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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: 7-102466011-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=102466011&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 102466011,
"ref": "A",
"alt": "T",
"effect": "5_prime_UTR_premature_start_codon_gain_variant",
"transcript": "NM_001317721.2",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRWD1",
"gene_hgnc_id": 21769,
"hgvs_c": "c.275A>T",
"hgvs_p": "p.Lys92Met",
"transcript": "NM_152892.3",
"protein_id": "NP_690852.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 647,
"cds_start": 275,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 372,
"cdna_end": null,
"cdna_length": 2160,
"mane_select": "ENST00000292616.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152892.3"
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRWD1",
"gene_hgnc_id": 21769,
"hgvs_c": "c.275A>T",
"hgvs_p": "p.Lys92Met",
"transcript": "ENST00000292616.10",
"protein_id": "ENSP00000292616.5",
"transcript_support_level": 1,
"aa_start": 92,
"aa_end": null,
"aa_length": 647,
"cds_start": 275,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 372,
"cdna_end": null,
"cdna_length": 2160,
"mane_select": "NM_152892.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000292616.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRWD1",
"gene_hgnc_id": 21769,
"hgvs_c": "c.-182A>T",
"hgvs_p": null,
"transcript": "NM_001317721.2",
"protein_id": "NP_001304650.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 495,
"cds_start": null,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2178,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317721.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRWD1",
"gene_hgnc_id": 21769,
"hgvs_c": "c.-182A>T",
"hgvs_p": null,
"transcript": "ENST00000463739.5",
"protein_id": "ENSP00000420650.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 153,
"cds_start": null,
"cds_end": null,
"cds_length": 463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1062,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000463739.5"
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRWD1",
"gene_hgnc_id": 21769,
"hgvs_c": "c.275A>T",
"hgvs_p": "p.Lys92Met",
"transcript": "ENST00000896262.1",
"protein_id": "ENSP00000566321.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 664,
"cds_start": 275,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 356,
"cdna_end": null,
"cdna_length": 2194,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896262.1"
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRWD1",
"gene_hgnc_id": 21769,
"hgvs_c": "c.275A>T",
"hgvs_p": "p.Lys92Met",
"transcript": "ENST00000922655.1",
"protein_id": "ENSP00000592714.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 646,
"cds_start": 275,
"cds_end": null,
"cds_length": 1941,
"cdna_start": 417,
"cdna_end": null,
"cdna_length": 2541,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922655.1"
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRWD1",
"gene_hgnc_id": 21769,
"hgvs_c": "c.275A>T",
"hgvs_p": "p.Lys92Met",
"transcript": "ENST00000896258.1",
"protein_id": "ENSP00000566317.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 636,
"cds_start": 275,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 410,
"cdna_end": null,
"cdna_length": 2162,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896258.1"
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRWD1",
"gene_hgnc_id": 21769,
"hgvs_c": "c.275A>T",
"hgvs_p": "p.Lys92Met",
"transcript": "ENST00000896260.1",
"protein_id": "ENSP00000566319.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 632,
"cds_start": 275,
"cds_end": null,
"cds_length": 1899,
"cdna_start": 385,
"cdna_end": null,
"cdna_length": 2128,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896260.1"
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRWD1",
"gene_hgnc_id": 21769,
"hgvs_c": "c.275A>T",
"hgvs_p": "p.Lys92Met",
"transcript": "ENST00000896261.1",
"protein_id": "ENSP00000566320.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 612,
"cds_start": 275,
"cds_end": null,
"cds_length": 1839,
"cdna_start": 383,
"cdna_end": null,
"cdna_length": 2061,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896261.1"
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRWD1",
"gene_hgnc_id": 21769,
"hgvs_c": "c.275A>T",
"hgvs_p": "p.Lys92Met",
"transcript": "ENST00000896259.1",
"protein_id": "ENSP00000566318.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 600,
"cds_start": 275,
"cds_end": null,
"cds_length": 1803,
"cdna_start": 401,
"cdna_end": null,
"cdna_length": 2045,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896259.1"
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRWD1",
"gene_hgnc_id": 21769,
"hgvs_c": "c.275A>T",
"hgvs_p": "p.Lys92Met",
"transcript": "ENST00000922656.1",
"protein_id": "ENSP00000592715.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 595,
"cds_start": 275,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 416,
"cdna_end": null,
"cdna_length": 2048,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922656.1"
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRWD1",
"gene_hgnc_id": 21769,
"hgvs_c": "c.275A>T",
"hgvs_p": "p.Lys92Met",
"transcript": "ENST00000896263.1",
"protein_id": "ENSP00000566322.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 565,
"cds_start": 275,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 356,
"cdna_end": null,
"cdna_length": 1895,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896263.1"
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRWD1",
"gene_hgnc_id": 21769,
"hgvs_c": "c.275A>T",
"hgvs_p": "p.Lys92Met",
"transcript": "ENST00000965088.1",
