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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: 14-99914251-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=99914251&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 99914251,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "NM_001008707.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML1",
"gene_hgnc_id": 3330,
"hgvs_c": "c.1567C>T",
"hgvs_p": "p.Arg523*",
"transcript": "NM_004434.3",
"protein_id": "NP_004425.2",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 815,
"cds_start": 1567,
"cds_end": null,
"cds_length": 2448,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000262233.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004434.3"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML1",
"gene_hgnc_id": 3330,
"hgvs_c": "c.1567C>T",
"hgvs_p": "p.Arg523*",
"transcript": "ENST00000262233.11",
"protein_id": "ENSP00000262233.7",
"transcript_support_level": 1,
"aa_start": 523,
"aa_end": null,
"aa_length": 815,
"cds_start": 1567,
"cds_end": null,
"cds_length": 2448,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004434.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262233.11"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML1",
"gene_hgnc_id": 3330,
"hgvs_c": "c.1741C>T",
"hgvs_p": "p.Arg581*",
"transcript": "ENST00000909081.1",
"protein_id": "ENSP00000579140.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 873,
"cds_start": 1741,
"cds_end": null,
"cds_length": 2622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909081.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML1",
"gene_hgnc_id": 3330,
"hgvs_c": "c.1567C>T",
"hgvs_p": "p.Arg523*",
"transcript": "ENST00000940980.1",
"protein_id": "ENSP00000611039.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 846,
"cds_start": 1567,
"cds_end": null,
"cds_length": 2541,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940980.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML1",
"gene_hgnc_id": 3330,
"hgvs_c": "c.1642C>T",
"hgvs_p": "p.Arg548*",
"transcript": "ENST00000649352.1",
"protein_id": "ENSP00000498100.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 840,
"cds_start": 1642,
"cds_end": null,
"cds_length": 2523,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649352.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML1",
"gene_hgnc_id": 3330,
"hgvs_c": "c.1624C>T",
"hgvs_p": "p.Arg542*",
"transcript": "NM_001008707.2",
"protein_id": "NP_001008707.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 834,
"cds_start": 1624,
"cds_end": null,
"cds_length": 2505,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001008707.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML1",
"gene_hgnc_id": 3330,
"hgvs_c": "c.1624C>T",
"hgvs_p": "p.Arg542*",
"transcript": "ENST00000334192.8",
"protein_id": "ENSP00000334314.4",
"transcript_support_level": 5,
"aa_start": 542,
"aa_end": null,
"aa_length": 834,
"cds_start": 1624,
"cds_end": null,
"cds_length": 2505,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000334192.8"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML1",
"gene_hgnc_id": 3330,
"hgvs_c": "c.1594C>T",
"hgvs_p": "p.Arg532*",
"transcript": "ENST00000909078.1",
"protein_id": "ENSP00000579137.1",
"transcript_support_level": null,
"aa_start": 532,
"aa_end": null,
"aa_length": 824,
"cds_start": 1594,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909078.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML1",
"gene_hgnc_id": 3330,
"hgvs_c": "c.1585C>T",
"hgvs_p": "p.Arg529*",
"transcript": "NM_001440375.1",
"protein_id": "NP_001427304.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 821,
"cds_start": 1585,
"cds_end": null,
"cds_length": 2466,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440375.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML1",
"gene_hgnc_id": 3330,
"hgvs_c": "c.1564C>T",
"hgvs_p": "p.Arg522*",
"transcript": "ENST00000940979.1",
"protein_id": "ENSP00000611038.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 814,
"cds_start": 1564,
"cds_end": null,
"cds_length": 2445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940979.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML1",
"gene_hgnc_id": 3330,
"hgvs_c": "c.1531C>T",
"hgvs_p": "p.Arg511*",
"transcript": "ENST00000327921.13",
"protein_id": "ENSP00000327384.9",
"transcript_support_level": 2,
"aa_start": 511,
"aa_end": null,
"aa_length": 803,
"cds_start": 1531,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000327921.13"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML1",
"gene_hgnc_id": 3330,
"hgvs_c": "c.1528C>T",
"hgvs_p": "p.Arg510*",
"transcript": "NM_001375411.1",
"protein_id": "NP_001362340.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 802,
"cds_start": 1528,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375411.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML1",
"gene_hgnc_id": 3330,
"hgvs_c": "c.1513C>T",
"hgvs_p": "p.Arg505*",
"transcript": "ENST00000909079.1",
"protein_id": "ENSP00000579138.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 797,
