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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: 1-156232418-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=156232418&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 156232418,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000368277.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMF1",
"gene_hgnc_id": 9112,
"hgvs_c": "c.260C>A",
"hgvs_p": "p.Ser87Tyr",
"transcript": "NM_007221.4",
"protein_id": "NP_009152.2",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 205,
"cds_start": 260,
"cds_end": null,
"cds_length": 618,
"cdna_start": 269,
"cdna_end": null,
"cdna_length": 1068,
"mane_select": "ENST00000368277.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMF1",
"gene_hgnc_id": 9112,
"hgvs_c": "c.260C>A",
"hgvs_p": "p.Ser87Tyr",
"transcript": "ENST00000368277.3",
"protein_id": "ENSP00000357260.3",
"transcript_support_level": 1,
"aa_start": 87,
"aa_end": null,
"aa_length": 205,
"cds_start": 260,
"cds_end": null,
"cds_length": 618,
"cdna_start": 269,
"cdna_end": null,
"cdna_length": 1068,
"mane_select": "NM_007221.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMF1-BGLAP",
"gene_hgnc_id": 42953,
"hgvs_c": "c.260C>A",
"hgvs_p": "p.Ser87Tyr",
"transcript": "ENST00000490491.5",
"protein_id": "ENSP00000475561.1",
"transcript_support_level": 2,
"aa_start": 87,
"aa_end": null,
"aa_length": 211,
"cds_start": 260,
"cds_end": null,
"cds_length": 636,
"cdna_start": 294,
"cdna_end": null,
"cdna_length": 1007,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMF1-BGLAP",
"gene_hgnc_id": 42953,
"hgvs_c": "c.260C>A",
"hgvs_p": "p.Ser87Tyr",
"transcript": "ENST00000320139.5",
"protein_id": "ENSP00000324909.5",
"transcript_support_level": 1,
"aa_start": 87,
"aa_end": null,
"aa_length": 175,
"cds_start": 260,
"cds_end": null,
"cds_length": 528,
"cdna_start": 267,
"cdna_end": null,
"cdna_length": 773,
"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": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMF1",
"gene_hgnc_id": 9112,
"hgvs_c": "n.*626C>A",
"hgvs_p": null,
"transcript": "ENST00000466489.1",
"protein_id": "ENSP00000476770.1",
"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": 933,
"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": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMF1",
"gene_hgnc_id": 9112,
"hgvs_c": "n.*626C>A",
"hgvs_p": null,
"transcript": "ENST00000466489.1",
"protein_id": "ENSP00000476770.1",
"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": 933,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "PMF1",
"gene_hgnc_id": 9112,
"hgvs_c": "n.171-1210C>A",
"hgvs_p": null,
"transcript": "ENST00000606952.5",
"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": 1275,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMF1-BGLAP",
"gene_hgnc_id": 42953,
"hgvs_c": "c.260C>A",
"hgvs_p": "p.Ser87Tyr",
"transcript": "NM_001199661.1",
"protein_id": "NP_001186590.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 220,
"cds_start": 260,
"cds_end": null,
"cds_length": 663,
"cdna_start": 288,
"cdna_end": null,
"cdna_length": 940,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMF1-BGLAP",
"gene_hgnc_id": 42953,
"hgvs_c": "c.260C>A",
"hgvs_p": "p.Ser87Tyr",
"transcript": "ENST00000368276.8",
"protein_id": "ENSP00000357259.4",
"transcript_support_level": 3,
"aa_start": 87,
"aa_end": null,
"aa_length": 220,
"cds_start": 260,
"cds_end": null,
"cds_length": 663,
"cdna_start": 269,
"cdna_end": null,
"cdna_length": 852,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMF1-BGLAP",
"gene_hgnc_id": 42953,
"hgvs_c": "c.260C>A",
"hgvs_p": "p.Ser87Tyr",
"transcript": "NM_001199662.1",
"protein_id": "NP_001186591.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 211,
"cds_start": 260,
"cds_end": null,
"cds_length": 636,
"cdna_start": 288,
"cdna_end": null,
"cdna_length": 1001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMF1",
"gene_hgnc_id": 9112,
"hgvs_c": "c.260C>A",
"hgvs_p": "p.Ser87Tyr",
"transcript": "NM_001393909.1",
"protein_id": "NP_001380838.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 204,
"cds_start": 260,
"cds_end": null,
"cds_length": 615,
"cdna_start": 269,
"cdna_end": null,
"cdna_length": 1065,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMF1",
"gene_hgnc_id": 9112,
"hgvs_c": "c.260C>A",
"hgvs_p": "p.Ser87Tyr",
"transcript": "NM_001199653.2",
"protein_id": "NP_001186582.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 180,
"cds_start": 260,
"cds_end": null,
"cds_length": 543,
"cdna_start": 269,
"cdna_end": null,
"cdna_length": 1007,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMF1",
"gene_hgnc_id": 9112,
"hgvs_c": "c.260C>A",
"hgvs_p": "p.Ser87Tyr",
"transcript": "ENST00000368279.7",
"protein_id": "ENSP00000357262.3",
"transcript_support_level": 2,
"aa_start": 87,
"aa_end": null,
"aa_length": 180,
"cds_start": 260,
"cds_end": null,
"cds_length": 543,
"cdna_start": 283,
"cdna_end": null,
"cdna_length": 1019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMF1",
"gene_hgnc_id": 9112,
"hgvs_c": "c.260C>A",
"hgvs_p": "p.Ser87Tyr",
"transcript": "NM_001393911.1",
