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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: 15-50719981-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=50719981&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 50719981,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001438111.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPPL2A",
"gene_hgnc_id": 30227,
"hgvs_c": "c.1447C>A",
"hgvs_p": "p.Arg483Ser",
"transcript": "NM_032802.4",
"protein_id": "NP_116191.2",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 520,
"cds_start": 1447,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000261854.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032802.4"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPPL2A",
"gene_hgnc_id": 30227,
"hgvs_c": "c.1447C>A",
"hgvs_p": "p.Arg483Ser",
"transcript": "ENST00000261854.10",
"protein_id": "ENSP00000261854.5",
"transcript_support_level": 1,
"aa_start": 483,
"aa_end": null,
"aa_length": 520,
"cds_start": 1447,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032802.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261854.10"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPPL2A",
"gene_hgnc_id": 30227,
"hgvs_c": "c.1504C>A",
"hgvs_p": "p.Arg502Ser",
"transcript": "ENST00000951698.1",
"protein_id": "ENSP00000621757.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 539,
"cds_start": 1504,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951698.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPPL2A",
"gene_hgnc_id": 30227,
"hgvs_c": "c.1501C>A",
"hgvs_p": "p.Arg501Ser",
"transcript": "NM_001438111.1",
"protein_id": "NP_001425040.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 538,
"cds_start": 1501,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438111.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPPL2A",
"gene_hgnc_id": 30227,
"hgvs_c": "c.1408C>A",
"hgvs_p": "p.Arg470Ser",
"transcript": "ENST00000951700.1",
"protein_id": "ENSP00000621759.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 507,
"cds_start": 1408,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951700.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPPL2A",
"gene_hgnc_id": 30227,
"hgvs_c": "c.1390C>A",
"hgvs_p": "p.Arg464Ser",
"transcript": "ENST00000698132.1",
"protein_id": "ENSP00000513577.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 501,
"cds_start": 1390,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698132.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPPL2A",
"gene_hgnc_id": 30227,
"hgvs_c": "c.1372C>A",
"hgvs_p": "p.Arg458Ser",
"transcript": "ENST00000698133.1",
"protein_id": "ENSP00000513579.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 495,
"cds_start": 1372,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698133.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPPL2A",
"gene_hgnc_id": 30227,
"hgvs_c": "c.1336C>A",
"hgvs_p": "p.Arg446Ser",
"transcript": "ENST00000890970.1",
"protein_id": "ENSP00000561029.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 483,
"cds_start": 1336,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890970.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPPL2A",
"gene_hgnc_id": 30227,
"hgvs_c": "c.1315C>A",
"hgvs_p": "p.Arg439Ser",
"transcript": "ENST00000890968.1",
"protein_id": "ENSP00000561027.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 476,
"cds_start": 1315,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890968.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPPL2A",
"gene_hgnc_id": 30227,
"hgvs_c": "c.952C>A",
"hgvs_p": "p.Arg318Ser",
"transcript": "ENST00000558934.1",
"protein_id": "ENSP00000453927.1",
"transcript_support_level": 5,
"aa_start": 318,
"aa_end": null,
"aa_length": 355,
"cds_start": 952,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000558934.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPPL2A",
"gene_hgnc_id": 30227,
"hgvs_c": "c.535C>A",
"hgvs_p": "p.Arg179Ser",
"transcript": "ENST00000951699.1",
"protein_id": "ENSP00000621758.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 216,
"cds_start": 535,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951699.1"
},
{
"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": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "SPPL2A",
"gene_hgnc_id": 30227,
"hgvs_c": "c.1327+2143C>A",
"hgvs_p": null,
"transcript": "NM_001438112.1",
"protein_id": "NP_001425041.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 452,
"cds_start": null,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438112.1"
},
{
"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": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "SPPL2A",
"gene_hgnc_id": 30227,
"hgvs_c": "c.1327+2143C>A",
"hgvs_p": null,
"transcript": "ENST00000698135.1",
"protein_id": "ENSP00000513581.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 452,
"cds_start": null,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698135.1"
},
{
"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": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "SPPL2A",
"gene_hgnc_id": 30227,
"hgvs_c": "c.1200+6092C>A",
"hgvs_p": null,
"transcript": "ENST00000890969.1",
"protein_id": "ENSP00000561028.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 424,
"cds_start": null,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890969.1"
},
{
"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": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "SPPL2A",
"gene_hgnc_id": 30227,
"hgvs_c": "c.1381+2143C>A",
"hgvs_p": null,
"transcript": "XM_017022680.2",
"protein_id": "XP_016878169.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 470,
"cds_start": null,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022680.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPPL2A",
"gene_hgnc_id": 30227,
"hgvs_c": "n.*671C>A",
"hgvs_p": null,
"transcript": "ENST00000559293.2",
"protein_id": "ENSP00000513578.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000559293.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPPL2A",
"gene_hgnc_id": 30227,
"hgvs_c": "n.5038C>A",
"hgvs_p": null,
"transcript": "ENST00000698130.1",
"protein_id": null,
"transcript_support_level": null,
"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": "retained_intron",
"feature": "ENST00000698130.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPPL2A",
"gene_hgnc_id": 30227,
"hgvs_c": "n.*528C>A",
"hgvs_p": null,
"transcript": "ENST00000698131.1",
"protein_id": "ENSP00000513576.1",
"transcript_support_level": null,
"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": "ENST00000698131.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPPL2A",
"gene_hgnc_id": 30227,
"hgvs_c": "n.*423C>A",
"hgvs_p": null,
"transcript": "ENST00000698134.1",
"protein_id": "ENSP00000513580.1",
"transcript_support_level": null,
"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": "ENST00000698134.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPPL2A",
"gene_hgnc_id": 30227,
"hgvs_c": "n.1465C>A",
"hgvs_p": null,
"transcript": "ENST00000698136.1",
"protein_id": null,
"transcript_support_level": null,
"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": "retained_intron",
"feature": "ENST00000698136.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPPL2A",
"gene_hgnc_id": 30227,
"hgvs_c": "n.1622C>A",
"hgvs_p": null,
"transcript": "ENST00000698137.1",
"protein_id": null,
"transcript_support_level": null,
"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": "retained_intron",
"feature": "ENST00000698137.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPPL2A",
"gene_hgnc_id": 30227,
"hgvs_c": "n.1594C>A",
"hgvs_p": null,
"transcript": "ENST00000698138.1",
"protein_id": null,
"transcript_support_level": null,
"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": "retained_intron",
"feature": "ENST00000698138.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
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"transcript": "ENST00000559293.2",
"protein_id": "ENSP00000513578.1",
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{
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"3_prime_UTR_variant"
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"gene_symbol": "SPPL2A",
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"transcript": "ENST00000698131.1",
"protein_id": "ENSP00000513576.1",
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"biotype": "nonsense_mediated_decay",
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{
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"canonical": false,
"protein_coding": false,
"strand": false,
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"3_prime_UTR_variant"
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"gene_symbol": "SPPL2A",
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"hgvs_c": "n.*423C>A",
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"transcript": "ENST00000698134.1",
"protein_id": "ENSP00000513580.1",
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"cdna_start": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000698134.1"
}
],
"gene_symbol": "SPPL2A",
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"dbsnp": "rs748291215",
"frequency_reference_population": 6.843737e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84374e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9520895481109619,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.435,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9728,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.1,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.379,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.06,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001438111.1",
"gene_symbol": "SPPL2A",
"hgnc_id": 30227,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1501C>A",
"hgvs_p": "p.Arg501Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}