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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: 20-25407883-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=25407883&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 25407883,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_021067.5",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GINS1",
"gene_hgnc_id": 28980,
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Leu21Leu",
"transcript": "NM_021067.5",
"protein_id": "NP_066545.3",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 196,
"cds_start": 63,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000262460.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021067.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GINS1",
"gene_hgnc_id": 28980,
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Leu21Leu",
"transcript": "ENST00000262460.5",
"protein_id": "ENSP00000262460.4",
"transcript_support_level": 1,
"aa_start": 21,
"aa_end": null,
"aa_length": 196,
"cds_start": 63,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_021067.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262460.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GINS1",
"gene_hgnc_id": 28980,
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Leu21Leu",
"transcript": "ENST00000696814.1",
"protein_id": "ENSP00000512895.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 202,
"cds_start": 63,
"cds_end": null,
"cds_length": 609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696814.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GINS1",
"gene_hgnc_id": 28980,
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Leu21Leu",
"transcript": "ENST00000696894.1",
"protein_id": "ENSP00000512956.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 176,
"cds_start": 63,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696894.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GINS1",
"gene_hgnc_id": 28980,
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Leu21Leu",
"transcript": "NM_001410830.1",
"protein_id": "NP_001397759.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 157,
"cds_start": 63,
"cds_end": null,
"cds_length": 474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410830.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GINS1",
"gene_hgnc_id": 28980,
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Leu21Leu",
"transcript": "ENST00000696804.1",
"protein_id": "ENSP00000512884.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 157,
"cds_start": 63,
"cds_end": null,
"cds_length": 474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696804.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GINS1",
"gene_hgnc_id": 28980,
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Leu21Leu",
"transcript": "NM_001410831.1",
"protein_id": "NP_001397760.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 111,
"cds_start": 63,
"cds_end": null,
"cds_length": 336,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410831.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GINS1",
"gene_hgnc_id": 28980,
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Leu21Leu",
"transcript": "ENST00000696806.1",
"protein_id": "ENSP00000512885.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 111,
"cds_start": 63,
"cds_end": null,
"cds_length": 336,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696806.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GINS1",
"gene_hgnc_id": 28980,
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Leu21Leu",
"transcript": "ENST00000696875.1",
"protein_id": "ENSP00000512944.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 72,
"cds_start": 63,
"cds_end": null,
"cds_length": 219,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696875.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GINS1",
"gene_hgnc_id": 28980,
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Leu21Leu",
"transcript": "XM_047440625.1",
"protein_id": "XP_047296581.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 192,
"cds_start": 63,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440625.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GINS1",
"gene_hgnc_id": 28980,
"hgvs_c": "c.-206G>A",
"hgvs_p": null,
"transcript": "ENST00000484893.2",
"protein_id": "ENSP00000512869.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 161,
"cds_start": null,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000484893.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GINS1",
"gene_hgnc_id": 28980,
"hgvs_c": "c.-188G>A",
"hgvs_p": null,
"transcript": "ENST00000696807.1",
"protein_id": "ENSP00000512886.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 91,
"cds_start": null,
"cds_end": null,
"cds_length": 276,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696807.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GINS1",
"gene_hgnc_id": 28980,
"hgvs_c": "c.-343G>A",
"hgvs_p": null,
"transcript": "ENST00000696862.1",
"protein_id": "ENSP00000512935.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 86,
"cds_start": null,
"cds_end": null,
"cds_length": 261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696862.1"
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GINS1",
"gene_hgnc_id": 28980,
"hgvs_c": "c.-175-9221G>A",
"hgvs_p": null,
"transcript": "ENST00000696810.1",
"protein_id": "ENSP00000512888.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 91,
"cds_start": null,
"cds_end": null,
"cds_length": 276,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696810.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GINS1",
"gene_hgnc_id": 28980,
"hgvs_c": "n.63G>A",
"hgvs_p": null,
"transcript": "ENST00000696793.1",
"protein_id": "ENSP00000512875.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000696793.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GINS1",
"gene_hgnc_id": 28980,
"hgvs_c": "n.208G>A",
"hgvs_p": null,
"transcript": "ENST00000696798.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000696798.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GINS1",
"gene_hgnc_id": 28980,
"hgvs_c": "n.115G>A",
"hgvs_p": null,
"transcript": "ENST00000696803.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000696803.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GINS1",
"gene_hgnc_id": 28980,
"hgvs_c": "n.186G>A",
"hgvs_p": null,
"transcript": "ENST00000696805.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000696805.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GINS1",
"gene_hgnc_id": 28980,
"hgvs_c": "n.155G>A",
"hgvs_p": null,
"transcript": "ENST00000696813.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000696813.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GINS1",
"gene_hgnc_id": 28980,
"hgvs_c": "n.63G>A",
"hgvs_p": null,
"transcript": "ENST00000696870.1",
"protein_id": "ENSP00000512939.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000696870.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GINS1",
"gene_hgnc_id": 28980,
"hgvs_c": "n.63G>A",
"hgvs_p": null,
"transcript": "ENST00000696874.1",
"protein_id": "ENSP00000512943.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000696874.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GINS1",
"gene_hgnc_id": 28980,
"hgvs_c": "n.63G>A",
"hgvs_p": null,
"transcript": "ENST00000696876.1",
"protein_id": "ENSP00000512945.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000696876.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
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{
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{
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},
{
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"gene_symbol": "GINS1",
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"feature": "NR_134574.2"
},
{
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},
{
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},
{
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"gene_symbol": "GINS1",
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},
{
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"5_prime_UTR_variant"
],
"exon_rank": 1,
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"gene_symbol": "GINS1",
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"transcript": "ENST00000696895.1",
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"feature": "ENST00000696895.1"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 3,
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"gene_symbol": "LOC105372581",
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"transcript": "XR_937403.3",
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"biotype": "pseudogene",
"feature": "XR_937403.3"
}
],
"gene_symbol": "GINS1",
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"dbsnp": "rs1462176440",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84556e-7,
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"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.38999998569488525,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.028,
"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": "PM2,BP4_Moderate,BP6_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_021067.5",
"gene_symbol": "GINS1",
"hgnc_id": 28980,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.63G>A",
"hgvs_p": "p.Leu21Leu"
},
{
"score": -2,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "XR_937403.3",
"gene_symbol": "LOC105372581",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.225+188C>T",
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}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}