"protein_id": "NP_001380840.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 179,
"cds_start": 260,
"cds_end": null,
"cds_length": 540,
"cdna_start": 269,
"cdna_end": null,
"cdna_length": 1004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMF1-BGLAP",
"gene_hgnc_id": 42953,
"hgvs_c": "c.260C>A",
"hgvs_p": "p.Ser87Tyr",
"transcript": "NM_001199663.1",
"protein_id": "NP_001186592.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 175,
"cds_start": 260,
"cds_end": null,
"cds_length": 528,
"cdna_start": 288,
"cdna_end": null,
"cdna_length": 805,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMF1",
"gene_hgnc_id": 9112,
"hgvs_c": "c.260C>A",
"hgvs_p": "p.Ser87Tyr",
"transcript": "NM_001393912.1",
"protein_id": "NP_001380841.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 151,
"cds_start": 260,
"cds_end": null,
"cds_length": 456,
"cdna_start": 269,
"cdna_end": null,
"cdna_length": 906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMF1",
"gene_hgnc_id": 9112,
"hgvs_c": "c.260C>A",
"hgvs_p": "p.Ser87Tyr",
"transcript": "NM_001393913.1",
"protein_id": "NP_001380842.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 141,
"cds_start": 260,
"cds_end": null,
"cds_length": 426,
"cdna_start": 269,
"cdna_end": null,
"cdna_length": 876,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMF1",
"gene_hgnc_id": 9112,
"hgvs_c": "n.*81C>A",
"hgvs_p": null,
"transcript": "ENST00000497069.2",
"protein_id": "ENSP00000476760.1",
"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": 837,
"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": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMF1",
"gene_hgnc_id": 9112,
"hgvs_c": "n.*81C>A",
"hgvs_p": null,
"transcript": "ENST00000497069.2",
"protein_id": "ENSP00000476760.1",
"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,
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"cdna_length": 837,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PMF1",
"gene_hgnc_id": 9112,
"hgvs_c": "c.274-1210C>A",
"hgvs_p": null,
"transcript": "NM_001199654.2",
"protein_id": "NP_001186583.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 207,
"cds_start": -4,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PMF1",
"gene_hgnc_id": 9112,
"hgvs_c": "c.274-1210C>A",
"hgvs_p": null,
"transcript": "ENST00000368273.8",
"protein_id": "ENSP00000357256.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 207,
"cds_start": -4,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 884,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PMF1",
"gene_hgnc_id": 9112,
"hgvs_c": "c.274-1210C>A",
"hgvs_p": null,
"transcript": "NM_001393910.1",
"protein_id": "NP_001380839.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 182,
"cds_start": -4,
"cds_end": null,
"cds_length": 549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1013,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PMF1-BGLAP",
"gene_hgnc_id": 42953,
"hgvs_c": "c.162-3870C>A",
"hgvs_p": null,
"transcript": "NM_001199664.1",
"protein_id": "NP_001186593.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 142,
"cds_start": -4,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 794,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
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"gene_symbol": "PMF1-BGLAP",
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"hgvs_c": "c.162-3870C>A",
"hgvs_p": null,
"transcript": "ENST00000567140.3",
"protein_id": "ENSP00000458021.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 142,
"cds_start": -4,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 655,
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"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PMF1",
"gene_hgnc_id": 9112,
"hgvs_c": "c.162-3870C>A",
"hgvs_p": null,
"transcript": "NM_001393914.1",
"protein_id": "NP_001380843.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 136,
"cds_start": -4,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PMF1",
"gene_hgnc_id": 9112,
"hgvs_c": "c.162-3931C>A",
"hgvs_p": null,
"transcript": "NM_001393915.1",
"protein_id": "NP_001380844.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 111,
"cds_start": -4,
"cds_end": null,
"cds_length": 336,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PMF1",
"gene_hgnc_id": 9112,
"dbsnp": "rs532329234",
"frequency_reference_population": 6.841986e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84199e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.25161945819854736,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.238,
"revel_prediction": "Benign",
"alphamissense_score": 0.3625,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.12,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.597,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000368277.3",
"gene_symbol": "PMF1",
"hgnc_id": 9112,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.260C>A",
"hgvs_p": "p.Ser87Tyr"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000490491.5",
"gene_symbol": "PMF1-BGLAP",
"hgnc_id": 42953,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.260C>A",
"hgvs_p": "p.Ser87Tyr"
}
],
"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
}