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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: 11-126406502-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=126406502&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 126406502,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001348396.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL4",
"gene_hgnc_id": 10864,
"hgvs_c": "c.46G>T",
"hgvs_p": "p.Val16Phe",
"transcript": "NM_001254757.2",
"protein_id": "NP_001241686.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 333,
"cds_start": 46,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 263,
"cdna_end": null,
"cdna_length": 1810,
"mane_select": "ENST00000444328.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001254757.2"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL4",
"gene_hgnc_id": 10864,
"hgvs_c": "c.46G>T",
"hgvs_p": "p.Val16Phe",
"transcript": "ENST00000444328.7",
"protein_id": "ENSP00000394354.2",
"transcript_support_level": 5,
"aa_start": 16,
"aa_end": null,
"aa_length": 333,
"cds_start": 46,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 263,
"cdna_end": null,
"cdna_length": 1810,
"mane_select": "NM_001254757.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444328.7"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL4",
"gene_hgnc_id": 10864,
"hgvs_c": "c.46G>T",
"hgvs_p": "p.Val16Phe",
"transcript": "ENST00000392669.6",
"protein_id": "ENSP00000376437.2",
"transcript_support_level": 1,
"aa_start": 16,
"aa_end": null,
"aa_length": 333,
"cds_start": 46,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 177,
"cdna_end": null,
"cdna_length": 1724,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392669.6"
},
{
"aa_ref": "V",
"aa_alt": "F",
"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": "ST3GAL4",
"gene_hgnc_id": 10864,
"hgvs_c": "c.46G>T",
"hgvs_p": "p.Val16Phe",
"transcript": "ENST00000526727.5",
"protein_id": "ENSP00000436047.1",
"transcript_support_level": 1,
"aa_start": 16,
"aa_end": null,
"aa_length": 333,
"cds_start": 46,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 420,
"cdna_end": null,
"cdna_length": 1967,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526727.5"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL4",
"gene_hgnc_id": 10864,
"hgvs_c": "c.43G>T",
"hgvs_p": "p.Val15Phe",
"transcript": "ENST00000532243.5",
"protein_id": "ENSP00000434349.1",
"transcript_support_level": 1,
"aa_start": 15,
"aa_end": null,
"aa_length": 332,
"cds_start": 43,
"cds_end": null,
"cds_length": 999,
"cdna_start": 308,
"cdna_end": null,
"cdna_length": 1825,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532243.5"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL4",
"gene_hgnc_id": 10864,
"hgvs_c": "c.46G>T",
"hgvs_p": "p.Val16Phe",
"transcript": "ENST00000530591.5",
"protein_id": "ENSP00000433989.1",
"transcript_support_level": 1,
"aa_start": 16,
"aa_end": null,
"aa_length": 329,
"cds_start": 46,
"cds_end": null,
"cds_length": 990,
"cdna_start": 515,
"cdna_end": null,
"cdna_length": 1459,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530591.5"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL4",
"gene_hgnc_id": 10864,
"hgvs_c": "c.43G>T",
"hgvs_p": "p.Val15Phe",
"transcript": "ENST00000534457.5",
"protein_id": "ENSP00000434668.1",
"transcript_support_level": 1,
"aa_start": 15,
"aa_end": null,
"aa_length": 328,
"cds_start": 43,
"cds_end": null,
"cds_length": 987,
"cdna_start": 43,
"cdna_end": null,
"cdna_length": 987,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534457.5"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL4",
"gene_hgnc_id": 10864,
"hgvs_c": "c.109G>T",
"hgvs_p": "p.Val37Phe",
"transcript": "NM_001348396.2",
"protein_id": "NP_001335325.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 354,
"cds_start": 109,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 414,
"cdna_end": null,
"cdna_length": 1961,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348396.2"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL4",
"gene_hgnc_id": 10864,
"hgvs_c": "c.109G>T",
"hgvs_p": "p.Val37Phe",
"transcript": "NM_001348397.2",
"protein_id": "NP_001335326.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 354,
"cds_start": 109,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 548,
"cdna_end": null,
"cdna_length": 2095,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348397.2"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL4",
"gene_hgnc_id": 10864,
"hgvs_c": "c.109G>T",
"hgvs_p": "p.Val37Phe",
"transcript": "ENST00000356132.9",
"protein_id": "ENSP00000348451.5",
"transcript_support_level": 5,
"aa_start": 37,
"aa_end": null,
"aa_length": 354,
"cds_start": 109,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 286,
"cdna_end": null,
"cdna_length": 1812,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356132.9"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL4",
"gene_hgnc_id": 10864,
"hgvs_c": "c.46G>T",
"hgvs_p": "p.Val16Phe",
"transcript": "ENST00000678865.1",
"protein_id": "ENSP00000504245.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 354,
"cds_start": 46,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 280,
"cdna_end": null,
"cdna_length": 1716,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678865.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL4",
"gene_hgnc_id": 10864,
"hgvs_c": "c.46G>T",
"hgvs_p": "p.Val16Phe",
"transcript": "NM_001348398.2",
"protein_id": "NP_001335327.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 350,
"cds_start": 46,
"cds_end": null,
"cds_length": 1053,
"cdna_start": 263,
"cdna_end": null,
"cdna_length": 1716,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348398.2"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL4",
"gene_hgnc_id": 10864,
"hgvs_c": "c.46G>T",
"hgvs_p": "p.Val16Phe",
"transcript": "ENST00000677503.1",
"protein_id": "ENSP00000504548.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 350,
"cds_start": 46,
"cds_end": null,
"cds_length": 1053,
"cdna_start": 261,
"cdna_end": null,
"cdna_length": 1685,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677503.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL4",
"gene_hgnc_id": 10864,
"hgvs_c": "c.46G>T",
"hgvs_p": "p.Val16Phe",
"transcript": "NM_001254758.2",
"protein_id": "NP_001241687.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 333,
"cds_start": 46,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 177,
