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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: 4-155696975-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=155696975&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 155696975,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_000856.6",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1A1",
"gene_hgnc_id": 4685,
"hgvs_c": "c.108C>T",
"hgvs_p": "p.Ser36Ser",
"transcript": "NM_001130682.3",
"protein_id": "NP_001124154.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 690,
"cds_start": 108,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000506455.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130682.3"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1A1",
"gene_hgnc_id": 4685,
"hgvs_c": "c.108C>T",
"hgvs_p": "p.Ser36Ser",
"transcript": "ENST00000506455.6",
"protein_id": "ENSP00000424361.1",
"transcript_support_level": 1,
"aa_start": 36,
"aa_end": null,
"aa_length": 690,
"cds_start": 108,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001130682.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000506455.6"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1A1",
"gene_hgnc_id": 4685,
"hgvs_c": "c.108C>T",
"hgvs_p": "p.Ser36Ser",
"transcript": "ENST00000296518.11",
"protein_id": "ENSP00000296518.7",
"transcript_support_level": 1,
"aa_start": 36,
"aa_end": null,
"aa_length": 690,
"cds_start": 108,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000296518.11"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1A1",
"gene_hgnc_id": 4685,
"hgvs_c": "c.108C>T",
"hgvs_p": "p.Ser36Ser",
"transcript": "ENST00000511108.5",
"protein_id": "ENSP00000421493.1",
"transcript_support_level": 1,
"aa_start": 36,
"aa_end": null,
"aa_length": 690,
"cds_start": 108,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000511108.5"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1A1",
"gene_hgnc_id": 4685,
"hgvs_c": "c.108C>T",
"hgvs_p": "p.Ser36Ser",
"transcript": "ENST00000513574.1",
"protein_id": "ENSP00000426040.1",
"transcript_support_level": 1,
"aa_start": 36,
"aa_end": null,
"aa_length": 690,
"cds_start": 108,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000513574.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"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": "GUCY1A1",
"gene_hgnc_id": 4685,
"hgvs_c": "c.108C>T",
"hgvs_p": "p.Ser36Ser",
"transcript": "ENST00000511507.5",
"protein_id": "ENSP00000426968.1",
"transcript_support_level": 1,
"aa_start": 36,
"aa_end": null,
"aa_length": 624,
"cds_start": 108,
"cds_end": null,
"cds_length": 1875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000511507.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1A1",
"gene_hgnc_id": 4685,
"hgvs_c": "c.-667C>T",
"hgvs_p": null,
"transcript": "ENST00000393832.7",
"protein_id": "ENSP00000377418.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 432,
"cds_start": null,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393832.7"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1A1",
"gene_hgnc_id": 4685,
"hgvs_c": "n.108C>T",
"hgvs_p": null,
"transcript": "ENST00000443668.6",
"protein_id": "ENSP00000409903.2",
"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": "ENST00000443668.6"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1A1",
"gene_hgnc_id": 4685,
"hgvs_c": "n.108C>T",
"hgvs_p": null,
"transcript": "ENST00000515201.5",
"protein_id": "ENSP00000422141.1",
"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": "ENST00000515201.5"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1A1",
"gene_hgnc_id": 4685,
"hgvs_c": "c.108C>T",
"hgvs_p": "p.Ser36Ser",
"transcript": "NM_000856.6",
"protein_id": "NP_000847.2",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 690,
"cds_start": 108,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000856.6"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1A1",
"gene_hgnc_id": 4685,
"hgvs_c": "c.108C>T",
"hgvs_p": "p.Ser36Ser",
"transcript": "NM_001130683.4",
"protein_id": "NP_001124155.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 690,
"cds_start": 108,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130683.4"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1A1",
"gene_hgnc_id": 4685,
"hgvs_c": "c.108C>T",
"hgvs_p": "p.Ser36Ser",
"transcript": "NM_001130684.3",
"protein_id": "NP_001124156.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 690,
"cds_start": 108,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130684.3"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1A1",
"gene_hgnc_id": 4685,
"hgvs_c": "c.108C>T",
"hgvs_p": "p.Ser36Ser",
"transcript": "NM_001256449.2",
