← 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: 9-32480253-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=32480253&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 32480253,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000379883.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIGI",
"gene_hgnc_id": 19102,
"hgvs_c": "c.1740T>A",
"hgvs_p": "p.Asp580Glu",
"transcript": "NM_014314.4",
"protein_id": "NP_055129.2",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 925,
"cds_start": 1740,
"cds_end": null,
"cds_length": 2778,
"cdna_start": 1770,
"cdna_end": null,
"cdna_length": 4628,
"mane_select": "ENST00000379883.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIGI",
"gene_hgnc_id": 19102,
"hgvs_c": "c.1740T>A",
"hgvs_p": "p.Asp580Glu",
"transcript": "ENST00000379883.3",
"protein_id": "ENSP00000369213.2",
"transcript_support_level": 1,
"aa_start": 580,
"aa_end": null,
"aa_length": 925,
"cds_start": 1740,
"cds_end": null,
"cds_length": 2778,
"cdna_start": 1770,
"cdna_end": null,
"cdna_length": 4628,
"mane_select": "NM_014314.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288684",
"gene_hgnc_id": null,
"hgvs_c": "c.1590T>A",
"hgvs_p": "p.Asp530Glu",
"transcript": "ENST00000681750.1",
"protein_id": "ENSP00000506413.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 875,
"cds_start": 1590,
"cds_end": null,
"cds_length": 2628,
"cdna_start": 2069,
"cdna_end": null,
"cdna_length": 4906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIGI",
"gene_hgnc_id": 19102,
"hgvs_c": "c.1737T>A",
"hgvs_p": "p.Asp579Glu",
"transcript": "ENST00000715271.1",
"protein_id": "ENSP00000520440.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 924,
"cds_start": 1737,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 1919,
"cdna_end": null,
"cdna_length": 4777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIGI",
"gene_hgnc_id": 19102,
"hgvs_c": "c.1734T>A",
"hgvs_p": "p.Asp578Glu",
"transcript": "NM_001385907.1",
"protein_id": "NP_001372836.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 923,
"cds_start": 1734,
"cds_end": null,
"cds_length": 2772,
"cdna_start": 1764,
"cdna_end": null,
"cdna_length": 4622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIGI",
"gene_hgnc_id": 19102,
"hgvs_c": "c.1734T>A",
"hgvs_p": "p.Asp578Glu",
"transcript": "ENST00000715270.1",
"protein_id": "ENSP00000520439.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 923,
"cds_start": 1734,
"cds_end": null,
"cds_length": 2772,
"cdna_start": 1916,
"cdna_end": null,
"cdna_length": 4774,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIGI",
"gene_hgnc_id": 19102,
"hgvs_c": "c.1725T>A",
"hgvs_p": "p.Asp575Glu",
"transcript": "NM_001385913.1",
"protein_id": "NP_001372842.1",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
"aa_length": 920,
"cds_start": 1725,
"cds_end": null,
"cds_length": 2763,
"cdna_start": 1755,
"cdna_end": null,
"cdna_length": 4613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIGI",
"gene_hgnc_id": 19102,
"hgvs_c": "c.1605T>A",
"hgvs_p": "p.Asp535Glu",
"transcript": "ENST00000379868.6",
"protein_id": "ENSP00000369197.2",
"transcript_support_level": 5,
"aa_start": 535,
"aa_end": null,
"aa_length": 880,
"cds_start": 1605,
"cds_end": null,
"cds_length": 2643,
"cdna_start": 1635,
"cdna_end": null,
"cdna_length": 4493,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIGI",
"gene_hgnc_id": 19102,
"hgvs_c": "c.1740T>A",
"hgvs_p": "p.Asp580Glu",
"transcript": "NM_001385909.1",
"protein_id": "NP_001372838.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 868,
"cds_start": 1740,
"cds_end": null,
"cds_length": 2607,
"cdna_start": 1770,
"cdna_end": null,
"cdna_length": 4457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIGI",
"gene_hgnc_id": 19102,
"hgvs_c": "c.1527T>A",
"hgvs_p": "p.Asp509Glu",
"transcript": "ENST00000679665.1",
"protein_id": "ENSP00000504921.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 854,
"cds_start": 1527,
"cds_end": null,
"cds_length": 2565,
"cdna_start": 2103,
"cdna_end": null,
"cdna_length": 4961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIGI",
"gene_hgnc_id": 19102,
"hgvs_c": "c.1299T>A",
"hgvs_p": "p.Asp433Glu",
"transcript": "NM_001385910.1",
"protein_id": "NP_001372839.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 778,
"cds_start": 1299,
"cds_end": null,
"cds_length": 2337,
"cdna_start": 1783,
"cdna_end": null,
"cdna_length": 4641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIGI",
"gene_hgnc_id": 19102,
"hgvs_c": "c.1296T>A",
"hgvs_p": "p.Asp432Glu",
"transcript": "NM_001385914.1",
"protein_id": "NP_001372843.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 777,
"cds_start": 1296,
"cds_end": null,
"cds_length": 2334,
"cdna_start": 1780,
"cdna_end": null,
"cdna_length": 4638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIGI",
"gene_hgnc_id": 19102,
"hgvs_c": "c.1131T>A",
"hgvs_p": "p.Asp377Glu",
"transcript": "NM_001385912.1",
"protein_id": "NP_001372841.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 722,
"cds_start": 1131,
"cds_end": null,
