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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: 2-85363163-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=85363163&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 85363163,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_032213.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMOD3",
"gene_hgnc_id": 26158,
"hgvs_c": "c.196C>T",
"hgvs_p": "p.Arg66Cys",
"transcript": "NM_001135022.2",
"protein_id": "NP_001128494.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 381,
"cds_start": 196,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000409013.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135022.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMOD3",
"gene_hgnc_id": 26158,
"hgvs_c": "c.196C>T",
"hgvs_p": "p.Arg66Cys",
"transcript": "ENST00000409013.8",
"protein_id": "ENSP00000387139.3",
"transcript_support_level": 1,
"aa_start": 66,
"aa_end": null,
"aa_length": 381,
"cds_start": 196,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001135022.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409013.8"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMOD3",
"gene_hgnc_id": 26158,
"hgvs_c": "c.196C>T",
"hgvs_p": "p.Arg66Cys",
"transcript": "ENST00000315658.11",
"protein_id": "ENSP00000318264.7",
"transcript_support_level": 1,
"aa_start": 66,
"aa_end": null,
"aa_length": 391,
"cds_start": 196,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000315658.11"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMOD3",
"gene_hgnc_id": 26158,
"hgvs_c": "c.196C>T",
"hgvs_p": "p.Arg66Cys",
"transcript": "ENST00000393852.8",
"protein_id": "ENSP00000377434.4",
"transcript_support_level": 1,
"aa_start": 66,
"aa_end": null,
"aa_length": 381,
"cds_start": 196,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393852.8"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMOD3",
"gene_hgnc_id": 26158,
"hgvs_c": "n.196C>T",
"hgvs_p": null,
"transcript": "ENST00000410106.5",
"protein_id": "ENSP00000387134.1",
"transcript_support_level": 1,
"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": "ENST00000410106.5"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMOD3",
"gene_hgnc_id": 26158,
"hgvs_c": "n.196C>T",
"hgvs_p": null,
"transcript": "ENST00000414593.5",
"protein_id": "ENSP00000394774.1",
"transcript_support_level": 1,
"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": "ENST00000414593.5"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMOD3",
"gene_hgnc_id": 26158,
"hgvs_c": "n.196C>T",
"hgvs_p": null,
"transcript": "ENST00000444108.7",
"protein_id": "ENSP00000401984.2",
"transcript_support_level": 1,
"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": "ENST00000444108.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMOD3",
"gene_hgnc_id": 26158,
"hgvs_c": "n.196C>T",
"hgvs_p": null,
"transcript": "ENST00000446464.7",
"protein_id": "ENSP00000407599.3",
"transcript_support_level": 1,
"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": "ENST00000446464.7"
},
{
"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": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ELMOD3",
"gene_hgnc_id": 26158,
"hgvs_c": "n.129+903C>T",
"hgvs_p": null,
"transcript": "ENST00000429764.5",
"protein_id": "ENSP00000408329.1",
"transcript_support_level": 1,
"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": "ENST00000429764.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMOD3",
"gene_hgnc_id": 26158,
"hgvs_c": "c.196C>T",
"hgvs_p": "p.Arg66Cys",
"transcript": "NM_032213.5",
"protein_id": "NP_115589.2",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 391,
"cds_start": 196,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032213.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMOD3",
"gene_hgnc_id": 26158,
"hgvs_c": "c.196C>T",
"hgvs_p": "p.Arg66Cys",
"transcript": "NM_001135021.2",
"protein_id": "NP_001128493.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 381,
"cds_start": 196,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135021.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMOD3",
"gene_hgnc_id": 26158,
"hgvs_c": "c.196C>T",
"hgvs_p": "p.Arg66Cys",
"transcript": "NM_001135023.2",
"protein_id": "NP_001128495.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 381,
"cds_start": 196,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135023.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMOD3",
"gene_hgnc_id": 26158,
"hgvs_c": "c.196C>T",
"hgvs_p": "p.Arg66Cys",
"transcript": "NM_001329791.2",
"protein_id": "NP_001316720.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 381,
"cds_start": 196,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329791.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMOD3",
"gene_hgnc_id": 26158,
"hgvs_c": "c.196C>T",
"hgvs_p": "p.Arg66Cys",
"transcript": "NM_001329792.2",
