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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: 16-53492725-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=53492725&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 53492725,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001308325.2",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKTIP",
"gene_hgnc_id": 16710,
"hgvs_c": "c.739G>C",
"hgvs_p": "p.Asp247His",
"transcript": "NM_022476.4",
"protein_id": "NP_071921.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 292,
"cds_start": 739,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000394657.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022476.4"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKTIP",
"gene_hgnc_id": 16710,
"hgvs_c": "c.739G>C",
"hgvs_p": "p.Asp247His",
"transcript": "ENST00000394657.12",
"protein_id": "ENSP00000378152.6",
"transcript_support_level": 2,
"aa_start": 247,
"aa_end": null,
"aa_length": 292,
"cds_start": 739,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022476.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394657.12"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKTIP",
"gene_hgnc_id": 16710,
"hgvs_c": "c.739G>C",
"hgvs_p": "p.Asp247His",
"transcript": "ENST00000570004.5",
"protein_id": "ENSP00000455874.1",
"transcript_support_level": 1,
"aa_start": 247,
"aa_end": null,
"aa_length": 292,
"cds_start": 739,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000570004.5"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKTIP",
"gene_hgnc_id": 16710,
"hgvs_c": "c.868G>C",
"hgvs_p": "p.Asp290His",
"transcript": "ENST00000895076.1",
"protein_id": "ENSP00000565135.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 336,
"cds_start": 868,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895076.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKTIP",
"gene_hgnc_id": 16710,
"hgvs_c": "c.868G>C",
"hgvs_p": "p.Asp290His",
"transcript": "ENST00000895073.1",
"protein_id": "ENSP00000565132.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 335,
"cds_start": 868,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895073.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKTIP",
"gene_hgnc_id": 16710,
"hgvs_c": "c.868G>C",
"hgvs_p": "p.Asp290His",
"transcript": "ENST00000949831.1",
"protein_id": "ENSP00000619890.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 335,
"cds_start": 868,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949831.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKTIP",
"gene_hgnc_id": 16710,
"hgvs_c": "c.739G>C",
"hgvs_p": "p.Asp247His",
"transcript": "NM_001308325.2",
"protein_id": "NP_001295254.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 293,
"cds_start": 739,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308325.2"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKTIP",
"gene_hgnc_id": 16710,
"hgvs_c": "c.739G>C",
"hgvs_p": "p.Asp247His",
"transcript": "ENST00000300245.8",
"protein_id": "ENSP00000300245.4",
"transcript_support_level": 5,
"aa_start": 247,
"aa_end": null,
"aa_length": 293,
"cds_start": 739,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000300245.8"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKTIP",
"gene_hgnc_id": 16710,
"hgvs_c": "c.739G>C",
"hgvs_p": "p.Asp247His",
"transcript": "ENST00000895064.1",
"protein_id": "ENSP00000565123.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 293,
"cds_start": 739,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895064.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKTIP",
"gene_hgnc_id": 16710,
"hgvs_c": "c.739G>C",
"hgvs_p": "p.Asp247His",
"transcript": "ENST00000895067.1",
"protein_id": "ENSP00000565126.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 293,
"cds_start": 739,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895067.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKTIP",
"gene_hgnc_id": 16710,
"hgvs_c": "c.739G>C",
"hgvs_p": "p.Asp247His",
"transcript": "ENST00000895068.1",
"protein_id": "ENSP00000565127.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 293,
"cds_start": 739,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895068.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKTIP",
"gene_hgnc_id": 16710,
"hgvs_c": "c.739G>C",
"hgvs_p": "p.Asp247His",
"transcript": "ENST00000895070.1",
"protein_id": "ENSP00000565129.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 293,
"cds_start": 739,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895070.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKTIP",
"gene_hgnc_id": 16710,
"hgvs_c": "c.739G>C",
"hgvs_p": "p.Asp247His",
"transcript": "ENST00000895075.1",
"protein_id": "ENSP00000565134.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 293,
"cds_start": 739,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895075.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKTIP",
"gene_hgnc_id": 16710,
"hgvs_c": "c.739G>C",
"hgvs_p": "p.Asp247His",
"transcript": "ENST00000895078.1",
"protein_id": "ENSP00000565137.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 293,
"cds_start": 739,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895078.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKTIP",
"gene_hgnc_id": 16710,
"hgvs_c": "c.739G>C",
"hgvs_p": "p.Asp247His",
"transcript": "ENST00000895080.1",
"protein_id": "ENSP00000565139.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 293,
"cds_start": 739,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895080.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKTIP",
"gene_hgnc_id": 16710,
"hgvs_c": "c.739G>C",
"hgvs_p": "p.Asp247His",
"transcript": "ENST00000949841.1",
"protein_id": "ENSP00000619900.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 293,
"cds_start": 739,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949841.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKTIP",
"gene_hgnc_id": 16710,
"hgvs_c": "c.739G>C",
"hgvs_p": "p.Asp247His",
"transcript": "NM_001012398.3",
"protein_id": "NP_001012398.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 292,
"cds_start": 739,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001012398.3"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKTIP",
"gene_hgnc_id": 16710,
"hgvs_c": "c.739G>C",
"hgvs_p": "p.Asp247His",
"transcript": "ENST00000895069.1",
"protein_id": "ENSP00000565128.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 292,
"cds_start": 739,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895069.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKTIP",
"gene_hgnc_id": 16710,
"hgvs_c": "c.739G>C",
"hgvs_p": "p.Asp247His",
"transcript": "ENST00000895071.1",
"protein_id": "ENSP00000565130.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 292,
"cds_start": 739,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895071.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKTIP",
"gene_hgnc_id": 16710,
"hgvs_c": "c.739G>C",
"hgvs_p": "p.Asp247His",
"transcript": "ENST00000895072.1",
"protein_id": "ENSP00000565131.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 292,
"cds_start": 739,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895072.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKTIP",
"gene_hgnc_id": 16710,
"hgvs_c": "c.739G>C",
"hgvs_p": "p.Asp247His",
"transcript": "ENST00000895074.1",
"protein_id": "ENSP00000565133.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 292,
"cds_start": 739,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895074.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKTIP",
"gene_hgnc_id": 16710,
"hgvs_c": "c.739G>C",
"hgvs_p": "p.Asp247His",
"transcript": "ENST00000895079.1",
"protein_id": "ENSP00000565138.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 292,
"cds_start": 739,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895079.1"
},
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKTIP",
"gene_hgnc_id": 16710,
"hgvs_c": "c.739G>C",
"hgvs_p": "p.Asp247His",
"transcript": "XM_047434486.1",
"protein_id": "XP_047290442.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 292,
"cds_start": 739,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434486.1"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKTIP",
"gene_hgnc_id": 16710,
"hgvs_c": "n.207G>C",
"hgvs_p": null,
"transcript": "ENST00000565431.1",
"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": "ENST00000565431.1"
},
{
"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": "AKTIP",
"gene_hgnc_id": 16710,
"hgvs_c": "n.1244G>C",
"hgvs_p": null,
"transcript": "ENST00000571523.2",
"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": "ENST00000571523.2"
}
],
"gene_symbol": "AKTIP",
"gene_hgnc_id": 16710,
"dbsnp": "rs750806890",
"frequency_reference_population": 0.0000027364235,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000273642,
"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": 0.40029552578926086,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.478,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2637,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.16,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.644,
"phylop100way_prediction": "Pathogenic",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001308325.2",
"gene_symbol": "AKTIP",
"hgnc_id": 16710,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.739G>C",
"hgvs_p": "p.Asp247His"
}
],
"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
}