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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: 11-44124982-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=44124982&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 44124982,
"ref": "C",
"alt": "G",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000533608.7",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "c.937C>G",
"hgvs_p": "p.Gln313Glu",
"transcript": "NM_207122.2",
"protein_id": "NP_997005.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 718,
"cds_start": 937,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 1142,
"cdna_end": null,
"cdna_length": 10037,
"mane_select": "ENST00000533608.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "c.937C>G",
"hgvs_p": "p.Gln313Glu",
"transcript": "ENST00000533608.7",
"protein_id": "ENSP00000431173.2",
"transcript_support_level": 1,
"aa_start": 313,
"aa_end": null,
"aa_length": 718,
"cds_start": 937,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 1142,
"cdna_end": null,
"cdna_length": 10037,
"mane_select": "NM_207122.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "c.937C>G",
"hgvs_p": "p.Gln313Glu",
"transcript": "ENST00000358681.8",
"protein_id": "ENSP00000351509.4",
"transcript_support_level": 1,
"aa_start": 313,
"aa_end": null,
"aa_length": 728,
"cds_start": 937,
"cds_end": null,
"cds_length": 2187,
"cdna_start": 1103,
"cdna_end": null,
"cdna_length": 2997,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "c.937C>G",
"hgvs_p": "p.Gln313Glu",
"transcript": "ENST00000343631.4",
"protein_id": "ENSP00000342656.3",
"transcript_support_level": 1,
"aa_start": 313,
"aa_end": null,
"aa_length": 718,
"cds_start": 937,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 1094,
"cdna_end": null,
"cdna_length": 3452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "c.937C>G",
"hgvs_p": "p.Gln313Glu",
"transcript": "ENST00000395673.8",
"protein_id": "ENSP00000379032.4",
"transcript_support_level": 1,
"aa_start": 313,
"aa_end": null,
"aa_length": 718,
"cds_start": 937,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 1181,
"cdna_end": null,
"cdna_length": 5288,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "c.1036C>G",
"hgvs_p": "p.Gln346Glu",
"transcript": "NM_000401.3",
"protein_id": "NP_000392.3",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 751,
"cds_start": 1036,
"cds_end": null,
"cds_length": 2256,
"cdna_start": 1092,
"cdna_end": null,
"cdna_length": 3455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "c.937C>G",
"hgvs_p": "p.Gln313Glu",
"transcript": "NM_001178083.3",
"protein_id": "NP_001171554.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 728,
"cds_start": 937,
"cds_end": null,
"cds_length": 2187,
"cdna_start": 1142,
"cdna_end": null,
"cdna_length": 10067,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "c.937C>G",
"hgvs_p": "p.Gln313Glu",
"transcript": "NM_001389628.1",
"protein_id": "NP_001376557.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 718,
"cds_start": 937,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 1091,
"cdna_end": null,
"cdna_length": 9986,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "c.937C>G",
"hgvs_p": "p.Gln313Glu",
"transcript": "NM_001389630.1",
"protein_id": "NP_001376559.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 718,
"cds_start": 937,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 1181,
"cdna_end": null,
"cdna_length": 10076,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "c.937C>G",
"hgvs_p": "p.Gln313Glu",
"transcript": "ENST00000683000.1",
"protein_id": "ENSP00000508361.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 718,
"cds_start": 937,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 1361,
"cdna_end": null,
"cdna_length": 5468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "c.937C>G",
"hgvs_p": "p.Gln313Glu",
"transcript": "ENST00000682359.1",
"protein_id": "ENSP00000508226.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 640,
"cds_start": 937,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 1142,
"cdna_end": null,
"cdna_length": 5015,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "c.1075C>G",
"hgvs_p": "p.Gln359Glu",
"transcript": "XM_011519950.2",
"protein_id": "XP_011518252.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 764,
"cds_start": 1075,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 1131,
"cdna_end": null,
"cdna_length": 10026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "c.991C>G",
"hgvs_p": "p.Gln331Glu",
"transcript": "XM_047426528.1",
"protein_id": "XP_047282484.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 736,
"cds_start": 991,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 1303,
"cdna_end": null,
"cdna_length": 10198,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "c.991C>G",
"hgvs_p": "p.Gln331Glu",
"transcript": "XM_047426529.1",
"protein_id": "XP_047282485.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 736,
"cds_start": 991,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 1348,
"cdna_end": null,
"cdna_length": 10243,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "c.937C>G",
"hgvs_p": "p.Gln313Glu",
"transcript": "XM_047426530.1",
"protein_id": "XP_047282486.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 718,
"cds_start": 937,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 987,
"cdna_end": null,
"cdna_length": 9882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "n.1096C>G",
"hgvs_p": null,
"transcript": "ENST00000531161.6",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 1838,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "n.937C>G",
"hgvs_p": null,
"transcript": "ENST00000682815.1",
"protein_id": "ENSP00000507234.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5430,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "n.1111C>G",
"hgvs_p": null,
"transcript": "ENST00000682947.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 5028,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "n.937C>G",
"hgvs_p": null,
"transcript": "ENST00000682993.1",
"protein_id": "ENSP00000507580.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "n.1354C>G",
"hgvs_p": null,
"transcript": "ENST00000683299.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "n.937C>G",
"hgvs_p": null,
"transcript": "ENST00000683870.1",
"protein_id": "ENSP00000507922.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5109,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "n.3498C>G",
"hgvs_p": null,
"transcript": "ENST00000683881.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7605,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
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"exon_count": 13,
"intron_rank": null,
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"gene_symbol": "EXT2",
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"hgvs_c": "n.937C>G",
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"transcript": "ENST00000684039.1",
"protein_id": "ENSP00000507677.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "n.937C>G",
"hgvs_p": null,
"transcript": "ENST00000684124.1",
"protein_id": "ENSP00000508332.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "c.744-5063C>G",
"hgvs_p": null,
"transcript": "ENST00000684533.1",
"protein_id": "ENSP00000507915.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 606,
"cds_start": -4,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4928,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"hgvs_c": "c.-544+29130C>G",
"hgvs_p": null,
"transcript": "ENST00000682711.1",
"protein_id": "ENSP00000506803.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 176,
"cds_start": -4,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3985,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "EXT2",
"gene_hgnc_id": 3513,
"dbsnp": "rs763718818",
"frequency_reference_population": 0.0000013697373,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136974,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5829219222068787,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.5799999833106995,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.583,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1244,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.22,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.058,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.92855968467405,
"dbscsnv_ada_prediction": "Benign",
"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": "ENST00000533608.7",
"gene_symbol": "EXT2",
"hgnc_id": 3513,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.937C>G",
"hgvs_p": "p.Gln313Glu"
}
],
"clinvar_disease": " multiple, type 2,Exostoses",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Exostoses, multiple, type 2",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}