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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: 3-10081395-TT-ATGGAC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=10081395&ref=TT&alt=ATGGAC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 10081395,
"ref": "TT",
"alt": "ATGGAC",
"effect": "frameshift_variant,missense_variant",
"transcript": "NM_033084.6",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "DG?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCD2",
"gene_hgnc_id": 3585,
"hgvs_c": "c.3155_3156delTTinsATGGAC",
"hgvs_p": "p.Val1052fs",
"transcript": "NM_001018115.3",
"protein_id": "NP_001018125.1",
"transcript_support_level": null,
"aa_start": 1052,
"aa_end": null,
"aa_length": 1451,
"cds_start": 3155,
"cds_end": null,
"cds_length": 4356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000675286.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001018115.3"
},
{
"aa_ref": "V",
"aa_alt": "DG?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCD2",
"gene_hgnc_id": 3585,
"hgvs_c": "c.3155_3156delTTinsATGGAC",
"hgvs_p": "p.Val1052fs",
"transcript": "ENST00000675286.1",
"protein_id": "ENSP00000502379.1",
"transcript_support_level": null,
"aa_start": 1052,
"aa_end": null,
"aa_length": 1451,
"cds_start": 3155,
"cds_end": null,
"cds_length": 4356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001018115.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675286.1"
},
{
"aa_ref": "V",
"aa_alt": "DG?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCD2",
"gene_hgnc_id": 3585,
"hgvs_c": "c.3155_3156delTTinsATGGAC",
"hgvs_p": "p.Val1052fs",
"transcript": "ENST00000287647.7",
"protein_id": "ENSP00000287647.3",
"transcript_support_level": 1,
"aa_start": 1052,
"aa_end": null,
"aa_length": 1471,
"cds_start": 3155,
"cds_end": null,
"cds_length": 4416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000287647.7"
},
{
"aa_ref": "V",
"aa_alt": "DG?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCD2",
"gene_hgnc_id": 3585,
"hgvs_c": "c.3155_3156delTTinsATGGAC",
"hgvs_p": "p.Val1052fs",
"transcript": "ENST00000419585.5",
"protein_id": "ENSP00000398754.1",
"transcript_support_level": 1,
"aa_start": 1052,
"aa_end": null,
"aa_length": 1451,
"cds_start": 3155,
"cds_end": null,
"cds_length": 4356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419585.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCD2OS",
"gene_hgnc_id": 28623,
"hgvs_c": "c.*179_*180delAAinsGTCCAT",
"hgvs_p": null,
"transcript": "ENST00000524279.1",
"protein_id": "ENSP00000429663.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 177,
"cds_start": null,
"cds_end": null,
"cds_length": 534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000524279.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCD2",
"gene_hgnc_id": 3585,
"hgvs_c": "n.1652_1653delTTinsATGGAC",
"hgvs_p": null,
"transcript": "ENST00000421731.5",
"protein_id": "ENSP00000389936.1",
"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": "ENST00000421731.5"
},
{
"aa_ref": "V",
"aa_alt": "DG?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCD2",
"gene_hgnc_id": 3585,
"hgvs_c": "c.3227_3228delTTinsATGGAC",
"hgvs_p": "p.Val1076fs",
"transcript": "ENST00000915105.1",
"protein_id": "ENSP00000585164.1",
"transcript_support_level": null,
"aa_start": 1076,
"aa_end": null,
"aa_length": 1475,
"cds_start": 3227,
"cds_end": null,
"cds_length": 4428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915105.1"
},
{
"aa_ref": "V",
"aa_alt": "DG?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCD2",
"gene_hgnc_id": 3585,
"hgvs_c": "c.3155_3156delTTinsATGGAC",
"hgvs_p": "p.Val1052fs",
"transcript": "NM_033084.6",
"protein_id": "NP_149075.2",
"transcript_support_level": null,
"aa_start": 1052,
