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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: 6-63684459-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=63684459&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 63684459,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_015153.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF3",
"gene_hgnc_id": 8921,
"hgvs_c": "c.737T>C",
"hgvs_p": "p.Ile246Thr",
"transcript": "NM_001370348.2",
"protein_id": "NP_001357277.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 2039,
"cds_start": 737,
"cds_end": null,
"cds_length": 6120,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000262043.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370348.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF3",
"gene_hgnc_id": 8921,
"hgvs_c": "c.737T>C",
"hgvs_p": "p.Ile246Thr",
"transcript": "ENST00000262043.8",
"protein_id": "ENSP00000262043.4",
"transcript_support_level": 5,
"aa_start": 246,
"aa_end": null,
"aa_length": 2039,
"cds_start": 737,
"cds_end": null,
"cds_length": 6120,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001370348.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262043.8"
},
{
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF3",
"gene_hgnc_id": 8921,
"hgvs_c": "c.737T>C",
"hgvs_p": "p.Ile246Thr",
"transcript": "ENST00000393387.5",
"protein_id": "ENSP00000377048.1",
"transcript_support_level": 1,
"aa_start": 246,
"aa_end": null,
"aa_length": 2039,
"cds_start": 737,
"cds_end": null,
"cds_length": 6120,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393387.5"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF3",
"gene_hgnc_id": 8921,
"hgvs_c": "c.179T>C",
"hgvs_p": "p.Ile60Thr",
"transcript": "ENST00000506783.5",
"protein_id": "ENSP00000424694.1",
"transcript_support_level": 1,
"aa_start": 60,
"aa_end": null,
"aa_length": 1071,
"cds_start": 179,
"cds_end": null,
"cds_length": 3217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000506783.5"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF3",
"gene_hgnc_id": 8921,
"hgvs_c": "c.737T>C",
"hgvs_p": "p.Ile246Thr",
"transcript": "ENST00000509330.5",
"protein_id": "ENSP00000422841.1",
"transcript_support_level": 1,
"aa_start": 246,
"aa_end": null,
"aa_length": 736,
"cds_start": 737,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000509330.5"
},
{
"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": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF3",
"gene_hgnc_id": 8921,
"hgvs_c": "n.*681T>C",
"hgvs_p": null,
"transcript": "ENST00000509876.5",
"protein_id": "ENSP00000424994.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000509876.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF3",
"gene_hgnc_id": 8921,
"hgvs_c": "n.*681T>C",
"hgvs_p": null,
"transcript": "ENST00000509876.5",
"protein_id": "ENSP00000424994.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000509876.5"
},
{
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF3",
"gene_hgnc_id": 8921,
"hgvs_c": "c.737T>C",
"hgvs_p": "p.Ile246Thr",
"transcript": "NM_015153.4",
"protein_id": "NP_055968.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 2039,
"cds_start": 737,
"cds_end": null,
"cds_length": 6120,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015153.4"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF3",
"gene_hgnc_id": 8921,
"hgvs_c": "c.737T>C",
"hgvs_p": "p.Ile246Thr",
"transcript": "ENST00000903919.1",
"protein_id": "ENSP00000573978.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 2039,
"cds_start": 737,
"cds_end": null,
"cds_length": 6120,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903919.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF3",
"gene_hgnc_id": 8921,
"hgvs_c": "c.737T>C",
"hgvs_p": "p.Ile246Thr",
"transcript": "ENST00000935699.1",
"protein_id": "ENSP00000605758.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 2039,
"cds_start": 737,
"cds_end": null,
"cds_length": 6120,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935699.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF3",
"gene_hgnc_id": 8921,
"hgvs_c": "c.737T>C",
"hgvs_p": "p.Ile246Thr",
"transcript": "ENST00000935701.1",
"protein_id": "ENSP00000605760.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 2039,
"cds_start": 737,
"cds_end": null,
"cds_length": 6120,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935701.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF3",
"gene_hgnc_id": 8921,
"hgvs_c": "c.737T>C",
"hgvs_p": "p.Ile246Thr",
"transcript": "ENST00000935702.1",
"protein_id": "ENSP00000605761.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 2039,
"cds_start": 737,
"cds_end": null,
"cds_length": 6120,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935702.1"
},
{
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF3",
"gene_hgnc_id": 8921,
"hgvs_c": "c.575T>C",
"hgvs_p": "p.Ile192Thr",
"transcript": "ENST00000935700.1",
"protein_id": "ENSP00000605759.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 1985,
"cds_start": 575,
"cds_end": null,
"cds_length": 5958,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935700.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF3",
"gene_hgnc_id": 8921,
"hgvs_c": "c.473T>C",
"hgvs_p": "p.Ile158Thr",
