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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: 1-108922534-TCAA-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=108922534&ref=TCAA&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 108922534,
"ref": "TCAA",
"alt": "T",
"effect": "disruptive_inframe_deletion",
"transcript": "ENST00000264126.9",
"consequences": [
{
"aa_ref": "TT",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.1566_1568delAAC",
"hgvs_p": "p.Thr523del",
"transcript": "NM_013296.5",
"protein_id": "NP_037428.3",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 684,
"cds_start": 1566,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 2058,
"cdna_end": null,
"cdna_length": 7152,
"mane_select": "ENST00000264126.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TT",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.1566_1568delAAC",
"hgvs_p": "p.Thr523del",
"transcript": "ENST00000264126.9",
"protein_id": "ENSP00000264126.3",
"transcript_support_level": 1,
"aa_start": 522,
"aa_end": null,
"aa_length": 684,
"cds_start": 1566,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 2058,
"cdna_end": null,
"cdna_length": 7152,
"mane_select": "NM_013296.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TT",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.1617_1619delAAC",
"hgvs_p": "p.Thr540del",
"transcript": "ENST00000674914.1",
"protein_id": "ENSP00000501579.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 701,
"cds_start": 1617,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 1912,
"cdna_end": null,
"cdna_length": 2700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TT",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.1617_1619delAAC",
"hgvs_p": "p.Thr540del",
"transcript": "ENST00000675087.1",
"protein_id": "ENSP00000502020.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 701,
"cds_start": 1617,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 1896,
"cdna_end": null,
"cdna_length": 2812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TT",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.1566_1568delAAC",
"hgvs_p": "p.Thr523del",
"transcript": "NM_001321038.2",
"protein_id": "NP_001307967.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 684,
"cds_start": 1566,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 1826,
"cdna_end": null,
"cdna_length": 6920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TT",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.1566_1568delAAC",
"hgvs_p": "p.Thr523del",
"transcript": "NM_001321039.3",
"protein_id": "NP_001307968.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 684,
"cds_start": 1566,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 2058,
"cdna_end": null,
"cdna_length": 5633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TT",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.1566_1568delAAC",
"hgvs_p": "p.Thr523del",
"transcript": "ENST00000406462.6",
"protein_id": "ENSP00000385510.1",
"transcript_support_level": 5,
"aa_start": 522,
"aa_end": null,
"aa_length": 684,
"cds_start": 1566,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 2339,
"cdna_end": null,
"cdna_length": 7433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TT",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.1566_1568delAAC",
"hgvs_p": "p.Thr523del",
"transcript": "ENST00000446797.2",
"protein_id": "ENSP00000392138.2",
"transcript_support_level": 4,
"aa_start": 522,
"aa_end": null,
"aa_length": 684,
"cds_start": 1566,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 2268,
"cdna_end": null,
"cdna_length": 3194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TT",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.1566_1568delAAC",
"hgvs_p": "p.Thr523del",
"transcript": "ENST00000642355.1",
"protein_id": "ENSP00000496104.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 684,
"cds_start": 1566,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 2062,
"cdna_end": null,
"cdna_length": 5609,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TT",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.1566_1568delAAC",
"hgvs_p": "p.Thr523del",
"transcript": "ENST00000645164.2",
"protein_id": "ENSP00000496756.2",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 684,
"cds_start": 1566,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 1875,
"cdna_end": null,
"cdna_length": 2806,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TT",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.1566_1568delAAC",
"hgvs_p": "p.Thr523del",
"transcript": "ENST00000676184.1",
"protein_id": "ENSP00000502178.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 684,
"cds_start": 1566,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 1815,
"cdna_end": null,
"cdna_length": 2741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TT",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.1566_1568delAAC",
"hgvs_p": "p.Thr523del",
"transcript": "ENST00000441735.2",
"protein_id": "ENSP00000390629.2",
"transcript_support_level": 2,
"aa_start": 522,
"aa_end": null,
"aa_length": 627,
"cds_start": 1566,
"cds_end": null,
"cds_length": 1884,
"cdna_start": 1982,
"cdna_end": null,
"cdna_length": 2378,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TT",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.1389_1391delAAC",
"hgvs_p": "p.Thr464del",
"transcript": "ENST00000675086.1",
"protein_id": "ENSP00000502476.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 625,
"cds_start": 1389,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 1731,
"cdna_end": null,
"cdna_length": 2991,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.1509_1511delAAC",
"hgvs_p": "p.Thr504del",
"transcript": "ENST00000674700.1",
"protein_id": "ENSP00000501743.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 519,
"cds_start": 1509,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 1736,
"cdna_end": null,
"cdna_length": 2447,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TT",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.654_656delAAC",
"hgvs_p": "p.Thr219del",
"transcript": "ENST00000643643.1",
"protein_id": "ENSP00000495168.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 310,
"cds_start": 654,
"cds_end": null,
"cds_length": 933,
"cdna_start": 655,
"cdna_end": null,
"cdna_length": 1520,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "TT",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.1566_1568delAAC",
"hgvs_p": "p.Thr523del",
"transcript": "XM_011541302.4",
