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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: 12-8648140-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=8648140&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 8648140,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_003480.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFAP5",
"gene_hgnc_id": 29673,
"hgvs_c": "c.473G>A",
"hgvs_p": "p.Arg158Gln",
"transcript": "NM_003480.4",
"protein_id": "NP_003471.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 173,
"cds_start": 473,
"cds_end": null,
"cds_length": 522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000359478.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003480.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFAP5",
"gene_hgnc_id": 29673,
"hgvs_c": "c.473G>A",
"hgvs_p": "p.Arg158Gln",
"transcript": "ENST00000359478.7",
"protein_id": "ENSP00000352455.2",
"transcript_support_level": 1,
"aa_start": 158,
"aa_end": null,
"aa_length": 173,
"cds_start": 473,
"cds_end": null,
"cds_length": 522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003480.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359478.7"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFAP5",
"gene_hgnc_id": 29673,
"hgvs_c": "c.530G>A",
"hgvs_p": "p.Arg177Gln",
"transcript": "ENST00000856658.1",
"protein_id": "ENSP00000526717.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 192,
"cds_start": 530,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856658.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFAP5",
"gene_hgnc_id": 29673,
"hgvs_c": "c.473G>A",
"hgvs_p": "p.Arg158Gln",
"transcript": "ENST00000856657.1",
"protein_id": "ENSP00000526716.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 173,
"cds_start": 473,
"cds_end": null,
"cds_length": 522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856657.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFAP5",
"gene_hgnc_id": 29673,
"hgvs_c": "c.473G>A",
"hgvs_p": "p.Arg158Gln",
"transcript": "ENST00000952197.1",
"protein_id": "ENSP00000622256.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 173,
"cds_start": 473,
"cds_end": null,
"cds_length": 522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952197.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFAP5",
"gene_hgnc_id": 29673,
"hgvs_c": "c.443G>A",
"hgvs_p": "p.Arg148Gln",
"transcript": "NM_001297709.2",
"protein_id": "NP_001284638.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 163,
"cds_start": 443,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297709.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFAP5",
"gene_hgnc_id": 29673,
"hgvs_c": "c.443G>A",
"hgvs_p": "p.Arg148Gln",
"transcript": "ENST00000396549.6",
"protein_id": "ENSP00000379798.2",
"transcript_support_level": 2,
"aa_start": 148,
"aa_end": null,
"aa_length": 163,
"cds_start": 443,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396549.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFAP5",
"gene_hgnc_id": 29673,
"hgvs_c": "c.443G>A",
"hgvs_p": "p.Arg148Gln",
"transcript": "ENST00000952198.1",
"protein_id": "ENSP00000622257.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 163,
"cds_start": 443,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952198.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFAP5",
"gene_hgnc_id": 29673,
"hgvs_c": "c.440G>A",
"hgvs_p": "p.Arg147Gln",
"transcript": "ENST00000535411.5",
"protein_id": "ENSP00000441185.1",
"transcript_support_level": 4,
"aa_start": 147,
"aa_end": null,
"aa_length": 162,
"cds_start": 440,
"cds_end": null,
"cds_length": 489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535411.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFAP5",
"gene_hgnc_id": 29673,
"hgvs_c": "c.437G>A",
"hgvs_p": "p.Arg146Gln",
"transcript": "ENST00000952199.1",
"protein_id": "ENSP00000622258.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 161,
"cds_start": 437,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952199.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFAP5",
"gene_hgnc_id": 29673,
"hgvs_c": "c.407G>A",
"hgvs_p": "p.Arg136Gln",
"transcript": "NM_001297710.2",
"protein_id": "NP_001284639.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 151,
"cds_start": 407,
"cds_end": null,
"cds_length": 456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297710.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFAP5",
"gene_hgnc_id": 29673,
"hgvs_c": "c.407G>A",
"hgvs_p": "p.Arg136Gln",
"transcript": "ENST00000543369.5",
"protein_id": "ENSP00000441492.1",
"transcript_support_level": 3,
"aa_start": 136,
"aa_end": null,
"aa_length": 151,
"cds_start": 407,
"cds_end": null,
"cds_length": 456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543369.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFAP5",
