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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: 4-15563485-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=15563485&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 15563485,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "NM_001080522.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2A",
"gene_hgnc_id": 29253,
"hgvs_c": "c.3145C>T",
"hgvs_p": "p.Arg1049*",
"transcript": "NM_001378615.1",
"protein_id": "NP_001365544.1",
"transcript_support_level": null,
"aa_start": 1049,
"aa_end": null,
"aa_length": 1620,
"cds_start": 3145,
"cds_end": null,
"cds_length": 4863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000424120.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378615.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2A",
"gene_hgnc_id": 29253,
"hgvs_c": "c.3145C>T",
"hgvs_p": "p.Arg1049*",
"transcript": "ENST00000424120.6",
"protein_id": "ENSP00000403465.1",
"transcript_support_level": 5,
"aa_start": 1049,
"aa_end": null,
"aa_length": 1620,
"cds_start": 3145,
"cds_end": null,
"cds_length": 4863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001378615.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000424120.6"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2A",
"gene_hgnc_id": 29253,
"hgvs_c": "c.3145C>T",
"hgvs_p": "p.Arg1049*",
"transcript": "ENST00000503292.6",
"protein_id": "ENSP00000421809.1",
"transcript_support_level": 1,
"aa_start": 1049,
"aa_end": null,
"aa_length": 1620,
"cds_start": 3145,
"cds_end": null,
"cds_length": 4863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000503292.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2A",
"gene_hgnc_id": 29253,
"hgvs_c": "n.2998C>T",
"hgvs_p": null,
"transcript": "ENST00000634028.2",
"protein_id": "ENSP00000488669.2",
"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": "ENST00000634028.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2A",
"gene_hgnc_id": 29253,
"hgvs_c": "c.3160C>T",
"hgvs_p": "p.Arg1054*",
"transcript": "ENST00000389652.11",
"protein_id": "ENSP00000374303.8",
"transcript_support_level": 5,
"aa_start": 1054,
"aa_end": null,
"aa_length": 1632,
"cds_start": 3160,
"cds_end": null,
"cds_length": 4899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000389652.11"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2A",
"gene_hgnc_id": 29253,
"hgvs_c": "c.3145C>T",
"hgvs_p": "p.Arg1049*",
"transcript": "ENST00000951218.1",
"protein_id": "ENSP00000621277.1",
"transcript_support_level": null,
"aa_start": 1049,
"aa_end": null,
"aa_length": 1627,
"cds_start": 3145,
"cds_end": null,
"cds_length": 4884,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951218.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2A",
"gene_hgnc_id": 29253,
"hgvs_c": "c.3145C>T",
"hgvs_p": "p.Arg1049*",
"transcript": "NM_001080522.2",
"protein_id": "NP_001073991.2",
"transcript_support_level": null,
"aa_start": 1049,
"aa_end": null,
"aa_length": 1620,
"cds_start": 3145,
"cds_end": null,
"cds_length": 4863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001080522.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2A",
"gene_hgnc_id": 29253,
"hgvs_c": "c.3145C>T",
"hgvs_p": "p.Arg1049*",
"transcript": "ENST00000860661.1",
"protein_id": "ENSP00000530720.1",
"transcript_support_level": null,
"aa_start": 1049,
"aa_end": null,
"aa_length": 1620,
"cds_start": 3145,
"cds_end": null,
"cds_length": 4863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860661.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2A",
"gene_hgnc_id": 29253,
"hgvs_c": "c.3136C>T",
"hgvs_p": "p.Arg1046*",
"transcript": "ENST00000951219.1",
"protein_id": "ENSP00000621278.1",
"transcript_support_level": null,
"aa_start": 1046,
"aa_end": null,
"aa_length": 1617,
"cds_start": 3136,
"cds_end": null,
"cds_length": 4854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951219.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2A",
"gene_hgnc_id": 29253,
"hgvs_c": "c.3004C>T",
"hgvs_p": "p.Arg1002*",
"transcript": "ENST00000860662.1",
"protein_id": "ENSP00000530721.1",
"transcript_support_level": null,
"aa_start": 1002,
"aa_end": null,
"aa_length": 1573,
"cds_start": 3004,
"cds_end": null,
"cds_length": 4722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860662.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2A",
"gene_hgnc_id": 29253,
"hgvs_c": "c.2998C>T",
"hgvs_p": "p.Arg1000*",
"transcript": "NM_001378617.1",
"protein_id": "NP_001365546.1",
"transcript_support_level": null,
"aa_start": 1000,
"aa_end": null,
"aa_length": 1571,
"cds_start": 2998,
"cds_end": null,
"cds_length": 4716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378617.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2A",
"gene_hgnc_id": 29253,
"hgvs_c": "c.2998C>T",
"hgvs_p": "p.Arg1000*",
"transcript": "ENST00000506643.5",
"protein_id": "ENSP00000422931.2",
"transcript_support_level": 2,
"aa_start": 1000,
"aa_end": null,
"aa_length": 1571,
"cds_start": 2998,
"cds_end": null,
"cds_length": 4716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000506643.5"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2A",
"gene_hgnc_id": 29253,
"hgvs_c": "c.2998C>T",
"hgvs_p": "p.Arg1000*",
"transcript": "ENST00000674945.1",
