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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: 16-14218964-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=14218964&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 14218964,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001308142.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRTFB",
"gene_hgnc_id": 29819,
"hgvs_c": "c.659C>T",
"hgvs_p": "p.Ser220Leu",
"transcript": "NM_001308142.2",
"protein_id": "NP_001295071.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 1099,
"cds_start": 659,
"cds_end": null,
"cds_length": 3300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000571589.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308142.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRTFB",
"gene_hgnc_id": 29819,
"hgvs_c": "c.659C>T",
"hgvs_p": "p.Ser220Leu",
"transcript": "ENST00000571589.6",
"protein_id": "ENSP00000459626.2",
"transcript_support_level": 2,
"aa_start": 220,
"aa_end": null,
"aa_length": 1099,
"cds_start": 659,
"cds_end": null,
"cds_length": 3300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001308142.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000571589.6"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRTFB",
"gene_hgnc_id": 29819,
"hgvs_c": "c.659C>T",
"hgvs_p": "p.Ser220Leu",
"transcript": "ENST00000574045.5",
"protein_id": "ENSP00000459205.1",
"transcript_support_level": 1,
"aa_start": 220,
"aa_end": null,
"aa_length": 1049,
"cds_start": 659,
"cds_end": null,
"cds_length": 3150,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000574045.5"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRTFB",
"gene_hgnc_id": 29819,
"hgvs_c": "c.506C>T",
"hgvs_p": "p.Ser169Leu",
"transcript": "ENST00000573051.1",
"protein_id": "ENSP00000460589.1",
"transcript_support_level": 1,
"aa_start": 169,
"aa_end": null,
"aa_length": 378,
"cds_start": 506,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000573051.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRTFB",
"gene_hgnc_id": 29819,
"hgvs_c": "c.659C>T",
"hgvs_p": "p.Ser220Leu",
"transcript": "ENST00000910537.1",
"protein_id": "ENSP00000580596.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 1099,
"cds_start": 659,
"cds_end": null,
"cds_length": 3300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910537.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRTFB",
"gene_hgnc_id": 29819,
"hgvs_c": "c.659C>T",
"hgvs_p": "p.Ser220Leu",
"transcript": "ENST00000910539.1",
"protein_id": "ENSP00000580598.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 1099,
"cds_start": 659,
"cds_end": null,
"cds_length": 3300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910539.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRTFB",
"gene_hgnc_id": 29819,
"hgvs_c": "c.659C>T",
"hgvs_p": "p.Ser220Leu",
"transcript": "ENST00000910540.1",
"protein_id": "ENSP00000580599.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 1099,
"cds_start": 659,
"cds_end": null,
"cds_length": 3300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910540.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRTFB",
"gene_hgnc_id": 29819,
"hgvs_c": "c.659C>T",
"hgvs_p": "p.Ser220Leu",
"transcript": "ENST00000910541.1",
"protein_id": "ENSP00000580600.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 1099,
"cds_start": 659,
"cds_end": null,
"cds_length": 3300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910541.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRTFB",
"gene_hgnc_id": 29819,
"hgvs_c": "c.659C>T",
"hgvs_p": "p.Ser220Leu",
"transcript": "ENST00000932862.1",
"protein_id": "ENSP00000602921.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 1099,
"cds_start": 659,
"cds_end": null,
"cds_length": 3300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932862.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRTFB",
"gene_hgnc_id": 29819,
"hgvs_c": "c.659C>T",
"hgvs_p": "p.Ser220Leu",
"transcript": "ENST00000932864.1",
"protein_id": "ENSP00000602923.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 1099,
"cds_start": 659,
"cds_end": null,
"cds_length": 3300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932864.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRTFB",
"gene_hgnc_id": 29819,
"hgvs_c": "c.659C>T",
"hgvs_p": "p.Ser220Leu",
"transcript": "ENST00000932867.1",
"protein_id": "ENSP00000602927.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 1099,
"cds_start": 659,
"cds_end": null,
"cds_length": 3300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932867.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRTFB",
"gene_hgnc_id": 29819,
"hgvs_c": "c.626C>T",
"hgvs_p": "p.Ser209Leu",
"transcript": "NM_001365411.2",
"protein_id": "NP_001352340.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 1088,
"cds_start": 626,
"cds_end": null,
"cds_length": 3267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365411.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRTFB",
"gene_hgnc_id": 29819,
"hgvs_c": "c.659C>T",
"hgvs_p": "p.Ser220Leu",
"transcript": "NM_001365412.2",
"protein_id": "NP_001352341.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 1053,
"cds_start": 659,
"cds_end": null,
"cds_length": 3162,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365412.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRTFB",
"gene_hgnc_id": 29819,
"hgvs_c": "c.659C>T",
"hgvs_p": "p.Ser220Leu",
"transcript": "ENST00000932863.1",
"protein_id": "ENSP00000602922.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 1053,
