← Back to variant description
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: 17-68922688-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=68922688&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 68922688,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_001288985.2",
"consequences": [
{
"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": 40,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ABCA8",
"gene_hgnc_id": 38,
"hgvs_c": "c.1443-388C>T",
"hgvs_p": null,
"transcript": "NM_001288985.2",
"protein_id": "NP_001275914.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1621,
"cds_start": null,
"cds_end": null,
"cds_length": 4866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000586539.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288985.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ABCA8",
"gene_hgnc_id": 38,
"hgvs_c": "c.1443-388C>T",
"hgvs_p": null,
"transcript": "ENST00000586539.6",
"protein_id": "ENSP00000467271.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1621,
"cds_start": null,
"cds_end": null,
"cds_length": 4866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001288985.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000586539.6"
},
{
"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": 39,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ABCA8",
"gene_hgnc_id": 38,
"hgvs_c": "c.1443-388C>T",
"hgvs_p": null,
"transcript": "ENST00000430352.6",
"protein_id": "ENSP00000402814.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1616,
"cds_start": null,
"cds_end": null,
"cds_length": 4851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000430352.6"
},
{
"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": 38,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ABCA8",
"gene_hgnc_id": 38,
"hgvs_c": "c.1443-388C>T",
"hgvs_p": null,
"transcript": "ENST00000269080.6",
"protein_id": "ENSP00000269080.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1581,
"cds_start": null,
"cds_end": null,
"cds_length": 4746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000269080.6"
},
{
"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": 39,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ABCA8",
"gene_hgnc_id": 38,
"hgvs_c": "c.1443-388C>T",
"hgvs_p": null,
"transcript": "ENST00000948182.1",
"protein_id": "ENSP00000618241.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1625,
"cds_start": null,
"cds_end": null,
"cds_length": 4878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948182.1"
},
{
"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": 39,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ABCA8",
"gene_hgnc_id": 38,
"hgvs_c": "c.1443-388C>T",
"hgvs_p": null,
"transcript": "ENST00000899806.1",
"protein_id": "ENSP00000569865.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1621,
"cds_start": null,
"cds_end": null,
"cds_length": 4866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899806.1"
},
{
"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": 39,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ABCA8",
"gene_hgnc_id": 38,
"hgvs_c": "c.1443-388C>T",
"hgvs_p": null,
"transcript": "ENST00000899808.1",
"protein_id": "ENSP00000569867.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1621,
"cds_start": null,
"cds_end": null,
"cds_length": 4866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899808.1"
},
{
"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": 40,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ABCA8",
"gene_hgnc_id": 38,
"hgvs_c": "c.1443-388C>T",
"hgvs_p": null,
"transcript": "ENST00000899809.1",
"protein_id": "ENSP00000569868.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1621,
"cds_start": null,
"cds_end": null,
"cds_length": 4866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899809.1"
},
{
"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": 39,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ABCA8",
"gene_hgnc_id": 38,
"hgvs_c": "c.1443-388C>T",
"hgvs_p": null,
"transcript": "ENST00000948183.1",
"protein_id": "ENSP00000618242.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1617,
"cds_start": null,
"cds_end": null,
"cds_length": 4854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948183.1"
},
{
"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": 40,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ABCA8",
"gene_hgnc_id": 38,
"hgvs_c": "c.1443-388C>T",
"hgvs_p": null,
"transcript": "ENST00000948187.1",
"protein_id": "ENSP00000618246.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1617,
"cds_start": null,
"cds_end": null,
"cds_length": 4854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948187.1"
},
{
"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": 39,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ABCA8",
"gene_hgnc_id": 38,
"hgvs_c": "c.1443-388C>T",
"hgvs_p": null,
"transcript": "NM_001288986.2",
"protein_id": "NP_001275915.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1616,
"cds_start": null,
"cds_end": null,
"cds_length": 4851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288986.2"
},
{
"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": 39,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ABCA8",
"gene_hgnc_id": 38,
"hgvs_c": "c.1443-388C>T",
"hgvs_p": null,
"transcript": "ENST00000948186.1",
"protein_id": "ENSP00000618245.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1591,
"cds_start": null,
"cds_end": null,
"cds_length": 4776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948186.1"
},
{
"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": 38,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ABCA8",
"gene_hgnc_id": 38,
"hgvs_c": "c.1443-388C>T",
"hgvs_p": null,
"transcript": "ENST00000948184.1",
"protein_id": "ENSP00000618243.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1585,
"cds_start": null,
"cds_end": null,
"cds_length": 4758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948184.1"
