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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: 20-35669651-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=35669651&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 35669651,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_021100.5",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFS1",
"gene_hgnc_id": 15910,
"hgvs_c": "c.1345C>A",
"hgvs_p": "p.Leu449Ile",
"transcript": "NM_021100.5",
"protein_id": "NP_066923.3",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 457,
"cds_start": 1345,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000374092.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021100.5"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFS1",
"gene_hgnc_id": 15910,
"hgvs_c": "c.1345C>A",
"hgvs_p": "p.Leu449Ile",
"transcript": "ENST00000374092.9",
"protein_id": "ENSP00000363205.3",
"transcript_support_level": 1,
"aa_start": 449,
"aa_end": null,
"aa_length": 457,
"cds_start": 1345,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_021100.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374092.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ENSG00000272897",
"gene_hgnc_id": null,
"hgvs_c": "n.287+3104C>A",
"hgvs_p": null,
"transcript": "ENST00000541176.2",
"protein_id": "ENSP00000443983.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000541176.2"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFS1",
"gene_hgnc_id": 15910,
"hgvs_c": "c.1372C>A",
"hgvs_p": "p.Leu458Ile",
"transcript": "ENST00000874539.1",
"protein_id": "ENSP00000544598.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 466,
"cds_start": 1372,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874539.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFS1",
"gene_hgnc_id": 15910,
"hgvs_c": "c.1255C>A",
"hgvs_p": "p.Leu419Ile",
"transcript": "ENST00000874533.1",
"protein_id": "ENSP00000544592.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 427,
"cds_start": 1255,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874533.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFS1",
"gene_hgnc_id": 15910,
"hgvs_c": "c.1240C>A",
"hgvs_p": "p.Leu414Ile",
"transcript": "ENST00000874535.1",
"protein_id": "ENSP00000544594.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 422,
"cds_start": 1240,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874535.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFS1",
"gene_hgnc_id": 15910,
"hgvs_c": "c.1228C>A",
"hgvs_p": "p.Leu410Ile",
"transcript": "ENST00000874532.1",
"protein_id": "ENSP00000544591.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 418,
"cds_start": 1228,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874532.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFS1",
"gene_hgnc_id": 15910,
"hgvs_c": "c.1222C>A",
"hgvs_p": "p.Leu408Ile",
"transcript": "ENST00000874534.1",
"protein_id": "ENSP00000544593.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 416,
"cds_start": 1222,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874534.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFS1",
"gene_hgnc_id": 15910,
"hgvs_c": "c.1210C>A",
"hgvs_p": "p.Leu404Ile",
"transcript": "ENST00000874540.1",
"protein_id": "ENSP00000544599.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 412,
"cds_start": 1210,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874540.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFS1",
"gene_hgnc_id": 15910,
"hgvs_c": "c.1192C>A",
"hgvs_p": "p.Leu398Ile",
"transcript": "NM_001198989.2",
"protein_id": "NP_001185918.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 406,
"cds_start": 1192,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198989.2"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFS1",
"gene_hgnc_id": 15910,
"hgvs_c": "c.1192C>A",
"hgvs_p": "p.Leu398Ile",
"transcript": "ENST00000541387.5",
"protein_id": "ENSP00000440897.1",
"transcript_support_level": 2,
"aa_start": 398,
"aa_end": null,
"aa_length": 406,
"cds_start": 1192,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541387.5"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFS1",
"gene_hgnc_id": 15910,
"hgvs_c": "c.1165C>A",
"hgvs_p": "p.Leu389Ile",
"transcript": "ENST00000374085.5",
"protein_id": "ENSP00000363198.1",
"transcript_support_level": 2,
"aa_start": 389,
"aa_end": null,
"aa_length": 397,
"cds_start": 1165,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374085.5"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFS1",
"gene_hgnc_id": 15910,
"hgvs_c": "c.1165C>A",
"hgvs_p": "p.Leu389Ile",
"transcript": "ENST00000397425.5",