"protein_id": "NP_001243378.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 690,
"cds_start": 108,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256449.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1A1",
"gene_hgnc_id": 4685,
"hgvs_c": "c.108C>T",
"hgvs_p": "p.Ser36Ser",
"transcript": "NM_001379666.1",
"protein_id": "NP_001366595.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 690,
"cds_start": 108,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379666.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1A1",
"gene_hgnc_id": 4685,
"hgvs_c": "c.108C>T",
"hgvs_p": "p.Ser36Ser",
"transcript": "NM_001379667.1",
"protein_id": "NP_001366596.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 690,
"cds_start": 108,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379667.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1A1",
"gene_hgnc_id": 4685,
"hgvs_c": "c.108C>T",
"hgvs_p": "p.Ser36Ser",
"transcript": "NM_001379668.1",
"protein_id": "NP_001366597.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 690,
"cds_start": 108,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379668.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1A1",
"gene_hgnc_id": 4685,
"hgvs_c": "c.108C>T",
"hgvs_p": "p.Ser36Ser",
"transcript": "NM_001379669.1",
"protein_id": "NP_001366598.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 690,
"cds_start": 108,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379669.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1A1",
"gene_hgnc_id": 4685,
"hgvs_c": "c.108C>T",
"hgvs_p": "p.Ser36Ser",
"transcript": "NM_001379670.1",
"protein_id": "NP_001366599.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 690,
"cds_start": 108,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379670.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1A1",
"gene_hgnc_id": 4685,
"hgvs_c": "c.108C>T",
"hgvs_p": "p.Ser36Ser",
"transcript": "NM_001379671.1",
"protein_id": "NP_001366600.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 690,
"cds_start": 108,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379671.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1A1",
"gene_hgnc_id": 4685,
"hgvs_c": "c.108C>T",
"hgvs_p": "p.Ser36Ser",
"transcript": "NM_001379672.1",
"protein_id": "NP_001366601.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 690,
"cds_start": 108,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379672.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1A1",
"gene_hgnc_id": 4685,
"hgvs_c": "c.108C>T",
"hgvs_p": "p.Ser36Ser",
"transcript": "NM_001379673.1",
"protein_id": "NP_001366602.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 690,
"cds_start": 108,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379673.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1A1",
"gene_hgnc_id": 4685,
"hgvs_c": "c.108C>T",
"hgvs_p": "p.Ser36Ser",
"transcript": "NM_001379674.1",
"protein_id": "NP_001366603.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 690,
"cds_start": 108,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
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"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047450148.1"
},
{
"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": "GUCY1A1",
"gene_hgnc_id": 4685,
"hgvs_c": "n.108C>T",
"hgvs_p": null,
"transcript": "ENST00000509901.5",
"protein_id": "ENSP00000424863.1",
"transcript_support_level": 5,
"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": "ENST00000509901.5"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1A1",
"gene_hgnc_id": 4685,
"hgvs_c": "n.432C>T",
"hgvs_p": null,
"transcript": "ENST00000512983.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000512983.5"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCY1A1",
"gene_hgnc_id": 4685,
"hgvs_c": "n.239C>T",
"hgvs_p": null,
"transcript": "ENST00000515602.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000515602.5"
}
],
"gene_symbol": "GUCY1A1",
"gene_hgnc_id": 4685,
"dbsnp": "rs147315227",
"frequency_reference_population": 0.00001487505,
"hom_count_reference_population": 0,
"allele_count_reference_population": 24,
"gnomad_exomes_af": 0.0000150556,
"gnomad_genomes_af": 0.0000131413,
"gnomad_exomes_ac": 22,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7599999904632568,
"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": -0.76,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.326,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_000856.6",
"gene_symbol": "GUCY1A1",
"hgnc_id": 4685,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.108C>T",
"hgvs_p": "p.Ser36Ser"
}
],
"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
}