"aa_end": null,
"aa_length": 1471,
"cds_start": 3155,
"cds_end": null,
"cds_length": 4416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033084.6"
},
{
"aa_ref": "V",
"aa_alt": "DG?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCD2",
"gene_hgnc_id": 3585,
"hgvs_c": "c.3155_3156delTTinsATGGAC",
"hgvs_p": "p.Val1052fs",
"transcript": "NM_001374254.1",
"protein_id": "NP_001361183.1",
"transcript_support_level": null,
"aa_start": 1052,
"aa_end": null,
"aa_length": 1458,
"cds_start": 3155,
"cds_end": null,
"cds_length": 4377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374254.1"
},
{
"aa_ref": "V",
"aa_alt": "DG?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCD2",
"gene_hgnc_id": 3585,
"hgvs_c": "c.3155_3156delTTinsATGGAC",
"hgvs_p": "p.Val1052fs",
"transcript": "NM_001319984.2",
"protein_id": "NP_001306913.1",
"transcript_support_level": null,
"aa_start": 1052,
"aa_end": null,
"aa_length": 1451,
"cds_start": 3155,
"cds_end": null,
"cds_length": 4356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319984.2"
},
{
"aa_ref": "V",
"aa_alt": "DG?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCD2",
"gene_hgnc_id": 3585,
"hgvs_c": "c.3155_3156delTTinsATGGAC",
"hgvs_p": "p.Val1052fs",
"transcript": "ENST00000915101.1",
"protein_id": "ENSP00000585160.1",
"transcript_support_level": null,
"aa_start": 1052,
"aa_end": null,
"aa_length": 1451,
"cds_start": 3155,
"cds_end": null,
"cds_length": 4356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915101.1"
},
{
"aa_ref": "V",
"aa_alt": "DG?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCD2",
"gene_hgnc_id": 3585,
"hgvs_c": "c.3152_3153delTTinsATGGAC",
"hgvs_p": "p.Val1051fs",
"transcript": "ENST00000915096.1",
"protein_id": "ENSP00000585155.1",
"transcript_support_level": null,
"aa_start": 1051,
"aa_end": null,
"aa_length": 1450,
"cds_start": 3152,
"cds_end": null,
"cds_length": 4353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915096.1"
},
{
"aa_ref": "V",
"aa_alt": "DG?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCD2",
"gene_hgnc_id": 3585,
"hgvs_c": "c.3146_3147delTTinsATGGAC",
"hgvs_p": "p.Val1049fs",
"transcript": "ENST00000915113.1",
"protein_id": "ENSP00000585172.1",
"transcript_support_level": null,
"aa_start": 1049,
"aa_end": null,
"aa_length": 1448,
"cds_start": 3146,
"cds_end": null,
"cds_length": 4347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915113.1"
},
{
"aa_ref": "V",
"aa_alt": "DG?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCD2",
"gene_hgnc_id": 3585,
"hgvs_c": "c.3119_3120delTTinsATGGAC",
"hgvs_p": "p.Val1040fs",
"transcript": "ENST00000915095.1",
"protein_id": "ENSP00000585154.1",
"transcript_support_level": null,
"aa_start": 1040,
"aa_end": null,
"aa_length": 1439,
"cds_start": 3119,
"cds_end": null,
"cds_length": 4320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915095.1"
},
{
"aa_ref": "V",
"aa_alt": "DG?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCD2",
"gene_hgnc_id": 3585,
"hgvs_c": "c.3155_3156delTTinsATGGAC",
"hgvs_p": "p.Val1052fs",
"transcript": "ENST00000915104.1",
"protein_id": "ENSP00000585163.1",
"transcript_support_level": null,
"aa_start": 1052,
"aa_end": null,
"aa_length": 1438,
"cds_start": 3155,
"cds_end": null,
"cds_length": 4317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915104.1"
},
{
"aa_ref": "V",
"aa_alt": "DG?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCD2",
"gene_hgnc_id": 3585,
"hgvs_c": "c.3155_3156delTTinsATGGAC",
"hgvs_p": "p.Val1052fs",
"transcript": "ENST00000915106.1",
"protein_id": "ENSP00000585165.1",
"transcript_support_level": null,
"aa_start": 1052,
"aa_end": null,
"aa_length": 1438,
"cds_start": 3155,
"cds_end": null,
"cds_length": 4317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915106.1"
