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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: 2-111031678-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=111031678&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 111031678,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001437600.1",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOXL",
"gene_hgnc_id": 25621,
"hgvs_c": "c.1333C>T",
"hgvs_p": "p.His445Tyr",
"transcript": "NM_001142807.4",
"protein_id": "NP_001136279.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 580,
"cds_start": 1333,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000439055.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142807.4"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOXL",
"gene_hgnc_id": 25621,
"hgvs_c": "c.1333C>T",
"hgvs_p": "p.His445Tyr",
"transcript": "ENST00000439055.6",
"protein_id": "ENSP00000407761.1",
"transcript_support_level": 2,
"aa_start": 445,
"aa_end": null,
"aa_length": 580,
"cds_start": 1333,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001142807.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439055.6"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOXL",
"gene_hgnc_id": 25621,
"hgvs_c": "c.847C>T",
"hgvs_p": "p.His283Tyr",
"transcript": "ENST00000417074.5",
"protein_id": "ENSP00000387832.1",
"transcript_support_level": 1,
"aa_start": 283,
"aa_end": null,
"aa_length": 355,
"cds_start": 847,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000417074.5"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOXL",
"gene_hgnc_id": 25621,
"hgvs_c": "c.1465C>T",
"hgvs_p": "p.His489Tyr",
"transcript": "ENST00000957119.1",
"protein_id": "ENSP00000627178.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 624,
"cds_start": 1465,
"cds_end": null,
"cds_length": 1875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957119.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOXL",
"gene_hgnc_id": 25621,
"hgvs_c": "c.1333C>T",
"hgvs_p": "p.His445Tyr",
"transcript": "ENST00000957116.1",
"protein_id": "ENSP00000627175.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 619,
"cds_start": 1333,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957116.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOXL",
"gene_hgnc_id": 25621,
"hgvs_c": "c.1423C>T",
"hgvs_p": "p.His475Tyr",
"transcript": "NM_001437600.1",
"protein_id": "NP_001424529.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 610,
"cds_start": 1423,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437600.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOXL",
"gene_hgnc_id": 25621,
"hgvs_c": "c.1423C>T",
"hgvs_p": "p.His475Tyr",
"transcript": "ENST00000676595.2",
"protein_id": "ENSP00000503683.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 610,
"cds_start": 1423,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676595.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOXL",
"gene_hgnc_id": 25621,
"hgvs_c": "c.1405C>T",
"hgvs_p": "p.His469Tyr",
"transcript": "ENST00000957122.1",
"protein_id": "ENSP00000627181.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 604,
"cds_start": 1405,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957122.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOXL",
"gene_hgnc_id": 25621,
"hgvs_c": "c.1333C>T",
"hgvs_p": "p.His445Tyr",
"transcript": "ENST00000930161.1",
"protein_id": "ENSP00000600220.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 580,
"cds_start": 1333,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930161.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOXL",
"gene_hgnc_id": 25621,
"hgvs_c": "c.1330C>T",
"hgvs_p": "p.His444Tyr",
"transcript": "ENST00000930163.1",
"protein_id": "ENSP00000600222.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 579,
"cds_start": 1330,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930163.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOXL",
"gene_hgnc_id": 25621,
"hgvs_c": "c.1249C>T",
"hgvs_p": "p.His417Tyr",
"transcript": "ENST00000930159.1",
"protein_id": "ENSP00000600218.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 552,
"cds_start": 1249,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930159.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOXL",
"gene_hgnc_id": 25621,
"hgvs_c": "c.1423C>T",
"hgvs_p": "p.His475Tyr",
"transcript": "NM_001371254.1",
"protein_id": "NP_001358183.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 547,
"cds_start": 1423,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371254.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOXL",
"gene_hgnc_id": 25621,
"hgvs_c": "c.1423C>T",
"hgvs_p": "p.His475Tyr",
"transcript": "ENST00000389811.8",
"protein_id": "ENSP00000374461.4",
"transcript_support_level": 5,
"aa_start": 475,
"aa_end": null,
"aa_length": 547,
"cds_start": 1423,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000389811.8"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOXL",
"gene_hgnc_id": 25621,
"hgvs_c": "c.1216C>T",
"hgvs_p": "p.His406Tyr",
"transcript": "ENST00000903107.1",
"protein_id": "ENSP00000573166.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 541,
"cds_start": 1216,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903107.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOXL",
"gene_hgnc_id": 25621,
"hgvs_c": "c.1216C>T",
"hgvs_p": "p.His406Tyr",
"transcript": "ENST00000957115.1",
"protein_id": "ENSP00000627174.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 541,
