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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: 11-31456340-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=31456340&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 31456340,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000532287.6",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.241A>C",
"hgvs_p": "p.Ile81Leu",
"transcript": "NM_001304274.2",
"protein_id": "NP_001291203.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 166,
"cds_start": 241,
"cds_end": null,
"cds_length": 501,
"cdna_start": 374,
"cdna_end": null,
"cdna_length": 733,
"mane_select": "ENST00000532287.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.241A>C",
"hgvs_p": "p.Ile81Leu",
"transcript": "ENST00000532287.6",
"protein_id": "ENSP00000435576.1",
"transcript_support_level": 1,
"aa_start": 81,
"aa_end": null,
"aa_length": 166,
"cds_start": 241,
"cds_end": null,
"cds_length": 501,
"cdna_start": 374,
"cdna_end": null,
"cdna_length": 733,
"mane_select": "NM_001304274.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "n.92A>C",
"hgvs_p": null,
"transcript": "ENST00000528161.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1067,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "n.357A>C",
"hgvs_p": null,
"transcript": "ENST00000532624.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 985,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.241A>C",
"hgvs_p": "p.Ile81Leu",
"transcript": "NM_144981.3",
"protein_id": "NP_659418.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 166,
"cds_start": 241,
"cds_end": null,
"cds_length": 501,
"cdna_start": 437,
"cdna_end": null,
"cdna_length": 796,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.241A>C",
"hgvs_p": "p.Ile81Leu",
"transcript": "ENST00000278200.5",
"protein_id": "ENSP00000278200.1",
"transcript_support_level": 2,
"aa_start": 81,
"aa_end": null,
"aa_length": 166,
"cds_start": 241,
"cds_end": null,
"cds_length": 501,
"cdna_start": 437,
"cdna_end": null,
"cdna_length": 795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.241A>C",
"hgvs_p": "p.Ile81Leu",
"transcript": "ENST00000529749.5",
"protein_id": "ENSP00000432001.1",
"transcript_support_level": 3,
"aa_start": 81,
"aa_end": null,
"aa_length": 106,
"cds_start": 241,
"cds_end": null,
"cds_length": 321,
"cdna_start": 395,
"cdna_end": null,
"cdna_length": 475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.241A>C",
"hgvs_p": "p.Ile81Leu",
"transcript": "ENST00000530023.5",
"protein_id": "ENSP00000432792.1",
"transcript_support_level": 3,
"aa_start": 81,
"aa_end": null,
"aa_length": 95,
"cds_start": 241,
"cds_end": null,
"cds_length": 288,
"cdna_start": 505,
"cdna_end": null,
"cdna_length": 552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.241A>C",
"hgvs_p": "p.Ile81Leu",
"transcript": "XM_005252812.4",
"protein_id": "XP_005252869.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 166,
"cds_start": 241,
"cds_end": null,
"cds_length": 501,
"cdna_start": 551,
"cdna_end": null,
"cdna_length": 910,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.241A>C",
"hgvs_p": "p.Ile81Leu",
"transcript": "XM_011519942.2",
"protein_id": "XP_011518244.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 166,
"cds_start": 241,
"cds_end": null,
"cds_length": 501,
"cdna_start": 495,
"cdna_end": null,
"cdna_length": 854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.241A>C",
"hgvs_p": "p.Ile81Leu",
"transcript": "XM_011519943.3",
"protein_id": "XP_011518245.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 166,
"cds_start": 241,
"cds_end": null,
"cds_length": 501,
"cdna_start": 609,
"cdna_end": null,
"cdna_length": 968,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.241A>C",
"hgvs_p": "p.Ile81Leu",
"transcript": "XM_011519945.3",
"protein_id": "XP_011518247.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 166,
"cds_start": 241,
"cds_end": null,
"cds_length": 501,
"cdna_start": 432,
"cdna_end": null,
"cdna_length": 791,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.241A>C",
"hgvs_p": "p.Ile81Leu",
"transcript": "XM_011519946.3",
"protein_id": "XP_011518248.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 166,
"cds_start": 241,
"cds_end": null,
"cds_length": 501,
"cdna_start": 477,
"cdna_end": null,
"cdna_length": 836,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.241A>C",
"hgvs_p": "p.Ile81Leu",
"transcript": "XM_011519947.3",
"protein_id": "XP_011518249.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 166,
"cds_start": 241,
"cds_end": null,
"cds_length": 501,
"cdna_start": 414,
"cdna_end": null,
"cdna_length": 773,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.241A>C",
"hgvs_p": "p.Ile81Leu",
"transcript": "XM_017017305.2",
"protein_id": "XP_016872794.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 166,
"cds_start": 241,
"cds_end": null,
"cds_length": 501,
"cdna_start": 488,
"cdna_end": null,
"cdna_length": 847,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.241A>C",
"hgvs_p": "p.Ile81Leu",
"transcript": "XM_047426520.1",
"protein_id": "XP_047282476.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 166,
"cds_start": 241,
"cds_end": null,
"cds_length": 501,
"cdna_start": 454,
"cdna_end": null,
"cdna_length": 813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.241A>C",
"hgvs_p": "p.Ile81Leu",
"transcript": "XM_047426521.1",
"protein_id": "XP_047282477.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 166,
"cds_start": 241,
"cds_end": null,
"cds_length": 501,
"cdna_start": 316,
"cdna_end": null,
"cdna_length": 675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.133A>C",
"hgvs_p": "p.Ile45Leu",
"transcript": "XM_017017306.2",
"protein_id": "XP_016872795.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 130,
"cds_start": 133,
"cds_end": null,
"cds_length": 393,
"cdna_start": 328,
"cdna_end": null,
"cdna_length": 687,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "n.344A>C",
"hgvs_p": null,
"transcript": "ENST00000527184.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 486,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "n.410A>C",
"hgvs_p": null,
"transcript": "ENST00000531693.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "n.241A>C",
"hgvs_p": null,
"transcript": "ENST00000648582.1",
"protein_id": "ENSP00000497019.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 1905,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "n.374A>C",
"hgvs_p": null,
"transcript": "XR_242781.4",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IMMP1L",
"gene_hgnc_id": 26317,
"hgvs_c": "c.105+6832A>C",
"hgvs_p": null,
"transcript": "ENST00000526776.5",
"protein_id": "ENSP00000434280.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 94,
"cds_start": -4,
"cds_end": null,
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],
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
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"phylop100way_prediction": "Uncertain_significance",
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{
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"BP4"
],
"verdict": "Uncertain_significance",
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"effects": [
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"inheritance_mode": "AR",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}