"cds_start": 659,
"cds_end": null,
"cds_length": 3162,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932863.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRTFB",
"gene_hgnc_id": 29819,
"hgvs_c": "c.659C>T",
"hgvs_p": "p.Ser220Leu",
"transcript": "ENST00000932866.1",
"protein_id": "ENSP00000602924.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 1053,
"cds_start": 659,
"cds_end": null,
"cds_length": 3162,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932866.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRTFB",
"gene_hgnc_id": 29819,
"hgvs_c": "c.659C>T",
"hgvs_p": "p.Ser220Leu",
"transcript": "NM_014048.4",
"protein_id": "NP_054767.3",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 1049,
"cds_start": 659,
"cds_end": null,
"cds_length": 3150,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014048.4"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRTFB",
"gene_hgnc_id": 29819,
"hgvs_c": "c.659C>T",
"hgvs_p": "p.Ser220Leu",
"transcript": "ENST00000318282.9",
"protein_id": "ENSP00000339086.4",
"transcript_support_level": 5,
"aa_start": 220,
"aa_end": null,
"aa_length": 1049,
"cds_start": 659,
"cds_end": null,
"cds_length": 3150,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000318282.9"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRTFB",
"gene_hgnc_id": 29819,
"hgvs_c": "c.659C>T",
"hgvs_p": "p.Ser220Leu",
"transcript": "ENST00000910538.1",
"protein_id": "ENSP00000580597.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 1049,
"cds_start": 659,
"cds_end": null,
"cds_length": 3150,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910538.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRTFB",
"gene_hgnc_id": 29819,
"hgvs_c": "c.446C>T",
"hgvs_p": "p.Ser149Leu",
"transcript": "NM_001365413.2",
"protein_id": "NP_001352342.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 1028,
"cds_start": 446,
"cds_end": null,
"cds_length": 3087,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365413.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRTFB",
"gene_hgnc_id": 29819,
"hgvs_c": "c.446C>T",
"hgvs_p": "p.Ser149Leu",
"transcript": "NM_001365414.2",
"protein_id": "NP_001352343.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 978,
"cds_start": 446,
"cds_end": null,
"cds_length": 2937,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365414.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRTFB",
"gene_hgnc_id": 29819,
"hgvs_c": "c.626C>T",
"hgvs_p": "p.Ser209Leu",
"transcript": "NM_001365415.2",
"protein_id": "NP_001352344.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 369,
"cds_start": 626,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365415.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRTFB",
"gene_hgnc_id": 29819,
"hgvs_c": "c.626C>T",
"hgvs_p": "p.Ser209Leu",
"transcript": "ENST00000572567.5",
"protein_id": "ENSP00000459879.1",
"transcript_support_level": 2,
"aa_start": 209,
"aa_end": null,
"aa_length": 369,
"cds_start": 626,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
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"cds_length": 3117,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017023504.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
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"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRTFB",
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"hgvs_c": "c.446C>T",
"hgvs_p": "p.Ser149Leu",
"transcript": "XM_011522569.3",
"protein_id": "XP_011520871.1",
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"aa_start": 149,
"aa_end": null,
"aa_length": 1028,
"cds_start": 446,
"cds_end": null,
"cds_length": 3087,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522569.3"
},
{
"aa_ref": "S",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
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"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRTFB",
"gene_hgnc_id": 29819,
"hgvs_c": "c.446C>T",
"hgvs_p": "p.Ser149Leu",
"transcript": "XM_047434404.1",
"protein_id": "XP_047290360.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 1028,
"cds_start": 446,
"cds_end": null,
"cds_length": 3087,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434404.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRTFB",
"gene_hgnc_id": 29819,
"hgvs_c": "c.659C>T",
"hgvs_p": "p.Ser220Leu",
"transcript": "XM_047434405.1",
"protein_id": "XP_047290361.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 1003,
"cds_start": 659,
"cds_end": null,
"cds_length": 3012,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434405.1"
}
],
"gene_symbol": "MRTFB",
"gene_hgnc_id": 29819,
"dbsnp": "rs116509814",
"frequency_reference_population": 0.00003407725,
"hom_count_reference_population": 0,
"allele_count_reference_population": 55,
"gnomad_exomes_af": 0.0000198393,
"gnomad_genomes_af": 0.000170787,
"gnomad_exomes_ac": 29,
"gnomad_genomes_ac": 26,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03176829218864441,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.049,
"revel_prediction": "Benign",
"alphamissense_score": 0.0636,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.112,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.06,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001308142.2",
"gene_symbol": "MRTFB",
"hgnc_id": 29819,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.659C>T",
"hgvs_p": "p.Ser220Leu"
}
],
"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
}