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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: 17-8890812-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=8890812&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 8890812,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000447110.6",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R5",
"gene_hgnc_id": 30035,
"hgvs_c": "c.583A>G",
"hgvs_p": "p.Thr195Ala",
"transcript": "NM_001142633.3",
"protein_id": "NP_001136105.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 880,
"cds_start": 583,
"cds_end": null,
"cds_length": 2643,
"cdna_start": 708,
"cdna_end": null,
"cdna_length": 4491,
"mane_select": "ENST00000447110.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R5",
"gene_hgnc_id": 30035,
"hgvs_c": "c.583A>G",
"hgvs_p": "p.Thr195Ala",
"transcript": "ENST00000447110.6",
"protein_id": "ENSP00000392812.1",
"transcript_support_level": 5,
"aa_start": 195,
"aa_end": null,
"aa_length": 880,
"cds_start": 583,
"cds_end": null,
"cds_length": 2643,
"cdna_start": 708,
"cdna_end": null,
"cdna_length": 4491,
"mane_select": "NM_001142633.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R5",
"gene_hgnc_id": 30035,
"hgvs_c": "c.583A>G",
"hgvs_p": "p.Thr195Ala",
"transcript": "ENST00000581552.5",
"protein_id": "ENSP00000462433.1",
"transcript_support_level": 1,
"aa_start": 195,
"aa_end": null,
"aa_length": 880,
"cds_start": 583,
"cds_end": null,
"cds_length": 2643,
"cdna_start": 650,
"cdna_end": null,
"cdna_length": 3253,
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R5",
"gene_hgnc_id": 30035,
"hgvs_c": "n.616A>G",
"hgvs_p": null,
"transcript": "ENST00000580959.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 925,
"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": 18,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PIK3R5",
"gene_hgnc_id": 30035,
"hgvs_c": "c.-501-686A>G",
"hgvs_p": null,
"transcript": "ENST00000623421.3",
"protein_id": "ENSP00000485280.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 494,
"cds_start": -4,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 18,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PIK3R5",
"gene_hgnc_id": 30035,
"hgvs_c": "n.483-686A>G",
"hgvs_p": null,
"transcript": "ENST00000269300.8",
"protein_id": "ENSP00000269300.3",
"transcript_support_level": 1,
"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": 4317,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R5",
"gene_hgnc_id": 30035,
"hgvs_c": "c.583A>G",
"hgvs_p": "p.Thr195Ala",
"transcript": "NM_014308.4",
"protein_id": "NP_055123.2",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 880,
"cds_start": 583,
"cds_end": null,
"cds_length": 2643,
"cdna_start": 650,
"cdna_end": null,
"cdna_length": 4433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R5",
"gene_hgnc_id": 30035,
"hgvs_c": "c.583A>G",
"hgvs_p": "p.Thr195Ala",
"transcript": "NM_001388396.1",
"protein_id": "NP_001375325.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 879,
"cds_start": 583,
"cds_end": null,
"cds_length": 2640,
"cdna_start": 708,
"cdna_end": null,
"cdna_length": 4488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R5",
"gene_hgnc_id": 30035,
"hgvs_c": "c.583A>G",
"hgvs_p": "p.Thr195Ala",
"transcript": "ENST00000584803.1",
"protein_id": "ENSP00000462680.1",
"transcript_support_level": 5,
"aa_start": 195,
"aa_end": null,
"aa_length": 879,
"cds_start": 583,
"cds_end": null,
"cds_length": 2640,
"cdna_start": 596,
"cdna_end": null,
"cdna_length": 2653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R5",
"gene_hgnc_id": 30035,
"hgvs_c": "c.583A>G",
"hgvs_p": "p.Thr195Ala",
"transcript": "XM_047435709.1",
"protein_id": "XP_047291665.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 880,
"cds_start": 583,
"cds_end": null,
"cds_length": 2643,
"cdna_start": 1200,
"cdna_end": null,
"cdna_length": 4983,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R5",
"gene_hgnc_id": 30035,
"hgvs_c": "c.583A>G",
"hgvs_p": "p.Thr195Ala",
"transcript": "XM_047435710.1",
"protein_id": "XP_047291666.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 632,
"cds_start": 583,
"cds_end": null,
"cds_length": 1899,
"cdna_start": 708,
"cdna_end": null,
"cdna_length": 2108,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R5",
"gene_hgnc_id": 30035,
"hgvs_c": "c.583A>G",
"hgvs_p": "p.Thr195Ala",
"transcript": "XM_047435711.1",
"protein_id": "XP_047291667.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 631,
"cds_start": 583,
"cds_end": null,
"cds_length": 1896,
"cdna_start": 708,
"cdna_end": null,
"cdna_length": 2105,
"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": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R5",
"gene_hgnc_id": 30035,
"hgvs_c": "n.601A>G",
"hgvs_p": null,
"transcript": "ENST00000578457.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 1126,
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R5",
"gene_hgnc_id": 30035,