"cds_start": 1216,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957115.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOXL",
"gene_hgnc_id": 25621,
"hgvs_c": "c.1132C>T",
"hgvs_p": "p.His378Tyr",
"transcript": "ENST00000957121.1",
"protein_id": "ENSP00000627180.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 513,
"cds_start": 1132,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957121.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOXL",
"gene_hgnc_id": 25621,
"hgvs_c": "c.1111C>T",
"hgvs_p": "p.His371Tyr",
"transcript": "ENST00000930157.1",
"protein_id": "ENSP00000600216.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 506,
"cds_start": 1111,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930157.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOXL",
"gene_hgnc_id": 25621,
"hgvs_c": "c.1111C>T",
"hgvs_p": "p.His371Tyr",
"transcript": "ENST00000957114.1",
"protein_id": "ENSP00000627173.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 506,
"cds_start": 1111,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957114.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOXL",
"gene_hgnc_id": 25621,
"hgvs_c": "c.1027C>T",
"hgvs_p": "p.His343Tyr",
"transcript": "ENST00000957120.1",
"protein_id": "ENSP00000627179.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 478,
"cds_start": 1027,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957120.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOXL",
"gene_hgnc_id": 25621,
"hgvs_c": "c.910C>T",
"hgvs_p": "p.His304Tyr",
"transcript": "ENST00000957118.1",
"protein_id": "ENSP00000627177.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 439,
"cds_start": 910,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957118.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOXL",
"gene_hgnc_id": 25621,
"hgvs_c": "c.184C>T",
"hgvs_p": "p.His62Tyr",
"transcript": "ENST00000441974.1",
"protein_id": "ENSP00000393823.1",
"transcript_support_level": 5,
"aa_start": 62,
"aa_end": null,
"aa_length": 93,
"cds_start": 184,
"cds_end": null,
"cds_length": 282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000441974.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOXL",
"gene_hgnc_id": 25621,
"hgvs_c": "c.1423C>T",
"hgvs_p": "p.His475Tyr",
"transcript": "XM_011511405.4",
"protein_id": "XP_011509707.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 610,
"cds_start": 1423,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
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],
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{
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"protein_coding": true,
"strand": true,
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],
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"transcript": "XM_047444906.1",
"protein_id": "XP_047300862.1",
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"cds_length": 1500,
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"feature": "XM_047444906.1"
},
{
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"strand": true,
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"intron_variant"
],
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"exon_count": 16,
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"transcript": "XM_047444907.1",
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"biotype": "protein_coding",
"feature": "XM_047444907.1"
},
{
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"strand": true,
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"intron_variant"
],
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"gene_symbol": "ACOXL",
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"transcript": "ENST00000443586.5",
"protein_id": "ENSP00000409500.1",
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"cdna_start": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000443586.5"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 5,
"intron_rank": 4,
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"gene_symbol": "MIR4435-2HG",
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"hgvs_c": "n.599+5098G>A",
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"transcript": "ENST00000645030.2",
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"aa_end": null,
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"cds_start": null,
"cds_end": null,
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"cdna_end": null,
"cdna_length": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000645030.2"
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],
"gene_symbol": "ACOXL",
"gene_hgnc_id": 25621,
"dbsnp": "rs1158724274",
"frequency_reference_population": 0.000004337029,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000410429,
"gnomad_genomes_af": 0.00000657358,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.49894291162490845,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.272,
"revel_prediction": "Benign",
"alphamissense_score": 0.3636,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.14,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.471,
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001437600.1",
"gene_symbol": "ACOXL",
"hgnc_id": 25621,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1423C>T",
"hgvs_p": "p.His475Tyr"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000645030.2",
"gene_symbol": "MIR4435-2HG",
"hgnc_id": 35163,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.599+5098G>A",
"hgvs_p": null
}
],
"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
}