← 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: 10-81875908-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=81875908&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 81875908,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001010848.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG3",
"gene_hgnc_id": 7999,
"hgvs_c": "c.568C>T",
"hgvs_p": "p.Pro190Ser",
"transcript": "NM_001010848.4",
"protein_id": "NP_001010848.2",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 696,
"cds_start": 568,
"cds_end": null,
"cds_length": 2091,
"cdna_start": 715,
"cdna_end": null,
"cdna_length": 3811,
"mane_select": "ENST00000372141.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG3",
"gene_hgnc_id": 7999,
"hgvs_c": "c.568C>T",
"hgvs_p": "p.Pro190Ser",
"transcript": "ENST00000372141.7",
"protein_id": "ENSP00000361214.2",
"transcript_support_level": 1,
"aa_start": 190,
"aa_end": null,
"aa_length": 696,
"cds_start": 568,
"cds_end": null,
"cds_length": 2091,
"cdna_start": 715,
"cdna_end": null,
"cdna_length": 3811,
"mane_select": "NM_001010848.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG3",
"gene_hgnc_id": 7999,
"hgvs_c": "c.568C>T",
"hgvs_p": "p.Pro190Ser",
"transcript": "ENST00000404547.5",
"protein_id": "ENSP00000384796.1",
"transcript_support_level": 1,
"aa_start": 190,
"aa_end": null,
"aa_length": 720,
"cds_start": 568,
"cds_end": null,
"cds_length": 2163,
"cdna_start": 568,
"cdna_end": null,
"cdna_length": 2163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG3",
"gene_hgnc_id": 7999,
"hgvs_c": "c.568C>T",
"hgvs_p": "p.Pro190Ser",
"transcript": "NM_001370084.1",
"protein_id": "NP_001357013.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 720,
"cds_start": 568,
"cds_end": null,
"cds_length": 2163,
"cdna_start": 715,
"cdna_end": null,
"cdna_length": 3883,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG3",
"gene_hgnc_id": 7999,
"hgvs_c": "c.568C>T",
"hgvs_p": "p.Pro190Ser",
"transcript": "NM_001370081.1",
"protein_id": "NP_001357010.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 696,
"cds_start": 568,
"cds_end": null,
"cds_length": 2091,
"cdna_start": 715,
"cdna_end": null,
"cdna_length": 3811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG3",
"gene_hgnc_id": 7999,
"hgvs_c": "c.568C>T",
"hgvs_p": "p.Pro190Ser",
"transcript": "NM_001165972.1",
"protein_id": "NP_001159444.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 695,
"cds_start": 568,
"cds_end": null,
"cds_length": 2088,
"cdna_start": 595,
"cdna_end": null,
"cdna_length": 3689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG3",
"gene_hgnc_id": 7999,
"hgvs_c": "c.568C>T",
"hgvs_p": "p.Pro190Ser",
"transcript": "NM_001370083.1",
"protein_id": "NP_001357012.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 320,
"cds_start": 568,
"cds_end": null,
"cds_length": 963,
"cdna_start": 715,
"cdna_end": null,
"cdna_length": 2325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG3",
"gene_hgnc_id": 7999,
"hgvs_c": "c.568C>T",
"hgvs_p": "p.Pro190Ser",
"transcript": "XM_017015573.3",
"protein_id": "XP_016871062.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 747,
"cds_start": 568,
"cds_end": null,
"cds_length": 2244,
"cdna_start": 715,
"cdna_end": null,
"cdna_length": 3965,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG3",
"gene_hgnc_id": 7999,
"hgvs_c": "c.568C>T",
"hgvs_p": "p.Pro190Ser",
"transcript": "XM_017015574.3",
"protein_id": "XP_016871063.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 746,
"cds_start": 568,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 715,
"cdna_end": null,
"cdna_length": 3962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG3",
"gene_hgnc_id": 7999,
"hgvs_c": "c.568C>T",
"hgvs_p": "p.Pro190Ser",
"transcript": "XM_017015575.3",
"protein_id": "XP_016871064.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 746,
"cds_start": 568,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 715,
"cdna_end": null,
"cdna_length": 3962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG3",
"gene_hgnc_id": 7999,
"hgvs_c": "c.568C>T",
"hgvs_p": "p.Pro190Ser",
"transcript": "XM_017015576.3",
"protein_id": "XP_016871065.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 745,
"cds_start": 568,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 715,
"cdna_end": null,
"cdna_length": 3959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG3",
"gene_hgnc_id": 7999,
"hgvs_c": "c.568C>T",
"hgvs_p": "p.Pro190Ser",
"transcript": "XM_017015577.3",
"protein_id": "XP_016871066.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 723,
"cds_start": 568,
"cds_end": null,
"cds_length": 2172,
"cdna_start": 715,
"cdna_end": null,
"cdna_length": 3893,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG3",
"gene_hgnc_id": 7999,
"hgvs_c": "c.568C>T",
"hgvs_p": "p.Pro190Ser",
"transcript": "XM_017015578.3",
