← 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: 1-92840626-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=92840626&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 92840626,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000969.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL5",
"gene_hgnc_id": 10360,
"hgvs_c": "c.781G>A",
"hgvs_p": "p.Val261Ile",
"transcript": "NM_000969.5",
"protein_id": "NP_000960.2",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 297,
"cds_start": 781,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000370321.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000969.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL5",
"gene_hgnc_id": 10360,
"hgvs_c": "c.781G>A",
"hgvs_p": "p.Val261Ile",
"transcript": "ENST00000370321.8",
"protein_id": "ENSP00000359345.2",
"transcript_support_level": 1,
"aa_start": 261,
"aa_end": null,
"aa_length": 297,
"cds_start": 781,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000969.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370321.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DIPK1A",
"gene_hgnc_id": 32213,
"hgvs_c": "c.474+6557C>T",
"hgvs_p": null,
"transcript": "ENST00000615519.4",
"protein_id": "ENSP00000483279.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 162,
"cds_start": null,
"cds_end": null,
"cds_length": 489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000615519.4"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL5",
"gene_hgnc_id": 10360,
"hgvs_c": "c.775G>A",
"hgvs_p": "p.Val259Ile",
"transcript": "ENST00000880515.1",
"protein_id": "ENSP00000550574.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 295,
"cds_start": 775,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880515.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL5",
"gene_hgnc_id": 10360,
"hgvs_c": "c.772G>A",
"hgvs_p": "p.Val258Ile",
"transcript": "ENST00000880516.1",
"protein_id": "ENSP00000550575.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 294,
"cds_start": 772,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880516.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL5",
"gene_hgnc_id": 10360,
"hgvs_c": "c.754G>A",
"hgvs_p": "p.Val252Ile",
"transcript": "ENST00000933851.1",
"protein_id": "ENSP00000603910.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 288,
"cds_start": 754,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933851.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL5",
"gene_hgnc_id": 10360,
"hgvs_c": "c.748G>A",
"hgvs_p": "p.Val250Ile",
"transcript": "ENST00000880518.1",
"protein_id": "ENSP00000550577.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 286,
"cds_start": 748,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880518.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL5",
"gene_hgnc_id": 10360,
"hgvs_c": "c.742G>A",
"hgvs_p": "p.Val248Ile",
"transcript": "ENST00000880514.1",
"protein_id": "ENSP00000550573.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 284,
"cds_start": 742,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880514.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL5",
"gene_hgnc_id": 10360,
"hgvs_c": "c.646G>A",
"hgvs_p": "p.Val216Ile",
"transcript": "ENST00000933849.1",
"protein_id": "ENSP00000603908.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 252,
"cds_start": 646,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933849.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL5",
"gene_hgnc_id": 10360,
"hgvs_c": "c.613G>A",
"hgvs_p": "p.Val205Ile",
"transcript": "ENST00000933854.1",
"protein_id": "ENSP00000603913.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 241,
"cds_start": 613,
"cds_end": null,
"cds_length": 726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933854.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL5",
"gene_hgnc_id": 10360,
"hgvs_c": "c.631G>A",
"hgvs_p": "p.Val211Ile",
"transcript": "ENST00000645300.1",
"protein_id": "ENSP00000495589.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 237,
"cds_start": 631,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645300.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL5",
"gene_hgnc_id": 10360,
"hgvs_c": "c.595G>A",
"hgvs_p": "p.Val199Ile",
"transcript": "ENST00000933852.1",
"protein_id": "ENSP00000603911.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 235,
"cds_start": 595,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933852.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL5",
"gene_hgnc_id": 10360,
"hgvs_c": "c.517G>A",
"hgvs_p": "p.Val173Ile",
"transcript": "ENST00000933853.1",
"protein_id": "ENSP00000603912.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 209,
"cds_start": 517,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933853.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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": "RPL5",
"gene_hgnc_id": 10360,
"hgvs_c": "c.460G>A",
"hgvs_p": "p.Val154Ile",
"transcript": "ENST00000880517.1",
"protein_id": "ENSP00000550576.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 190,
"cds_start": 460,
"cds_end": null,
"cds_length": 573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880517.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL5",
"gene_hgnc_id": 10360,
"hgvs_c": "c.400G>A",
"hgvs_p": "p.Val134Ile",
"transcript": "ENST00000645119.1",
"protein_id": "ENSP00000493811.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 170,
"cds_start": 400,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645119.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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": "RPL5",
"gene_hgnc_id": 10360,
"hgvs_c": "c.265G>A",
"hgvs_p": "p.Val89Ile",
"transcript": "ENST00000880519.1",
"protein_id": "ENSP00000550578.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 125,
"cds_start": 265,
"cds_end": null,
"cds_length": 378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880519.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL5",
"gene_hgnc_id": 10360,
"hgvs_c": "c.79G>A",
"hgvs_p": "p.Val27Ile",
"transcript": "ENST00000933850.1",
"protein_id": "ENSP00000603909.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 63,
"cds_start": 79,
"cds_end": null,
"cds_length": 192,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933850.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DIPK1A",
"gene_hgnc_id": 32213,
"hgvs_c": "c.474+6557C>T",
"hgvs_p": null,
"transcript": "NM_001252273.2",
"protein_id": "NP_001239202.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 162,
"cds_start": null,
"cds_end": null,
"cds_length": 489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001252273.2"
},
{
"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": "RPL5",
"gene_hgnc_id": 10360,
"hgvs_c": "n.1100G>A",
"hgvs_p": null,
"transcript": "ENST00000497519.1",
"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": "ENST00000497519.1"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL5",
"gene_hgnc_id": 10360,
"hgvs_c": "n.102G>A",
"hgvs_p": null,
"transcript": "ENST00000644549.1",
"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": "retained_intron",
"feature": "ENST00000644549.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL5",
"gene_hgnc_id": 10360,
"hgvs_c": "n.840G>A",
"hgvs_p": null,
"transcript": "NR_146333.1",
"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_146333.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNORA66",
"gene_hgnc_id": 10223,
"hgvs_c": "n.-93G>A",
"hgvs_p": null,
"transcript": "ENST00000384792.1",
"protein_id": null,
"transcript_support_level": 6,
"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": "snoRNA",
"feature": "ENST00000384792.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNORA66",
"gene_hgnc_id": 10223,
"hgvs_c": "n.-93G>A",
"hgvs_p": null,
"transcript": "NR_002444.2",
"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": "snoRNA",
"feature": "NR_002444.2"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL5",
"gene_hgnc_id": 10360,
"hgvs_c": "n.*20G>A",
"hgvs_p": null,
"transcript": "ENST00000643510.1",
"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": "ENST00000643510.1"
}
],
"gene_symbol": "RPL5",
"gene_hgnc_id": 10360,
"dbsnp": "rs773839391",
"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": 0.24083635210990906,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.068,
"revel_prediction": "Benign",
"alphamissense_score": 0.0757,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.038,
"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": 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_000969.5",
"gene_symbol": "RPL5",
"hgnc_id": 10360,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.781G>A",
"hgvs_p": "p.Val261Ile"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001252273.2",
"gene_symbol": "DIPK1A",
"hgnc_id": 32213,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.474+6557C>T",
"hgvs_p": null
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NR_002444.2",
"gene_symbol": "SNORA66",
"hgnc_id": 10223,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-93G>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}