},
{
"aa_ref": "V",
"aa_alt": "DG?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCD2",
"gene_hgnc_id": 3585,
"hgvs_c": "c.3155_3156delTTinsATGGAC",
"hgvs_p": "p.Val1052fs",
"transcript": "ENST00000915108.1",
"protein_id": "ENSP00000585167.1",
"transcript_support_level": null,
"aa_start": 1052,
"aa_end": null,
"aa_length": 1431,
"cds_start": 3155,
"cds_end": null,
"cds_length": 4296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915108.1"
},
{
"aa_ref": "V",
"aa_alt": "DG?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCD2",
"gene_hgnc_id": 3585,
"hgvs_c": "c.3071_3072delTTinsATGGAC",
"hgvs_p": "p.Val1024fs",
"transcript": "ENST00000915110.1",
"protein_id": "ENSP00000585169.1",
"transcript_support_level": null,
"aa_start": 1024,
"aa_end": null,
"aa_length": 1423,
"cds_start": 3071,
"cds_end": null,
"cds_length": 4272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915110.1"
},
{
"aa_ref": "V",
"aa_alt": "DG?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCD2",
"gene_hgnc_id": 3585,
"hgvs_c": "c.3044_3045delTTinsATGGAC",
"hgvs_p": "p.Val1015fs",
"transcript": "NM_001374253.1",
"protein_id": "NP_001361182.1",
"transcript_support_level": null,
"aa_start": 1015,
"aa_end": null,
"aa_length": 1414,
"cds_start": 3044,
"cds_end": null,
"cds_length": 4245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374253.1"
},
{
"aa_ref": "V",
"aa_alt": "DG?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCD2",
"gene_hgnc_id": 3585,
"hgvs_c": "c.3044_3045delTTinsATGGAC",
"hgvs_p": "p.Val1015fs",
"transcript": "ENST00000915109.1",
"protein_id": "ENSP00000585168.1",
"transcript_support_level": null,
"aa_start": 1015,
"aa_end": null,
"aa_length": 1414,
"cds_start": 3044,
"cds_end": null,
"cds_length": 4245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915109.1"
},
{
"aa_ref": "V",
"aa_alt": "DG?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCD2",
"gene_hgnc_id": 3585,
"hgvs_c": "c.3044_3045delTTinsATGGAC",
"hgvs_p": "p.Val1015fs",
"transcript": "ENST00000676013.1",
"protein_id": "ENSP00000501999.1",
"transcript_support_level": null,
"aa_start": 1015,
"aa_end": null,
"aa_length": 1413,
"cds_start": 3044,
"cds_end": null,
"cds_length": 4244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676013.1"
},
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"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": "XR_007095634.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCD2OS",
"gene_hgnc_id": 28623,
"hgvs_c": "n.1096_1097delAAinsGTCCAT",
"hgvs_p": null,
"transcript": "XR_007095635.1",
"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": "XR_007095635.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCD2OS",
"gene_hgnc_id": 28623,
"hgvs_c": "n.1069_1070delAAinsGTCCAT",
"hgvs_p": null,
"transcript": "XR_007095636.1",
"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": "XR_007095636.1"
}
],
"gene_symbol": "FANCD2",
"gene_hgnc_id": 3585,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.222,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "NM_033084.6",
"gene_symbol": "FANCD2",
"hgnc_id": 3585,
"effects": [
"frameshift_variant",
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3155_3156delTTinsATGGAC",
"hgvs_p": "p.Val1052fs"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP5_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_173472.2",
"gene_symbol": "FANCD2OS",
"hgnc_id": 28623,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*179_*180delAAinsGTCCAT",
"hgvs_p": null
}
],
"clinvar_disease": "Fanconi anemia complementation group D2",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Fanconi anemia complementation group D2",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}