"protein_id": "XP_016871067.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 722,
"cds_start": 568,
"cds_end": null,
"cds_length": 2169,
"cdna_start": 715,
"cdna_end": null,
"cdna_length": 3890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG3",
"gene_hgnc_id": 7999,
"hgvs_c": "c.568C>T",
"hgvs_p": "p.Pro190Ser",
"transcript": "XM_017015579.3",
"protein_id": "XP_016871068.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 722,
"cds_start": 568,
"cds_end": null,
"cds_length": 2169,
"cdna_start": 715,
"cdna_end": null,
"cdna_length": 3890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG3",
"gene_hgnc_id": 7999,
"hgvs_c": "c.568C>T",
"hgvs_p": "p.Pro190Ser",
"transcript": "XM_011539172.4",
"protein_id": "XP_011537474.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 721,
"cds_start": 568,
"cds_end": null,
"cds_length": 2166,
"cdna_start": 715,
"cdna_end": null,
"cdna_length": 3887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG3",
"gene_hgnc_id": 7999,
"hgvs_c": "c.568C>T",
"hgvs_p": "p.Pro190Ser",
"transcript": "XM_017015580.3",
"protein_id": "XP_016871069.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 721,
"cds_start": 568,
"cds_end": null,
"cds_length": 2166,
"cdna_start": 715,
"cdna_end": null,
"cdna_length": 3887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG3",
"gene_hgnc_id": 7999,
"hgvs_c": "c.568C>T",
"hgvs_p": "p.Pro190Ser",
"transcript": "XM_011539173.4",
"protein_id": "XP_011537475.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 720,
"cds_start": 568,
"cds_end": null,
"cds_length": 2163,
"cdna_start": 715,
"cdna_end": null,
"cdna_length": 3884,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG3",
"gene_hgnc_id": 7999,
"hgvs_c": "c.568C>T",
"hgvs_p": "p.Pro190Ser",
"transcript": "XM_047424512.1",
"protein_id": "XP_047280468.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 711,
"cds_start": 568,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 715,
"cdna_end": null,
"cdna_length": 3857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG3",
"gene_hgnc_id": 7999,
"hgvs_c": "c.568C>T",
"hgvs_p": "p.Pro190Ser",
"transcript": "XM_011539175.4",
"protein_id": "XP_011537477.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 697,
"cds_start": 568,
"cds_end": null,
"cds_length": 2094,
"cdna_start": 715,
"cdna_end": null,
"cdna_length": 3815,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG3",
"gene_hgnc_id": 7999,
"hgvs_c": "c.568C>T",
"hgvs_p": "p.Pro190Ser",
"transcript": "XM_017015584.3",
"protein_id": "XP_016871073.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 393,
"cds_start": 568,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 715,
"cdna_end": null,
"cdna_length": 3820,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG3",
"gene_hgnc_id": 7999,
"hgvs_c": "n.715C>T",
"hgvs_p": null,
"transcript": "NR_163251.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG3",
"gene_hgnc_id": 7999,
"hgvs_c": "n.715C>T",
"hgvs_p": null,
"transcript": "XR_001747009.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1895,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG3",
"gene_hgnc_id": 7999,
"hgvs_c": "c.-178C>T",
"hgvs_p": null,
"transcript": "NM_001370082.1",
"protein_id": "NP_001357011.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 507,
"cds_start": -4,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3989,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000287358",
"gene_hgnc_id": null,
"hgvs_c": "n.183+135G>A",
"hgvs_p": null,
"transcript": "ENST00000821630.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 802,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000287358",
"gene_hgnc_id": null,
"hgvs_c": "n.97+135G>A",
"hgvs_p": null,
"transcript": "ENST00000821631.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000287358",
"gene_hgnc_id": null,
"hgvs_c": "n.87+135G>A",
"hgvs_p": null,
"transcript": "ENST00000821632.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NRG3",
"gene_hgnc_id": 7999,
"dbsnp": "rs772311837",
"frequency_reference_population": 0.0000062003505,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000547717,
"gnomad_genomes_af": 0.0000131403,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.18178746104240417,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.063,
"revel_prediction": "Benign",
"alphamissense_score": 0.0729,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.62,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.069,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001010848.4",
"gene_symbol": "NRG3",
"hgnc_id": 7999,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.568C>T",
"hgvs_p": "p.Pro190Ser"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000821630.1",
"gene_symbol": "ENSG00000287358",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.183+135G>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
}