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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: 2-219469370-ATGACACAGTGTACGTGTCTGGGAAGTTCCCCGGGAG-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=219469370&ref=ATGACACAGTGTACGTGTCTGGGAAGTTCCCCGGGAG&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 219469370,
"ref": "ATGACACAGTGTACGTGTCTGGGAAGTTCCCCGGGAG",
"alt": "A",
"effect": "splice_donor_variant,disruptive_inframe_deletion,splice_region_variant,intron_variant",
"transcript": "ENST00000312358.12",
"consequences": [
{
"aa_ref": "TQY",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "c.3709_3715+29delACACAGTGTACGTGTCTGGGAAGTTCCCCGGGAGTG",
"hgvs_p": "p.Gln1238fs",
"transcript": "NM_005876.5",
"protein_id": "NP_005867.3",
"transcript_support_level": null,
"aa_start": 1237,
"aa_end": null,
"aa_length": 3267,
"cds_start": 3709,
"cds_end": null,
"cds_length": 9804,
"cdna_start": 3844,
"cdna_end": null,
"cdna_length": 10782,
"mane_select": "ENST00000312358.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "MTQY",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"disruptive_inframe_deletion",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "c.3707_3715+27delTGACACAGTGTACGTGTCTGGGAAGTTCCCCGGGAG",
"hgvs_p": "p.Met1236_Tyr1239delinsAsn",
"transcript": "ENST00000312358.12",
"protein_id": "ENSP00000311684.7",
"transcript_support_level": 5,
"aa_start": 1236,
"aa_end": null,
"aa_length": 3267,
"cds_start": 3707,
"cds_end": null,
"cds_length": 9804,
"cdna_start": 3842,
"cdna_end": null,
"cdna_length": 10782,
"mane_select": "NM_005876.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_donor_variant",
"splice_region_variant",
"intron_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "n.2950_2958+27delTGACACAGTGTACGTGTCTGGGAAGTTCCCCGGGAG",
"hgvs_p": null,
"transcript": "ENST00000485813.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 9854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TQY",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "c.3739_3745+29delACACAGTGTACGTGTCTGGGAAGTTCCCCGGGAGTG",
"hgvs_p": "p.Gln1248fs",
"transcript": "XM_011510479.3",
"protein_id": "XP_011508781.1",
"transcript_support_level": null,
"aa_start": 1247,
"aa_end": null,
"aa_length": 3277,
"cds_start": 3739,
"cds_end": null,
"cds_length": 9834,
"cdna_start": 3874,
"cdna_end": null,
"cdna_length": 10812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TQY",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "c.3739_3745+29delACACAGTGTACGTGTCTGGGAAGTTCCCCGGGAGTG",
"hgvs_p": "p.Gln1248fs",
"transcript": "XM_047442891.1",
"protein_id": "XP_047298847.1",
"transcript_support_level": null,
"aa_start": 1247,
"aa_end": null,
"aa_length": 3269,
"cds_start": 3739,
"cds_end": null,
"cds_length": 9810,
"cdna_start": 3874,
"cdna_end": null,
"cdna_length": 10840,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TQY",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "c.3562_3568+29delACACAGTGTACGTGTCTGGGAAGTTCCCCGGGAGTG",
"hgvs_p": "p.Gln1189fs",
"transcript": "XM_047442892.1",
"protein_id": "XP_047298848.1",
"transcript_support_level": null,
"aa_start": 1188,
"aa_end": null,
"aa_length": 3218,
"cds_start": 3562,
"cds_end": null,
"cds_length": 9657,
"cdna_start": 3697,
"cdna_end": null,
"cdna_length": 10635,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TQY",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "c.3556_3562+29delACACAGTGTACGTGTCTGGGAAGTTCCCCGGGAGTG",
"hgvs_p": "p.Gln1187fs",
"transcript": "XM_047442893.1",
"protein_id": "XP_047298849.1",
"transcript_support_level": null,
"aa_start": 1186,
"aa_end": null,
"aa_length": 3216,
"cds_start": 3556,
"cds_end": null,
"cds_length": 9651,
"cdna_start": 3691,
"cdna_end": null,
"cdna_length": 10629,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TQY",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "c.3532_3538+29delACACAGTGTACGTGTCTGGGAAGTTCCCCGGGAGTG",
"hgvs_p": "p.Gln1179fs",
"transcript": "XM_047442894.1",
"protein_id": "XP_047298850.1",
"transcript_support_level": null,
"aa_start": 1178,
"aa_end": null,
"aa_length": 3208,
"cds_start": 3532,
"cds_end": null,
"cds_length": 9627,
"cdna_start": 3667,
"cdna_end": null,
"cdna_length": 10605,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TQY",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "c.3427_3433+29delACACAGTGTACGTGTCTGGGAAGTTCCCCGGGAGTG",
"hgvs_p": "p.Gln1144fs",
"transcript": "XM_005246237.3",
"protein_id": "XP_005246294.1",
"transcript_support_level": null,
"aa_start": 1143,
"aa_end": null,
"aa_length": 3173,
"cds_start": 3427,
"cds_end": null,
"cds_length": 9522,
"cdna_start": 3435,
"cdna_end": null,
"cdna_length": 10373,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TQY",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "c.3397_3403+29delACACAGTGTACGTGTCTGGGAAGTTCCCCGGGAGTG",
"hgvs_p": "p.Gln1134fs",
"transcript": "XM_006712189.4",
"protein_id": "XP_006712252.1",
"transcript_support_level": null,
"aa_start": 1133,
"aa_end": null,
"aa_length": 3163,
"cds_start": 3397,
"cds_end": null,
"cds_length": 9492,
"cdna_start": 3405,
"cdna_end": null,
"cdna_length": 10343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TQY",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "c.3349_3355+29delACACAGTGTACGTGTCTGGGAAGTTCCCCGGGAGTG",
"hgvs_p": "p.Gln1118fs",
"transcript": "XM_047442895.1",
"protein_id": "XP_047298851.1",
"transcript_support_level": null,
"aa_start": 1117,
"aa_end": null,
"aa_length": 3147,
"cds_start": 3349,
"cds_end": null,
"cds_length": 9444,
"cdna_start": 3484,
"cdna_end": null,
"cdna_length": 10422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TQY",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "c.3250_3256+29delACACAGTGTACGTGTCTGGGAAGTTCCCCGGGAGTG",
"hgvs_p": "p.Gln1085fs",
"transcript": "XM_047442896.1",
"protein_id": "XP_047298852.1",
