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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: 7-100868160-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=100868160&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 100868160,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_003302.3",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP6",
"gene_hgnc_id": 12311,
"hgvs_c": "c.290T>C",
"hgvs_p": "p.Ile97Thr",
"transcript": "NM_003302.3",
"protein_id": "NP_003293.2",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 476,
"cds_start": 290,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 401,
"cdna_end": null,
"cdna_length": 1693,
"mane_select": "ENST00000200457.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003302.3"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP6",
"gene_hgnc_id": 12311,
"hgvs_c": "c.290T>C",
"hgvs_p": "p.Ile97Thr",
"transcript": "ENST00000200457.9",
"protein_id": "ENSP00000200457.4",
"transcript_support_level": 1,
"aa_start": 97,
"aa_end": null,
"aa_length": 476,
"cds_start": 290,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 401,
"cdna_end": null,
"cdna_length": 1693,
"mane_select": "NM_003302.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000200457.9"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP6",
"gene_hgnc_id": 12311,
"hgvs_c": "c.162T>C",
"hgvs_p": "p.Asp54Asp",
"transcript": "ENST00000619988.4",
"protein_id": "ENSP00000479865.1",
"transcript_support_level": 1,
"aa_start": 54,
"aa_end": null,
"aa_length": 80,
"cds_start": 162,
"cds_end": null,
"cds_length": 243,
"cdna_start": 162,
"cdna_end": null,
"cdna_length": 1303,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000619988.4"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP6",
"gene_hgnc_id": 12311,
"hgvs_c": "n.240T>C",
"hgvs_p": null,
"transcript": "ENST00000417475.5",
"protein_id": "ENSP00000413817.1",
"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": 992,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000417475.5"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP6",
"gene_hgnc_id": 12311,
"hgvs_c": "c.290T>C",
"hgvs_p": "p.Ile97Thr",
"transcript": "ENST00000893598.1",
"protein_id": "ENSP00000563657.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 513,
"cds_start": 290,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 389,
"cdna_end": null,
"cdna_length": 1792,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893598.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP6",
"gene_hgnc_id": 12311,
"hgvs_c": "c.290T>C",
"hgvs_p": "p.Ile97Thr",
"transcript": "ENST00000893599.1",
"protein_id": "ENSP00000563658.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 475,
"cds_start": 290,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 382,
"cdna_end": null,
"cdna_length": 1665,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893599.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP6",
"gene_hgnc_id": 12311,
"hgvs_c": "c.290T>C",
"hgvs_p": "p.Ile97Thr",
"transcript": "ENST00000936779.1",
"protein_id": "ENSP00000606838.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 475,
"cds_start": 290,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 454,
"cdna_end": null,
"cdna_length": 1805,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936779.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP6",
"gene_hgnc_id": 12311,
"hgvs_c": "c.227T>C",
"hgvs_p": "p.Ile76Thr",
"transcript": "ENST00000893593.1",
"protein_id": "ENSP00000563652.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 455,
"cds_start": 227,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 364,
"cdna_end": null,
"cdna_length": 1656,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893593.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP6",
"gene_hgnc_id": 12311,
"hgvs_c": "c.149T>C",
"hgvs_p": "p.Ile50Thr",
"transcript": "ENST00000893595.1",
"protein_id": "ENSP00000563654.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 429,
"cds_start": 149,
"cds_end": null,
"cds_length": 1290,
"cdna_start": 260,
"cdna_end": null,
"cdna_length": 1550,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893595.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP6",
"gene_hgnc_id": 12311,
"hgvs_c": "c.290T>C",
"hgvs_p": "p.Ile97Thr",
"transcript": "ENST00000893596.1",
"protein_id": "ENSP00000563655.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 407,
"cds_start": 290,
"cds_end": null,
"cds_length": 1224,
"cdna_start": 401,
"cdna_end": null,
"cdna_length": 1483,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893596.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP6",
"gene_hgnc_id": 12311,
"hgvs_c": "c.290T>C",
"hgvs_p": "p.Ile97Thr",
"transcript": "ENST00000893597.1",
"protein_id": "ENSP00000563656.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 388,
"cds_start": 290,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 401,
"cdna_end": null,
"cdna_length": 1423,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893597.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP6",
"gene_hgnc_id": 12311,
"hgvs_c": "c.290T>C",
"hgvs_p": "p.Ile97Thr",
"transcript": "ENST00000966331.1",
"protein_id": "ENSP00000636390.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 352,
"cds_start": 290,
"cds_end": null,
"cds_length": 1059,
"cdna_start": 451,
"cdna_end": null,
