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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: 4-127943875-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=127943875&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 127943875,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001371596.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.316C>T",
"hgvs_p": "p.Pro106Ser",
"transcript": "NM_001371596.2",
"protein_id": "NP_001358525.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 518,
"cds_start": 316,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 356,
"cdna_end": null,
"cdna_length": 4422,
"mane_select": "ENST00000641686.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.316C>T",
"hgvs_p": "p.Pro106Ser",
"transcript": "ENST00000641686.2",
"protein_id": "ENSP00000493218.2",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 518,
"cds_start": 316,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 356,
"cdna_end": null,
"cdna_length": 4422,
"mane_select": "NM_001371596.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.316C>T",
"hgvs_p": "p.Pro106Ser",
"transcript": "ENST00000296468.8",
"protein_id": "ENSP00000296468.3",
"transcript_support_level": 1,
"aa_start": 106,
"aa_end": null,
"aa_length": 518,
"cds_start": 316,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 444,
"cdna_end": null,
"cdna_length": 4516,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.316C>T",
"hgvs_p": "p.Pro106Ser",
"transcript": "NM_001371591.2",
"protein_id": "NP_001358520.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 521,
"cds_start": 316,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 356,
"cdna_end": null,
"cdna_length": 4431,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.316C>T",
"hgvs_p": "p.Pro106Ser",
"transcript": "NM_001371592.2",
"protein_id": "NP_001358521.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 520,
"cds_start": 316,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 356,
"cdna_end": null,
"cdna_length": 4428,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.316C>T",
"hgvs_p": "p.Pro106Ser",
"transcript": "NM_152778.4",
"protein_id": "NP_689991.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 518,
"cds_start": 316,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 458,
"cdna_end": null,
"cdna_length": 4524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.316C>T",
"hgvs_p": "p.Pro106Ser",
"transcript": "NM_001371593.2",
"protein_id": "NP_001358522.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 480,
"cds_start": 316,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 356,
"cdna_end": null,
"cdna_length": 4308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.316C>T",
"hgvs_p": "p.Pro106Ser",
"transcript": "ENST00000641186.1",
"protein_id": "ENSP00000493347.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 480,
"cds_start": 316,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 505,
"cdna_end": null,
"cdna_length": 4448,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.181C>T",
"hgvs_p": "p.Pro61Ser",
"transcript": "NM_001371590.2",
"protein_id": "NP_001358519.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 473,
"cds_start": 181,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 321,
"cdna_end": null,
"cdna_length": 4387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.181C>T",
"hgvs_p": "p.Pro61Ser",
"transcript": "ENST00000641178.1",
"protein_id": "ENSP00000492989.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 473,
"cds_start": 181,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 392,
"cdna_end": null,
"cdna_length": 4374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.316C>T",
"hgvs_p": "p.Pro106Ser",
"transcript": "NM_001371594.2",
"protein_id": "NP_001358523.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 469,
"cds_start": 316,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 356,
"cdna_end": null,
"cdna_length": 4275,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.316C>T",
"hgvs_p": "p.Pro106Ser",
"transcript": "ENST00000642042.1",
"protein_id": "ENSP00000493260.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 455,
"cds_start": 316,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 363,
"cdna_end": null,
"cdna_length": 2303,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.316C>T",
"hgvs_p": "p.Pro106Ser",
"transcript": "NM_001363520.3",
"protein_id": "NP_001350449.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 451,
"cds_start": 316,
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"cds_length": 1356,
"cdna_start": 356,
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"cdna_length": 4221,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.316C>T",
"hgvs_p": "p.Pro106Ser",
"transcript": "ENST00000641690.1",
"protein_id": "ENSP00000492966.1",
"transcript_support_level": null,
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"feature": null
},
{
"aa_ref": "P",
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
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"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.181C>T",
"hgvs_p": "p.Pro61Ser",
"transcript": "NM_001371595.1",
"protein_id": "NP_001358524.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 424,
"cds_start": 181,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 354,
"cdna_end": null,
"cdna_length": 4346,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.181C>T",
"hgvs_p": "p.Pro61Ser",
"transcript": "ENST00000513559.6",
"protein_id": "ENSP00000425000.2",
"transcript_support_level": 2,
"aa_start": 61,
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"cdna_start": 411,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.316C>T",
"hgvs_p": "p.Pro106Ser",
"transcript": "NM_001363521.3",
"protein_id": "NP_001350450.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 413,
"cds_start": 316,
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"cdna_start": 356,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.316C>T",
"hgvs_p": "p.Pro106Ser",
"transcript": "ENST00000641509.1",
"protein_id": "ENSP00000493459.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 413,
"cds_start": 316,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 354,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.181C>T",
"hgvs_p": "p.Pro61Ser",
"transcript": "NM_001410765.1",
"protein_id": "NP_001397694.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
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"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.181C>T",
"hgvs_p": "p.Pro61Ser",
"transcript": "ENST00000641147.1",
"protein_id": "ENSP00000493133.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.181C>T",
"hgvs_p": "p.Pro61Ser",
"transcript": "ENST00000641393.1",
"protein_id": "ENSP00000493197.1",
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"cdna_start": 373,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.316C>T",
"hgvs_p": "p.Pro106Ser",
"transcript": "NM_001437269.1",
"protein_id": "NP_001424198.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 336,
"cds_start": 316,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 356,
"cdna_end": null,
"cdna_length": 5005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"hgvs_c": "c.316C>T",
"hgvs_p": "p.Pro106Ser",
"transcript": "ENST00000641482.1",
"protein_id": "ENSP00000493277.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": 3,
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},
{
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"consequences": [
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],
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"gene_symbol": "MFSD8",
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"transcript": "ENST00000641369.1",
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},
{
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"consequences": [
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],
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"gene_symbol": "MFSD8",
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"transcript": "ENST00000641776.1",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
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"gene_symbol": "MFSD8",
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"hgvs_c": "n.91-13058C>T",
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"transcript": "ENST00000642121.1",
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"cdna_length": 220,
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"feature": null
}
],
"gene_symbol": "MFSD8",
"gene_hgnc_id": 28486,
"dbsnp": "rs757793193",
"frequency_reference_population": 0.000003097928,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000273623,
"gnomad_genomes_af": 0.00000657384,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8690640330314636,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.09000000357627869,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.499,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6616,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.989,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.09,
"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": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001371596.2",
"gene_symbol": "MFSD8",
"hgnc_id": 28486,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.316C>T",
"hgvs_p": "p.Pro106Ser"
}
],
"clinvar_disease": "Neuronal ceroid lipofuscinosis 7",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Neuronal ceroid lipofuscinosis 7",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}