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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: X-72275649-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=72275649&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 72275649,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001007.5",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS4X",
"gene_hgnc_id": 10424,
"hgvs_c": "c.157A>C",
"hgvs_p": "p.Lys53Gln",
"transcript": "NM_001007.5",
"protein_id": "NP_000998.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 263,
"cds_start": 157,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000316084.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001007.5"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS4X",
"gene_hgnc_id": 10424,
"hgvs_c": "c.157A>C",
"hgvs_p": "p.Lys53Gln",
"transcript": "ENST00000316084.10",
"protein_id": "ENSP00000362744.4",
"transcript_support_level": 1,
"aa_start": 53,
"aa_end": null,
"aa_length": 263,
"cds_start": 157,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001007.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000316084.10"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS4X",
"gene_hgnc_id": 10424,
"hgvs_c": "c.157A>C",
"hgvs_p": "p.Lys53Gln",
"transcript": "ENST00000897477.1",
"protein_id": "ENSP00000567536.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 271,
"cds_start": 157,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897477.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS4X",
"gene_hgnc_id": 10424,
"hgvs_c": "c.157A>C",
"hgvs_p": "p.Lys53Gln",
"transcript": "ENST00000944636.1",
"protein_id": "ENSP00000614695.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 269,
"cds_start": 157,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944636.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS4X",
"gene_hgnc_id": 10424,
"hgvs_c": "c.157A>C",
"hgvs_p": "p.Lys53Gln",
"transcript": "ENST00000897476.1",
"protein_id": "ENSP00000567535.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 261,
"cds_start": 157,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897476.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS4X",
"gene_hgnc_id": 10424,
"hgvs_c": "c.151A>C",
"hgvs_p": "p.Lys51Gln",
"transcript": "ENST00000944634.1",
"protein_id": "ENSP00000614693.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 261,
"cds_start": 151,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944634.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS4X",
"gene_hgnc_id": 10424,
"hgvs_c": "c.157A>C",
"hgvs_p": "p.Lys53Gln",
"transcript": "ENST00000919631.1",
"protein_id": "ENSP00000589690.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 259,
"cds_start": 157,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919631.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS4X",
"gene_hgnc_id": 10424,
"hgvs_c": "c.151A>C",
"hgvs_p": "p.Lys51Gln",
"transcript": "ENST00000919632.1",
"protein_id": "ENSP00000589691.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 259,
"cds_start": 151,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919632.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS4X",
"gene_hgnc_id": 10424,
"hgvs_c": "c.139A>C",
"hgvs_p": "p.Lys47Gln",
"transcript": "ENST00000919634.1",
"protein_id": "ENSP00000589693.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 257,
"cds_start": 139,
"cds_end": null,
"cds_length": 774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919634.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS4X",
"gene_hgnc_id": 10424,
"hgvs_c": "c.127A>C",
"hgvs_p": "p.Lys43Gln",
"transcript": "ENST00000919642.1",
"protein_id": "ENSP00000589701.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 253,
"cds_start": 127,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919642.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS4X",
"gene_hgnc_id": 10424,
"hgvs_c": "c.157A>C",
"hgvs_p": "p.Lys53Gln",
"transcript": "ENST00000897475.1",
"protein_id": "ENSP00000567534.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 251,
"cds_start": 157,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897475.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS4X",
"gene_hgnc_id": 10424,
"hgvs_c": "c.157A>C",
"hgvs_p": "p.Lys53Gln",
"transcript": "ENST00000919639.1",
"protein_id": "ENSP00000589698.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 251,
"cds_start": 157,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919639.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS4X",
"gene_hgnc_id": 10424,
"hgvs_c": "c.157A>C",
"hgvs_p": "p.Lys53Gln",
"transcript": "ENST00000919635.1",
"protein_id": "ENSP00000589694.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 247,
"cds_start": 157,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919635.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS4X",
"gene_hgnc_id": 10424,
"hgvs_c": "c.79A>C",
"hgvs_p": "p.Lys27Gln",
"transcript": "ENST00000919645.1",
"protein_id": "ENSP00000589704.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 235,
