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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: 10-111007608-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=111007608&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 111007608,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000369452.9",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC2",
"gene_hgnc_id": 15454,
"hgvs_c": "c.1239G>T",
"hgvs_p": "p.Gln413His",
"transcript": "NM_007373.4",
"protein_id": "NP_031399.2",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 582,
"cds_start": 1239,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 1527,
"cdna_end": null,
"cdna_length": 3884,
"mane_select": "ENST00000369452.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC2",
"gene_hgnc_id": 15454,
"hgvs_c": "c.1239G>T",
"hgvs_p": "p.Gln413His",
"transcript": "ENST00000369452.9",
"protein_id": "ENSP00000358464.5",
"transcript_support_level": 1,
"aa_start": 413,
"aa_end": null,
"aa_length": 582,
"cds_start": 1239,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 1527,
"cdna_end": null,
"cdna_length": 3884,
"mane_select": "NM_007373.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC2",
"gene_hgnc_id": 15454,
"hgvs_c": "c.1239G>T",
"hgvs_p": "p.Gln413His",
"transcript": "NM_001324336.2",
"protein_id": "NP_001311265.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 582,
"cds_start": 1239,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 1545,
"cdna_end": null,
"cdna_length": 3902,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC2",
"gene_hgnc_id": 15454,
"hgvs_c": "c.1239G>T",
"hgvs_p": "p.Gln413His",
"transcript": "NM_001324337.2",
"protein_id": "NP_001311266.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 582,
"cds_start": 1239,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 1712,
"cdna_end": null,
"cdna_length": 4069,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC2",
"gene_hgnc_id": 15454,
"hgvs_c": "c.1239G>T",
"hgvs_p": "p.Gln413His",
"transcript": "NM_001441184.1",
"protein_id": "NP_001428113.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 582,
"cds_start": 1239,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 1625,
"cdna_end": null,
"cdna_length": 3982,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC2",
"gene_hgnc_id": 15454,
"hgvs_c": "c.1239G>T",
"hgvs_p": "p.Gln413His",
"transcript": "NM_001441185.1",
"protein_id": "NP_001428114.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 582,
"cds_start": 1239,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 1810,
"cdna_end": null,
"cdna_length": 4167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC2",
"gene_hgnc_id": 15454,
"hgvs_c": "c.1239G>T",
"hgvs_p": "p.Gln413His",
"transcript": "ENST00000685059.1",
"protein_id": "ENSP00000510210.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 582,
"cds_start": 1239,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 1579,
"cdna_end": null,
"cdna_length": 6542,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC2",
"gene_hgnc_id": 15454,
"hgvs_c": "c.1239G>T",
"hgvs_p": "p.Gln413His",
"transcript": "ENST00000688928.1",
"protein_id": "ENSP00000509273.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 582,
"cds_start": 1239,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 1548,
"cdna_end": null,
"cdna_length": 5731,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC2",
"gene_hgnc_id": 15454,
"hgvs_c": "c.1239G>T",
"hgvs_p": "p.Gln413His",
"transcript": "ENST00000689118.1",
"protein_id": "ENSP00000510554.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 582,
"cds_start": 1239,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 1590,
"cdna_end": null,
"cdna_length": 5773,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC2",
"gene_hgnc_id": 15454,
"hgvs_c": "c.1239G>T",
"hgvs_p": "p.Gln413His",
"transcript": "ENST00000689300.1",
"protein_id": "ENSP00000510639.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 582,
"cds_start": 1239,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 1838,
"cdna_end": null,
"cdna_length": 6021,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC2",
"gene_hgnc_id": 15454,
"hgvs_c": "c.1239G>T",
"hgvs_p": "p.Gln413His",
"transcript": "ENST00000691369.1",
"protein_id": "ENSP00000509754.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 582,
"cds_start": 1239,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 1622,
"cdna_end": null,
"cdna_length": 5805,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC2",
"gene_hgnc_id": 15454,
"hgvs_c": "c.1239G>T",
"hgvs_p": "p.Gln413His",
"transcript": "ENST00000691441.1",
"protein_id": "ENSP00000509686.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 582,
"cds_start": 1239,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 1728,
"cdna_end": null,
"cdna_length": 7727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC2",
"gene_hgnc_id": 15454,
"hgvs_c": "c.1101G>T",
"hgvs_p": "p.Gln367His",
"transcript": "NM_001269039.3",
"protein_id": "NP_001255968.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 536,
"cds_start": 1101,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1389,
"cdna_end": null,
"cdna_length": 3746,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC2",
"gene_hgnc_id": 15454,
"hgvs_c": "c.1101G>T",
"hgvs_p": "p.Gln367His",
"transcript": "NM_001441186.1",
"protein_id": "NP_001428115.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 536,
"cds_start": 1101,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1574,
"cdna_end": null,
"cdna_length": 3931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC2",
"gene_hgnc_id": 15454,
"hgvs_c": "c.1101G>T",
"hgvs_p": "p.Gln367His",
"transcript": "ENST00000265277.10",
"protein_id": "ENSP00000265277.5",
"transcript_support_level": 2,
"aa_start": 367,
"aa_end": null,
"aa_length": 536,
"cds_start": 1101,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1393,
"cdna_end": null,
"cdna_length": 3751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC2",
"gene_hgnc_id": 15454,
"hgvs_c": "c.1239G>T",
"hgvs_p": "p.Gln413His",
"transcript": "ENST00000692776.1",