"protein_id": "XP_011539604.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 684,
"cds_start": 1566,
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"cdna_start": 2302,
"cdna_end": null,
"cdna_length": 7396,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TT",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.1566_1568delAAC",
"hgvs_p": "p.Thr523del",
"transcript": "XM_017001097.3",
"protein_id": "XP_016856586.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 684,
"cds_start": 1566,
"cds_end": null,
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"cdna_start": 2208,
"cdna_end": null,
"cdna_length": 7302,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TT",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.1566_1568delAAC",
"hgvs_p": "p.Thr523del",
"transcript": "XM_017001098.3",
"protein_id": "XP_016856587.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 684,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "TT",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.1566_1568delAAC",
"hgvs_p": "p.Thr523del",
"transcript": "XM_047418723.1",
"protein_id": "XP_047274679.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 684,
"cds_start": 1566,
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"cdna_start": 2452,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "TT",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.1566_1568delAAC",
"hgvs_p": "p.Thr523del",
"transcript": "XM_047418724.1",
"protein_id": "XP_047274680.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
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"cdna_start": 2070,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "TT",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.1509_1511delAAC",
"hgvs_p": "p.Thr504del",
"transcript": "XM_006710589.4",
"protein_id": "XP_006710652.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 665,
"cds_start": 1509,
"cds_end": null,
"cds_length": 1998,
"cdna_start": 1754,
"cdna_end": null,
"cdna_length": 6848,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "n.*283_*285delAAC",
"hgvs_p": null,
"transcript": "ENST00000674731.1",
"protein_id": "ENSP00000502401.1",
"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": 3841,
"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": 12,
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"exon_count": 14,
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"gene_symbol": "GPSM2",
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
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"exon_count": 13,
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"gene_symbol": "GPSM2",
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"hgvs_c": "n.*283_*285delAAC",
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"transcript": "ENST00000674731.1",
"protein_id": "ENSP00000502401.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
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"exon_count": 14,
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"gene_symbol": "GPSM2",
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"hgvs_c": "n.*472_*474delAAC",
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"transcript": "ENST00000676404.1",
"protein_id": "ENSP00000502346.1",
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"aa_end": null,
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"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 12,
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"gene_symbol": "CLCC1",
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"hgvs_c": "c.*45+12088_*45+12090delTTG",
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"transcript": "ENST00000690509.1",
"protein_id": "ENSP00000510142.1",
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"aa_length": 551,
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"cdna_length": 2332,
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"feature": null
},
{
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"protein_coding": true,
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"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
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"gene_symbol": "AKNAD1",
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"hgvs_c": "c.-1+40824_-1+40826delTTG",
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"transcript": "ENST00000357393.6",
"protein_id": "ENSP00000349968.6",
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},
{
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"protein_coding": false,
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"intron_variant"
],
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"exon_count": 5,
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"gene_symbol": "GPSM2",
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"hgvs_c": "n.1216-1458_1216-1456delAAC",
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"transcript": "ENST00000675740.1",
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"feature": null
}
],
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"dbsnp": "rs199964596",
"frequency_reference_population": 0.0007215833,
"hom_count_reference_population": 9,
"allele_count_reference_population": 1147,
"gnomad_exomes_af": 0.000715933,
"gnomad_genomes_af": 0.000785809,
"gnomad_exomes_ac": 1046,
"gnomad_genomes_ac": 101,
"gnomad_exomes_homalt": 9,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 2.49,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.05,
"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": -15,
"acmg_classification": "Benign",
"acmg_criteria": "PM4_Supporting,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -15,
"benign_score": 16,
"pathogenic_score": 1,
"criteria": [
"PM4_Supporting",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000264126.9",
"gene_symbol": "GPSM2",
"hgnc_id": 29501,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1566_1568delAAC",
"hgvs_p": "p.Thr523del"
},
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000357393.6",
"gene_symbol": "AKNAD1",
"hgnc_id": 28398,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-1+40824_-1+40826delTTG",
"hgvs_p": null
},
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000690509.1",
"gene_symbol": "CLCC1",
"hgnc_id": 29675,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*45+12088_*45+12090delTTG",
"hgvs_p": null
}
],
"clinvar_disease": "Chudley-McCullough syndrome,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:3",
"phenotype_combined": "not specified|not provided|Chudley-McCullough syndrome",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}