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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: 11-62602619-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=62602619&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 62602619,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001300793.2",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML3",
"gene_hgnc_id": 26666,
"hgvs_c": "c.2547C>G",
"hgvs_p": "p.His849Gln",
"transcript": "NM_153265.3",
"protein_id": "NP_694997.2",
"transcript_support_level": null,
"aa_start": 849,
"aa_end": null,
"aa_length": 896,
"cds_start": 2547,
"cds_end": null,
"cds_length": 2691,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000394773.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153265.3"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML3",
"gene_hgnc_id": 26666,
"hgvs_c": "c.2547C>G",
"hgvs_p": "p.His849Gln",
"transcript": "ENST00000394773.7",
"protein_id": "ENSP00000378254.2",
"transcript_support_level": 1,
"aa_start": 849,
"aa_end": null,
"aa_length": 896,
"cds_start": 2547,
"cds_end": null,
"cds_length": 2691,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_153265.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394773.7"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML3",
"gene_hgnc_id": 26666,
"hgvs_c": "c.2658C>G",
"hgvs_p": "p.His886Gln",
"transcript": "ENST00000964792.1",
"protein_id": "ENSP00000634851.1",
"transcript_support_level": null,
"aa_start": 886,
"aa_end": null,
"aa_length": 933,
"cds_start": 2658,
"cds_end": null,
"cds_length": 2802,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964792.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML3",
"gene_hgnc_id": 26666,
"hgvs_c": "c.2440C>G",
"hgvs_p": "p.Arg814Gly",
"transcript": "NM_001300793.2",
"protein_id": "NP_001287722.1",
"transcript_support_level": null,
"aa_start": 814,
"aa_end": null,
"aa_length": 918,
"cds_start": 2440,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300793.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML3",
"gene_hgnc_id": 26666,
"hgvs_c": "c.2437C>G",
"hgvs_p": "p.Arg813Gly",
"transcript": "NM_001300794.2",
"protein_id": "NP_001287723.1",
"transcript_support_level": null,
"aa_start": 813,
"aa_end": null,
"aa_length": 917,
"cds_start": 2437,
"cds_end": null,
"cds_length": 2754,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300794.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML3",
"gene_hgnc_id": 26666,
"hgvs_c": "c.2437C>G",
"hgvs_p": "p.Arg813Gly",
"transcript": "ENST00000529309.5",
"protein_id": "ENSP00000434513.1",
"transcript_support_level": 2,
"aa_start": 813,
"aa_end": null,
"aa_length": 917,
"cds_start": 2437,
"cds_end": null,
"cds_length": 2754,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529309.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML3",
"gene_hgnc_id": 26666,
"hgvs_c": "c.2416C>G",
"hgvs_p": "p.Arg806Gly",
"transcript": "ENST00000394776.8",
"protein_id": "ENSP00000378256.4",
"transcript_support_level": 2,
"aa_start": 806,
"aa_end": null,
"aa_length": 910,
"cds_start": 2416,
"cds_end": null,
"cds_length": 2733,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394776.8"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML3",
"gene_hgnc_id": 26666,
"hgvs_c": "c.2580C>G",
"hgvs_p": "p.His860Gln",
"transcript": "ENST00000859385.1",
"protein_id": "ENSP00000529444.1",
"transcript_support_level": null,
"aa_start": 860,
"aa_end": null,
"aa_length": 907,
"cds_start": 2580,
"cds_end": null,
"cds_length": 2724,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859385.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML3",
"gene_hgnc_id": 26666,
"hgvs_c": "c.2550C>G",
"hgvs_p": "p.His850Gln",
"transcript": "NM_001411016.1",
"protein_id": "NP_001397945.1",
"transcript_support_level": null,
"aa_start": 850,
"aa_end": null,
"aa_length": 897,
"cds_start": 2550,
"cds_end": null,
"cds_length": 2694,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001411016.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML3",
"gene_hgnc_id": 26666,
"hgvs_c": "c.2550C>G",
"hgvs_p": "p.His850Gln",
"transcript": "ENST00000278845.8",
"protein_id": "ENSP00000278845.4",
"transcript_support_level": 5,
"aa_start": 850,
"aa_end": null,
"aa_length": 897,
"cds_start": 2550,
"cds_end": null,
"cds_length": 2694,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000278845.8"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML3",
"gene_hgnc_id": 26666,
"hgvs_c": "c.2544C>G",
"hgvs_p": "p.His848Gln",
"transcript": "ENST00000929848.1",
"protein_id": "ENSP00000599907.1",
"transcript_support_level": null,
"aa_start": 848,
"aa_end": null,
"aa_length": 895,
"cds_start": 2544,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929848.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML3",
"gene_hgnc_id": 26666,
"hgvs_c": "c.2541C>G",
"hgvs_p": "p.His847Gln",
"transcript": "ENST00000859380.1",
"protein_id": "ENSP00000529439.1",
"transcript_support_level": null,
"aa_start": 847,
"aa_end": null,
"aa_length": 894,
"cds_start": 2541,
"cds_end": null,
"cds_length": 2685,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859380.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML3",
"gene_hgnc_id": 26666,
"hgvs_c": "c.2541C>G",
"hgvs_p": "p.His847Gln",
"transcript": "ENST00000929849.1",
"protein_id": "ENSP00000599908.1",
"transcript_support_level": null,
