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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: 1-151683362-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=151683362&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 151683362,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000458013.7",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "c.1156G>C",
"hgvs_p": "p.Asp386His",
"transcript": "NM_001330723.2",
"protein_id": "NP_001317652.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 541,
"cds_start": 1156,
"cds_end": null,
"cds_length": 1626,
"cdna_start": 1308,
"cdna_end": null,
"cdna_length": 6441,
"mane_select": "ENST00000458013.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "c.1156G>C",
"hgvs_p": "p.Asp386His",
"transcript": "ENST00000458013.7",
"protein_id": "ENSP00000400333.2",
"transcript_support_level": 5,
"aa_start": 386,
"aa_end": null,
"aa_length": 541,
"cds_start": 1156,
"cds_end": null,
"cds_length": 1626,
"cdna_start": 1308,
"cdna_end": null,
"cdna_length": 6441,
"mane_select": "NM_001330723.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "c.1156G>C",
"hgvs_p": "p.Asp386His",
"transcript": "ENST00000368843.8",
"protein_id": "ENSP00000357836.3",
"transcript_support_level": 1,
"aa_start": 386,
"aa_end": null,
"aa_length": 528,
"cds_start": 1156,
"cds_end": null,
"cds_length": 1587,
"cdna_start": 1329,
"cdna_end": null,
"cdna_length": 7250,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"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": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "c.751G>C",
"hgvs_p": "p.Asp251His",
"transcript": "ENST00000368838.2",
"protein_id": "ENSP00000357831.2",
"transcript_support_level": 1,
"aa_start": 251,
"aa_end": null,
"aa_length": 393,
"cds_start": 751,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 753,
"cdna_end": null,
"cdna_length": 2046,
"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": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "n.*827G>C",
"hgvs_p": null,
"transcript": "ENST00000368841.7",
"protein_id": "ENSP00000357834.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2498,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "n.*827G>C",
"hgvs_p": null,
"transcript": "ENST00000368841.7",
"protein_id": "ENSP00000357834.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2498,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "c.1156G>C",
"hgvs_p": "p.Asp386His",
"transcript": "NM_030918.6",
"protein_id": "NP_112180.4",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 528,
"cds_start": 1156,
"cds_end": null,
"cds_length": 1587,
"cdna_start": 1308,
"cdna_end": null,
"cdna_length": 7218,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "c.853G>C",
"hgvs_p": "p.Asp285His",
"transcript": "NM_001437601.1",
"protein_id": "NP_001424530.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 440,
"cds_start": 853,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 1005,
"cdna_end": null,
"cdna_length": 6138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "c.847G>C",
"hgvs_p": "p.Asp283His",
"transcript": "NM_001437602.1",
"protein_id": "NP_001424531.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 438,
"cds_start": 847,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 1237,
"cdna_end": null,
"cdna_length": 6370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "c.853G>C",
"hgvs_p": "p.Asp285His",
"transcript": "NM_001437603.1",
"protein_id": "NP_001424532.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 427,
"cds_start": 853,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 1005,
"cdna_end": null,
"cdna_length": 6915,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "c.847G>C",
"hgvs_p": "p.Asp283His",
"transcript": "NM_001437604.1",
"protein_id": "NP_001424533.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 425,
"cds_start": 847,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 1237,
"cdna_end": null,
"cdna_length": 7147,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "c.793G>C",
"hgvs_p": "p.Asp265His",
"transcript": "NM_001437605.1",
"protein_id": "NP_001424534.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 420,
"cds_start": 793,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 945,
"cdna_end": null,
"cdna_length": 6078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "c.793G>C",
"hgvs_p": "p.Asp265His",
"transcript": "NM_001437606.1",
"protein_id": "NP_001424535.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 407,
"cds_start": 793,
"cds_end": null,
"cds_length": 1224,
"cdna_start": 945,
"cdna_end": null,
"cdna_length": 6855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "c.793G>C",
"hgvs_p": "p.Asp265His",
"transcript": "ENST00000642376.1",
"protein_id": "ENSP00000496645.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 407,
"cds_start": 793,
"cds_end": null,
"cds_length": 1224,
"cdna_start": 989,
"cdna_end": null,
"cdna_length": 1437,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "c.598G>C",
"hgvs_p": "p.Asp200His",
"transcript": "NM_001437607.1",
"protein_id": "NP_001424536.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 355,
"cds_start": 598,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 1076,
"cdna_end": null,
"cdna_length": 6209,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "c.598G>C",
"hgvs_p": "p.Asp200His",
"transcript": "NM_001437608.1",
"protein_id": "NP_001424537.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 342,
"cds_start": 598,
"cds_end": null,
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"cdna_start": 1177,
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"mane_select": null,
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"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": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "n.*827G>C",
"hgvs_p": null,
"transcript": "ENST00000642349.1",
"protein_id": "ENSP00000494331.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 2313,
"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": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "n.*534G>C",
"hgvs_p": null,
"transcript": "ENST00000642479.1",
"protein_id": "ENSP00000496775.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1347,
"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": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "n.964G>C",
"hgvs_p": null,
"transcript": "ENST00000643179.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_length": 2777,
"mane_select": null,
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"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": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "n.834G>C",
"hgvs_p": null,
"transcript": "ENST00000643937.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"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": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "n.840G>C",
"hgvs_p": null,
"transcript": "ENST00000644113.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1087,
"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": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "n.1154G>C",
"hgvs_p": null,
"transcript": "ENST00000644970.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2429,
"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": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"hgvs_c": "n.877G>C",
"hgvs_p": null,
"transcript": "ENST00000647328.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
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"exon_count": 6,
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"transcript": "ENST00000647551.1",
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
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"exon_count": 11,
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"gene_symbol": "SNX27",
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"hgvs_c": "n.*827G>C",
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"transcript": "ENST00000642349.1",
"protein_id": "ENSP00000494331.1",
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"aa_start": null,
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"cds_start": -4,
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"cdna_length": 2313,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
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"exon_count": 10,
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"gene_symbol": "SNX27",
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"hgvs_c": "n.*534G>C",
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"transcript": "ENST00000642479.1",
"protein_id": "ENSP00000496775.1",
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"cds_start": -4,
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"cdna_length": 1347,
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"feature": null
}
],
"gene_symbol": "SNX27",
"gene_hgnc_id": 20073,
"dbsnp": "rs138859961",
"frequency_reference_population": 0.0017430467,
"hom_count_reference_population": 4,
"allele_count_reference_population": 2809,
"gnomad_exomes_af": 0.00179195,
"gnomad_genomes_af": 0.00127432,
"gnomad_exomes_ac": 2615,
"gnomad_genomes_ac": 194,
"gnomad_exomes_homalt": 4,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.014138638973236084,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.285,
"revel_prediction": "Benign",
"alphamissense_score": 0.2578,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.09,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.95,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.05,
"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": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS1,BS2",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000458013.7",
"gene_symbol": "SNX27",
"hgnc_id": 20073,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1156G>C",
"hgvs_p": "p.Asp386His"
}
],
"clinvar_disease": "SNX27-related disorder,Severe myoclonic epilepsy in infancy",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Severe myoclonic epilepsy in infancy|SNX27-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}