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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: 11-68936307-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=68936307&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 68936307,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000255078.8",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGHMBP2",
"gene_hgnc_id": 5542,
"hgvs_c": "c.1827G>A",
"hgvs_p": "p.Ala609Ala",
"transcript": "NM_002180.3",
"protein_id": "NP_002171.2",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 993,
"cds_start": 1827,
"cds_end": null,
"cds_length": 2982,
"cdna_start": 1889,
"cdna_end": null,
"cdna_length": 3914,
"mane_select": "ENST00000255078.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGHMBP2",
"gene_hgnc_id": 5542,
"hgvs_c": "c.1827G>A",
"hgvs_p": "p.Ala609Ala",
"transcript": "ENST00000255078.8",
"protein_id": "ENSP00000255078.4",
"transcript_support_level": 1,
"aa_start": 609,
"aa_end": null,
"aa_length": 993,
"cds_start": 1827,
"cds_end": null,
"cds_length": 2982,
"cdna_start": 1889,
"cdna_end": null,
"cdna_length": 3914,
"mane_select": "NM_002180.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGHMBP2",
"gene_hgnc_id": 5542,
"hgvs_c": "n.522G>A",
"hgvs_p": null,
"transcript": "ENST00000541229.5",
"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": 549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGHMBP2",
"gene_hgnc_id": 5542,
"hgvs_c": "c.1827G>A",
"hgvs_p": "p.Ala609Ala",
"transcript": "ENST00000675615.1",
"protein_id": "ENSP00000502413.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 875,
"cds_start": 1827,
"cds_end": null,
"cds_length": 2628,
"cdna_start": 1917,
"cdna_end": null,
"cdna_length": 2914,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGHMBP2",
"gene_hgnc_id": 5542,
"hgvs_c": "c.69G>A",
"hgvs_p": "p.Ala23Ala",
"transcript": "ENST00000674675.1",
"protein_id": "ENSP00000502787.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 308,
"cds_start": 69,
"cds_end": null,
"cds_length": 927,
"cdna_start": 71,
"cdna_end": null,
"cdna_length": 929,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGHMBP2",
"gene_hgnc_id": 5542,
"hgvs_c": "c.1827G>A",
"hgvs_p": "p.Ala609Ala",
"transcript": "XM_047426881.1",
"protein_id": "XP_047282837.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 956,
"cds_start": 1827,
"cds_end": null,
"cds_length": 2871,
"cdna_start": 1889,
"cdna_end": null,
"cdna_length": 3015,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGHMBP2",
"gene_hgnc_id": 5542,
"hgvs_c": "c.816G>A",
"hgvs_p": "p.Ala272Ala",
"transcript": "XM_017017670.3",
"protein_id": "XP_016873159.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 656,
"cds_start": 816,
"cds_end": null,
"cds_length": 1971,
"cdna_start": 3081,
"cdna_end": null,
"cdna_length": 5106,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGHMBP2",
"gene_hgnc_id": 5542,
"hgvs_c": "c.699G>A",
"hgvs_p": "p.Ala233Ala",
"transcript": "XM_005273975.4",
"protein_id": "XP_005274032.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 617,
"cds_start": 699,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 1845,
"cdna_end": null,
"cdna_length": 3870,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGHMBP2",
"gene_hgnc_id": 5542,
"hgvs_c": "c.594G>A",
"hgvs_p": "p.Ala198Ala",
"transcript": "XM_011544994.2",
"protein_id": "XP_011543296.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 582,
"cds_start": 594,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 3298,
"cdna_end": null,
"cdna_length": 5323,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "IGHMBP2",
"gene_hgnc_id": 5542,
"hgvs_c": "n.1586G>A",
"hgvs_p": null,
"transcript": "ENST00000539064.5",
"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,
"cdna_length": 2346,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "IGHMBP2",
"gene_hgnc_id": 5542,
"hgvs_c": "n.820G>A",
"hgvs_p": null,
"transcript": "ENST00000543739.5",
"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,
"cdna_length": 2846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGHMBP2",
"gene_hgnc_id": 5542,
"hgvs_c": "n.423G>A",
"hgvs_p": null,
"transcript": "ENST00000545475.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGHMBP2",
"gene_hgnc_id": 5542,
"hgvs_c": "n.69G>A",
"hgvs_p": null,
"transcript": "ENST00000674878.1",
"protein_id": "ENSP00000501899.1",
"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": 889,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGHMBP2",
"gene_hgnc_id": 5542,
"hgvs_c": "n.*544G>A",