},
{
"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": 38,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ABCA8",
"gene_hgnc_id": 38,
"hgvs_c": "c.1443-388C>T",
"hgvs_p": null,
"transcript": "NM_007168.4",
"protein_id": "NP_009099.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1581,
"cds_start": null,
"cds_end": null,
"cds_length": 4746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007168.4"
},
{
"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": 39,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ABCA8",
"gene_hgnc_id": 38,
"hgvs_c": "c.1443-388C>T",
"hgvs_p": null,
"transcript": "ENST00000948185.1",
"protein_id": "ENSP00000618244.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1581,
"cds_start": null,
"cds_end": null,
"cds_length": 4746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948185.1"
},
{
"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": 38,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ABCA8",
"gene_hgnc_id": 38,
"hgvs_c": "c.1260-388C>T",
"hgvs_p": null,
"transcript": "NM_001375771.1",
"protein_id": "NP_001362700.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1560,
"cds_start": null,
"cds_end": null,
"cds_length": 4683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375771.1"
},
{
"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": 39,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ABCA8",
"gene_hgnc_id": 38,
"hgvs_c": "c.1257-388C>T",
"hgvs_p": null,
"transcript": "ENST00000899810.1",
"protein_id": "ENSP00000569869.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1559,
"cds_start": null,
"cds_end": null,
"cds_length": 4680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899810.1"
},
{
"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": 38,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ABCA8",
"gene_hgnc_id": 38,
"hgvs_c": "c.80-1196C>T",
"hgvs_p": null,
"transcript": "NM_001375772.1",
"protein_id": "NP_001362701.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1147,
"cds_start": null,
"cds_end": null,
"cds_length": 3444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375772.1"
},
{
"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": 27,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ABCA8",
"gene_hgnc_id": 38,
"hgvs_c": "c.1443-388C>T",
"hgvs_p": null,
"transcript": "ENST00000948188.1",
"protein_id": "ENSP00000618247.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1074,
"cds_start": null,
"cds_end": null,
"cds_length": 3225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948188.1"
},
{
"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": 6,
"intron_rank_end": null,
"gene_symbol": "ABCA8",
"gene_hgnc_id": 38,
"hgvs_c": "c.797+9600C>T",
"hgvs_p": null,
"transcript": "ENST00000899807.1",
"protein_id": "ENSP00000569866.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 487,
"cds_start": null,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899807.1"
},
{
"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": 7,
"intron_rank_end": null,
"gene_symbol": "ABCA8",
"gene_hgnc_id": 38,
"hgvs_c": "c.797+9600C>T",
"hgvs_p": null,
"transcript": "ENST00000899811.1",
"protein_id": "ENSP00000569870.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 487,
"cds_start": null,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899811.1"
},
{
"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": 39,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ABCA8",
"gene_hgnc_id": 38,
"hgvs_c": "c.1443-388C>T",
"hgvs_p": null,
"transcript": "XM_047435108.1",
"protein_id": "XP_047291064.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1621,
"cds_start": null,
"cds_end": null,
"cds_length": 4866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435108.1"
},
{
"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": 27,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ABCA8",
"gene_hgnc_id": 38,
"hgvs_c": "c.1443-388C>T",
"hgvs_p": null,
"transcript": "XM_047435109.1",
"protein_id": "XP_047291065.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1198,
"cds_start": null,
"cds_end": null,
"cds_length": 3597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435109.1"
},
{
"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": 24,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ABCA8",
"gene_hgnc_id": 38,
"hgvs_c": "c.1443-388C>T",
"hgvs_p": null,
"transcript": "XM_011524192.4",
"protein_id": "XP_011522494.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1063,
"cds_start": null,
"cds_end": null,
"cds_length": 3192,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524192.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ABCA8",
"gene_hgnc_id": 38,
"hgvs_c": "n.1454-388C>T",
"hgvs_p": null,
"transcript": "ENST00000541225.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000541225.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ABCA8",
"gene_hgnc_id": 38,
"hgvs_c": "n.384-388C>T",
"hgvs_p": null,
"transcript": "ENST00000589533.5",
"protein_id": "ENSP00000467186.1",
"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": "non_stop_decay",
"feature": "ENST00000589533.5"
}
],
"gene_symbol": "ABCA8",
"gene_hgnc_id": 38,
"dbsnp": "rs4147983",
"frequency_reference_population": 0.0775497,
"hom_count_reference_population": 905,
"allele_count_reference_population": 11795,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0775497,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 11795,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 905,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8600000143051147,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.86,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.355,
"phylop100way_prediction": "Benign",
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001288985.2",
"gene_symbol": "ABCA8",
"hgnc_id": 38,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1443-388C>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}