"transcript": "NM_001290259.2",
"protein_id": "NP_001277188.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 1951,
"cds_start": 473,
"cds_end": null,
"cds_length": 5856,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290259.2"
},
{
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF3",
"gene_hgnc_id": 8921,
"hgvs_c": "c.473T>C",
"hgvs_p": "p.Ile158Thr",
"transcript": "NM_001370349.2",
"protein_id": "NP_001357278.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 1951,
"cds_start": 473,
"cds_end": null,
"cds_length": 5856,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370349.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF3",
"gene_hgnc_id": 8921,
"hgvs_c": "c.596T>C",
"hgvs_p": "p.Ile199Thr",
"transcript": "ENST00000494284.6",
"protein_id": "ENSP00000424078.1",
"transcript_support_level": 2,
"aa_start": 199,
"aa_end": null,
"aa_length": 820,
"cds_start": 596,
"cds_end": null,
"cds_length": 2465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000494284.6"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF3",
"gene_hgnc_id": 8921,
"hgvs_c": "c.473T>C",
"hgvs_p": "p.Ile158Thr",
"transcript": "ENST00000481385.6",
"protein_id": "ENSP00000425227.1",
"transcript_support_level": 2,
"aa_start": 158,
"aa_end": null,
"aa_length": 812,
"cds_start": 473,
"cds_end": null,
"cds_length": 2439,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000481385.6"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF3",
"gene_hgnc_id": 8921,
"hgvs_c": "c.737T>C",
"hgvs_p": "p.Ile246Thr",
"transcript": "NM_001290260.2",
"protein_id": "NP_001277189.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 736,
"cds_start": 737,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290260.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF3",
"gene_hgnc_id": 8921,
"hgvs_c": "c.764T>C",
"hgvs_p": "p.Ile255Thr",
"transcript": "XM_011535648.4",
"protein_id": "XP_011533950.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 2048,
"cds_start": 764,
"cds_end": null,
"cds_length": 6147,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535648.4"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF3",
"gene_hgnc_id": 8921,
"hgvs_c": "c.473T>C",
"hgvs_p": "p.Ile158Thr",
"transcript": "XM_047418528.1",
"protein_id": "XP_047274484.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 1951,
"cds_start": 473,
"cds_end": null,
"cds_length": 5856,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418528.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF3",
"gene_hgnc_id": 8921,
"hgvs_c": "c.473T>C",
"hgvs_p": "p.Ile158Thr",
"transcript": "XM_047418529.1",
"protein_id": "XP_047274485.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 1951,
"cds_start": 473,
"cds_end": null,
"cds_length": 5856,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418529.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF3",
"gene_hgnc_id": 8921,
"hgvs_c": "c.473T>C",
"hgvs_p": "p.Ile158Thr",
"transcript": "XM_047418530.1",
"protein_id": "XP_047274486.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 1951,
"cds_start": 473,
"cds_end": null,
"cds_length": 5856,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418530.1"
},
{
"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": 15,
"intron_rank": 3,
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"gene_symbol": "PHF3",
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"hgvs_c": "c.-5+4298T>C",
"hgvs_p": null,
"transcript": "NM_001370350.2",
"protein_id": "NP_001357279.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 1308,
"cds_start": null,
"cds_end": null,
"cds_length": 3927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370350.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 2,
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"gene_symbol": "PHF3",
"gene_hgnc_id": 8921,
"hgvs_c": "c.-5+4298T>C",
"hgvs_p": null,
"transcript": "ENST00000515594.5",
"protein_id": "ENSP00000425338.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 859,
"cds_start": null,
"cds_end": null,
"cds_length": 2582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000515594.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF3",
"gene_hgnc_id": 8921,
"hgvs_c": "c.*214T>C",
"hgvs_p": null,
"transcript": "ENST00000514822.1",
"protein_id": "ENSP00000424197.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 103,
"cds_start": null,
"cds_end": null,
"cds_length": 313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000514822.1"
}
],
"gene_symbol": "PHF3",
"gene_hgnc_id": 8921,
"dbsnp": "rs181643726",
"frequency_reference_population": 0.000048955088,
"hom_count_reference_population": 1,
"allele_count_reference_population": 79,
"gnomad_exomes_af": 0.0000478981,
"gnomad_genomes_af": 0.0000590986,
"gnomad_exomes_ac": 70,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.011719316244125366,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.014,
"revel_prediction": "Benign",
"alphamissense_score": 0.0485,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.389,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_015153.4",
"gene_symbol": "PHF3",
"hgnc_id": 8921,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.737T>C",
"hgvs_p": "p.Ile246Thr"
}
],
"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
}