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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: 16-89955199-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=89955199&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 89955199,
"ref": "C",
"alt": "T",
"effect": "5_prime_UTR_premature_start_codon_gain_variant",
"transcript": "NM_001242817.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEF8",
"gene_hgnc_id": 25969,
"hgvs_c": "c.155C>T",
"hgvs_p": "p.Pro52Leu",
"transcript": "NM_001242818.2",
"protein_id": "NP_001229747.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 451,
"cds_start": 155,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 322,
"cdna_end": null,
"cdna_length": 3620,
"mane_select": "ENST00000563594.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242818.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEF8",
"gene_hgnc_id": 25969,
"hgvs_c": "c.155C>T",
"hgvs_p": "p.Pro52Leu",
"transcript": "ENST00000563594.6",
"protein_id": "ENSP00000458019.1",
"transcript_support_level": 1,
"aa_start": 52,
"aa_end": null,
"aa_length": 451,
"cds_start": 155,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 322,
"cdna_end": null,
"cdna_length": 3620,
"mane_select": "NM_001242818.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000563594.6"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEF8",
"gene_hgnc_id": 25969,
"hgvs_c": "c.155C>T",
"hgvs_p": "p.Pro52Leu",
"transcript": "ENST00000610455.4",
"protein_id": "ENSP00000480073.1",
"transcript_support_level": 1,
"aa_start": 52,
"aa_end": null,
"aa_length": 197,
"cds_start": 155,
"cds_end": null,
"cds_length": 594,
"cdna_start": 249,
"cdna_end": null,
"cdna_length": 816,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000610455.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEF8",
"gene_hgnc_id": 25969,
"hgvs_c": "c.155C>T",
"hgvs_p": "p.Pro52Leu",
"transcript": "ENST00000567999.5",
"protein_id": "ENSP00000457072.1",
"transcript_support_level": 1,
"aa_start": 52,
"aa_end": null,
"aa_length": 149,
"cds_start": 155,
"cds_end": null,
"cds_length": 450,
"cdna_start": 283,
"cdna_end": null,
"cdna_length": 578,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000567999.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEF8",
"gene_hgnc_id": 25969,
"hgvs_c": "c.-26C>T",
"hgvs_p": null,
"transcript": "NM_001242817.2",
"protein_id": "NP_001229746.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 391,
"cds_start": null,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3486,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242817.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEF8",
"gene_hgnc_id": 25969,
"hgvs_c": "c.-26C>T",
"hgvs_p": null,
"transcript": "ENST00000567874.5",
"protein_id": "ENSP00000456095.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 391,
"cds_start": null,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1554,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000567874.5"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEF8",
"gene_hgnc_id": 25969,
"hgvs_c": "c.-26C>T",
"hgvs_p": null,
"transcript": "ENST00000562986.5",
"protein_id": "ENSP00000455987.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 124,
"cds_start": null,
"cds_end": null,
"cds_length": 376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 468,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000562986.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEF8",
"gene_hgnc_id": 25969,
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Pro113Leu",
"transcript": "NM_001438955.1",
"protein_id": "NP_001425884.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 512,
"cds_start": 338,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 444,
"cdna_end": null,
"cdna_length": 3742,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438955.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEF8",
"gene_hgnc_id": 25969,
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Pro113Leu",
"transcript": "NM_207514.3",
"protein_id": "NP_997397.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 512,
"cds_start": 338,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 447,
"cdna_end": null,
"cdna_length": 3745,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_207514.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEF8",
"gene_hgnc_id": 25969,
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Pro113Leu",
"transcript": "ENST00000268676.11",
"protein_id": "ENSP00000268676.7",
"transcript_support_level": 2,
"aa_start": 113,
"aa_end": null,
"aa_length": 512,
"cds_start": 338,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 427,
"cdna_end": null,
"cdna_length": 3725,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000268676.11"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEF8",
"gene_hgnc_id": 25969,
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Pro113Leu",
"transcript": "NM_001438956.1",
"protein_id": "NP_001425885.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 495,
"cds_start": 338,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 447,
"cdna_end": null,
"cdna_length": 3694,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438956.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEF8",
"gene_hgnc_id": 25969,
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Pro113Leu",
"transcript": "NM_001438957.1",
"protein_id": "NP_001425886.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 495,
"cds_start": 338,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 444,
"cdna_end": null,
"cdna_length": 3691,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438957.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEF8",
"gene_hgnc_id": 25969,
"hgvs_c": "c.155C>T",
"hgvs_p": "p.Pro52Leu",
"transcript": "ENST00000968045.1",
"protein_id": "ENSP00000638104.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 466,
"cds_start": 155,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 280,
"cdna_end": null,
"cdna_length": 3622,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968045.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEF8",