"cdna_end": null,
"cdna_length": 1724,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001254758.2"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL4",
"gene_hgnc_id": 10864,
"hgvs_c": "c.46G>T",
"hgvs_p": "p.Val16Phe",
"transcript": "NM_001348399.2",
"protein_id": "NP_001335328.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 333,
"cds_start": 46,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 397,
"cdna_end": null,
"cdna_length": 1944,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348399.2"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL4",
"gene_hgnc_id": 10864,
"hgvs_c": "c.46G>T",
"hgvs_p": "p.Val16Phe",
"transcript": "ENST00000534083.5",
"protein_id": "ENSP00000433318.1",
"transcript_support_level": 5,
"aa_start": 16,
"aa_end": null,
"aa_length": 333,
"cds_start": 46,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 435,
"cdna_end": null,
"cdna_length": 1919,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534083.5"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL4",
"gene_hgnc_id": 10864,
"hgvs_c": "c.46G>T",
"hgvs_p": "p.Val16Phe",
"transcript": "ENST00000860623.1",
"protein_id": "ENSP00000530682.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 333,
"cds_start": 46,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 388,
"cdna_end": null,
"cdna_length": 1937,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860623.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL4",
"gene_hgnc_id": 10864,
"hgvs_c": "c.46G>T",
"hgvs_p": "p.Val16Phe",
"transcript": "ENST00000860629.1",
"protein_id": "ENSP00000530688.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 333,
"cds_start": 46,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 377,
"cdna_end": null,
"cdna_length": 1924,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860629.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL4",
"gene_hgnc_id": 10864,
"hgvs_c": "c.46G>T",
"hgvs_p": "p.Val16Phe",
"transcript": "ENST00000860631.1",
"protein_id": "ENSP00000530690.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 333,
"cds_start": 46,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 360,
"cdna_end": null,
"cdna_length": 1907,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860631.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL4",
"gene_hgnc_id": 10864,
"hgvs_c": "c.46G>T",
"hgvs_p": "p.Val16Phe",
"transcript": "ENST00000860632.1",
"protein_id": "ENSP00000530691.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 333,
"cds_start": 46,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 467,
"cdna_end": null,
"cdna_length": 2012,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860632.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL4",
"gene_hgnc_id": 10864,
"hgvs_c": "c.46G>T",
"hgvs_p": "p.Val16Phe",
"transcript": "ENST00000860633.1",
"protein_id": "ENSP00000530692.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 333,
"cds_start": 46,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 368,
"cdna_end": null,
"cdna_length": 1910,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860633.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL4",
"gene_hgnc_id": 10864,
"hgvs_c": "c.46G>T",
"hgvs_p": "p.Val16Phe",
"transcript": "ENST00000860637.1",
"protein_id": "ENSP00000530696.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 333,
"cds_start": 46,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 359,
"cdna_end": null,
"cdna_length": 1894,
"mane_select": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
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},
{
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],
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"biotype": "pseudogene",
"feature": "ENST00000676831.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"gene_symbol": "ST3GAL4",
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"hgvs_c": "n.46G>T",
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"transcript": "ENST00000676867.1",
"protein_id": "ENSP00000503991.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000676867.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"gene_symbol": "ST3GAL4",
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"transcript": "ENST00000677721.1",
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"feature": "ENST00000677721.1"
},
{
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"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"gene_symbol": "ST3GAL4",
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"transcript": "NR_145671.2",
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"feature": "NR_145671.2"
},
{
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"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
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"gene_symbol": "ST3GAL4",
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"transcript": "ENST00000534733.6",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000534733.6"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
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"exon_count": 7,
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"gene_symbol": "ST3GAL4",
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"hgvs_c": "n.-1G>T",
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"transcript": "ENST00000524834.5",
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"cds_end": null,
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"biotype": "pseudogene",
"feature": "ENST00000524834.5"
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],
"gene_symbol": "ST3GAL4",
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"dbsnp": "rs767301667",
"frequency_reference_population": 0.000008054273,
"hom_count_reference_population": 0,
"allele_count_reference_population": 13,
"gnomad_exomes_af": 0.00000684049,
"gnomad_genomes_af": 0.0000197153,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03464767336845398,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.106,
"revel_prediction": "Benign",
"alphamissense_score": 0.0585,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.288,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001348396.2",
"gene_symbol": "ST3GAL4",
"hgnc_id": 10864,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.109G>T",
"hgvs_p": "p.Val37Phe"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}