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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: 7-33970336-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=33970336&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 33970336,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000649409.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPER",
"gene_hgnc_id": 24154,
"hgvs_c": "c.410T>A",
"hgvs_p": "p.Val137Asp",
"transcript": "NM_001365308.1",
"protein_id": "NP_001352237.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 685,
"cds_start": 410,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 485,
"cdna_end": null,
"cdna_length": 5287,
"mane_select": "ENST00000649409.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPER",
"gene_hgnc_id": 24154,
"hgvs_c": "c.410T>A",
"hgvs_p": "p.Val137Asp",
"transcript": "ENST00000649409.2",
"protein_id": "ENSP00000497748.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 685,
"cds_start": 410,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 485,
"cdna_end": null,
"cdna_length": 5287,
"mane_select": "NM_001365308.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPER",
"gene_hgnc_id": 24154,
"hgvs_c": "c.410T>A",
"hgvs_p": "p.Val137Asp",
"transcript": "ENST00000297161.6",
"protein_id": "ENSP00000297161.2",
"transcript_support_level": 1,
"aa_start": 137,
"aa_end": null,
"aa_length": 685,
"cds_start": 410,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 784,
"cdna_end": null,
"cdna_length": 5031,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPER",
"gene_hgnc_id": 24154,
"hgvs_c": "c.-145T>A",
"hgvs_p": null,
"transcript": "XM_047419939.1",
"protein_id": "XP_047275895.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 467,
"cds_start": -4,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPER",
"gene_hgnc_id": 24154,
"hgvs_c": "c.410T>A",
"hgvs_p": "p.Val137Asp",
"transcript": "NM_133468.5",
"protein_id": "NP_597725.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 685,
"cds_start": 410,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 780,
"cdna_end": null,
"cdna_length": 5582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPER",
"gene_hgnc_id": 24154,
"hgvs_c": "c.410T>A",
"hgvs_p": "p.Val137Asp",
"transcript": "ENST00000650544.1",
"protein_id": "ENSP00000497982.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 650,
"cds_start": 410,
"cds_end": null,
"cds_length": 1953,
"cdna_start": 485,
"cdna_end": null,
"cdna_length": 3213,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPER",
"gene_hgnc_id": 24154,
"hgvs_c": "c.410T>A",
"hgvs_p": "p.Val137Asp",
"transcript": "ENST00000648445.1",
"protein_id": "ENSP00000498008.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 627,
"cds_start": 410,
"cds_end": null,
"cds_length": 1884,
"cdna_start": 440,
"cdna_end": null,
"cdna_length": 3106,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPER",
"gene_hgnc_id": 24154,
"hgvs_c": "c.410T>A",
"hgvs_p": "p.Val137Asp",
"transcript": "ENST00000648392.1",
"protein_id": "ENSP00000497488.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 592,
"cds_start": 410,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 485,
"cdna_end": null,
"cdna_length": 3106,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPER",
"gene_hgnc_id": 24154,
"hgvs_c": "c.410T>A",
"hgvs_p": "p.Val137Asp",
"transcript": "NM_001410872.1",
"protein_id": "NP_001397801.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 575,
"cds_start": 410,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 485,
"cdna_end": null,
"cdna_length": 4957,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPER",
"gene_hgnc_id": 24154,
"hgvs_c": "c.410T>A",
"hgvs_p": "p.Val137Asp",
"transcript": "ENST00000648848.1",
"protein_id": "ENSP00000497963.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 575,
"cds_start": 410,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 479,
"cdna_end": null,
"cdna_length": 2930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPER",
"gene_hgnc_id": 24154,
"hgvs_c": "c.212T>A",
"hgvs_p": "p.Val71Asp",
"transcript": "ENST00000648982.1",
"protein_id": "ENSP00000498182.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 549,
"cds_start": 212,
"cds_end": null,
"cds_length": 1650,
"cdna_start": 213,
"cdna_end": null,
"cdna_length": 4734,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPER",
"gene_hgnc_id": 24154,
"hgvs_c": "c.206T>A",
"hgvs_p": "p.Val69Asp",
"transcript": "ENST00000648856.1",
"protein_id": "ENSP00000496854.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 517,
"cds_start": 206,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 414,
"cdna_end": null,
"cdna_length": 3133,
"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": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPER",
"gene_hgnc_id": 24154,
"hgvs_c": "n.412T>A",
"hgvs_p": null,
"transcript": "ENST00000436222.6",
"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": 647,
