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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: 4-52076835-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=52076835&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 52076835,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_145263.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA18",
"gene_hgnc_id": 29579,
"hgvs_c": "c.815G>A",
"hgvs_p": "p.Ser272Asn",
"transcript": "NM_145263.4",
"protein_id": "NP_660306.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 538,
"cds_start": 815,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000295213.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145263.4"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA18",
"gene_hgnc_id": 29579,
"hgvs_c": "c.815G>A",
"hgvs_p": "p.Ser272Asn",
"transcript": "ENST00000295213.9",
"protein_id": "ENSP00000295213.4",
"transcript_support_level": 1,
"aa_start": 272,
"aa_end": null,
"aa_length": 538,
"cds_start": 815,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_145263.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000295213.9"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA18",
"gene_hgnc_id": 29579,
"hgvs_c": "c.719G>A",
"hgvs_p": "p.Ser240Asn",
"transcript": "NM_001297608.2",
"protein_id": "NP_001284537.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 506,
"cds_start": 719,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297608.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA18",
"gene_hgnc_id": 29579,
"hgvs_c": "c.719G>A",
"hgvs_p": "p.Ser240Asn",
"transcript": "ENST00000419395.6",
"protein_id": "ENSP00000415309.2",
"transcript_support_level": 2,
"aa_start": 240,
"aa_end": null,
"aa_length": 506,
"cds_start": 719,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419395.6"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA18",
"gene_hgnc_id": 29579,
"hgvs_c": "c.815G>A",
"hgvs_p": "p.Ser272Asn",
"transcript": "ENST00000851879.1",
"protein_id": "ENSP00000521938.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 485,
"cds_start": 815,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851879.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA18",
"gene_hgnc_id": 29579,
"hgvs_c": "c.596G>A",
"hgvs_p": "p.Ser199Asn",
"transcript": "ENST00000851876.1",
"protein_id": "ENSP00000521935.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 465,
"cds_start": 596,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851876.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA18",
"gene_hgnc_id": 29579,
"hgvs_c": "c.719G>A",
"hgvs_p": "p.Ser240Asn",
"transcript": "ENST00000851878.1",
"protein_id": "ENSP00000521937.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 453,
"cds_start": 719,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851878.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA18",
"gene_hgnc_id": 29579,
"hgvs_c": "c.500G>A",
"hgvs_p": "p.Ser167Asn",
"transcript": "ENST00000851874.1",
"protein_id": "ENSP00000521933.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 433,
"cds_start": 500,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851874.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA18",
"gene_hgnc_id": 29579,
"hgvs_c": "c.479G>A",
"hgvs_p": "p.Ser160Asn",
"transcript": "ENST00000851873.1",
"protein_id": "ENSP00000521932.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 426,
"cds_start": 479,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851873.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA18",
"gene_hgnc_id": 29579,
"hgvs_c": "c.404G>A",
"hgvs_p": "p.Ser135Asn",
"transcript": "NM_001346102.2",
"protein_id": "NP_001333031.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 401,
"cds_start": 404,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346102.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA18",
"gene_hgnc_id": 29579,
"hgvs_c": "c.479G>A",
"hgvs_p": "p.Ser160Asn",
"transcript": "ENST00000928448.1",
"protein_id": "ENSP00000598507.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 398,
"cds_start": 479,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928448.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"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": "SPATA18",
"gene_hgnc_id": 29579,
"hgvs_c": "c.815G>A",
"hgvs_p": "p.Ser272Asn",
"transcript": "ENST00000957036.1",
"protein_id": "ENSP00000627095.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 385,
"cds_start": 815,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957036.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA18",
"gene_hgnc_id": 29579,
"hgvs_c": "c.500G>A",
"hgvs_p": "p.Ser167Asn",
"transcript": "ENST00000957035.1",
"protein_id": "ENSP00000627094.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 380,
"cds_start": 500,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957035.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA18",
"gene_hgnc_id": 29579,
"hgvs_c": "c.260G>A",
"hgvs_p": "p.Ser87Asn",
"transcript": "ENST00000851877.1",
"protein_id": "ENSP00000521936.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 353,
"cds_start": 260,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851877.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA18",
"gene_hgnc_id": 29579,
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Ser47Asn",
"transcript": "NM_001346103.2",
"protein_id": "NP_001333032.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 313,
"cds_start": 140,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346103.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA18",
"gene_hgnc_id": 29579,
"hgvs_c": "c.500G>A",
"hgvs_p": "p.Ser167Asn",
"transcript": "XM_047449604.1",
"protein_id": "XP_047305560.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 433,
"cds_start": 500,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449604.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA18",
"gene_hgnc_id": 29579,
"hgvs_c": "c.455G>A",
"hgvs_p": "p.Ser152Asn",
"transcript": "XM_017007731.3",
"protein_id": "XP_016863220.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 418,
"cds_start": 455,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007731.3"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA18",
"gene_hgnc_id": 29579,
"hgvs_c": "c.425G>A",
"hgvs_p": "p.Ser142Asn",
"transcript": "XM_047449605.1",
"protein_id": "XP_047305561.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 408,
"cds_start": 425,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449605.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA18",
"gene_hgnc_id": 29579,
"hgvs_c": "c.815G>A",
"hgvs_p": "p.Ser272Asn",
"transcript": "XM_005265717.3",
"protein_id": "XP_005265774.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 357,
"cds_start": 815,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005265717.3"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA18",
"gene_hgnc_id": 29579,
"hgvs_c": "c.164G>A",
"hgvs_p": "p.Ser55Asn",
"transcript": "XM_047449606.1",
"protein_id": "XP_047305562.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 321,
"cds_start": 164,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449606.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPATA18",
"gene_hgnc_id": 29579,
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Ser47Asn",
"transcript": "XM_011534372.2",
"protein_id": "XP_011532674.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 313,
"cds_start": 140,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534372.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SPATA18",
"gene_hgnc_id": 29579,
"hgvs_c": "c.309+15938G>A",
"hgvs_p": null,
"transcript": "ENST00000928447.1",
"protein_id": "ENSP00000598506.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 120,
"cds_start": null,
"cds_end": null,
"cds_length": 363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928447.1"
},
{
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"biotype": "protein_coding",
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{
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"strand": true,
"consequences": [
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],
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"biotype": "nonsense_mediated_decay",
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},
{
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"strand": true,
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],
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"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000511028.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
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"exon_rank_end": null,
"exon_count": 2,
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"biotype": "pseudogene",
"feature": "ENST00000514670.1"
},
{
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"protein_coding": false,
"strand": true,
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],
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"gene_symbol": "SPATA18",
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"feature": "NR_123728.2"
},
{
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"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"gene_symbol": "SPATA18",
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"transcript": "NR_144359.2",
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"biotype": "pseudogene",
"feature": "NR_144359.2"
},
{
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"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
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"gene_symbol": "SPATA18",
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"transcript": "XR_007096360.1",
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"biotype": "pseudogene",
"feature": "XR_007096360.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "SPATA18",
"gene_hgnc_id": 29579,
"hgvs_c": "n.1216G>A",
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"transcript": "XR_941044.2",
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"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": "XR_941044.2"
}
],
"gene_symbol": "SPATA18",
"gene_hgnc_id": 29579,
"dbsnp": "rs375311110",
"frequency_reference_population": 0.0000061566416,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000615664,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.21113821864128113,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.138,
"revel_prediction": "Benign",
"alphamissense_score": 0.2119,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.094,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_145263.4",
"gene_symbol": "SPATA18",
"hgnc_id": 29579,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.815G>A",
"hgvs_p": "p.Ser272Asn"
}
],
"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
}