"transcript_support_level": null,
"aa_start": 1084,
"aa_end": null,
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"cds_start": 3250,
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"cdna_start": 3258,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
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"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "c.3220_3226+29delACACAGTGTACGTGTCTGGGAAGTTCCCCGGGAGTG",
"hgvs_p": "p.Gln1075fs",
"transcript": "XM_047442897.1",
"protein_id": "XP_047298853.1",
"transcript_support_level": null,
"aa_start": 1074,
"aa_end": null,
"aa_length": 3104,
"cds_start": 3220,
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"cdna_start": 3228,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "TQY",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
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"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "c.3739_3745+29delACACAGTGTACGTGTCTGGGAAGTTCCCCGGGAGTG",
"hgvs_p": "p.Gln1248fs",
"transcript": "XM_017003159.3",
"protein_id": "XP_016858648.2",
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"cds_start": 3739,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "c.1348_1354+29delACACAGTGTACGTGTCTGGGAAGTTCCCCGGGAGTG",
"hgvs_p": "p.Gln451fs",
"transcript": "XM_005246242.5",
"protein_id": "XP_005246299.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 2480,
"cds_start": 1348,
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"cdna_start": 1377,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
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"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "c.1333_1339+29delACACAGTGTACGTGTCTGGGAAGTTCCCCGGGAGTG",
"hgvs_p": "p.Gln446fs",
"transcript": "XM_005246239.3",
"protein_id": "XP_005246296.1",
"transcript_support_level": null,
"aa_start": 445,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
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"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "c.1333_1339+29delACACAGTGTACGTGTCTGGGAAGTTCCCCGGGAGTG",
"hgvs_p": "p.Gln446fs",
"transcript": "XM_047442898.1",
"protein_id": "XP_047298854.1",
"transcript_support_level": null,
"aa_start": 445,
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"cds_start": 1333,
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"cdna_start": 3383,
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"biotype": null,
"feature": null
},
{
"aa_ref": "TQY",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
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"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "c.1333_1339+29delACACAGTGTACGTGTCTGGGAAGTTCCCCGGGAGTG",
"hgvs_p": "p.Gln446fs",
"transcript": "XM_047442900.1",
"protein_id": "XP_047298856.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 2475,
"cds_start": 1333,
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"cdna_start": 1949,
"cdna_end": null,
"cdna_length": 8887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TQY",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "c.1162_1168+29delACACAGTGTACGTGTCTGGGAAGTTCCCCGGGAGTG",
"hgvs_p": "p.Gln389fs",
"transcript": "XM_005246240.2",
"protein_id": "XP_005246297.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 2418,
"cds_start": 1162,
"cds_end": null,
"cds_length": 7257,
"cdna_start": 1454,
"cdna_end": null,
"cdna_length": 8392,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TQY",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "c.1162_1168+29delACACAGTGTACGTGTCTGGGAAGTTCCCCGGGAGTG",
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"transcript": "XM_005246241.2",
"protein_id": "XP_005246298.1",
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"aa_start": 388,
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"cds_start": 1162,
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"cdna_start": 1476,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TQY",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
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"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "c.1162_1168+29delACACAGTGTACGTGTCTGGGAAGTTCCCCGGGAGTG",
"hgvs_p": "p.Gln389fs",
"transcript": "XM_006712193.4",
"protein_id": "XP_006712256.1",
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"aa_start": 388,
"aa_end": null,
"aa_length": 2418,
"cds_start": 1162,
"cds_end": null,
"cds_length": 7257,
"cdna_start": 1383,
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"cdna_length": 8321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TQY",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "c.3739_3745+29delACACAGTGTACGTGTCTGGGAAGTTCCCCGGGAGTG",
"hgvs_p": "p.Gln1248fs",
"transcript": "XM_047442901.1",
"protein_id": "XP_047298857.1",
"transcript_support_level": null,
"aa_start": 1247,
"aa_end": null,
"aa_length": 1728,
"cds_start": 3739,
"cds_end": null,
"cds_length": 5187,
"cdna_start": 3874,
"cdna_end": null,
"cdna_length": 5428,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"dbsnp": "rs587777674",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 9.319,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 9,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1,PP5",
"acmg_by_gene": [
{
"score": 9,
"benign_score": 0,
"pathogenic_score": 9,
"criteria": [
"PVS1",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000312358.12",
"gene_symbol": "SPEG",
"hgnc_id": 16901,
"effects": [
"splice_donor_variant",
"disruptive_inframe_deletion",
"splice_region_variant",
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3707_3715+27delTGACACAGTGTACGTGTCTGGGAAGTTCCCCGGGAG",
"hgvs_p": "p.Met1236_Tyr1239delinsAsn"
}
],
"clinvar_disease": " 5, centronuclear,Myopathy",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Myopathy, centronuclear, 5",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}