"gene_hgnc_id": 25969,
"hgvs_c": "c.155C>T",
"hgvs_p": "p.Pro52Leu",
"transcript": "ENST00000875124.1",
"protein_id": "ENSP00000545183.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 460,
"cds_start": 155,
"cds_end": null,
"cds_length": 1383,
"cdna_start": 420,
"cdna_end": null,
"cdna_length": 3749,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875124.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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": "DEF8",
"gene_hgnc_id": 25969,
"hgvs_c": "c.155C>T",
"hgvs_p": "p.Pro52Leu",
"transcript": "NM_001242820.2",
"protein_id": "NP_001229749.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 451,
"cds_start": 155,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 562,
"cdna_end": null,
"cdna_length": 3860,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242820.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEF8",
"gene_hgnc_id": 25969,
"hgvs_c": "c.155C>T",
"hgvs_p": "p.Pro52Leu",
"transcript": "NM_001438958.1",
"protein_id": "NP_001425887.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 451,
"cds_start": 155,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 319,
"cdna_end": null,
"cdna_length": 3617,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438958.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEF8",
"gene_hgnc_id": 25969,
"hgvs_c": "c.155C>T",
"hgvs_p": "p.Pro52Leu",
"transcript": "NM_001438959.1",
"protein_id": "NP_001425888.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 451,
"cds_start": 155,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 299,
"cdna_end": null,
"cdna_length": 3597,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438959.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEF8",
"gene_hgnc_id": 25969,
"hgvs_c": "c.155C>T",
"hgvs_p": "p.Pro52Leu",
"transcript": "NM_001438960.1",
"protein_id": "NP_001425889.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 451,
"cds_start": 155,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 225,
"cdna_end": null,
"cdna_length": 3523,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438960.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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": "DEF8",
"gene_hgnc_id": 25969,
"hgvs_c": "c.155C>T",
"hgvs_p": "p.Pro52Leu",
"transcript": "ENST00000569453.5",
"protein_id": "ENSP00000456501.1",
"transcript_support_level": 2,
"aa_start": 52,
"aa_end": null,
"aa_length": 451,
"cds_start": 155,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 548,
"cdna_end": null,
"cdna_length": 1852,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000569453.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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": "DEF8",
"gene_hgnc_id": 25969,
"hgvs_c": "c.155C>T",
"hgvs_p": "p.Pro52Leu",
"transcript": "ENST00000617948.4",
"protein_id": "ENSP00000482524.1",
"transcript_support_level": 5,
"aa_start": 52,
"aa_end": null,
"aa_length": 451,
"cds_start": 155,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 586,
"cdna_end": null,
"cdna_length": 3883,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000617948.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEF8",
"gene_hgnc_id": 25969,
"hgvs_c": "c.155C>T",
"hgvs_p": "p.Pro52Leu",
"transcript": "ENST00000875120.1",
"protein_id": "ENSP00000545179.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 451,
"cds_start": 155,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 340,
"cdna_end": null,
"cdna_length": 3644,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875120.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEF8",
"gene_hgnc_id": 25969,
"hgvs_c": "c.155C>T",
"hgvs_p": "p.Pro52Leu",
"transcript": "ENST00000875125.1",
"protein_id": "ENSP00000545184.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 451,
"cds_start": 155,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 417,
"cdna_end": null,
"cdna_length": 3715,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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{
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},
{
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"feature": "ENST00000567874.5"
},
{
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},
{
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"strand": true,
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"non_coding_transcript_exon_variant"
],
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},
{
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"non_coding_transcript_exon_variant"
],
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{
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],
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"feature": "ENST00000568096.5"
},
{
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"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"gene_symbol": "DEF8",
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"transcript": "ENST00000569803.5",
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"biotype": "pseudogene",
"feature": "ENST00000569803.5"
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],
"gene_symbol": "DEF8",
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"dbsnp": "rs768574423",
"frequency_reference_population": 0.000024170577,
"hom_count_reference_population": 0,
"allele_count_reference_population": 39,
"gnomad_exomes_af": 0.0000198434,
"gnomad_genomes_af": 0.0000657514,
"gnomad_exomes_ac": 29,
"gnomad_genomes_ac": 10,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.13693302869796753,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.146,
"revel_prediction": "Benign",
"alphamissense_score": 0.0832,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.824,
"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_001242817.2",
"gene_symbol": "DEF8",
"hgnc_id": 25969,
"effects": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-26C>T",
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}
],
"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
}