← 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: 6-108356698-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=108356698&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 108356698,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_145315.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG1L",
"gene_hgnc_id": 16411,
"hgvs_c": "c.526C>A",
"hgvs_p": "p.Arg176Ser",
"transcript": "NM_145315.5",
"protein_id": "NP_660358.2",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 481,
"cds_start": 526,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000368977.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145315.5"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG1L",
"gene_hgnc_id": 16411,
"hgvs_c": "c.526C>A",
"hgvs_p": "p.Arg176Ser",
"transcript": "ENST00000368977.9",
"protein_id": "ENSP00000357973.3",
"transcript_support_level": 1,
"aa_start": 176,
"aa_end": null,
"aa_length": 481,
"cds_start": 526,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_145315.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368977.9"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG1L",
"gene_hgnc_id": 16411,
"hgvs_c": "c.577C>A",
"hgvs_p": "p.Arg193Ser",
"transcript": "ENST00000908138.1",
"protein_id": "ENSP00000578197.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 498,
"cds_start": 577,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908138.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG1L",
"gene_hgnc_id": 16411,
"hgvs_c": "c.520C>A",
"hgvs_p": "p.Arg174Ser",
"transcript": "ENST00000908137.1",
"protein_id": "ENSP00000578196.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 479,
"cds_start": 520,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908137.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG1L",
"gene_hgnc_id": 16411,
"hgvs_c": "c.526C>A",
"hgvs_p": "p.Arg176Ser",
"transcript": "ENST00000955934.1",
"protein_id": "ENSP00000625993.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 471,
"cds_start": 526,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955934.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG1L",
"gene_hgnc_id": 16411,
"hgvs_c": "c.424C>A",
"hgvs_p": "p.Arg142Ser",
"transcript": "ENST00000908136.1",
"protein_id": "ENSP00000578195.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 447,
"cds_start": 424,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908136.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG1L",
"gene_hgnc_id": 16411,
"hgvs_c": "c.526C>A",
"hgvs_p": "p.Arg176Ser",
"transcript": "NM_001323005.2",
"protein_id": "NP_001309934.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 434,
"cds_start": 526,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323005.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG1L",
"gene_hgnc_id": 16411,
"hgvs_c": "c.526C>A",
"hgvs_p": "p.Arg176Ser",
"transcript": "ENST00000908142.1",
"protein_id": "ENSP00000578201.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 434,
"cds_start": 526,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908142.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG1L",
"gene_hgnc_id": 16411,
"hgvs_c": "c.520C>A",
"hgvs_p": "p.Arg174Ser",
"transcript": "ENST00000908139.1",
"protein_id": "ENSP00000578198.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 432,
"cds_start": 520,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908139.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG1L",
"gene_hgnc_id": 16411,
"hgvs_c": "c.127C>A",
"hgvs_p": "p.Arg43Ser",
"transcript": "ENST00000421954.5",
"protein_id": "ENSP00000398225.1",
"transcript_support_level": 5,
"aa_start": 43,
"aa_end": null,
"aa_length": 348,
"cds_start": 127,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000421954.5"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG1L",
"gene_hgnc_id": 16411,
"hgvs_c": "c.427C>A",
"hgvs_p": "p.Arg143Ser",
"transcript": "ENST00000437715.1",
"protein_id": "ENSP00000392085.1",
"transcript_support_level": 5,
"aa_start": 143,
"aa_end": null,
"aa_length": 159,
"cds_start": 427,
"cds_end": null,
"cds_length": 480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000437715.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG1L",
"gene_hgnc_id": 16411,
"hgvs_c": "c.427C>A",
"hgvs_p": "p.Arg143Ser",
"transcript": "XM_005266885.4",
"protein_id": "XP_005266942.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 448,
"cds_start": 427,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005266885.4"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG1L",
"gene_hgnc_id": 16411,
"hgvs_c": "c.424C>A",
"hgvs_p": "p.Arg142Ser",
"transcript": "XM_011535657.3",
"protein_id": "XP_011533959.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 447,
"cds_start": 424,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535657.3"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG1L",
"gene_hgnc_id": 16411,
"hgvs_c": "c.418C>A",
"hgvs_p": "p.Arg140Ser",
"transcript": "XM_047418557.1",
"protein_id": "XP_047274513.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 445,
"cds_start": 418,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418557.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG1L",
"gene_hgnc_id": 16411,
"hgvs_c": "c.97C>A",
"hgvs_p": "p.Arg33Ser",
"transcript": "XM_017010648.2",
"protein_id": "XP_016866137.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 338,
"cds_start": 97,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010648.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG1L",
"gene_hgnc_id": 16411,
"hgvs_c": "c.97C>A",
"hgvs_p": "p.Arg33Ser",
"transcript": "XM_047418558.1",
"protein_id": "XP_047274514.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 338,
"cds_start": 97,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418558.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG1L",
"gene_hgnc_id": 16411,
"hgvs_c": "c.526C>A",
"hgvs_p": "p.Arg176Ser",
"transcript": "XM_011535659.4",
"protein_id": "XP_011533961.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 281,
"cds_start": 526,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535659.4"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG1L",
"gene_hgnc_id": 16411,
"hgvs_c": "c.526C>A",
"hgvs_p": "p.Arg176Ser",
"transcript": "XM_011535660.3",
"protein_id": "XP_011533962.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 279,
"cds_start": 526,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535660.3"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG1L",
"gene_hgnc_id": 16411,
"hgvs_c": "c.526C>A",
"hgvs_p": "p.Arg176Ser",
"transcript": "XM_011535661.3",
"protein_id": "XP_011533963.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 254,
"cds_start": 526,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535661.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG1L",
"gene_hgnc_id": 16411,
"hgvs_c": "c.-39C>A",
"hgvs_p": null,
"transcript": "XM_047418559.1",
"protein_id": "XP_047274515.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 293,
"cds_start": null,
"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": "XM_047418559.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "AFG1L",
"gene_hgnc_id": 16411,
"hgvs_c": "c.415+9659C>A",
"hgvs_p": null,
"transcript": "ENST00000908140.1",
"protein_id": "ENSP00000578199.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 370,
"cds_start": null,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908140.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AFG1L",
"gene_hgnc_id": 16411,
"hgvs_c": "c.140-45298C>A",
"hgvs_p": null,
"transcript": "ENST00000908141.1",
"protein_id": "ENSP00000578200.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 278,
"cds_start": null,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908141.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG1L",
"gene_hgnc_id": 16411,
"hgvs_c": "n.7C>A",
"hgvs_p": null,
"transcript": "ENST00000431865.1",
"protein_id": "ENSP00000415484.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000431865.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG1L",
"gene_hgnc_id": 16411,
"hgvs_c": "n.174C>A",
"hgvs_p": null,
"transcript": "NR_136553.2",
"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": "NR_136553.2"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AFG1L",
"gene_hgnc_id": 16411,
"hgvs_c": "n.552C>A",
"hgvs_p": null,
"transcript": "XR_007059229.1",
"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_007059229.1"
}
],
"gene_symbol": "AFG1L",
"gene_hgnc_id": 16411,
"dbsnp": "rs1337014099",
"frequency_reference_population": 0.0000020702305,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000207023,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2839518189430237,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.108,
"revel_prediction": "Benign",
"alphamissense_score": 0.3893,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.24,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.521,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.07,
"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_145315.5",
"gene_symbol": "AFG1L",
"hgnc_id": 16411,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.526C>A",
"hgvs_p": "p.Arg176Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}