"protein_id": "ENSP00000635147.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 558,
"cds_start": 275,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 356,
"cdna_end": null,
"cdna_length": 1871,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965088.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRWD1",
"gene_hgnc_id": 21769,
"hgvs_c": "c.-182A>T",
"hgvs_p": null,
"transcript": "NM_001317721.2",
"protein_id": "NP_001304650.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 495,
"cds_start": null,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2178,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317721.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRWD1",
"gene_hgnc_id": 21769,
"hgvs_c": "c.-182A>T",
"hgvs_p": null,
"transcript": "ENST00000463739.5",
"protein_id": "ENSP00000420650.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 153,
"cds_start": null,
"cds_end": null,
"cds_length": 463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1062,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000463739.5"
},
{
"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": "LRWD1",
"gene_hgnc_id": 21769,
"hgvs_c": "n.*233A>T",
"hgvs_p": null,
"transcript": "ENST00000464107.5",
"protein_id": "ENSP00000418204.1",
"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": 646,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000464107.5"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRWD1",
"gene_hgnc_id": 21769,
"hgvs_c": "n.351A>T",
"hgvs_p": null,
"transcript": "ENST00000473880.5",
"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": 5491,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000473880.5"
},
{
"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": "LRWD1",
"gene_hgnc_id": 21769,
"hgvs_c": "n.*422A>T",
"hgvs_p": null,
"transcript": "ENST00000476270.1",
"protein_id": "ENSP00000417913.1",
"transcript_support_level": 5,
"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": 703,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000476270.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRWD1",
"gene_hgnc_id": 21769,
"hgvs_c": "n.203A>T",
"hgvs_p": null,
"transcript": "ENST00000485808.5",
"protein_id": "ENSP00000420729.1",
"transcript_support_level": 5,
"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": 908,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000485808.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRWD1",
"gene_hgnc_id": 21769,
"hgvs_c": "n.*233A>T",
"hgvs_p": null,
"transcript": "ENST00000464107.5",
"protein_id": "ENSP00000418204.1",
"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": 646,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000464107.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRWD1",
"gene_hgnc_id": 21769,
"hgvs_c": "n.*422A>T",
"hgvs_p": null,
"transcript": "ENST00000476270.1",
"protein_id": "ENSP00000417913.1",
"transcript_support_level": 5,
"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": 703,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000476270.1"
},
{
"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": "MIR5090",
"gene_hgnc_id": 43547,
"hgvs_c": "n.*185A>T",
"hgvs_p": null,
"transcript": "ENST00000582533.1",
"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": 85,
"mane_select": null,
"mane_plus": null,
"biotype": "miRNA",
"feature": "ENST00000582533.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
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"downstream_gene_variant"
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"exon_rank": null,
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"exon_count": 1,
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"gene_symbol": "MIR5090",
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"transcript": "NR_049813.1",
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"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_049813.1"
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{
"aa_ref": null,
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"protein_coding": false,
"strand": true,
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"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 1,
"intron_rank": null,
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"gene_symbol": "MIR5090",
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"hgvs_c": "n.*237A>T",
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"transcript": "unassigned_transcript_1294",
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"cds_end": null,
"cds_length": null,
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"cdna_length": 23,
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"biotype": "miRNA",
"feature": "unassigned_transcript_1294"
}
],
"gene_symbol": "LRWD1",
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"dbsnp": "rs753792771",
"frequency_reference_population": 6.841237e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84124e-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": 0.12378230690956116,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.096,
"revel_prediction": "Benign",
"alphamissense_score": 0.1055,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.239,
"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": 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_001317721.2",
"gene_symbol": "LRWD1",
"hgnc_id": 21769,
"effects": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.-182A>T",
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},
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NR_049813.1",
"gene_symbol": "MIR5090",
"hgnc_id": 43547,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*185A>T",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}