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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: 17-49601958-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=49601958&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 49601958,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000504102.6",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "c.887A>T",
"hgvs_p": "p.Asn296Ile",
"transcript": "NM_001007228.2",
"protein_id": "NP_001007229.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 374,
"cds_start": 887,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 1118,
"cdna_end": null,
"cdna_length": 2850,
"mane_select": "ENST00000504102.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "c.887A>T",
"hgvs_p": "p.Asn296Ile",
"transcript": "ENST00000504102.6",
"protein_id": "ENSP00000425905.1",
"transcript_support_level": 1,
"aa_start": 296,
"aa_end": null,
"aa_length": 374,
"cds_start": 887,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 1118,
"cdna_end": null,
"cdna_length": 2850,
"mane_select": "NM_001007228.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "c.887A>T",
"hgvs_p": "p.Asn296Ile",
"transcript": "ENST00000393328.6",
"protein_id": "ENSP00000377001.2",
"transcript_support_level": 1,
"aa_start": 296,
"aa_end": null,
"aa_length": 374,
"cds_start": 887,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 1253,
"cdna_end": null,
"cdna_length": 2985,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "c.887A>T",
"hgvs_p": "p.Asn296Ile",
"transcript": "NM_001007226.1",
"protein_id": "NP_001007227.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 374,
"cds_start": 887,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 1358,
"cdna_end": null,
"cdna_length": 3090,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "c.887A>T",
"hgvs_p": "p.Asn296Ile",
"transcript": "NM_001007227.1",
"protein_id": "NP_001007228.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 374,
"cds_start": 887,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 1236,
"cdna_end": null,
"cdna_length": 2968,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "c.887A>T",
"hgvs_p": "p.Asn296Ile",
"transcript": "NM_001007229.1",
"protein_id": "NP_001007230.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 374,
"cds_start": 887,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 1235,
"cdna_end": null,
"cdna_length": 2967,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "c.887A>T",
"hgvs_p": "p.Asn296Ile",
"transcript": "NM_001007230.1",
"protein_id": "NP_001007231.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 374,
"cds_start": 887,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 1287,
"cdna_end": null,
"cdna_length": 3019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "c.887A>T",
"hgvs_p": "p.Asn296Ile",
"transcript": "NM_001370730.1",
"protein_id": "NP_001357659.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 374,
"cds_start": 887,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 1407,
"cdna_end": null,
"cdna_length": 3139,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "c.887A>T",
"hgvs_p": "p.Asn296Ile",
"transcript": "NM_001370731.1",
"protein_id": "NP_001357660.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 374,
"cds_start": 887,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 1356,
"cdna_end": null,
"cdna_length": 3088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "c.887A>T",
"hgvs_p": "p.Asn296Ile",
"transcript": "NM_001370732.1",
"protein_id": "NP_001357661.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 374,
"cds_start": 887,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 973,
"cdna_end": null,
"cdna_length": 2705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "c.887A>T",
"hgvs_p": "p.Asn296Ile",
"transcript": "NM_003563.3",
"protein_id": "NP_003554.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 374,
"cds_start": 887,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 1306,
"cdna_end": null,
"cdna_length": 3038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "c.887A>T",
"hgvs_p": "p.Asn296Ile",
"transcript": "ENST00000347630.6",
"protein_id": "ENSP00000240327.2",
"transcript_support_level": 5,
"aa_start": 296,
"aa_end": null,
"aa_length": 374,
"cds_start": 887,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 1235,
"cdna_end": null,
"cdna_length": 2965,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "c.887A>T",
"hgvs_p": "p.Asn296Ile",
"transcript": "ENST00000503676.5",
"protein_id": "ENSP00000420908.1",
"transcript_support_level": 2,
"aa_start": 296,
"aa_end": null,
"aa_length": 374,
"cds_start": 887,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 1519,
"cdna_end": null,
"cdna_length": 1932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "c.887A>T",
"hgvs_p": "p.Asn296Ile",
"transcript": "ENST00000509079.6",
"protein_id": "ENSP00000426986.2",
"transcript_support_level": 5,
"aa_start": 296,
"aa_end": null,
"aa_length": 374,
"cds_start": 887,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 1234,
"cdna_end": null,
"cdna_length": 1860,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "c.887A>T",
"hgvs_p": "p.Asn296Ile",
"transcript": "ENST00000514121.6",
"protein_id": "ENSP00000424119.2",
"transcript_support_level": 4,
"aa_start": 296,
"aa_end": null,
"aa_length": 374,
"cds_start": 887,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 1345,
"cdna_end": null,
"cdna_length": 2414,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "c.887A>T",
"hgvs_p": "p.Asn296Ile",
"transcript": "ENST00000665825.1",
"protein_id": "ENSP00000499562.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 374,
"cds_start": 887,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 1391,
"cdna_end": null,
"cdna_length": 2480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "c.887A>T",
"hgvs_p": "p.Asn296Ile",
"transcript": "XM_024450995.2",
"protein_id": "XP_024306763.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 374,
"cds_start": 887,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 1007,
"cdna_end": null,
"cdna_length": 2739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "n.441A>T",
"hgvs_p": null,
"transcript": "ENST00000507551.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "n.*736A>T",
"hgvs_p": null,
"transcript": "ENST00000513080.6",
"protein_id": "ENSP00000499333.1",
"transcript_support_level": 4,
"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": 1707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "n.84A>T",
"hgvs_p": null,
"transcript": "ENST00000577134.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 421,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "n.*449A>T",
"hgvs_p": null,
"transcript": "ENST00000659760.1",
"protein_id": "ENSP00000499367.1",
"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": 2081,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "n.*736A>T",
"hgvs_p": null,
"transcript": "ENST00000671445.1",
"protein_id": "ENSP00000499537.1",
"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": 1716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "n.*736A>T",
"hgvs_p": null,
"transcript": "ENST00000513080.6",
"protein_id": "ENSP00000499333.1",
"transcript_support_level": 4,
"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": 1707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "n.*449A>T",
"hgvs_p": null,
"transcript": "ENST00000659760.1",
"protein_id": "ENSP00000499367.1",
"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": 2081,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "n.*736A>T",
"hgvs_p": null,
"transcript": "ENST00000671445.1",
"protein_id": "ENSP00000499537.1",
"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": 1716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"dbsnp": "rs727502792",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7237335443496704,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.749,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.3421,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.603,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP2",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000504102.6",
"gene_symbol": "SPOP",
"hgnc_id": 11254,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.887A>T",
"hgvs_p": "p.Asn296Ile"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}