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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: 1-108898950-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=108898950&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 108898950,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000264126.9",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.753A>G",
"hgvs_p": "p.Ala251Ala",
"transcript": "NM_013296.5",
"protein_id": "NP_037428.3",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 684,
"cds_start": 753,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 1245,
"cdna_end": null,
"cdna_length": 7152,
"mane_select": "ENST00000264126.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.753A>G",
"hgvs_p": "p.Ala251Ala",
"transcript": "ENST00000264126.9",
"protein_id": "ENSP00000264126.3",
"transcript_support_level": 1,
"aa_start": 251,
"aa_end": null,
"aa_length": 684,
"cds_start": 753,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 1245,
"cdna_end": null,
"cdna_length": 7152,
"mane_select": "NM_013296.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.804A>G",
"hgvs_p": "p.Ala268Ala",
"transcript": "ENST00000674914.1",
"protein_id": "ENSP00000501579.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 701,
"cds_start": 804,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 1099,
"cdna_end": null,
"cdna_length": 2700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.804A>G",
"hgvs_p": "p.Ala268Ala",
"transcript": "ENST00000675087.1",
"protein_id": "ENSP00000502020.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 701,
"cds_start": 804,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 1083,
"cdna_end": null,
"cdna_length": 2812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.753A>G",
"hgvs_p": "p.Ala251Ala",
"transcript": "NM_001321038.2",
"protein_id": "NP_001307967.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 684,
"cds_start": 753,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 1013,
"cdna_end": null,
"cdna_length": 6920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.753A>G",
"hgvs_p": "p.Ala251Ala",
"transcript": "NM_001321039.3",
"protein_id": "NP_001307968.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 684,
"cds_start": 753,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 1245,
"cdna_end": null,
"cdna_length": 5633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.753A>G",
"hgvs_p": "p.Ala251Ala",
"transcript": "ENST00000406462.6",
"protein_id": "ENSP00000385510.1",
"transcript_support_level": 5,
"aa_start": 251,
"aa_end": null,
"aa_length": 684,
"cds_start": 753,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 1526,
"cdna_end": null,
"cdna_length": 7433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.753A>G",
"hgvs_p": "p.Ala251Ala",
"transcript": "ENST00000446797.2",
"protein_id": "ENSP00000392138.2",
"transcript_support_level": 4,
"aa_start": 251,
"aa_end": null,
"aa_length": 684,
"cds_start": 753,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 1455,
"cdna_end": null,
"cdna_length": 3194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.753A>G",
"hgvs_p": "p.Ala251Ala",
"transcript": "ENST00000642355.1",
"protein_id": "ENSP00000496104.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 684,
"cds_start": 753,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 1249,
"cdna_end": null,
"cdna_length": 5609,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.753A>G",
"hgvs_p": "p.Ala251Ala",
"transcript": "ENST00000645164.2",
"protein_id": "ENSP00000496756.2",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 684,
"cds_start": 753,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 1062,
"cdna_end": null,
"cdna_length": 2806,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.753A>G",
"hgvs_p": "p.Ala251Ala",
"transcript": "ENST00000676184.1",
"protein_id": "ENSP00000502178.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 684,
"cds_start": 753,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 1002,
"cdna_end": null,
"cdna_length": 2741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.753A>G",
"hgvs_p": "p.Ala251Ala",
"transcript": "ENST00000441735.2",
"protein_id": "ENSP00000390629.2",
"transcript_support_level": 2,
"aa_start": 251,
"aa_end": null,
"aa_length": 627,
"cds_start": 753,
"cds_end": null,
"cds_length": 1884,
"cdna_start": 1169,
"cdna_end": null,
"cdna_length": 2378,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.753A>G",
"hgvs_p": "p.Ala251Ala",
"transcript": "ENST00000675086.1",
"protein_id": "ENSP00000502476.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 625,
"cds_start": 753,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 1095,
"cdna_end": null,
"cdna_length": 2991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.696A>G",
"hgvs_p": "p.Ala232Ala",
"transcript": "ENST00000674700.1",
"protein_id": "ENSP00000501743.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 519,
"cds_start": 696,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 923,
"cdna_end": null,
"cdna_length": 2447,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.429A>G",
"hgvs_p": "p.Ala143Ala",
"transcript": "ENST00000645255.1",
