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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: 17-68877537-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=68877537&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 68877537,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001288985.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA8",
"gene_hgnc_id": 38,
"hgvs_c": "c.4181C>T",
"hgvs_p": "p.Ala1394Val",
"transcript": "NM_001288985.2",
"protein_id": "NP_001275914.1",
"transcript_support_level": null,
"aa_start": 1394,
"aa_end": null,
"aa_length": 1621,
"cds_start": 4181,
"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": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA8",
"gene_hgnc_id": 38,
"hgvs_c": "c.4181C>T",
"hgvs_p": "p.Ala1394Val",
"transcript": "ENST00000586539.6",
"protein_id": "ENSP00000467271.1",
"transcript_support_level": 1,
"aa_start": 1394,
"aa_end": null,
"aa_length": 1621,
"cds_start": 4181,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA8",
"gene_hgnc_id": 38,
"hgvs_c": "c.4166C>T",
"hgvs_p": "p.Ala1389Val",
"transcript": "ENST00000430352.6",
"protein_id": "ENSP00000402814.3",
"transcript_support_level": 1,
"aa_start": 1389,
"aa_end": null,
"aa_length": 1616,
"cds_start": 4166,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA8",
"gene_hgnc_id": 38,
"hgvs_c": "c.4061C>T",
"hgvs_p": "p.Ala1354Val",
"transcript": "ENST00000269080.6",
"protein_id": "ENSP00000269080.1",
"transcript_support_level": 1,
"aa_start": 1354,
"aa_end": null,
"aa_length": 1581,
"cds_start": 4061,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA8",
"gene_hgnc_id": 38,
"hgvs_c": "c.4193C>T",
"hgvs_p": "p.Ala1398Val",
"transcript": "ENST00000948182.1",
"protein_id": "ENSP00000618241.1",
"transcript_support_level": null,
"aa_start": 1398,
"aa_end": null,
"aa_length": 1625,
"cds_start": 4193,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA8",
"gene_hgnc_id": 38,
"hgvs_c": "c.4181C>T",
"hgvs_p": "p.Ala1394Val",
"transcript": "ENST00000899806.1",
"protein_id": "ENSP00000569865.1",
"transcript_support_level": null,
"aa_start": 1394,
"aa_end": null,
"aa_length": 1621,
"cds_start": 4181,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA8",
"gene_hgnc_id": 38,
"hgvs_c": "c.4181C>T",
"hgvs_p": "p.Ala1394Val",
"transcript": "ENST00000899808.1",
"protein_id": "ENSP00000569867.1",
"transcript_support_level": null,
"aa_start": 1394,
"aa_end": null,
"aa_length": 1621,
"cds_start": 4181,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA8",
"gene_hgnc_id": 38,
"hgvs_c": "c.4181C>T",
"hgvs_p": "p.Ala1394Val",
"transcript": "ENST00000899809.1",
"protein_id": "ENSP00000569868.1",
"transcript_support_level": null,
"aa_start": 1394,
"aa_end": null,
"aa_length": 1621,
"cds_start": 4181,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA8",
"gene_hgnc_id": 38,
"hgvs_c": "c.4169C>T",
"hgvs_p": "p.Ala1390Val",
"transcript": "ENST00000948183.1",
"protein_id": "ENSP00000618242.1",
"transcript_support_level": null,
"aa_start": 1390,
"aa_end": null,
"aa_length": 1617,
"cds_start": 4169,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA8",
"gene_hgnc_id": 38,
"hgvs_c": "c.4169C>T",
"hgvs_p": "p.Ala1390Val",
"transcript": "ENST00000948187.1",
"protein_id": "ENSP00000618246.1",
"transcript_support_level": null,
"aa_start": 1390,
"aa_end": null,
"aa_length": 1617,
"cds_start": 4169,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA8",
"gene_hgnc_id": 38,
"hgvs_c": "c.4166C>T",
"hgvs_p": "p.Ala1389Val",
"transcript": "NM_001288986.2",
"protein_id": "NP_001275915.1",
"transcript_support_level": null,
"aa_start": 1389,
"aa_end": null,
"aa_length": 1616,
"cds_start": 4166,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA8",
"gene_hgnc_id": 38,
"hgvs_c": "c.4073C>T",
"hgvs_p": "p.Ala1358Val",
"transcript": "ENST00000948184.1",
"protein_id": "ENSP00000618243.1",
"transcript_support_level": null,
"aa_start": 1358,
"aa_end": null,
"aa_length": 1585,
"cds_start": 4073,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA8",
"gene_hgnc_id": 38,
"hgvs_c": "c.4061C>T",
"hgvs_p": "p.Ala1354Val",
"transcript": "NM_007168.4",
"protein_id": "NP_009099.1",
"transcript_support_level": null,
"aa_start": 1354,
"aa_end": null,
"aa_length": 1581,