"aa_start": 847,
"aa_end": null,
"aa_length": 894,
"cds_start": 2541,
"cds_end": null,
"cds_length": 2685,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929849.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML3",
"gene_hgnc_id": 26666,
"hgvs_c": "c.2538C>G",
"hgvs_p": "p.His846Gln",
"transcript": "ENST00000859388.1",
"protein_id": "ENSP00000529447.1",
"transcript_support_level": null,
"aa_start": 846,
"aa_end": null,
"aa_length": 893,
"cds_start": 2538,
"cds_end": null,
"cds_length": 2682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859388.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML3",
"gene_hgnc_id": 26666,
"hgvs_c": "c.2353C>G",
"hgvs_p": "p.Arg785Gly",
"transcript": "ENST00000494176.6",
"protein_id": "ENSP00000435064.1",
"transcript_support_level": 2,
"aa_start": 785,
"aa_end": null,
"aa_length": 889,
"cds_start": 2353,
"cds_end": null,
"cds_length": 2670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000494176.6"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML3",
"gene_hgnc_id": 26666,
"hgvs_c": "c.2508C>G",
"hgvs_p": "p.His836Gln",
"transcript": "ENST00000859391.1",
"protein_id": "ENSP00000529450.1",
"transcript_support_level": null,
"aa_start": 836,
"aa_end": null,
"aa_length": 883,
"cds_start": 2508,
"cds_end": null,
"cds_length": 2652,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859391.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML3",
"gene_hgnc_id": 26666,
"hgvs_c": "c.2505C>G",
"hgvs_p": "p.His835Gln",
"transcript": "ENST00000859379.1",
"protein_id": "ENSP00000529438.1",
"transcript_support_level": null,
"aa_start": 835,
"aa_end": null,
"aa_length": 882,
"cds_start": 2505,
"cds_end": null,
"cds_length": 2649,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859379.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML3",
"gene_hgnc_id": 26666,
"hgvs_c": "c.2505C>G",
"hgvs_p": "p.His835Gln",
"transcript": "ENST00000964791.1",
"protein_id": "ENSP00000634850.1",
"transcript_support_level": null,
"aa_start": 835,
"aa_end": null,
"aa_length": 882,
"cds_start": 2505,
"cds_end": null,
"cds_length": 2649,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964791.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML3",
"gene_hgnc_id": 26666,
"hgvs_c": "c.2502C>G",
"hgvs_p": "p.His834Gln",
"transcript": "ENST00000859387.1",
"protein_id": "ENSP00000529446.1",
"transcript_support_level": null,
"aa_start": 834,
"aa_end": null,
"aa_length": 881,
"cds_start": 2502,
"cds_end": null,
"cds_length": 2646,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859387.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML3",
"gene_hgnc_id": 26666,
"hgvs_c": "c.2499C>G",
"hgvs_p": "p.His833Gln",
"transcript": "ENST00000859386.1",
"protein_id": "ENSP00000529445.1",
"transcript_support_level": null,
"aa_start": 833,
"aa_end": null,
"aa_length": 880,
"cds_start": 2499,
"cds_end": null,
"cds_length": 2643,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859386.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML3",
"gene_hgnc_id": 26666,
"hgvs_c": "c.2496C>G",
"hgvs_p": "p.His832Gln",
"transcript": "ENST00000859377.1",
"protein_id": "ENSP00000529436.1",
"transcript_support_level": null,
"aa_start": 832,
"aa_end": null,
"aa_length": 879,
"cds_start": 2496,
"cds_end": null,
"cds_length": 2640,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859377.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML3",
"gene_hgnc_id": 26666,
"hgvs_c": "c.2424C>G",
"hgvs_p": "p.His808Gln",
"transcript": "ENST00000859383.1",
"protein_id": "ENSP00000529442.1",
"transcript_support_level": null,
"aa_start": 808,
"aa_end": null,
"aa_length": 855,
"cds_start": 2424,
"cds_end": null,
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"aa_start": 596,
"aa_end": null,
"aa_length": 700,
"cds_start": 1786,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426718.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML3",
"gene_hgnc_id": 26666,
"hgvs_c": "n.1371C>G",
"hgvs_p": null,
"transcript": "ENST00000460939.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000460939.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML3",
"gene_hgnc_id": 26666,
"hgvs_c": "n.*1837C>G",
"hgvs_p": null,
"transcript": "ENST00000494448.5",
"protein_id": "ENSP00000431752.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000494448.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML3",
"gene_hgnc_id": 26666,
"hgvs_c": "n.*1837C>G",
"hgvs_p": null,
"transcript": "ENST00000494448.5",
"protein_id": "ENSP00000431752.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000494448.5"
}
],
"gene_symbol": "EML3",
"gene_hgnc_id": 26666,
"dbsnp": "rs757062449",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2863008677959442,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.38999998569488525,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.13,
"revel_prediction": "Benign",
"alphamissense_score": 0.3265,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.508,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.39,
"spliceai_max_prediction": "Uncertain_significance",
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001300793.2",
"gene_symbol": "EML3",
"hgnc_id": 26666,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2440C>G",
"hgvs_p": "p.Arg814Gly"
}
],
"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
}