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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: 20-58991053-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=58991053&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 58991053,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_198976.4",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NELFCD",
"gene_hgnc_id": 15934,
"hgvs_c": "c.932T>C",
"hgvs_p": "p.Met311Thr",
"transcript": "NM_198976.4",
"protein_id": "NP_945327.3",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 581,
"cds_start": 932,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000652272.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198976.4"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NELFCD",
"gene_hgnc_id": 15934,
"hgvs_c": "c.932T>C",
"hgvs_p": "p.Met311Thr",
"transcript": "ENST00000652272.2",
"protein_id": "ENSP00000499018.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 581,
"cds_start": 932,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_198976.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652272.2"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NELFCD",
"gene_hgnc_id": 15934,
"hgvs_c": "c.986T>C",
"hgvs_p": "p.Met329Thr",
"transcript": "ENST00000602795.6",
"protein_id": "ENSP00000473290.1",
"transcript_support_level": 1,
"aa_start": 329,
"aa_end": null,
"aa_length": 599,
"cds_start": 986,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000602795.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NELFCD",
"gene_hgnc_id": 15934,
"hgvs_c": "n.965T>C",
"hgvs_p": null,
"transcript": "ENST00000460601.5",
"protein_id": "ENSP00000436783.2",
"transcript_support_level": 1,
"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": "ENST00000460601.5"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NELFCD",
"gene_hgnc_id": 15934,
"hgvs_c": "n.888T>C",
"hgvs_p": null,
"transcript": "ENST00000477741.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000477741.5"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NELFCD",
"gene_hgnc_id": 15934,
"hgvs_c": "c.929T>C",
"hgvs_p": "p.Met310Thr",
"transcript": "ENST00000905231.1",
"protein_id": "ENSP00000575290.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 580,
"cds_start": 929,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905231.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NELFCD",
"gene_hgnc_id": 15934,
"hgvs_c": "c.929T>C",
"hgvs_p": "p.Met310Thr",
"transcript": "ENST00000905239.1",
"protein_id": "ENSP00000575298.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 580,
"cds_start": 929,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905239.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NELFCD",
"gene_hgnc_id": 15934,
"hgvs_c": "c.932T>C",
"hgvs_p": "p.Met311Thr",
"transcript": "ENST00000958299.1",
"protein_id": "ENSP00000628358.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 579,
"cds_start": 932,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958299.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NELFCD",
"gene_hgnc_id": 15934,
"hgvs_c": "c.920T>C",
"hgvs_p": "p.Met307Thr",
"transcript": "ENST00000905237.1",
"protein_id": "ENSP00000575296.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 577,
"cds_start": 920,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905237.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NELFCD",
"gene_hgnc_id": 15934,
"hgvs_c": "c.932T>C",
"hgvs_p": "p.Met311Thr",
"transcript": "ENST00000905238.1",
"protein_id": "ENSP00000575297.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 570,
"cds_start": 932,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905238.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NELFCD",
"gene_hgnc_id": 15934,
"hgvs_c": "c.929T>C",
"hgvs_p": "p.Met310Thr",
"transcript": "ENST00000905233.1",
"protein_id": "ENSP00000575292.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 569,
"cds_start": 929,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905233.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NELFCD",
"gene_hgnc_id": 15934,
"hgvs_c": "c.932T>C",
"hgvs_p": "p.Met311Thr",
"transcript": "ENST00000905236.1",
"protein_id": "ENSP00000575295.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 569,
"cds_start": 932,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905236.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NELFCD",
"gene_hgnc_id": 15934,
"hgvs_c": "c.932T>C",
"hgvs_p": "p.Met311Thr",
"transcript": "ENST00000905232.1",
"protein_id": "ENSP00000575291.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 565,
"cds_start": 932,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905232.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NELFCD",
"gene_hgnc_id": 15934,
"hgvs_c": "c.932T>C",
"hgvs_p": "p.Met311Thr",
"transcript": "ENST00000905230.1",
"protein_id": "ENSP00000575289.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 553,
"cds_start": 932,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905230.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NELFCD",
"gene_hgnc_id": 15934,
"hgvs_c": "c.932T>C",
"hgvs_p": "p.Met311Thr",
"transcript": "ENST00000915031.1",
"protein_id": "ENSP00000585090.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 549,
"cds_start": 932,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915031.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NELFCD",
"gene_hgnc_id": 15934,
"hgvs_c": "c.932T>C",
"hgvs_p": "p.Met311Thr",
"transcript": "ENST00000915030.1",
"protein_id": "ENSP00000585089.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 534,
"cds_start": 932,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915030.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NELFCD",
"gene_hgnc_id": 15934,
"hgvs_c": "c.932T>C",
"hgvs_p": "p.Met311Thr",
"transcript": "ENST00000958300.1",
"protein_id": "ENSP00000628359.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 502,
"cds_start": 932,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958300.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NELFCD",
"gene_hgnc_id": 15934,
"hgvs_c": "c.320T>C",
"hgvs_p": "p.Met107Thr",
"transcript": "ENST00000905234.1",
"protein_id": "ENSP00000575293.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 377,
"cds_start": 320,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905234.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NELFCD",
"gene_hgnc_id": 15934,
"hgvs_c": "c.320T>C",
"hgvs_p": "p.Met107Thr",
"transcript": "ENST00000905235.1",
"protein_id": "ENSP00000575294.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 298,
"cds_start": 320,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905235.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NELFCD",
"gene_hgnc_id": 15934,
"hgvs_c": "c.986T>C",
"hgvs_p": "p.Met329Thr",
"transcript": "XM_047440188.1",
"protein_id": "XP_047296144.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 526,
"cds_start": 986,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440188.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSZ",
"gene_hgnc_id": 2547,
"hgvs_c": "c.*320A>G",
"hgvs_p": null,
"transcript": "ENST00000680879.1",
"protein_id": "ENSP00000505285.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 314,
"cds_start": null,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680879.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSZ",
"gene_hgnc_id": 2547,
"hgvs_c": "c.*4596A>G",
"hgvs_p": null,
"transcript": "ENST00000681011.1",
"protein_id": "ENSP00000505520.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 289,
"cds_start": null,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681011.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NELFCD",
"gene_hgnc_id": 15934,
"hgvs_c": "n.431T>C",
"hgvs_p": null,
"transcript": "ENST00000474543.5",
"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": "ENST00000474543.5"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NELFCD",
"gene_hgnc_id": 15934,
"hgvs_c": "n.959T>C",
"hgvs_p": null,
"transcript": "ENST00000478389.5",
"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": "ENST00000478389.5"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NELFCD",
"gene_hgnc_id": 15934,
"hgvs_c": "n.17T>C",
"hgvs_p": null,
"transcript": "ENST00000490205.1",
"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": "ENST00000490205.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NELFCD",
"gene_hgnc_id": 15934,
"hgvs_c": "n.158T>C",
"hgvs_p": null,
"transcript": "ENST00000497935.5",
"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": "pseudogene",
"feature": "ENST00000497935.5"
}
],
"gene_symbol": "NELFCD",
"gene_hgnc_id": 15934,
"dbsnp": null,
"frequency_reference_population": 6.842669e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84267e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.44714146852493286,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.292,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1189,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": 0.09,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.956,
"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": 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_198976.4",
"gene_symbol": "NELFCD",
"hgnc_id": 15934,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.932T>C",
"hgvs_p": "p.Met311Thr"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000680879.1",
"gene_symbol": "CTSZ",
"hgnc_id": 2547,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.*320A>G",
"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
}