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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: 1-156139089-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=156139089&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 156139089,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000368300.9",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.1978A>G",
"hgvs_p": "p.Asn660Asp",
"transcript": "NM_170707.4",
"protein_id": "NP_733821.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 664,
"cds_start": 1978,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 2186,
"cdna_end": null,
"cdna_length": 3178,
"mane_select": "ENST00000368300.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.1978A>G",
"hgvs_p": "p.Asn660Asp",
"transcript": "ENST00000368300.9",
"protein_id": "ENSP00000357283.4",
"transcript_support_level": 1,
"aa_start": 660,
"aa_end": null,
"aa_length": 664,
"cds_start": 1978,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 2186,
"cdna_end": null,
"cdna_length": 3178,
"mane_select": "NM_170707.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.1828A>G",
"hgvs_p": "p.Asn610Asp",
"transcript": "ENST00000368299.7",
"protein_id": "ENSP00000357282.3",
"transcript_support_level": 1,
"aa_start": 610,
"aa_end": null,
"aa_length": 614,
"cds_start": 1828,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 2025,
"cdna_end": null,
"cdna_length": 2253,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.1978A>G",
"hgvs_p": "p.Asn660Asp",
"transcript": "NM_001406985.1",
"protein_id": "NP_001393914.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 686,
"cds_start": 1978,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 2186,
"cdna_end": null,
"cdna_length": 2511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.1978A>G",
"hgvs_p": "p.Asn660Asp",
"transcript": "NM_001406983.1",
"protein_id": "NP_001393912.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 664,
"cds_start": 1978,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 2512,
"cdna_end": null,
"cdna_length": 3504,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.1978A>G",
"hgvs_p": "p.Asn660Asp",
"transcript": "NM_001406991.1",
"protein_id": "NP_001393920.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 664,
"cds_start": 1978,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 2292,
"cdna_end": null,
"cdna_length": 3284,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.1978A>G",
"hgvs_p": "p.Asn660Asp",
"transcript": "ENST00000361308.9",
"protein_id": "ENSP00000355292.6",
"transcript_support_level": 5,
"aa_start": 660,
"aa_end": null,
"aa_length": 664,
"cds_start": 1978,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 2261,
"cdna_end": null,
"cdna_length": 2465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.1978A>G",
"hgvs_p": "p.Asn660Asp",
"transcript": "ENST00000675939.1",
"protein_id": "ENSP00000502256.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 664,
"cds_start": 1978,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 2197,
"cdna_end": null,
"cdna_length": 2401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.1978A>G",
"hgvs_p": "p.Asn660Asp",
"transcript": "ENST00000683032.1",
"protein_id": "ENSP00000506771.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 664,
"cds_start": 1978,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 2193,
"cdna_end": null,
"cdna_length": 2329,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.1888A>G",
"hgvs_p": "p.Asn630Asp",
"transcript": "NM_170708.4",
"protein_id": "NP_733822.1",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 634,
"cds_start": 1888,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 2096,
"cdna_end": null,
"cdna_length": 3088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.1888A>G",
"hgvs_p": "p.Asn630Asp",
"transcript": "ENST00000676385.2",
"protein_id": "ENSP00000502091.1",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 634,
"cds_start": 1888,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 2729,
"cdna_end": null,
"cdna_length": 2811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.1888A>G",
"hgvs_p": "p.Asn630Asp",
"transcript": "ENST00000682650.1",
"protein_id": "ENSP00000506904.1",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 634,
"cds_start": 1888,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 2102,
"cdna_end": null,
"cdna_length": 2288,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.1828A>G",
"hgvs_p": "p.Asn610Asp",
"transcript": "NM_001282626.2",
"protein_id": "NP_001269555.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 614,
"cds_start": 1828,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 2036,
"cdna_end": null,
"cdna_length": 3028,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.1735A>G",
"hgvs_p": "p.Asn579Asp",
"transcript": "NM_001406986.1",
"protein_id": "NP_001393915.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 583,