"hgvs_c": "n.708A>G",
"hgvs_p": null,
"transcript": "ENST00000578515.5",
"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": 2840,
"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": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R5",
"gene_hgnc_id": 30035,
"hgvs_c": "n.301A>G",
"hgvs_p": null,
"transcript": "ENST00000584456.5",
"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": 867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R5",
"gene_hgnc_id": 30035,
"hgvs_c": "c.-638A>G",
"hgvs_p": null,
"transcript": "NM_001251851.2",
"protein_id": "NP_001238780.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 494,
"cds_start": -4,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R5",
"gene_hgnc_id": 30035,
"hgvs_c": "c.-576A>G",
"hgvs_p": null,
"transcript": "NM_001251852.2",
"protein_id": "NP_001238781.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 494,
"cds_start": -4,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4375,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R5",
"gene_hgnc_id": 30035,
"hgvs_c": "c.-422A>G",
"hgvs_p": null,
"transcript": "NM_001251853.2",
"protein_id": "NP_001238782.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 494,
"cds_start": -4,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4337,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R5",
"gene_hgnc_id": 30035,
"hgvs_c": "c.-576A>G",
"hgvs_p": null,
"transcript": "NM_001388397.1",
"protein_id": "NP_001375326.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 494,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R5",
"gene_hgnc_id": 30035,
"hgvs_c": "c.-576A>G",
"hgvs_p": null,
"transcript": "NM_001388398.1",
"protein_id": "NP_001375327.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 494,
"cds_start": -4,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
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"cdna_length": 4568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R5",
"gene_hgnc_id": 30035,
"hgvs_c": "c.-576A>G",
"hgvs_p": null,
"transcript": "NM_001388399.1",
"protein_id": "NP_001375328.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 494,
"cds_start": -4,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4670,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R5",
"gene_hgnc_id": 30035,
"hgvs_c": "c.-422A>G",
"hgvs_p": null,
"transcript": "ENST00000611902.4",
"protein_id": "ENSP00000477795.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 494,
"cds_start": -4,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4339,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIK3R5",
"gene_hgnc_id": 30035,
"hgvs_c": "c.-576A>G",
"hgvs_p": null,
"transcript": "ENST00000616147.4",
"protein_id": "ENSP00000484211.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 494,
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},
{
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"canonical": false,
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"strand": false,
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],
"exon_rank": 7,
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},
{
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],
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},
{
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],
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},
{
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"intron_variant"
],
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"gene_symbol": "LOC124903922",
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},
{
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"strand": true,
"consequences": [
"downstream_gene_variant"
],
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"gene_symbol": "PIK3R5",
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"feature": null
}
],
"gene_symbol": "PIK3R5",
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"dbsnp": "rs797045887",
"frequency_reference_population": 6.8449833e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84498e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5592331290245056,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.349,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0791,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.19,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.024,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000447110.6",
"gene_symbol": "PIK3R5",
"hgnc_id": 30035,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.583A>G",
"hgvs_p": "p.Thr195Ala"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000744212.1",
"gene_symbol": "ENSG00000297004",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.183-976T>C",
"hgvs_p": null
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "XR_007065613.1",
"gene_symbol": "LOC124903922",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.80-976T>C",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}