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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: 15-88475235-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=88475235&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 88475235,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_022839.5",
"consequences": [
{
"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": "MRPS11",
"gene_hgnc_id": 14050,
"hgvs_c": "c.407C>T",
"hgvs_p": "p.Ala136Val",
"transcript": "NM_022839.5",
"protein_id": "NP_073750.2",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 194,
"cds_start": 407,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000325844.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022839.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"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": "MRPS11",
"gene_hgnc_id": 14050,
"hgvs_c": "c.407C>T",
"hgvs_p": "p.Ala136Val",
"transcript": "ENST00000325844.9",
"protein_id": "ENSP00000317376.4",
"transcript_support_level": 1,
"aa_start": 136,
"aa_end": null,
"aa_length": 194,
"cds_start": 407,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022839.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000325844.9"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS11",
"gene_hgnc_id": 14050,
"hgvs_c": "c.308C>T",
"hgvs_p": "p.Ala103Val",
"transcript": "ENST00000353598.6",
"protein_id": "ENSP00000318054.7",
"transcript_support_level": 1,
"aa_start": 103,
"aa_end": null,
"aa_length": 161,
"cds_start": 308,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000353598.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ENSG00000173867",
"gene_hgnc_id": null,
"hgvs_c": "c.*756-9462G>A",
"hgvs_p": null,
"transcript": "ENST00000649547.1",
"protein_id": "ENSP00000497509.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 550,
"cds_start": null,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649547.1"
},
{
"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": "MRPS11",
"gene_hgnc_id": 14050,
"hgvs_c": "c.407C>T",
"hgvs_p": "p.Ala136Val",
"transcript": "ENST00000915414.1",
"protein_id": "ENSP00000585473.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 194,
"cds_start": 407,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915414.1"
},
{
"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": "MRPS11",
"gene_hgnc_id": 14050,
"hgvs_c": "c.404C>T",
"hgvs_p": "p.Ala135Val",
"transcript": "NM_001321970.2",
"protein_id": "NP_001308899.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 193,
"cds_start": 404,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321970.2"
},
{
"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": "MRPS11",
"gene_hgnc_id": 14050,
"hgvs_c": "c.404C>T",
"hgvs_p": "p.Ala135Val",
"transcript": "ENST00000892746.1",
"protein_id": "ENSP00000562805.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 193,
"cds_start": 404,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892746.1"
},
{
"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": "MRPS11",
"gene_hgnc_id": 14050,
"hgvs_c": "c.404C>T",
"hgvs_p": "p.Ala135Val",
"transcript": "ENST00000915412.1",
"protein_id": "ENSP00000585471.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 193,
"cds_start": 404,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915412.1"
},
{
"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": "MRPS11",
"gene_hgnc_id": 14050,
"hgvs_c": "c.404C>T",
"hgvs_p": "p.Ala135Val",
"transcript": "ENST00000958955.1",
"protein_id": "ENSP00000629014.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 193,
"cds_start": 404,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958955.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS11",
"gene_hgnc_id": 14050,
"hgvs_c": "c.407C>T",
"hgvs_p": "p.Ala136Val",
"transcript": "ENST00000892747.1",
"protein_id": "ENSP00000562806.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 172,
"cds_start": 407,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892747.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS11",
"gene_hgnc_id": 14050,
"hgvs_c": "c.404C>T",
"hgvs_p": "p.Ala135Val",
"transcript": "ENST00000915413.1",
"protein_id": "ENSP00000585472.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 171,
"cds_start": 404,
"cds_end": null,
"cds_length": 516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915413.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS11",
"gene_hgnc_id": 14050,
"hgvs_c": "c.308C>T",
"hgvs_p": "p.Ala103Val",
"transcript": "NM_176805.4",
"protein_id": "NP_789775.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 161,
"cds_start": 308,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_176805.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS11",
"gene_hgnc_id": 14050,
"hgvs_c": "c.305C>T",
"hgvs_p": "p.Ala102Val",
"transcript": "ENST00000915415.1",
"protein_id": "ENSP00000585474.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 160,
"cds_start": 305,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915415.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS11",
"gene_hgnc_id": 14050,
"hgvs_c": "c.305C>T",
"hgvs_p": "p.Ala102Val",
"transcript": "ENST00000958956.1",
"protein_id": "ENSP00000629015.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 160,
"cds_start": 305,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958956.1"
},
{
"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": "MRPS11",
"gene_hgnc_id": 14050,
"hgvs_c": "c.302C>T",
"hgvs_p": "p.Ala101Val",
"transcript": "NM_001321972.2",
"protein_id": "NP_001308901.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 159,
"cds_start": 302,
"cds_end": null,
"cds_length": 480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321972.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS11",
"gene_hgnc_id": 14050,
"hgvs_c": "n.401C>T",
"hgvs_p": null,
"transcript": "ENST00000557974.5",
"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": "ENST00000557974.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS11",
"gene_hgnc_id": 14050,
"hgvs_c": "n.514C>T",
"hgvs_p": null,
"transcript": "ENST00000558406.5",
"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": "ENST00000558406.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS11",
"gene_hgnc_id": 14050,
"hgvs_c": "n.345C>T",
"hgvs_p": null,
"transcript": "ENST00000558548.5",
"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": "retained_intron",
"feature": "ENST00000558548.5"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS11",
"gene_hgnc_id": 14050,
"hgvs_c": "n.1540C>T",
"hgvs_p": null,
"transcript": "ENST00000559323.5",
"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": "ENST00000559323.5"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS11",
"gene_hgnc_id": 14050,
"hgvs_c": "n.345C>T",
"hgvs_p": null,
"transcript": "ENST00000560708.5",
"protein_id": "ENSP00000453116.1",
"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": "ENST00000560708.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS11",
"gene_hgnc_id": 14050,
"hgvs_c": "n.398C>T",
"hgvs_p": null,
"transcript": "NR_135915.2",
"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_135915.2"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS11",
"gene_hgnc_id": 14050,
"hgvs_c": "n.397C>T",
"hgvs_p": null,
"transcript": "NR_135917.2",
"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_135917.2"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS11",
"gene_hgnc_id": 14050,
"hgvs_c": "n.355C>T",
"hgvs_p": null,
"transcript": "NR_135918.2",
"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_135918.2"
},
{
"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": "ENSG00000173867",
"gene_hgnc_id": null,
"hgvs_c": "n.91-9462G>A",
"hgvs_p": null,
"transcript": "ENST00000561140.1",
"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": "ENST00000561140.1"
}
],
"gene_symbol": "MRPS11",
"gene_hgnc_id": 14050,
"dbsnp": "rs779480334",
"frequency_reference_population": 0.000027261598,
"hom_count_reference_population": 0,
"allele_count_reference_population": 44,
"gnomad_exomes_af": 0.0000280478,
"gnomad_genomes_af": 0.0000197106,
"gnomad_exomes_ac": 41,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8664227724075317,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.348,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.7048,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.12,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.047,
"phylop100way_prediction": "Uncertain_significance",
"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": "Likely_benign",
"acmg_criteria": "PP3_Moderate,BS2",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PP3_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_022839.5",
"gene_symbol": "MRPS11",
"hgnc_id": 14050,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.407C>T",
"hgvs_p": "p.Ala136Val"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000649547.1",
"gene_symbol": "ENSG00000173867",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.*756-9462G>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
}