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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: 12-101670340-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=101670340&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 101670340,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000361466.7",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.2544T>C",
"hgvs_p": "p.Ile848Ile",
"transcript": "NM_002465.4",
"protein_id": "NP_002456.2",
"transcript_support_level": null,
"aa_start": 848,
"aa_end": null,
"aa_length": 1171,
"cds_start": 2544,
"cds_end": null,
"cds_length": 3516,
"cdna_start": 2644,
"cdna_end": null,
"cdna_length": 4082,
"mane_select": "ENST00000361466.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.2544T>C",
"hgvs_p": "p.Ile848Ile",
"transcript": "ENST00000361466.7",
"protein_id": "ENSP00000354849.2",
"transcript_support_level": 1,
"aa_start": 848,
"aa_end": null,
"aa_length": 1171,
"cds_start": 2544,
"cds_end": null,
"cds_length": 3516,
"cdna_start": 2644,
"cdna_end": null,
"cdna_length": 4082,
"mane_select": "NM_002465.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.2544T>C",
"hgvs_p": "p.Ile848Ile",
"transcript": "ENST00000361685.6",
"protein_id": "ENSP00000354845.2",
"transcript_support_level": 1,
"aa_start": 848,
"aa_end": null,
"aa_length": 1148,
"cds_start": 2544,
"cds_end": null,
"cds_length": 3447,
"cdna_start": 2644,
"cdna_end": null,
"cdna_length": 3871,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.2469T>C",
"hgvs_p": "p.Ile823Ile",
"transcript": "ENST00000545503.6",
"protein_id": "ENSP00000440034.2",
"transcript_support_level": 1,
"aa_start": 823,
"aa_end": null,
"aa_length": 1146,
"cds_start": 2469,
"cds_end": null,
"cds_length": 3441,
"cdna_start": 2544,
"cdna_end": null,
"cdna_length": 3569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.2433T>C",
"hgvs_p": "p.Ile811Ile",
"transcript": "ENST00000541119.5",
"protein_id": "ENSP00000442847.1",
"transcript_support_level": 1,
"aa_start": 811,
"aa_end": null,
"aa_length": 1134,
"cds_start": 2433,
"cds_end": null,
"cds_length": 3405,
"cdna_start": 2508,
"cdna_end": null,
"cdna_length": 3533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.2412T>C",
"hgvs_p": "p.Ile804Ile",
"transcript": "ENST00000536007.5",
"protein_id": "ENSP00000446128.1",
"transcript_support_level": 1,
"aa_start": 804,
"aa_end": null,
"aa_length": 1127,
"cds_start": 2412,
"cds_end": null,
"cds_length": 3384,
"cdna_start": 2487,
"cdna_end": null,
"cdna_length": 3512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.2469T>C",
"hgvs_p": "p.Ile823Ile",
"transcript": "ENST00000553190.5",
"protein_id": "ENSP00000447900.1",
"transcript_support_level": 1,
"aa_start": 823,
"aa_end": null,
"aa_length": 1123,
"cds_start": 2469,
"cds_end": null,
"cds_length": 3372,
"cdna_start": 2556,
"cdna_end": null,
"cdna_length": 3777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.2391T>C",
"hgvs_p": "p.Ile797Ile",
"transcript": "ENST00000547405.5",
"protein_id": "ENSP00000448175.1",
"transcript_support_level": 1,
"aa_start": 797,
"aa_end": null,
"aa_length": 1120,
"cds_start": 2391,
"cds_end": null,
"cds_length": 3363,
"cdna_start": 2613,
"cdna_end": null,
"cdna_length": 3834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.2172T>C",
"hgvs_p": "p.Ile724Ile",
"transcript": "ENST00000551300.5",
"protein_id": "ENSP00000447116.1",
"transcript_support_level": 1,
"aa_start": 724,
"aa_end": null,
"aa_length": 1024,
"cds_start": 2172,
"cds_end": null,
"cds_length": 3075,
"cdna_start": 2714,
"cdna_end": null,
"cdna_length": 3934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.2544T>C",
"hgvs_p": "p.Ile848Ile",
"transcript": "NM_001404675.1",
"protein_id": "NP_001391604.1",
"transcript_support_level": null,
"aa_start": 848,
"aa_end": null,
"aa_length": 1177,
"cds_start": 2544,
"cds_end": null,
"cds_length": 3534,
"cdna_start": 2644,
"cdna_end": null,
"cdna_length": 3822,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.2523T>C",
"hgvs_p": "p.Ile841Ile",
"transcript": "NM_001254718.3",
"protein_id": "NP_001241647.1",
"transcript_support_level": null,
"aa_start": 841,
"aa_end": null,
"aa_length": 1173,
"cds_start": 2523,
"cds_end": null,
"cds_length": 3522,
"cdna_start": 2623,
"cdna_end": null,
"cdna_length": 3860,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.2523T>C",
"hgvs_p": "p.Ile841Ile",
"transcript": "ENST00000452455.6",
"protein_id": "ENSP00000400908.2",
"transcript_support_level": 2,
"aa_start": 841,
"aa_end": null,
"aa_length": 1173,
"cds_start": 2523,
"cds_end": null,
"cds_length": 3522,
"cdna_start": 2625,
"cdna_end": null,
"cdna_length": 3861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.2562T>C",
"hgvs_p": "p.Ile854Ile",
"transcript": "ENST00000549145.5",
"protein_id": "ENSP00000447660.1",
"transcript_support_level": 5,
"aa_start": 854,
"aa_end": null,
"aa_length": 1154,
"cds_start": 2562,
"cds_end": null,
"cds_length": 3465,
"cdna_start": 2662,
"cdna_end": null,
"cdna_length": 4031,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.2544T>C",
"hgvs_p": "p.Ile848Ile",