"cds_start": 79,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919645.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS4X",
"gene_hgnc_id": 10424,
"hgvs_c": "c.157A>C",
"hgvs_p": "p.Lys53Gln",
"transcript": "ENST00000919637.1",
"protein_id": "ENSP00000589696.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 232,
"cds_start": 157,
"cds_end": null,
"cds_length": 699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919637.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS4X",
"gene_hgnc_id": 10424,
"hgvs_c": "c.157A>C",
"hgvs_p": "p.Lys53Gln",
"transcript": "ENST00000919633.1",
"protein_id": "ENSP00000589692.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 228,
"cds_start": 157,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919633.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS4X",
"gene_hgnc_id": 10424,
"hgvs_c": "c.157A>C",
"hgvs_p": "p.Lys53Gln",
"transcript": "ENST00000919636.1",
"protein_id": "ENSP00000589695.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 222,
"cds_start": 157,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919636.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS4X",
"gene_hgnc_id": 10424,
"hgvs_c": "c.157A>C",
"hgvs_p": "p.Lys53Gln",
"transcript": "ENST00000919638.1",
"protein_id": "ENSP00000589697.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 218,
"cds_start": 157,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919638.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS4X",
"gene_hgnc_id": 10424,
"hgvs_c": "c.157A>C",
"hgvs_p": "p.Lys53Gln",
"transcript": "ENST00000919641.1",
"protein_id": "ENSP00000589700.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 183,
"cds_start": 157,
"cds_end": null,
"cds_length": 552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919641.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS4X",
"gene_hgnc_id": 10424,
"hgvs_c": "c.157A>C",
"hgvs_p": "p.Lys53Gln",
"transcript": "ENST00000919640.1",
"protein_id": "ENSP00000589699.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 173,
"cds_start": 157,
"cds_end": null,
"cds_length": 522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919640.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS4X",
"gene_hgnc_id": 10424,
"hgvs_c": "c.157A>C",
"hgvs_p": "p.Lys53Gln",
"transcript": "ENST00000919643.1",
"protein_id": "ENSP00000589702.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 153,
"cds_start": 157,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919643.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS4X",
"gene_hgnc_id": 10424,
"hgvs_c": "c.157A>C",
"hgvs_p": "p.Lys53Gln",
"transcript": "ENST00000919644.1",
"protein_id": "ENSP00000589703.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 108,
"cds_start": 157,
"cds_end": null,
"cds_length": 327,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919644.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RPS4X",
"gene_hgnc_id": 10424,
"hgvs_c": "c.3+1544A>C",
"hgvs_p": null,
"transcript": "ENST00000944635.1",
"protein_id": "ENSP00000614694.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 144,
"cds_start": null,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944635.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS4X",
"gene_hgnc_id": 10424,
"hgvs_c": "n.210A>C",
"hgvs_p": null,
"transcript": "ENST00000373626.4",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000373626.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS4X",
"gene_hgnc_id": 10424,
"hgvs_c": "n.147A>C",
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"transcript": "ENST00000486733.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000486733.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PIN4",
"gene_hgnc_id": 8992,
"hgvs_c": "n.238-23333T>G",
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"transcript": "ENST00000439980.7",
"protein_id": "ENSP00000394066.3",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000439980.7"
}
],
"gene_symbol": "RPS4X",
"gene_hgnc_id": 10424,
"dbsnp": "rs772048739",
"frequency_reference_population": 0.000016434034,
"hom_count_reference_population": 7,
"allele_count_reference_population": 18,
"gnomad_exomes_af": 0.000016434,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 18,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7241342663764954,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.19,
"revel_prediction": "Benign",
"alphamissense_score": 0.9313,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": -0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.72,
"phylop100way_prediction": "Pathogenic",
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001007.5",
"gene_symbol": "RPS4X",
"hgnc_id": 10424,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.157A>C",
"hgvs_p": "p.Lys53Gln"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000439980.7",
"gene_symbol": "PIN4",
"hgnc_id": 8992,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.238-23333T>G",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}