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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: 1-44806082-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=44806082&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 44806082,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001013632.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNLT4",
"gene_hgnc_id": 32315,
"hgvs_c": "c.587G>A",
"hgvs_p": "p.Arg196His",
"transcript": "NM_001377534.1",
"protein_id": "NP_001364463.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 221,
"cds_start": 587,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000339355.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377534.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNLT4",
"gene_hgnc_id": 32315,
"hgvs_c": "c.587G>A",
"hgvs_p": "p.Arg196His",
"transcript": "ENST00000339355.3",
"protein_id": "ENSP00000341803.2",
"transcript_support_level": 6,
"aa_start": 196,
"aa_end": null,
"aa_length": 221,
"cds_start": 587,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001377534.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000339355.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNLT4",
"gene_hgnc_id": 32315,
"hgvs_c": "c.587G>A",
"hgvs_p": "p.Arg196His",
"transcript": "NM_001013632.4",
"protein_id": "NP_001013654.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 221,
"cds_start": 587,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001013632.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNLT4",
"gene_hgnc_id": 32315,
"hgvs_c": "c.587G>A",
"hgvs_p": "p.Arg196His",
"transcript": "NM_001377535.1",
"protein_id": "NP_001364464.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 221,
"cds_start": 587,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377535.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNLT4",
"gene_hgnc_id": 32315,
"hgvs_c": "c.587G>A",
"hgvs_p": "p.Arg196His",
"transcript": "NM_001377536.1",
"protein_id": "NP_001364465.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 221,
"cds_start": 587,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377536.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNLT4",
"gene_hgnc_id": 32315,
"hgvs_c": "c.587G>A",
"hgvs_p": "p.Arg196His",
"transcript": "ENST00000675259.1",
"protein_id": "ENSP00000501642.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 221,
"cds_start": 587,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675259.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNLT4",
"gene_hgnc_id": 32315,
"hgvs_c": "c.587G>A",
"hgvs_p": "p.Arg196His",
"transcript": "ENST00000854447.1",
"protein_id": "ENSP00000524506.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 221,
"cds_start": 587,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854447.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNLT4",
"gene_hgnc_id": 32315,
"hgvs_c": "c.587G>A",
"hgvs_p": "p.Arg196His",
"transcript": "ENST00000854448.1",
"protein_id": "ENSP00000524507.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 221,
"cds_start": 587,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854448.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNLT4",
"gene_hgnc_id": 32315,
"hgvs_c": "c.587G>A",
"hgvs_p": "p.Arg196His",
"transcript": "ENST00000854449.1",
"protein_id": "ENSP00000524508.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 221,
"cds_start": 587,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854449.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNLT4",
"gene_hgnc_id": 32315,
"hgvs_c": "c.587G>A",
"hgvs_p": "p.Arg196His",
"transcript": "ENST00000854450.1",
"protein_id": "ENSP00000524509.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 221,
"cds_start": 587,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854450.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNLT4",
"gene_hgnc_id": 32315,
"hgvs_c": "c.587G>A",
"hgvs_p": "p.Arg196His",
"transcript": "ENST00000854451.1",
"protein_id": "ENSP00000524510.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 221,
"cds_start": 587,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854451.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNLT4",
"gene_hgnc_id": 32315,
"hgvs_c": "c.587G>A",
"hgvs_p": "p.Arg196His",
"transcript": "ENST00000854452.1",
"protein_id": "ENSP00000524511.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 221,
"cds_start": 587,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854452.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNLT4",
"gene_hgnc_id": 32315,
"hgvs_c": "c.587G>A",
"hgvs_p": "p.Arg196His",
"transcript": "ENST00000854453.1",
"protein_id": "ENSP00000524512.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 221,
"cds_start": 587,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854453.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNLT4",
"gene_hgnc_id": 32315,
"hgvs_c": "c.587G>A",
"hgvs_p": "p.Arg196His",
"transcript": "ENST00000942935.1",
"protein_id": "ENSP00000612994.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 221,
