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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: 2-240560865-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=240560865&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 240560865,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001308375.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUSP28",
"gene_hgnc_id": 33237,
"hgvs_c": "c.181C>T",
"hgvs_p": "p.Pro61Ser",
"transcript": "NM_001370465.2",
"protein_id": "NP_001357394.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 176,
"cds_start": 181,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000405954.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370465.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUSP28",
"gene_hgnc_id": 33237,
"hgvs_c": "c.181C>T",
"hgvs_p": "p.Pro61Ser",
"transcript": "ENST00000405954.2",
"protein_id": "ENSP00000385885.2",
"transcript_support_level": 1,
"aa_start": 61,
"aa_end": null,
"aa_length": 176,
"cds_start": 181,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001370465.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405954.2"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKMY1",
"gene_hgnc_id": 20987,
"hgvs_c": "c.86G>A",
"hgvs_p": "p.Gly29Asp",
"transcript": "ENST00000403283.6",
"protein_id": "ENSP00000383968.1",
"transcript_support_level": 1,
"aa_start": 29,
"aa_end": null,
"aa_length": 843,
"cds_start": 86,
"cds_end": null,
"cds_length": 2532,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000403283.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKMY1",
"gene_hgnc_id": 20987,
"hgvs_c": "n.581G>A",
"hgvs_p": null,
"transcript": "ENST00000464991.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000464991.5"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKMY1",
"gene_hgnc_id": 20987,
"hgvs_c": "c.86G>A",
"hgvs_p": "p.Gly29Asp",
"transcript": "NM_001308375.4",
"protein_id": "NP_001295304.3",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 843,
"cds_start": 86,
"cds_end": null,
"cds_length": 2532,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308375.4"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUSP28",
"gene_hgnc_id": 33237,
"hgvs_c": "c.181C>T",
"hgvs_p": "p.Pro61Ser",
"transcript": "NM_001033575.1",
"protein_id": "NP_001028747.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 176,
"cds_start": 181,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001033575.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUSP28",
"gene_hgnc_id": 33237,
"hgvs_c": "c.181C>T",
"hgvs_p": "p.Pro61Ser",
"transcript": "ENST00000343217.6",
"protein_id": "ENSP00000344235.2",
"transcript_support_level": 2,
"aa_start": 61,
"aa_end": null,
"aa_length": 176,
"cds_start": 181,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000343217.6"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKMY1",
"gene_hgnc_id": 20987,
"hgvs_c": "c.86G>A",
"hgvs_p": "p.Gly29Asp",
"transcript": "XM_047444649.1",
"protein_id": "XP_047300605.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 1111,
"cds_start": 86,
"cds_end": null,
"cds_length": 3336,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444649.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKMY1",
"gene_hgnc_id": 20987,
"hgvs_c": "c.86G>A",
"hgvs_p": "p.Gly29Asp",
"transcript": "XM_047444650.1",
"protein_id": "XP_047300606.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 1109,
"cds_start": 86,
"cds_end": null,
"cds_length": 3330,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444650.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKMY1",
"gene_hgnc_id": 20987,
"hgvs_c": "c.86G>A",
"hgvs_p": "p.Gly29Asp",
"transcript": "XM_047444651.1",
"protein_id": "XP_047300607.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 1075,
"cds_start": 86,
"cds_end": null,
"cds_length": 3228,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444651.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKMY1",
"gene_hgnc_id": 20987,
"hgvs_c": "c.86G>A",
"hgvs_p": "p.Gly29Asp",
"transcript": "XM_047444652.1",
"protein_id": "XP_047300608.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 1073,
"cds_start": 86,
"cds_end": null,
"cds_length": 3222,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444652.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKMY1",
"gene_hgnc_id": 20987,
"hgvs_c": "c.86G>A",
"hgvs_p": "p.Gly29Asp",
"transcript": "XM_047444653.1",
"protein_id": "XP_047300609.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 1064,
"cds_start": 86,
"cds_end": null,
"cds_length": 3195,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444653.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKMY1",
"gene_hgnc_id": 20987,
"hgvs_c": "c.86G>A",
"hgvs_p": "p.Gly29Asp",
"transcript": "XM_047444654.1",
"protein_id": "XP_047300610.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 1062,
"cds_start": 86,
"cds_end": null,