"hgvs_p": null,
"transcript": "ENST00000674955.1",
"protein_id": "ENSP00000502463.1",
"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": 2512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGHMBP2",
"gene_hgnc_id": 5542,
"hgvs_c": "n.*1053G>A",
"hgvs_p": null,
"transcript": "ENST00000675118.1",
"protein_id": "ENSP00000501570.1",
"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": 3340,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGHMBP2",
"gene_hgnc_id": 5542,
"hgvs_c": "n.102G>A",
"hgvs_p": null,
"transcript": "ENST00000675389.1",
"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": 886,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGHMBP2",
"gene_hgnc_id": 5542,
"hgvs_c": "n.1202G>A",
"hgvs_p": null,
"transcript": "ENST00000675648.1",
"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": 3414,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGHMBP2",
"gene_hgnc_id": 5542,
"hgvs_c": "n.69G>A",
"hgvs_p": null,
"transcript": "ENST00000675916.1",
"protein_id": "ENSP00000501575.1",
"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": 2283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGHMBP2",
"gene_hgnc_id": 5542,
"hgvs_c": "n.*2268G>A",
"hgvs_p": null,
"transcript": "ENST00000676173.2",
"protein_id": "ENSP00000520445.1",
"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": 4597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGHMBP2",
"gene_hgnc_id": 5542,
"hgvs_c": "n.*154G>A",
"hgvs_p": null,
"transcript": "ENST00000676182.1",
"protein_id": "ENSP00000501625.1",
"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": 1042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGHMBP2",
"gene_hgnc_id": 5542,
"hgvs_c": "n.*1150G>A",
"hgvs_p": null,
"transcript": "ENST00000676228.1",
"protein_id": "ENSP00000502375.1",
"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": 2603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGHMBP2",
"gene_hgnc_id": 5542,
"hgvs_c": "n.*544G>A",
"hgvs_p": null,
"transcript": "ENST00000674955.1",
"protein_id": "ENSP00000502463.1",
"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": 2512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGHMBP2",
"gene_hgnc_id": 5542,
"hgvs_c": "n.*1053G>A",
"hgvs_p": null,
"transcript": "ENST00000675118.1",
"protein_id": "ENSP00000501570.1",
"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": 3340,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGHMBP2",
"gene_hgnc_id": 5542,
"hgvs_c": "n.*2268G>A",
"hgvs_p": null,
"transcript": "ENST00000676173.2",
"protein_id": "ENSP00000520445.1",
"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": 4597,
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"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGHMBP2",
"gene_hgnc_id": 5542,
"hgvs_c": "n.*154G>A",
"hgvs_p": null,
"transcript": "ENST00000676182.1",
"protein_id": "ENSP00000501625.1",
"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": 1042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGHMBP2",
"gene_hgnc_id": 5542,
"hgvs_c": "n.*1150G>A",
"hgvs_p": null,
"transcript": "ENST00000676228.1",
"protein_id": "ENSP00000502375.1",
"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": 2603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "IGHMBP2",
"gene_hgnc_id": 5542,
"dbsnp": "rs541245852",
"frequency_reference_population": 0.00085493067,
"hom_count_reference_population": 18,
"allele_count_reference_population": 1380,
"gnomad_exomes_af": 0.000893396,
"gnomad_genomes_af": 0.000485794,
"gnomad_exomes_ac": 1306,
"gnomad_genomes_ac": 74,
"gnomad_exomes_homalt": 18,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.800000011920929,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.8,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -4.25,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000255078.8",
"gene_symbol": "IGHMBP2",
"hgnc_id": 5542,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1827G>A",
"hgvs_p": "p.Ala609Ala"
}
],
"clinvar_disease": "Autosomal recessive distal spinal muscular atrophy 1,Charcot-Marie-Tooth disease,Charcot-Marie-Tooth disease axonal type 2S,IGHMBP2-related disorder,Inborn genetic diseases,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:4",
"phenotype_combined": "Autosomal recessive distal spinal muscular atrophy 1|Autosomal recessive distal spinal muscular atrophy 1;Charcot-Marie-Tooth disease axonal type 2S|Charcot-Marie-Tooth disease|not provided|IGHMBP2-related disorder|Inborn genetic diseases",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}