"cds_start": 1735,
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"cdna_start": 2366,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.1735A>G",
"hgvs_p": "p.Asn579Asp",
"transcript": "NM_001406987.1",
"protein_id": "NP_001393916.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 583,
"cds_start": 1735,
"cds_end": null,
"cds_length": 1752,
"cdna_start": 1856,
"cdna_end": null,
"cdna_length": 2848,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.1642A>G",
"hgvs_p": "p.Asn548Asp",
"transcript": "NM_001257374.3",
"protein_id": "NP_001244303.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 574,
"cds_start": 1642,
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"cdna_start": 1676,
"cdna_end": null,
"cdna_length": 2001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.1642A>G",
"hgvs_p": "p.Asn548Asp",
"transcript": "ENST00000448611.6",
"protein_id": "ENSP00000395597.2",
"transcript_support_level": 2,
"aa_start": 548,
"aa_end": null,
"aa_length": 574,
"cds_start": 1642,
"cds_end": null,
"cds_length": 1725,
"cdna_start": 1686,
"cdna_end": null,
"cdna_length": 1943,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.1681A>G",
"hgvs_p": "p.Asn561Asp",
"transcript": "NM_001406988.1",
"protein_id": "NP_001393917.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 565,
"cds_start": 1681,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 1801,
"cdna_end": null,
"cdna_length": 2793,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.1681A>G",
"hgvs_p": "p.Asn561Asp",
"transcript": "ENST00000473598.6",
"protein_id": "ENSP00000421821.1",
"transcript_support_level": 2,
"aa_start": 561,
"aa_end": null,
"aa_length": 565,
"cds_start": 1681,
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"cdna_start": 1801,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.1642A>G",
"hgvs_p": "p.Asn548Asp",
"transcript": "NM_001406989.1",
"protein_id": "NP_001393918.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 552,
"cds_start": 1642,
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"cds_length": 1659,
"cdna_start": 1676,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.1420A>G",
"hgvs_p": "p.Asn474Asp",
"transcript": "NM_001406990.1",
"protein_id": "NP_001393919.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 500,
"cds_start": 1420,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 2029,
"cdna_end": null,
"cdna_length": 2354,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.1420A>G",
"hgvs_p": "p.Asn474Asp",
"transcript": "NM_001406993.1",
"protein_id": "NP_001393922.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 478,
"cds_start": 1420,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 1730,
"cdna_end": null,
"cdna_length": 2722,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.1354A>G",
"hgvs_p": "p.Asn452Asp",
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"hgvs_p": null,
"transcript": "ENST00000684195.1",
"protein_id": "ENSP00000508220.1",
"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": 3081,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "n.163+482A>G",
"hgvs_p": null,
"transcript": "ENST00000683773.1",
"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": 288,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "n.*2055A>G",
"hgvs_p": null,
"transcript": "ENST00000676434.1",
"protein_id": "ENSP00000501648.1",
"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": 3212,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"dbsnp": "rs374926367",
"frequency_reference_population": 0.000091102906,
"hom_count_reference_population": 0,
"allele_count_reference_population": 147,
"gnomad_exomes_af": 0.0000902993,
"gnomad_genomes_af": 0.0000988442,
"gnomad_exomes_ac": 132,
"gnomad_genomes_ac": 15,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.011655736714601517,
"computational_prediction_selected": "Benign",
"computational_source_selected": "CardioboostCm",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.305,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2015,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.11,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.351,
"phylop100way_prediction": "Uncertain_significance",
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000368300.9",
"gene_symbol": "LMNA",
"hgnc_id": 6636,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR,SD",
"hgvs_c": "c.1978A>G",
"hgvs_p": "p.Asn660Asp"
}
],
"clinvar_disease": "11 conditions,Cardiomyopathy,Cardiovascular phenotype,Charcot-Marie-Tooth disease type 2,Primary dilated cardiomyopathy,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:9 LB:1",
"phenotype_combined": "not provided|Cardiomyopathy|Charcot-Marie-Tooth disease type 2|11 conditions|Cardiovascular phenotype|Primary dilated cardiomyopathy",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}