"transcript": "NM_206819.4",
"protein_id": "NP_996555.1",
"transcript_support_level": null,
"aa_start": 848,
"aa_end": null,
"aa_length": 1148,
"cds_start": 2544,
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"cdna_start": 2644,
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"cdna_length": 3865,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.2469T>C",
"hgvs_p": "p.Ile823Ile",
"transcript": "NM_001254719.3",
"protein_id": "NP_001241648.1",
"transcript_support_level": null,
"aa_start": 823,
"aa_end": null,
"aa_length": 1146,
"cds_start": 2469,
"cds_end": null,
"cds_length": 3441,
"cdna_start": 2569,
"cdna_end": null,
"cdna_length": 3849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.2523T>C",
"hgvs_p": "p.Ile841Ile",
"transcript": "NM_206820.4",
"protein_id": "NP_996556.1",
"transcript_support_level": null,
"aa_start": 841,
"aa_end": null,
"aa_length": 1141,
"cds_start": 2523,
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"cdna_start": 2623,
"cdna_end": null,
"cdna_length": 3844,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.2523T>C",
"hgvs_p": "p.Ile841Ile",
"transcript": "ENST00000550270.1",
"protein_id": "ENSP00000449702.1",
"transcript_support_level": 5,
"aa_start": 841,
"aa_end": null,
"aa_length": 1141,
"cds_start": 2523,
"cds_end": null,
"cds_length": 3426,
"cdna_start": 2523,
"cdna_end": null,
"cdna_length": 3426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.2430T>C",
"hgvs_p": "p.Ile810Ile",
"transcript": "NM_001254723.3",
"protein_id": "NP_001241652.1",
"transcript_support_level": null,
"aa_start": 810,
"aa_end": null,
"aa_length": 1139,
"cds_start": 2430,
"cds_end": null,
"cds_length": 3420,
"cdna_start": 2530,
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"cdna_length": 3708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.2430T>C",
"hgvs_p": "p.Ile810Ile",
"transcript": "ENST00000392934.7",
"protein_id": "ENSP00000376665.3",
"transcript_support_level": 2,
"aa_start": 810,
"aa_end": null,
"aa_length": 1139,
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"cdna_start": 2530,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.2433T>C",
"hgvs_p": "p.Ile811Ile",
"transcript": "NM_001254720.3",
"protein_id": "NP_001241649.1",
"transcript_support_level": null,
"aa_start": 811,
"aa_end": null,
"aa_length": 1134,
"cds_start": 2433,
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"cdna_start": 2533,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.2412T>C",
"hgvs_p": "p.Ile804Ile",
"transcript": "NM_001404676.1",
"protein_id": "NP_001391605.1",
"transcript_support_level": null,
"aa_start": 804,
"aa_end": null,
"aa_length": 1133,
"cds_start": 2412,
"cds_end": null,
"cds_length": 3402,
"cdna_start": 2512,
"cdna_end": null,
"cdna_length": 3690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.2427T>C",
"hgvs_p": "p.Ile809Ile",
"transcript": "ENST00000547509.5",
"protein_id": "ENSP00000447362.1",
"transcript_support_level": 5,
"aa_start": 809,
"aa_end": null,
"aa_length": 1132,
"cds_start": 2427,
"cds_end": null,
"cds_length": 3399,
"cdna_start": 2527,
"cdna_end": null,
"cdna_length": 3749,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
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"transcript": "ENST00000548532.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 440,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "c.-403T>C",
"hgvs_p": null,
"transcript": "ENST00000549608.1",
"protein_id": "ENSP00000501089.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 195,
"cds_start": -4,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1902,
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"hgvs_c": "n.575-12264T>C",
"hgvs_p": null,
"transcript": "ENST00000550501.3",
"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": 975,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MYBPC1",
"gene_hgnc_id": 7549,
"dbsnp": "rs7139095",
"frequency_reference_population": 0.95202035,
"hom_count_reference_population": 731518,
"allele_count_reference_population": 1536418,
"gnomad_exomes_af": 0.952019,
"gnomad_genomes_af": 0.952037,
"gnomad_exomes_ac": 1391438,
"gnomad_genomes_ac": 144980,
"gnomad_exomes_homalt": 662465,
"gnomad_genomes_homalt": 69053,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6000000238418579,
"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": -0.6,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.458,
"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,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000361466.7",
"gene_symbol": "MYBPC1",
"hgnc_id": 7549,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.2544T>C",
"hgvs_p": "p.Ile848Ile"
}
],
"clinvar_disease": " congenital, distal, type 1B, with tremor,Arthrogryposis,Lethal congenital contracture syndrome 4,Myopathy,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:8",
"phenotype_combined": "not specified|Arthrogryposis, distal, type 1B|not provided|Myopathy, congenital, with tremor|Lethal congenital contracture syndrome 4",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}