "p.Tyr1329Tyr",
"transcript": "XM_047435928.1",
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"feature": "XM_047435928.1"
},
{
"aa_ref": "Y",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
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"exon_count": 26,
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"gene_symbol": "ITGB4",
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"hgvs_c": "c.1827C>T",
"hgvs_p": "p.Tyr609Tyr",
"transcript": "XM_011524752.3",
"protein_id": "XP_011523054.1",
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"cdna_start": 2377,
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"biotype": "protein_coding",
"feature": "XM_011524752.3"
},
{
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"canonical": false,
"protein_coding": true,
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"consequences": [
"intron_variant"
],
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"transcript": "ENST00000864468.1",
"protein_id": "ENSP00000534527.1",
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"feature": "ENST00000864468.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
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"gene_symbol": "GALK1",
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"transcript": "NM_001381985.1",
"protein_id": "NP_001368914.1",
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"biotype": "protein_coding",
"feature": "NM_001381985.1"
},
{
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"protein_coding": true,
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"consequences": [
"intron_variant"
],
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"gene_symbol": "GALK1",
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"transcript": "ENST00000225614.6",
"protein_id": "ENSP00000225614.1",
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"feature": "ENST00000225614.6"
},
{
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"intron_variant"
],
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"gene_symbol": "ITGB4",
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"hgvs_c": "c.266-5364C>T",
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"transcript": "ENST00000582629.1",
"protein_id": "ENSP00000463788.1",
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"feature": "ENST00000582629.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
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"gene_symbol": "ITGB4",
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"hgvs_c": "n.125C>T",
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"transcript": "ENST00000583327.2",
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"biotype": "pseudogene",
"feature": "ENST00000583327.2"
},
{
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"strand": false,
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"intron_variant"
],
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"gene_symbol": "GALK1",
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"transcript": "ENST00000589643.1",
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"biotype": "pseudogene",
"feature": "ENST00000589643.1"
}
],
"gene_symbol": "ITGB4",
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"dbsnp": null,
"frequency_reference_population": 0.0000034218638,
"hom_count_reference_population": 0,
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"gnomad_exomes_af": 0.00000342186,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 5,
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"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.46000000834465027,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.295,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_000213.5",
"gene_symbol": "ITGB4",
"hgnc_id": 6158,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "Unknown,AR,AD",
"hgvs_c": "c.3882C>T",
"hgvs_p": "p.Tyr1294Tyr"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001381985.1",
"gene_symbol": "GALK1",
"hgnc_id": 4118,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*23-525G>A",
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}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}