"cds_length": 3189,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444654.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKMY1",
"gene_hgnc_id": 20987,
"hgvs_c": "c.86G>A",
"hgvs_p": "p.Gly29Asp",
"transcript": "XM_047444655.1",
"protein_id": "XP_047300611.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 1042,
"cds_start": 86,
"cds_end": null,
"cds_length": 3129,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444655.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKMY1",
"gene_hgnc_id": 20987,
"hgvs_c": "c.86G>A",
"hgvs_p": "p.Gly29Asp",
"transcript": "XM_047444656.1",
"protein_id": "XP_047300612.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 1038,
"cds_start": 86,
"cds_end": null,
"cds_length": 3117,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444656.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKMY1",
"gene_hgnc_id": 20987,
"hgvs_c": "c.86G>A",
"hgvs_p": "p.Gly29Asp",
"transcript": "XM_047444657.1",
"protein_id": "XP_047300613.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 1028,
"cds_start": 86,
"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_047444657.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKMY1",
"gene_hgnc_id": 20987,
"hgvs_c": "c.86G>A",
"hgvs_p": "p.Gly29Asp",
"transcript": "XM_047444658.1",
"protein_id": "XP_047300614.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 1026,
"cds_start": 86,
"cds_end": null,
"cds_length": 3081,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444658.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKMY1",
"gene_hgnc_id": 20987,
"hgvs_c": "c.86G>A",
"hgvs_p": "p.Gly29Asp",
"transcript": "XM_047444659.1",
"protein_id": "XP_047300615.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 1021,
"cds_start": 86,
"cds_end": null,
"cds_length": 3066,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444659.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKMY1",
"gene_hgnc_id": 20987,
"hgvs_c": "c.86G>A",
"hgvs_p": "p.Gly29Asp",
"transcript": "XM_047444660.1",
"protein_id": "XP_047300616.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 1006,
"cds_start": 86,
"cds_end": null,
"cds_length": 3021,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444660.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKMY1",
"gene_hgnc_id": 20987,
"hgvs_c": "c.86G>A",
"hgvs_p": "p.Gly29Asp",
"transcript": "XM_047444662.1",
"protein_id": "XP_047300618.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 985,
"cds_start": 86,
"cds_end": null,
"cds_length": 2958,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444662.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKMY1",
"gene_hgnc_id": 20987,
"hgvs_c": "c.86G>A",
"hgvs_p": "p.Gly29Asp",
"transcript": "XM_047444663.1",
"protein_id": "XP_047300619.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 984,
"cds_start": 86,
"cds_end": null,
"cds_length": 2955,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444663.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKMY1",
"gene_hgnc_id": 20987,
"hgvs_c": "c.86G>A",
"hgvs_p": "p.Gly29Asp",
"transcript": "XM_047444664.1",
"protein_id": "XP_047300620.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 974,
"cds_start": 86,
"cds_end": null,
"cds_length": 2925,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444664.1"
},
{
"aa_ref": "G",
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"gene_hgnc_id": 20987,
"hgvs_c": "n.-76G>A",
"hgvs_p": null,
"transcript": "NR_171696.1",
"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_171696.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKMY1",
"gene_hgnc_id": 20987,
"hgvs_c": "n.-76G>A",
"hgvs_p": null,
"transcript": "NR_171697.1",
"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_171697.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKMY1",
"gene_hgnc_id": 20987,
"hgvs_c": "n.-76G>A",
"hgvs_p": null,
"transcript": "NR_171698.1",
"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_171698.1"
}
],
"gene_symbol": "ANKMY1",
"gene_hgnc_id": 20987,
"dbsnp": "rs560521658",
"frequency_reference_population": 0.00003667114,
"hom_count_reference_population": 0,
"allele_count_reference_population": 50,
"gnomad_exomes_af": 0.0000378554,
"gnomad_genomes_af": 0.0000269687,
"gnomad_exomes_ac": 46,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04337555170059204,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.105,
"revel_prediction": "Benign",
"alphamissense_score": 0.1003,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.488,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001308375.4",
"gene_symbol": "ANKMY1",
"hgnc_id": 20987,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.86G>A",
"hgvs_p": "p.Gly29Asp"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001033575.1",
"gene_symbol": "DUSP28",
"hgnc_id": 33237,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.181C>T",
"hgvs_p": "p.Pro61Ser"
}
],
"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
}