"cds_start": 4061,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA8",
"gene_hgnc_id": 38,
"hgvs_c": "c.4061C>T",
"hgvs_p": "p.Ala1354Val",
"transcript": "ENST00000948185.1",
"protein_id": "ENSP00000618244.1",
"transcript_support_level": null,
"aa_start": 1354,
"aa_end": null,
"aa_length": 1581,
"cds_start": 4061,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA8",
"gene_hgnc_id": 38,
"hgvs_c": "c.3998C>T",
"hgvs_p": "p.Ala1333Val",
"transcript": "NM_001375771.1",
"protein_id": "NP_001362700.1",
"transcript_support_level": null,
"aa_start": 1333,
"aa_end": null,
"aa_length": 1560,
"cds_start": 3998,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA8",
"gene_hgnc_id": 38,
"hgvs_c": "c.3995C>T",
"hgvs_p": "p.Ala1332Val",
"transcript": "ENST00000899810.1",
"protein_id": "ENSP00000569869.1",
"transcript_support_level": null,
"aa_start": 1332,
"aa_end": null,
"aa_length": 1559,
"cds_start": 3995,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA8",
"gene_hgnc_id": 38,
"hgvs_c": "c.2759C>T",
"hgvs_p": "p.Ala920Val",
"transcript": "NM_001375772.1",
"protein_id": "NP_001362701.1",
"transcript_support_level": null,
"aa_start": 920,
"aa_end": null,
"aa_length": 1147,
"cds_start": 2759,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA8",
"gene_hgnc_id": 38,
"hgvs_c": "c.2540C>T",
"hgvs_p": "p.Ala847Val",
"transcript": "ENST00000948188.1",
"protein_id": "ENSP00000618247.1",
"transcript_support_level": null,
"aa_start": 847,
"aa_end": null,
"aa_length": 1074,
"cds_start": 2540,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA8",
"gene_hgnc_id": 38,
"hgvs_c": "c.4181C>T",
"hgvs_p": "p.Ala1394Val",
"transcript": "XM_047435108.1",
"protein_id": "XP_047291064.1",
"transcript_support_level": null,
"aa_start": 1394,
"aa_end": null,
"aa_length": 1621,
"cds_start": 4181,
"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": 39,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "ABCA8",
"gene_hgnc_id": 38,
"hgvs_c": "c.4109+174C>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": 13,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ABCA8",
"gene_hgnc_id": 38,
"hgvs_c": "c.798-834C>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.798-834C>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": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA8",
"gene_hgnc_id": 38,
"hgvs_c": "n.833C>T",
"hgvs_p": null,
"transcript": "ENST00000586292.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000586292.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA8",
"gene_hgnc_id": 38,
"hgvs_c": "n.110C>T",
"hgvs_p": null,
"transcript": "ENST00000588458.1",
"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": "ENST00000588458.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCA8",
"gene_hgnc_id": 38,
"hgvs_c": "n.2731C>T",
"hgvs_p": null,
"transcript": "ENST00000591459.1",
"protein_id": null,
"transcript_support_level": 6,
"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": "ENST00000591459.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC105371874",
"gene_hgnc_id": null,
"hgvs_c": "n.2606G>A",
"hgvs_p": null,
"transcript": "XR_001752986.3",
"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": "pseudogene",
"feature": "XR_001752986.3"
}
],
"gene_symbol": "ABCA8",
"gene_hgnc_id": 38,
"dbsnp": "rs1054911177",
"frequency_reference_population": 0.0000027369142,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000273691,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.20804208517074585,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.2199999988079071,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.328,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1188,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.25,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.503,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.22,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001288985.2",
"gene_symbol": "ABCA8",
"hgnc_id": 38,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4181C>T",
"hgvs_p": "p.Ala1394Val"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "XR_001752986.3",
"gene_symbol": "LOC105371874",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.2606G>A",
"hgvs_p": null
}
],
"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
}