"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": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPER",
"gene_hgnc_id": 24154,
"hgvs_c": "n.310T>A",
"hgvs_p": null,
"transcript": "ENST00000647656.1",
"protein_id": "ENSP00000497346.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3005,
"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": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPER",
"gene_hgnc_id": 24154,
"hgvs_c": "n.410T>A",
"hgvs_p": null,
"transcript": "ENST00000648229.1",
"protein_id": "ENSP00000498201.1",
"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": 3100,
"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": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPER",
"gene_hgnc_id": 24154,
"hgvs_c": "n.410T>A",
"hgvs_p": null,
"transcript": "ENST00000648305.1",
"protein_id": "ENSP00000497365.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2799,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"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": "BMPER",
"gene_hgnc_id": 24154,
"hgvs_c": "n.310T>A",
"hgvs_p": null,
"transcript": "ENST00000648618.1",
"protein_id": "ENSP00000496953.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2675,
"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": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPER",
"gene_hgnc_id": 24154,
"hgvs_c": "n.410T>A",
"hgvs_p": null,
"transcript": "ENST00000649002.1",
"protein_id": "ENSP00000496926.1",
"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": 3079,
"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": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPER",
"gene_hgnc_id": 24154,
"hgvs_c": "n.341T>A",
"hgvs_p": null,
"transcript": "ENST00000649232.1",
"protein_id": "ENSP00000497721.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"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": "BMPER",
"gene_hgnc_id": 24154,
"hgvs_c": "n.206T>A",
"hgvs_p": null,
"transcript": "ENST00000649771.1",
"protein_id": "ENSP00000497314.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPER",
"gene_hgnc_id": 24154,
"hgvs_c": "n.206T>A",
"hgvs_p": null,
"transcript": "ENST00000649985.1",
"protein_id": "ENSP00000497578.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 3239,
"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": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPER",
"gene_hgnc_id": 24154,
"hgvs_c": "n.106T>A",
"hgvs_p": null,
"transcript": "ENST00000650202.1",
"protein_id": "ENSP00000497972.1",
"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": 3098,
"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": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPER",
"gene_hgnc_id": 24154,
"hgvs_c": "n.310T>A",
"hgvs_p": null,
"transcript": "ENST00000650206.1",
"protein_id": "ENSP00000497637.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
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"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
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"exon_count": 13,
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"transcript": "ENST00000650350.1",
"protein_id": "ENSP00000497933.1",
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"aa_end": null,
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"feature": null
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
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"exon_count": 12,
"intron_rank": null,
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"gene_symbol": "BMPER",
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"hgvs_c": "n.206T>A",
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"transcript": "ENST00000650533.1",
"protein_id": "ENSP00000497081.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPER",
"gene_hgnc_id": 24154,
"hgvs_c": "c.-145T>A",
"hgvs_p": null,
"transcript": "XM_047419939.1",
"protein_id": "XP_047275895.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 467,
"cds_start": -4,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "BMPER",
"gene_hgnc_id": 24154,
"dbsnp": "rs1554300601",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7964075803756714,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.571,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9442,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.19,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.505,
"phylop100way_prediction": "Uncertain_significance",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3,PP5",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000649409.2",
"gene_symbol": "BMPER",
"hgnc_id": 24154,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.410T>A",
"hgvs_p": "p.Val137Asp"
}
],
"clinvar_disease": "Diaphanospondylodysostosis",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Diaphanospondylodysostosis",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}