"protein_id": "ENSP00000494056.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 226,
"cds_start": 429,
"cds_end": null,
"cds_length": 683,
"cdna_start": 431,
"cdna_end": null,
"cdna_length": 685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.753A>G",
"hgvs_p": "p.Ala251Ala",
"transcript": "XM_011541302.4",
"protein_id": "XP_011539604.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 684,
"cds_start": 753,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 1489,
"cdna_end": null,
"cdna_length": 7396,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.753A>G",
"hgvs_p": "p.Ala251Ala",
"transcript": "XM_017001097.3",
"protein_id": "XP_016856586.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 684,
"cds_start": 753,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 1395,
"cdna_end": null,
"cdna_length": 7302,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.753A>G",
"hgvs_p": "p.Ala251Ala",
"transcript": "XM_017001098.3",
"protein_id": "XP_016856587.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 684,
"cds_start": 753,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 1163,
"cdna_end": null,
"cdna_length": 7070,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.753A>G",
"hgvs_p": "p.Ala251Ala",
"transcript": "XM_047418723.1",
"protein_id": "XP_047274679.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 684,
"cds_start": 753,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 1639,
"cdna_end": null,
"cdna_length": 7546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.753A>G",
"hgvs_p": "p.Ala251Ala",
"transcript": "XM_047418724.1",
"protein_id": "XP_047274680.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 684,
"cds_start": 753,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 1257,
"cdna_end": null,
"cdna_length": 7164,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.696A>G",
"hgvs_p": "p.Ala232Ala",
"transcript": "XM_006710589.4",
"protein_id": "XP_006710652.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 665,
"cds_start": 696,
"cds_end": null,
"cds_length": 1998,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 6848,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "c.753A>G",
"hgvs_p": "p.Ala251Ala",
"transcript": "XM_011541303.4",
"protein_id": "XP_011539605.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 458,
"cds_start": 753,
"cds_end": null,
"cds_length": 1377,
"cdna_start": 1245,
"cdna_end": null,
"cdna_length": 1958,
"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": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPSM2",
"gene_hgnc_id": 29501,
"hgvs_c": "n.696A>G",
"hgvs_p": null,
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{
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{
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{
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{
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{
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],
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},
{
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],
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"gene_symbol": "AKNAD1",
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"transcript": "ENST00000357393.6",
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},
{
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"gene_symbol": "GPSM2",
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"hgvs_c": "c.*226A>G",
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"transcript": "ENST00000435987.5",
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}
],
"gene_symbol": "GPSM2",
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"dbsnp": "rs12069435",
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"hom_count_reference_population": 408,
"allele_count_reference_population": 8803,
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"gnomad_exomes_ac": 4368,
"gnomad_genomes_ac": 4435,
"gnomad_exomes_homalt": 179,
"gnomad_genomes_homalt": 229,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4000000059604645,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.782,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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": -19,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -19,
"benign_score": 19,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000264126.9",
"gene_symbol": "GPSM2",
"hgnc_id": 29501,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.753A>G",
"hgvs_p": "p.Ala251Ala"
},
{
"score": -18,
"benign_score": 18,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000357393.6",
"gene_symbol": "AKNAD1",
"hgnc_id": 28398,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1-49374T>C",
"hgvs_p": null
},
{
"score": -18,
"benign_score": 18,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000690509.1",
"gene_symbol": "CLCC1",
"hgnc_id": 29675,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*46-16702T>C",
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}
],
"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:2 B:4",
"phenotype_combined": "not specified|Chudley-McCullough syndrome|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}