"protein_id": "ENSP00000508524.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 520,
"cds_start": 1239,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 1540,
"cdna_end": null,
"cdna_length": 2576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC2",
"gene_hgnc_id": 15454,
"hgvs_c": "c.1239G>T",
"hgvs_p": "p.Gln413His",
"transcript": "NM_001441187.1",
"protein_id": "NP_001428116.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 479,
"cds_start": 1239,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 1527,
"cdna_end": null,
"cdna_length": 3766,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC2",
"gene_hgnc_id": 15454,
"hgvs_c": "c.1239G>T",
"hgvs_p": "p.Gln413His",
"transcript": "ENST00000691903.1",
"protein_id": "ENSP00000510314.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 479,
"cds_start": 1239,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 1538,
"cdna_end": null,
"cdna_length": 3704,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC2",
"gene_hgnc_id": 15454,
"hgvs_c": "c.570G>T",
"hgvs_p": "p.Gln190His",
"transcript": "NM_001441188.1",
"protein_id": "NP_001428117.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 359,
"cds_start": 570,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1644,
"cdna_end": null,
"cdna_length": 4001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC2",
"gene_hgnc_id": 15454,
"hgvs_c": "c.156G>T",
"hgvs_p": "p.Gln52His",
"transcript": "NM_001441189.1",
"protein_id": "NP_001428118.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 221,
"cds_start": 156,
"cds_end": null,
"cds_length": 666,
"cdna_start": 452,
"cdna_end": null,
"cdna_length": 2809,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC2",
"gene_hgnc_id": 15454,
"hgvs_c": "c.156G>T",
"hgvs_p": "p.Gln52His",
"transcript": "NM_001441190.1",
"protein_id": "NP_001428119.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 221,
"cds_start": 156,
"cds_end": null,
"cds_length": 666,
"cdna_start": 590,
"cdna_end": null,
"cdna_length": 2947,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC2",
"gene_hgnc_id": 15454,
"hgvs_c": "c.156G>T",
"hgvs_p": "p.Gln52His",
"transcript": "NM_001441191.1",
"protein_id": "NP_001428120.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 221,
"cds_start": 156,
"cds_end": null,
"cds_length": 666,
"cdna_start": 459,
"cdna_end": null,
"cdna_length": 2816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHOC2",
"gene_hgnc_id": 15454,
"hgvs_c": "c.156G>T",
"hgvs_p": "p.Gln52His",
"transcript": "ENST00000451838.2",
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},
{
"aa_ref": "Q",
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"protein_coding": true,
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"exon_count": 8,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
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"exon_count": 7,
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"gene_symbol": "SHOC2",
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"hgvs_c": "n.453G>T",
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"transcript": "ENST00000489390.1",
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 8,
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"gene_symbol": "SHOC2",
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"hgvs_c": "n.*235G>T",
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"transcript": "ENST00000685613.1",
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
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"exon_rank": 6,
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"exon_count": 7,
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"gene_symbol": "SHOC2",
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"hgvs_c": "n.1538G>T",
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"transcript": "ENST00000687592.1",
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},
{
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"protein_coding": false,
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"non_coding_transcript_exon_variant"
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"gene_symbol": "SHOC2",
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"hgvs_c": "n.1396G>T",
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"transcript": "NR_199808.1",
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},
{
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"protein_coding": false,
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"consequences": [
"3_prime_UTR_variant"
],
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"gene_symbol": "SHOC2",
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"transcript": "ENST00000685613.1",
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"feature": null
}
],
"gene_symbol": "SHOC2",
"gene_hgnc_id": 15454,
"dbsnp": "rs200215822",
"frequency_reference_population": 0.00008428557,
"hom_count_reference_population": 0,
"allele_count_reference_population": 136,
"gnomad_exomes_af": 0.0000875851,
"gnomad_genomes_af": 0.000052588,
"gnomad_exomes_ac": 128,
"gnomad_genomes_ac": 8,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.047557055950164795,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.159,
"revel_prediction": "Benign",
"alphamissense_score": 0.5332,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.2,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.01,
"phylop100way_prediction": "Uncertain_significance",
"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": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000369452.9",
"gene_symbol": "SHOC2",
"hgnc_id": 15454,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1239G>T",
"hgvs_p": "p.Gln413His"
}
],
"clinvar_disease": "Noonan syndrome-like disorder with loose anagen hair 1,RASopathy,SHOC2-related disorder,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 B:1",
"phenotype_combined": "Noonan syndrome-like disorder with loose anagen hair 1|not provided|RASopathy|not specified|SHOC2-related disorder",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}