"cds_length": 2169,
"cdna_start": 1622,
"cdna_end": null,
"cdna_length": 4480,
"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": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIGI",
"gene_hgnc_id": 19102,
"hgvs_c": "n.*1163T>A",
"hgvs_p": null,
"transcript": "ENST00000679771.1",
"protein_id": "ENSP00000505015.1",
"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": 4492,
"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": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288684",
"gene_hgnc_id": null,
"hgvs_c": "n.*1508T>A",
"hgvs_p": null,
"transcript": "ENST00000680198.1",
"protein_id": "ENSP00000505143.1",
"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": 4780,
"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": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIGI",
"gene_hgnc_id": 19102,
"hgvs_c": "n.*1508T>A",
"hgvs_p": null,
"transcript": "ENST00000680733.1",
"protein_id": "ENSP00000504892.1",
"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": 3617,
"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": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIGI",
"gene_hgnc_id": 19102,
"hgvs_c": "n.1272T>A",
"hgvs_p": null,
"transcript": "ENST00000681352.1",
"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": 3120,
"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": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIGI",
"gene_hgnc_id": 19102,
"hgvs_c": "n.*276T>A",
"hgvs_p": null,
"transcript": "ENST00000715269.1",
"protein_id": "ENSP00000520438.1",
"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": 4745,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC124902138",
"gene_hgnc_id": null,
"hgvs_c": "n.656A>T",
"hgvs_p": null,
"transcript": "XR_007061449.1",
"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": 5546,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC124902138",
"gene_hgnc_id": null,
"hgvs_c": "n.119A>T",
"hgvs_p": null,
"transcript": "XR_007061450.1",
"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": 5009,
"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": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIGI",
"gene_hgnc_id": 19102,
"hgvs_c": "n.*1163T>A",
"hgvs_p": null,
"transcript": "ENST00000679771.1",
"protein_id": "ENSP00000505015.1",
"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": 4492,
"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": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288684",
"gene_hgnc_id": null,
"hgvs_c": "n.*1508T>A",
"hgvs_p": null,
"transcript": "ENST00000680198.1",
"protein_id": "ENSP00000505143.1",
"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": 4780,
"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": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIGI",
"gene_hgnc_id": 19102,
"hgvs_c": "n.*1508T>A",
"hgvs_p": null,
"transcript": "ENST00000680733.1",
"protein_id": "ENSP00000504892.1",
"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": 3617,
"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": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIGI",
"gene_hgnc_id": 19102,
"hgvs_c": "n.*276T>A",
"hgvs_p": null,
"transcript": "ENST00000715269.1",
"protein_id": "ENSP00000520438.1",
"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": 4745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RIGI",
"gene_hgnc_id": 19102,
"hgvs_c": "c.424-7188T>A",
"hgvs_p": null,
"transcript": "ENST00000679859.1",
"protein_id": "ENSP00000505702.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 425,
"cds_start": -4,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2118,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RIGI",
"gene_hgnc_id": 19102,
"dbsnp": "rs17217280",
"frequency_reference_population": 0.12610382,
"hom_count_reference_population": 14151,
"allele_count_reference_population": 203009,
"gnomad_exomes_af": 0.128586,
"gnomad_genomes_af": 0.102343,
"gnomad_exomes_ac": 187427,
"gnomad_genomes_ac": 15582,
"gnomad_exomes_homalt": 13152,
"gnomad_genomes_homalt": 999,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.001556396484375,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.09,
"revel_prediction": "Benign",
"alphamissense_score": 0.4686,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.006,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000379883.3",
"gene_symbol": "RIGI",
"hgnc_id": 19102,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1740T>A",
"hgvs_p": "p.Asp580Glu"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000681750.1",
"gene_symbol": "ENSG00000288684",
"hgnc_id": null,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1590T>A",
"hgvs_p": "p.Asp530Glu"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "XR_007061449.1",
"gene_symbol": "LOC124902138",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.656A>T",
"hgvs_p": null
}
],
"clinvar_disease": "Singleton-Merten syndrome 2,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "Singleton-Merten syndrome 2|not provided|not specified",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}