"cdna_length": 1365,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966331.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP6",
"gene_hgnc_id": 12311,
"hgvs_c": "c.240T>C",
"hgvs_p": "p.Asp80Asp",
"transcript": "ENST00000893591.1",
"protein_id": "ENSP00000563650.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 377,
"cds_start": 240,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 612,
"cdna_end": null,
"cdna_length": 1727,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893591.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP6",
"gene_hgnc_id": 12311,
"hgvs_c": "c.162T>C",
"hgvs_p": "p.Asp54Asp",
"transcript": "ENST00000893592.1",
"protein_id": "ENSP00000563651.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 351,
"cds_start": 162,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 323,
"cdna_end": null,
"cdna_length": 1373,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893592.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TRIP6",
"gene_hgnc_id": 12311,
"hgvs_c": "c.237+172T>C",
"hgvs_p": null,
"transcript": "ENST00000936780.1",
"protein_id": "ENSP00000606839.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 310,
"cds_start": null,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1176,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936780.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TRIP6",
"gene_hgnc_id": 12311,
"hgvs_c": "c.109+554T>C",
"hgvs_p": null,
"transcript": "ENST00000893594.1",
"protein_id": "ENSP00000563653.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 309,
"cds_start": null,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1192,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893594.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP6",
"gene_hgnc_id": 12311,
"hgvs_c": "n.162T>C",
"hgvs_p": null,
"transcript": "ENST00000437505.5",
"protein_id": "ENSP00000410736.1",
"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": 875,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000437505.5"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP6",
"gene_hgnc_id": 12311,
"hgvs_c": "n.349T>C",
"hgvs_p": null,
"transcript": "ENST00000476870.5",
"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": 1750,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000476870.5"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIP6",
"gene_hgnc_id": 12311,
"hgvs_c": "n.-136T>C",
"hgvs_p": null,
"transcript": "ENST00000463125.1",
"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": 835,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000463125.1"
},
{
"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": "TRIP6",
"gene_hgnc_id": 12311,
"hgvs_c": "n.*19T>C",
"hgvs_p": null,
"transcript": "ENST00000496260.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 451,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000496260.1"
},
{
"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": "MIR6875",
"gene_hgnc_id": 50015,
"hgvs_c": "n.*53T>C",
"hgvs_p": null,
"transcript": "ENST00000617506.1",
"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": 72,
"mane_select": null,
"mane_plus": null,
"biotype": "miRNA",
"feature": "ENST00000617506.1"
},
{
"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": "MIR6875",
"gene_hgnc_id": 50015,
"hgvs_c": "n.*53T>C",
"hgvs_p": null,
"transcript": "NR_106935.1",
"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": 72,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_106935.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": null,
"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": "MIR6875",
"gene_hgnc_id": 50015,
"hgvs_c": "n.*99T>C",
"hgvs_p": null,
"transcript": "unassigned_transcript_1288",
"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": 21,
"mane_select": null,
"mane_plus": null,
"biotype": "miRNA",
"feature": "unassigned_transcript_1288"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": null,
"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": "MIR6875",
"gene_hgnc_id": 50015,
"hgvs_c": "n.*59T>C",
"hgvs_p": null,
"transcript": "unassigned_transcript_1289",
"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": 22,
"mane_select": null,
"mane_plus": null,
"biotype": "miRNA",
"feature": "unassigned_transcript_1289"
}
],
"gene_symbol": "TRIP6",
"gene_hgnc_id": 12311,
"dbsnp": "rs368522522",
"frequency_reference_population": 0.00004778584,
"hom_count_reference_population": 0,
"allele_count_reference_population": 77,
"gnomad_exomes_af": 0.0000274103,
"gnomad_genomes_af": 0.000243344,
"gnomad_exomes_ac": 40,
"gnomad_genomes_ac": 37,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.21372634172439575,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.206,
"revel_prediction": "Benign",
"alphamissense_score": 0.3434,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.12,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.474,
"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": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_003302.3",
"gene_symbol": "TRIP6",
"hgnc_id": 12311,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.290T>C",
"hgvs_p": "p.Ile97Thr"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NR_106935.1",
"gene_symbol": "MIR6875",
"hgnc_id": 50015,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*53T>C",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}