"protein_id": "ENSP00000380570.1",
"transcript_support_level": 5,
"aa_start": 389,
"aa_end": null,
"aa_length": 397,
"cds_start": 1165,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397425.5"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFS1",
"gene_hgnc_id": 15910,
"hgvs_c": "c.1153C>A",
"hgvs_p": "p.Leu385Ile",
"transcript": "ENST00000874538.1",
"protein_id": "ENSP00000544597.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 393,
"cds_start": 1153,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874538.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFS1",
"gene_hgnc_id": 15910,
"hgvs_c": "c.1087C>A",
"hgvs_p": "p.Leu363Ile",
"transcript": "ENST00000966807.1",
"protein_id": "ENSP00000636866.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 371,
"cds_start": 1087,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966807.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFS1",
"gene_hgnc_id": 15910,
"hgvs_c": "c.1036C>A",
"hgvs_p": "p.Leu346Ile",
"transcript": "ENST00000966806.1",
"protein_id": "ENSP00000636865.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 354,
"cds_start": 1036,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966806.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFS1",
"gene_hgnc_id": 15910,
"hgvs_c": "c.958C>A",
"hgvs_p": "p.Leu320Ile",
"transcript": "ENST00000874536.1",
"protein_id": "ENSP00000544595.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 328,
"cds_start": 958,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874536.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFS1",
"gene_hgnc_id": 15910,
"hgvs_c": "c.883C>A",
"hgvs_p": "p.Leu295Ile",
"transcript": "ENST00000874537.1",
"protein_id": "ENSP00000544596.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 303,
"cds_start": 883,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874537.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFS1",
"gene_hgnc_id": 15910,
"hgvs_c": "n.*392C>A",
"hgvs_p": null,
"transcript": "ENST00000440385.5",
"protein_id": "ENSP00000392871.1",
"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": "ENST00000440385.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFS1",
"gene_hgnc_id": 15910,
"hgvs_c": "n.1966C>A",
"hgvs_p": null,
"transcript": "ENST00000480655.5",
"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": "ENST00000480655.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFS1",
"gene_hgnc_id": 15910,
"hgvs_c": "n.290C>A",
"hgvs_p": null,
"transcript": "ENST00000498084.5",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000498084.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFS1",
"gene_hgnc_id": 15910,
"hgvs_c": "n.1531C>A",
"hgvs_p": null,
"transcript": "NR_037570.3",
"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": "NR_037570.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFS1",
"gene_hgnc_id": 15910,
"hgvs_c": "n.*392C>A",
"hgvs_p": null,
"transcript": "ENST00000440385.5",
"protein_id": "ENSP00000392871.1",
"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": "ENST00000440385.5"
},
{
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000272897",
"gene_hgnc_id": null,
"hgvs_c": "n.156+3104C>A",
"hgvs_p": null,
"transcript": "ENST00000441563.5",
"protein_id": "ENSP00000411232.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000441563.5"
},
{
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000272897",
"gene_hgnc_id": null,
"hgvs_c": "n.224+3104C>A",
"hgvs_p": null,
"transcript": "ENST00000454607.5",
"protein_id": "ENSP00000395201.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000454607.5"
}
],
"gene_symbol": "NFS1",
"gene_hgnc_id": 15910,
"dbsnp": "rs180670660",
"frequency_reference_population": 0.000013010814,
"hom_count_reference_population": 0,
"allele_count_reference_population": 21,
"gnomad_exomes_af": 0.0000116298,
"gnomad_genomes_af": 0.0000262664,
"gnomad_exomes_ac": 17,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07801195979118347,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.074,
"revel_prediction": "Benign",
"alphamissense_score": 0.12,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.251,
"phylop100way_prediction": "Uncertain_significance",
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_021100.5",
"gene_symbol": "NFS1",
"hgnc_id": 15910,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1345C>A",
"hgvs_p": "p.Leu449Ile"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000541176.2",
"gene_symbol": "ENSG00000272897",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.287+3104C>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
}