"cds_start": 587,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942935.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNLT4",
"gene_hgnc_id": 32315,
"hgvs_c": "c.587G>A",
"hgvs_p": "p.Arg196His",
"transcript": "ENST00000942936.1",
"protein_id": "ENSP00000612995.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 221,
"cds_start": 587,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942936.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNLT4",
"gene_hgnc_id": 32315,
"hgvs_c": "c.587G>A",
"hgvs_p": "p.Arg196His",
"transcript": "XM_047419617.1",
"protein_id": "XP_047275573.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 221,
"cds_start": 587,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419617.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNLT4",
"gene_hgnc_id": 32315,
"hgvs_c": "c.587G>A",
"hgvs_p": "p.Arg196His",
"transcript": "XM_047419618.1",
"protein_id": "XP_047275574.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 221,
"cds_start": 587,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419618.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNLT4",
"gene_hgnc_id": 32315,
"hgvs_c": "c.587G>A",
"hgvs_p": "p.Arg196His",
"transcript": "XM_047419619.1",
"protein_id": "XP_047275575.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 221,
"cds_start": 587,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419619.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLK3",
"gene_hgnc_id": 2154,
"hgvs_c": "c.*404C>T",
"hgvs_p": null,
"transcript": "NM_004073.4",
"protein_id": "NP_004064.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 646,
"cds_start": null,
"cds_end": null,
"cds_length": 1941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000372201.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004073.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLK3",
"gene_hgnc_id": 2154,
"hgvs_c": "c.*404C>T",
"hgvs_p": null,
"transcript": "ENST00000372201.5",
"protein_id": "ENSP00000361275.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 646,
"cds_start": null,
"cds_end": null,
"cds_length": 1941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004073.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372201.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLK3",
"gene_hgnc_id": 2154,
"hgvs_c": "c.*404C>T",
"hgvs_p": null,
"transcript": "ENST00000854219.1",
"protein_id": "ENSP00000524278.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 654,
"cds_start": null,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854219.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLK3",
"gene_hgnc_id": 2154,
"hgvs_c": "c.*404C>T",
"hgvs_p": null,
"transcript": "ENST00000850614.1",
"protein_id": "ENSP00000520901.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 646,
"cds_start": null,
"cds_end": null,
"cds_length": 1941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000850614.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLK3",
"gene_hgnc_id": 2154,
"hgvs_c": "c.*404C>T",
"hgvs_p": null,
"transcript": "ENST00000942821.1",
"protein_id": "ENSP00000612880.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 643,
"cds_start": null,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942821.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLK3",
"gene_hgnc_id": 2154,
"hgvs_c": "c.*404C>T",
"hgvs_p": null,
"transcript": "ENST00000854220.1",
"protein_id": "ENSP00000524279.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 607,
"cds_start": null,
"cds_end": null,
"cds_length": 1824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854220.1"
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLK3",
"gene_hgnc_id": 2154,
"hgvs_c": "n.*92C>T",
"hgvs_p": null,
"transcript": "ENST00000465443.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000465443.5"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLK3",
"gene_hgnc_id": 2154,
"hgvs_c": "n.*132C>T",
"hgvs_p": null,
"transcript": "ENST00000492398.5",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000492398.5"
}
],
"gene_symbol": "DYNLT4",
"gene_hgnc_id": 32315,
"dbsnp": "rs369909566",
"frequency_reference_population": 0.000019929648,
"hom_count_reference_population": 0,
"allele_count_reference_population": 32,
"gnomad_exomes_af": 0.0000199528,
"gnomad_genomes_af": 0.0000197083,
"gnomad_exomes_ac": 29,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.13580793142318726,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.016,
"revel_prediction": "Benign",
"alphamissense_score": 0.0762,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.74,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.453,
"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": 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": "NM_001013632.4",
"gene_symbol": "DYNLT4",
"hgnc_id": 32315,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.587G>A",
"hgvs_p": "p.Arg196His"
},
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_004073.4",
"gene_symbol": "PLK3",
"hgnc_id": 2154,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.*404C>T",
"hgvs_p": null
}
],
"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
}