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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: 4-53428082-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=53428082&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 53428082,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001376744.1",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.1073C>T",
"hgvs_p": "p.Pro358Leu",
"transcript": "NM_030917.4",
"protein_id": "NP_112179.2",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 594,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000337488.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030917.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.1073C>T",
"hgvs_p": "p.Pro358Leu",
"transcript": "ENST00000337488.11",
"protein_id": "ENSP00000336752.6",
"transcript_support_level": 1,
"aa_start": 358,
"aa_end": null,
"aa_length": 594,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_030917.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000337488.11"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.851C>T",
"hgvs_p": "p.Pro284Leu",
"transcript": "ENST00000306932.10",
"protein_id": "ENSP00000302993.6",
"transcript_support_level": 1,
"aa_start": 284,
"aa_end": null,
"aa_length": 520,
"cds_start": 851,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000306932.10"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.1028C>T",
"hgvs_p": "p.Pro343Leu",
"transcript": "ENST00000507922.5",
"protein_id": "ENSP00000425456.1",
"transcript_support_level": 1,
"aa_start": 343,
"aa_end": null,
"aa_length": 378,
"cds_start": 1028,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507922.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ENSG00000282278",
"gene_hgnc_id": null,
"hgvs_c": "c.1017+2117C>T",
"hgvs_p": null,
"transcript": "ENST00000507166.5",
"protein_id": "ENSP00000423325.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 849,
"cds_start": null,
"cds_end": null,
"cds_length": 2550,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507166.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "n.2296C>T",
"hgvs_p": null,
"transcript": "ENST00000505125.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000505125.5"
},
{
"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": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "n.186C>T",
"hgvs_p": null,
"transcript": "ENST00000513008.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000513008.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.1112C>T",
"hgvs_p": "p.Pro371Leu",
"transcript": "ENST00000928373.1",
"protein_id": "ENSP00000598432.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 607,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928373.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.1073C>T",
"hgvs_p": "p.Pro358Leu",
"transcript": "NM_001376744.1",
"protein_id": "NP_001363673.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 606,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376744.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.1073C>T",
"hgvs_p": "p.Pro358Leu",
"transcript": "ENST00000871721.1",
"protein_id": "ENSP00000541780.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 606,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871721.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.1073C>T",
"hgvs_p": "p.Pro358Leu",
"transcript": "NM_001376745.1",
"protein_id": "NP_001363674.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 603,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376745.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.1073C>T",
"hgvs_p": "p.Pro358Leu",
"transcript": "ENST00000703454.1",
"protein_id": "ENSP00000515305.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 603,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703454.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.1067C>T",
"hgvs_p": "p.Pro356Leu",
"transcript": "NM_001376746.1",
"protein_id": "NP_001363675.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 601,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376746.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.1067C>T",
"hgvs_p": "p.Pro356Leu",
"transcript": "ENST00000703484.1",
"protein_id": "ENSP00000515334.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 601,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703484.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.1073C>T",
"hgvs_p": "p.Pro358Leu",
"transcript": "ENST00000871723.1",
"protein_id": "ENSP00000541782.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 601,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871723.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.1067C>T",
"hgvs_p": "p.Pro356Leu",
"transcript": "ENST00000928376.1",
"protein_id": "ENSP00000598435.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 601,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928376.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.1064C>T",
"hgvs_p": "p.Pro355Leu",
"transcript": "ENST00000942748.1",
"protein_id": "ENSP00000612807.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 600,
"cds_start": 1064,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942748.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.1073C>T",
"hgvs_p": "p.Pro358Leu",
"transcript": "ENST00000942744.1",
"protein_id": "ENSP00000612803.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 597,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942744.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.1004C>T",
"hgvs_p": "p.Pro335Leu",
"transcript": "NM_001376747.1",
"protein_id": "NP_001363676.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 595,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376747.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.1004C>T",
"hgvs_p": "p.Pro335Leu",
"transcript": "ENST00000703485.1",
"protein_id": "ENSP00000515335.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 595,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703485.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.1073C>T",
"hgvs_p": "p.Pro358Leu",
"transcript": "ENST00000703489.1",
"protein_id": "ENSP00000515339.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 594,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703489.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FIP1L1",
"gene_hgnc_id": 19124,
"hgvs_c": "c.1067C>T",
"hgvs_p": "p.Pro356Leu",
"transcript": "ENST00000703474.1",
"protein_id": "ENSP00000515325.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 592,
"cds_start": 1067,
"cds_end": null,
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{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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"feature": "NR_164847.1"
},
{
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"protein_coding": false,
"strand": true,
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"biotype": "pseudogene",
"feature": "NR_164848.1"
},
{
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"canonical": false,
"protein_coding": false,
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"consequences": [
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"biotype": "pseudogene",
"feature": "NR_164849.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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{
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{
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{
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{
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{
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{
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],
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000703464.1"
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],
"gene_symbol": "FIP1L1",
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"dbsnp": "rs1405438085",
"frequency_reference_population": 0.0000068306945,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.00000685757,
"gnomad_genomes_af": 0.00000657307,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3057652413845062,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.20000000298023224,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.195,
"revel_prediction": "Benign",
"alphamissense_score": 0.376,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.12,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.362,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.2,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001376744.1",
"gene_symbol": "FIP1L1",
"hgnc_id": 19124,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1073C>T",
"hgvs_p": "p.Pro358Leu"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000507166.5",
"gene_symbol": "ENSG00000282278",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1017+2117C>T",
"hgvs_p": null
}
],
"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
}