"cds_start": 1513,
"cds_end": null,
"cds_length": 2394,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909079.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML1",
"gene_hgnc_id": 3330,
"hgvs_c": "c.1585C>T",
"hgvs_p": "p.Arg529*",
"transcript": "NM_001440376.1",
"protein_id": "NP_001427305.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 777,
"cds_start": 1585,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440376.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML1",
"gene_hgnc_id": 3330,
"hgvs_c": "c.1567C>T",
"hgvs_p": "p.Arg523*",
"transcript": "NM_001375412.1",
"protein_id": "NP_001362341.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 771,
"cds_start": 1567,
"cds_end": null,
"cds_length": 2316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375412.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML1",
"gene_hgnc_id": 3330,
"hgvs_c": "c.1567C>T",
"hgvs_p": "p.Arg523*",
"transcript": "ENST00000909082.1",
"protein_id": "ENSP00000579141.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 771,
"cds_start": 1567,
"cds_end": null,
"cds_length": 2316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909082.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML1",
"gene_hgnc_id": 3330,
"hgvs_c": "c.1528C>T",
"hgvs_p": "p.Arg510*",
"transcript": "NM_001440377.1",
"protein_id": "NP_001427306.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 758,
"cds_start": 1528,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440377.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML1",
"gene_hgnc_id": 3330,
"hgvs_c": "c.1384C>T",
"hgvs_p": "p.Arg462*",
"transcript": "ENST00000909080.1",
"protein_id": "ENSP00000579139.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 754,
"cds_start": 1384,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909080.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML1",
"gene_hgnc_id": 3330,
"hgvs_c": "c.1642C>T",
"hgvs_p": "p.Arg548*",
"transcript": "XM_005267399.4",
"protein_id": "XP_005267456.2",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 840,
"cds_start": 1642,
"cds_end": null,
"cds_length": 2523,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005267399.4"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML1",
"gene_hgnc_id": 3330,
"hgvs_c": "c.1624C>T",
"hgvs_p": "p.Arg542*",
"transcript": "XM_005267397.2",
"protein_id": "XP_005267454.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 834,
"cds_start": 1624,
"cds_end": null,
"cds_length": 2505,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005267397.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML1",
"gene_hgnc_id": 3330,
"hgvs_c": "c.1585C>T",
"hgvs_p": "p.Arg529*",
"transcript": "XM_005267398.3",
"protein_id": "XP_005267455.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 821,
"cds_start": 1585,
"cds_end": null,
"cds_length": 2466,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005267398.3"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML1",
"gene_hgnc_id": 3330,
"hgvs_c": "c.1642C>T",
"hgvs_p": "p.Arg548*",
"transcript": "XM_011536542.4",
"protein_id": "XP_011534844.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 796,
"cds_start": 1642,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536542.4"
},
{
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{
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"intron_variant"
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"gene_symbol": "EML1",
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"hgvs_c": "c.1340-3565C>T",
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"transcript": "ENST00000912116.1",
"protein_id": "ENSP00000582175.1",
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"biotype": "protein_coding",
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},
{
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"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"gene_symbol": "EML1",
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"hgvs_c": "n.1325C>T",
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"transcript": "ENST00000554111.1",
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"transcript_support_level": 2,
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"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000554111.1"
}
],
"gene_symbol": "EML1",
"gene_hgnc_id": 3330,
"dbsnp": "rs1555404109",
"frequency_reference_population": 6.8411805e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84118e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5600000023841858,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.56,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 2.107,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": 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_001008707.2",
"gene_symbol": "EML1",
"hgnc_id": 3330,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1624C>T",
"hgvs_p": "p.Arg542*"
}
],
"clinvar_disease": "Band heterotopia of brain",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Band heterotopia of brain",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}