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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: 17-30179289-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=30179289&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 30179289,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_032141.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"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": "NSRP1",
"gene_hgnc_id": 25305,
"hgvs_c": "c.500C>T",
"hgvs_p": "p.Ala167Val",
"transcript": "NM_032141.4",
"protein_id": "NP_115517.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 558,
"cds_start": 500,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000247026.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032141.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"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": "NSRP1",
"gene_hgnc_id": 25305,
"hgvs_c": "c.500C>T",
"hgvs_p": "p.Ala167Val",
"transcript": "ENST00000247026.10",
"protein_id": "ENSP00000247026.5",
"transcript_support_level": 1,
"aa_start": 167,
"aa_end": null,
"aa_length": 558,
"cds_start": 500,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032141.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000247026.10"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSRP1",
"gene_hgnc_id": 25305,
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Ala113Val",
"transcript": "ENST00000612959.4",
"protein_id": "ENSP00000477862.1",
"transcript_support_level": 1,
"aa_start": 113,
"aa_end": null,
"aa_length": 504,
"cds_start": 338,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000612959.4"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSRP1",
"gene_hgnc_id": 25305,
"hgvs_c": "n.*376C>T",
"hgvs_p": null,
"transcript": "ENST00000394826.8",
"protein_id": "ENSP00000378303.4",
"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": "ENST00000394826.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSRP1",
"gene_hgnc_id": 25305,
"hgvs_c": "n.*405C>T",
"hgvs_p": null,
"transcript": "ENST00000475652.5",
"protein_id": "ENSP00000464569.1",
"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": "ENST00000475652.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSRP1",
"gene_hgnc_id": 25305,
"hgvs_c": "n.*376C>T",
"hgvs_p": null,
"transcript": "ENST00000394826.8",
"protein_id": "ENSP00000378303.4",
"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": "ENST00000394826.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSRP1",
"gene_hgnc_id": 25305,
"hgvs_c": "n.*405C>T",
"hgvs_p": null,
"transcript": "ENST00000475652.5",
"protein_id": "ENSP00000464569.1",
"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": "ENST00000475652.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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": "NSRP1",
"gene_hgnc_id": 25305,
"hgvs_c": "c.494C>T",
"hgvs_p": "p.Ala165Val",
"transcript": "ENST00000930609.1",
"protein_id": "ENSP00000600668.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 556,
"cds_start": 494,
"cds_end": null,
"cds_length": 1671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930609.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSRP1",
"gene_hgnc_id": 25305,
"hgvs_c": "c.443C>T",
"hgvs_p": "p.Ala148Val",
"transcript": "ENST00000870657.1",
"protein_id": "ENSP00000540716.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 539,
"cds_start": 443,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870657.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSRP1",
"gene_hgnc_id": 25305,
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Ala113Val",
"transcript": "NM_001261467.2",
"protein_id": "NP_001248396.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 504,
"cds_start": 338,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001261467.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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": "NSRP1",
"gene_hgnc_id": 25305,
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Ala113Val",
"transcript": "ENST00000580103.6",
"protein_id": "ENSP00000468327.1",
"transcript_support_level": 5,
"aa_start": 113,
"aa_end": null,
"aa_length": 156,
"cds_start": 338,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000580103.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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": "NSRP1",
"gene_hgnc_id": 25305,
"hgvs_c": "c.653C>T",
"hgvs_p": "p.Ala218Val",
"transcript": "XM_047436916.1",
"protein_id": "XP_047292872.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 609,
"cds_start": 653,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436916.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSRP1",
"gene_hgnc_id": 25305,
"hgvs_c": "c.590C>T",
"hgvs_p": "p.Ala197Val",
"transcript": "XM_047436917.1",
"protein_id": "XP_047292873.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 588,
"cds_start": 590,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436917.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSRP1",
"gene_hgnc_id": 25305,
"hgvs_c": "c.590C>T",
"hgvs_p": "p.Ala197Val",
"transcript": "XM_047436918.1",
"protein_id": "XP_047292874.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 588,
"cds_start": 590,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436918.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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": "NSRP1",
"gene_hgnc_id": 25305,
"hgvs_c": "c.437C>T",
"hgvs_p": "p.Ala146Val",
"transcript": "XM_011525345.3",
"protein_id": "XP_011523647.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 537,
"cds_start": 437,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525345.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSRP1",
"gene_hgnc_id": 25305,
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Ala113Val",
"transcript": "XM_047436919.1",
"protein_id": "XP_047292875.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 504,
"cds_start": 338,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436919.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSRP1",
"gene_hgnc_id": 25305,
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Ala113Val",
"transcript": "XM_047436920.1",
"protein_id": "XP_047292876.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 504,
"cds_start": 338,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436920.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSRP1",
"gene_hgnc_id": 25305,
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Ala113Val",
"transcript": "XM_047436921.1",
"protein_id": "XP_047292877.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 504,
"cds_start": 338,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436921.1"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSRP1",
"gene_hgnc_id": 25305,
"hgvs_c": "n.707C>T",
"hgvs_p": null,
"transcript": "ENST00000540900.7",
"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": "pseudogene",
"feature": "ENST00000540900.7"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSRP1",
"gene_hgnc_id": 25305,
"hgvs_c": "n.527C>T",
"hgvs_p": null,
"transcript": "ENST00000577289.6",
"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": "pseudogene",
"feature": "ENST00000577289.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSRP1",
"gene_hgnc_id": 25305,
"hgvs_c": "c.*25C>T",
"hgvs_p": null,
"transcript": "ENST00000588614.1",
"protein_id": "ENSP00000466463.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 103,
"cds_start": null,
"cds_end": null,
"cds_length": 313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000588614.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSRP1",
"gene_hgnc_id": 25305,
"hgvs_c": "c.*145C>T",
"hgvs_p": null,
"transcript": "ENST00000585881.5",
"protein_id": "ENSP00000465442.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 63,
"cds_start": null,
"cds_end": null,
"cds_length": 193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000585881.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSRP1",
"gene_hgnc_id": 25305,
"hgvs_c": "n.*97C>T",
"hgvs_p": null,
"transcript": "ENST00000581048.5",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000581048.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSRP1",
"gene_hgnc_id": 25305,
"hgvs_c": "n.*483C>T",
"hgvs_p": null,
"transcript": "ENST00000584154.5",
"protein_id": "ENSP00000462820.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000584154.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSRP1",
"gene_hgnc_id": 25305,
"hgvs_c": "n.*494C>T",
"hgvs_p": null,
"transcript": "ENST00000584317.5",
"protein_id": "ENSP00000463722.1",
"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": "ENST00000584317.5"
}
],
"gene_symbol": "NSRP1",
"gene_hgnc_id": 25305,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4054111838340759,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.31,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2717,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.119,
"phylop100way_prediction": "Benign",
"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_032141.4",
"gene_symbol": "NSRP1",
"hgnc_id": 25305,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.500C>T",
"hgvs_p": "p.Ala167Val"
}
],
"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
}