"gene_hgnc_id": 29673,
"hgvs_c": "c.398G>A",
"hgvs_p": "p.Arg133Gln",
"transcript": "NM_001297711.2",
"protein_id": "NP_001284640.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 148,
"cds_start": 398,
"cds_end": null,
"cds_length": 447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297711.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFAP5",
"gene_hgnc_id": 29673,
"hgvs_c": "c.398G>A",
"hgvs_p": "p.Arg133Gln",
"transcript": "ENST00000433590.6",
"protein_id": "ENSP00000411997.2",
"transcript_support_level": 2,
"aa_start": 133,
"aa_end": null,
"aa_length": 148,
"cds_start": 398,
"cds_end": null,
"cds_length": 447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433590.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFAP5",
"gene_hgnc_id": 29673,
"hgvs_c": "c.350G>A",
"hgvs_p": "p.Arg117Gln",
"transcript": "ENST00000952200.1",
"protein_id": "ENSP00000622259.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 132,
"cds_start": 350,
"cds_end": null,
"cds_length": 399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952200.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFAP5",
"gene_hgnc_id": 29673,
"hgvs_c": "c.281G>A",
"hgvs_p": "p.Arg94Gln",
"transcript": "NM_001297712.2",
"protein_id": "NP_001284641.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 109,
"cds_start": 281,
"cds_end": null,
"cds_length": 330,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297712.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFAP5",
"gene_hgnc_id": 29673,
"hgvs_c": "c.281G>A",
"hgvs_p": "p.Arg94Gln",
"transcript": "ENST00000535336.5",
"protein_id": "ENSP00000438525.1",
"transcript_support_level": 4,
"aa_start": 94,
"aa_end": null,
"aa_length": 109,
"cds_start": 281,
"cds_end": null,
"cds_length": 330,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535336.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFAP5",
"gene_hgnc_id": 29673,
"hgvs_c": "c.191G>A",
"hgvs_p": "p.Arg64Gln",
"transcript": "ENST00000543467.5",
"protein_id": "ENSP00000444531.1",
"transcript_support_level": 3,
"aa_start": 64,
"aa_end": null,
"aa_length": 79,
"cds_start": 191,
"cds_end": null,
"cds_length": 240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543467.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFAP5",
"gene_hgnc_id": 29673,
"hgvs_c": "n.*125G>A",
"hgvs_p": null,
"transcript": "ENST00000537009.5",
"protein_id": "ENSP00000439289.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000537009.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFAP5",
"gene_hgnc_id": 29673,
"hgvs_c": "n.432G>A",
"hgvs_p": null,
"transcript": "ENST00000538694.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000538694.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFAP5",
"gene_hgnc_id": 29673,
"hgvs_c": "n.*125G>A",
"hgvs_p": null,
"transcript": "ENST00000544211.5",
"protein_id": "ENSP00000443839.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000544211.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFAP5",
"gene_hgnc_id": 29673,
"hgvs_c": "n.744G>A",
"hgvs_p": null,
"transcript": "NR_123733.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_123733.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFAP5",
"gene_hgnc_id": 29673,
"hgvs_c": "n.714G>A",
"hgvs_p": null,
"transcript": "NR_123734.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_123734.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFAP5",
"gene_hgnc_id": 29673,
"hgvs_c": "n.*125G>A",
"hgvs_p": null,
"transcript": "ENST00000537009.5",
"protein_id": "ENSP00000439289.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000537009.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFAP5",
"gene_hgnc_id": 29673,
"hgvs_c": "n.*125G>A",
"hgvs_p": null,
"transcript": "ENST00000544211.5",
"protein_id": "ENSP00000443839.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000544211.5"
}
],
"gene_symbol": "MFAP5",
"gene_hgnc_id": 29673,
"dbsnp": "rs934344533",
"frequency_reference_population": 0.000011153798,
"hom_count_reference_population": 0,
"allele_count_reference_population": 18,
"gnomad_exomes_af": 0.0000102619,
"gnomad_genomes_af": 0.000019727,
"gnomad_exomes_ac": 15,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0794304609298706,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.011,
"revel_prediction": "Benign",
"alphamissense_score": 0.1019,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.443,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_003480.4",
"gene_symbol": "MFAP5",
"hgnc_id": 29673,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.473G>A",
"hgvs_p": "p.Arg158Gln"
}
],
"clinvar_disease": "Cardiovascular phenotype,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not provided|Cardiovascular phenotype",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}