"protein_id": "NP_001316721.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 381,
"cds_start": 196,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329792.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMOD3",
"gene_hgnc_id": 26158,
"hgvs_c": "c.196C>T",
"hgvs_p": "p.Arg66Cys",
"transcript": "NM_001329793.2",
"protein_id": "NP_001316722.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 381,
"cds_start": 196,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329793.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMOD3",
"gene_hgnc_id": 26158,
"hgvs_c": "c.196C>T",
"hgvs_p": "p.Arg66Cys",
"transcript": "ENST00000409344.7",
"protein_id": "ENSP00000386248.3",
"transcript_support_level": 2,
"aa_start": 66,
"aa_end": null,
"aa_length": 381,
"cds_start": 196,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409344.7"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMOD3",
"gene_hgnc_id": 26158,
"hgvs_c": "c.196C>T",
"hgvs_p": "p.Arg66Cys",
"transcript": "ENST00000409890.6",
"protein_id": "ENSP00000386304.2",
"transcript_support_level": 5,
"aa_start": 66,
"aa_end": null,
"aa_length": 381,
"cds_start": 196,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409890.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMOD3",
"gene_hgnc_id": 26158,
"hgvs_c": "c.196C>T",
"hgvs_p": "p.Arg66Cys",
"transcript": "ENST00000893328.1",
"protein_id": "ENSP00000563387.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 381,
"cds_start": 196,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893328.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMOD3",
"gene_hgnc_id": 26158,
"hgvs_c": "c.196C>T",
"hgvs_p": "p.Arg66Cys",
"transcript": "ENST00000893329.1",
"protein_id": "ENSP00000563388.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 381,
"cds_start": 196,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893329.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMOD3",
"gene_hgnc_id": 26158,
"hgvs_c": "c.196C>T",
"hgvs_p": "p.Arg66Cys",
"transcript": "ENST00000893330.1",
"protein_id": "ENSP00000563389.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 381,
"cds_start": 196,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893330.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMOD3",
"gene_hgnc_id": 26158,
"hgvs_c": "c.196C>T",
"hgvs_p": "p.Arg66Cys",
"transcript": "ENST00000893331.1",
"protein_id": "ENSP00000563390.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 381,
"cds_start": 196,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893331.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMOD3",
"gene_hgnc_id": 26158,
"hgvs_c": "c.196C>T",
"hgvs_p": "p.Arg66Cys",
"transcript": "ENST00000893332.1",
"protein_id": "ENSP00000563391.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 381,
"cds_start": 196,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893332.1"
},
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"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMOD3",
"gene_hgnc_id": 26158,
"hgvs_c": "n.926C>T",
"hgvs_p": null,
"transcript": "NR_138132.2",
"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_138132.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ELMOD3",
"gene_hgnc_id": 26158,
"hgvs_c": "n.489C>T",
"hgvs_p": null,
"transcript": "NR_138133.2",
"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_138133.2"
},
{
"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": "ELMOD3",
"gene_hgnc_id": 26158,
"hgvs_c": "n.129+903C>T",
"hgvs_p": null,
"transcript": "ENST00000440462.5",
"protein_id": "ENSP00000398264.1",
"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": "ENST00000440462.5"
},
{
"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": 4,
"intron_rank_end": null,
"gene_symbol": "ELMOD3",
"gene_hgnc_id": 26158,
"hgvs_c": "n.466+903C>T",
"hgvs_p": null,
"transcript": "ENST00000476734.5",
"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": "ENST00000476734.5"
}
],
"gene_symbol": "ELMOD3",
"gene_hgnc_id": 26158,
"dbsnp": "rs7564372",
"frequency_reference_population": 0.031607278,
"hom_count_reference_population": 1544,
"allele_count_reference_population": 50614,
"gnomad_exomes_af": 0.0284106,
"gnomad_genomes_af": 0.0620361,
"gnomad_exomes_ac": 41170,
"gnomad_genomes_ac": 9444,
"gnomad_exomes_homalt": 981,
"gnomad_genomes_homalt": 563,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0013865530490875244,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.14000000059604645,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.041,
"revel_prediction": "Benign",
"alphamissense_score": 0.0874,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.031,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.14,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_032213.5",
"gene_symbol": "ELMOD3",
"hgnc_id": 26158,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.196C>T",
"hgvs_p": "p.Arg66Cys"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}