"protein_id": "ENSP00000502333.1",
"transcript_support_level": null,
"aa_start": 1000,
"aa_end": null,
"aa_length": 1512,
"cds_start": 2998,
"cds_end": null,
"cds_length": 4539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674945.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2A",
"gene_hgnc_id": 29253,
"hgvs_c": "n.*151C>T",
"hgvs_p": null,
"transcript": "ENST00000650860.2",
"protein_id": "ENSP00000498775.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000650860.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2A",
"gene_hgnc_id": 29253,
"hgvs_c": "n.3956C>T",
"hgvs_p": null,
"transcript": "ENST00000675619.1",
"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": "ENST00000675619.1"
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2A",
"gene_hgnc_id": 29253,
"hgvs_c": "n.365C>T",
"hgvs_p": null,
"transcript": "ENST00000675768.1",
"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": "ENST00000675768.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2A",
"gene_hgnc_id": 29253,
"hgvs_c": "n.*151C>T",
"hgvs_p": null,
"transcript": "ENST00000676337.1",
"protein_id": "ENSP00000501728.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000676337.1"
},
{
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2A",
"gene_hgnc_id": 29253,
"hgvs_c": "n.3804C>T",
"hgvs_p": null,
"transcript": "ENST00000680586.1",
"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": "ENST00000680586.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2A",
"gene_hgnc_id": 29253,
"hgvs_c": "n.*151C>T",
"hgvs_p": null,
"transcript": "ENST00000650860.2",
"protein_id": "ENSP00000498775.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000650860.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2A",
"gene_hgnc_id": 29253,
"hgvs_c": "n.*151C>T",
"hgvs_p": null,
"transcript": "ENST00000676337.1",
"protein_id": "ENSP00000501728.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000676337.1"
},
{
"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": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2A",
"gene_hgnc_id": 29253,
"hgvs_c": "c.*131C>T",
"hgvs_p": null,
"transcript": "XM_011513872.4",
"protein_id": "XP_011512174.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1013,
"cds_start": null,
"cds_end": null,
"cds_length": 3042,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513872.4"
},
{
"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": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2A",
"gene_hgnc_id": 29253,
"hgvs_c": "c.*151C>T",
"hgvs_p": null,
"transcript": "XM_047416010.1",
"protein_id": "XP_047271966.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1012,
"cds_start": null,
"cds_end": null,
"cds_length": 3039,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416010.1"
},
{
"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": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000273133",
"gene_hgnc_id": 58738,
"hgvs_c": "n.*213G>A",
"hgvs_p": null,
"transcript": "ENST00000609724.1",
"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": "pseudogene",
"feature": "ENST00000609724.1"
},
{
"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": "LOC124900671",
"gene_hgnc_id": null,
"hgvs_c": "n.*213G>A",
"hgvs_p": null,
"transcript": "XR_007058061.1",
"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": "XR_007058061.1"
}
],
"gene_symbol": "CC2D2A",
"gene_hgnc_id": 29253,
"dbsnp": "rs386833750",
"frequency_reference_population": 0.000020470321,
"hom_count_reference_population": 0,
"allele_count_reference_population": 33,
"gnomad_exomes_af": 0.0000198637,
"gnomad_genomes_af": 0.0000262909,
"gnomad_exomes_ac": 29,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5899999737739563,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.14000000059604645,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.59,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 2.496,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.14,
"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": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_001080522.2",
"gene_symbol": "CC2D2A",
"hgnc_id": 29253,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3145C>T",
"hgvs_p": "p.Arg1049*"
},
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "XR_007058061.1",
"gene_symbol": "LOC124900671",
"hgnc_id": null,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*213G>A",
"hgvs_p": null
},
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000609724.1",
"gene_symbol": "ENSG00000273133",
"hgnc_id": 58738,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*213G>A",
"hgvs_p": null
}
],
"clinvar_disease": " digenic, type 6,COACH syndrome 2,Inborn genetic diseases,Joubert syndrome,Joubert syndrome 9,Joubert syndrome 9/15,Meckel syndrome,Meckel-Gruber syndrome,Retinitis pigmentosa 93,See cases,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:7",
"phenotype_combined": "COACH syndrome 2|Meckel-Gruber syndrome;Joubert syndrome|Joubert syndrome 9/15, digenic|not provided|Meckel syndrome, type 6;Retinitis pigmentosa 93;COACH syndrome 2;Joubert syndrome 9|See cases|Inborn genetic diseases|Meckel syndrome, type 6;COACH syndrome 2;Joubert syndrome 9",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}