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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: 4-153358575-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=153358575&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 153358575,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_032117.4",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MND1",
"gene_hgnc_id": 24839,
"hgvs_c": "c.229A>G",
"hgvs_p": "p.Lys77Glu",
"transcript": "NM_032117.4",
"protein_id": "NP_115493.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 205,
"cds_start": 229,
"cds_end": null,
"cds_length": 618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000240488.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032117.4"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MND1",
"gene_hgnc_id": 24839,
"hgvs_c": "c.229A>G",
"hgvs_p": "p.Lys77Glu",
"transcript": "ENST00000240488.8",
"protein_id": "ENSP00000240488.3",
"transcript_support_level": 1,
"aa_start": 77,
"aa_end": null,
"aa_length": 205,
"cds_start": 229,
"cds_end": null,
"cds_length": 618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032117.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000240488.8"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288637",
"gene_hgnc_id": null,
"hgvs_c": "c.2308A>G",
"hgvs_p": "p.Lys770Glu",
"transcript": "ENST00000675838.1",
"protein_id": "ENSP00000501593.1",
"transcript_support_level": null,
"aa_start": 770,
"aa_end": null,
"aa_length": 898,
"cds_start": 2308,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675838.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MND1",
"gene_hgnc_id": 24839,
"hgvs_c": "c.184A>G",
"hgvs_p": "p.Lys62Glu",
"transcript": "ENST00000504860.2",
"protein_id": "ENSP00000422933.1",
"transcript_support_level": 1,
"aa_start": 62,
"aa_end": null,
"aa_length": 165,
"cds_start": 184,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000504860.2"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288637",
"gene_hgnc_id": null,
"hgvs_c": "c.2320A>G",
"hgvs_p": "p.Lys774Glu",
"transcript": "ENST00000675079.1",
"protein_id": "ENSP00000502677.1",
"transcript_support_level": null,
"aa_start": 774,
"aa_end": null,
"aa_length": 902,
"cds_start": 2320,
"cds_end": null,
"cds_length": 2709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675079.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288637",
"gene_hgnc_id": null,
"hgvs_c": "c.2308A>G",
"hgvs_p": "p.Lys770Glu",
"transcript": "ENST00000674967.1",
"protein_id": "ENSP00000501627.1",
"transcript_support_level": null,
"aa_start": 770,
"aa_end": null,
"aa_length": 898,
"cds_start": 2308,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674967.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288637",
"gene_hgnc_id": null,
"hgvs_c": "c.1975A>G",
"hgvs_p": "p.Lys659Glu",
"transcript": "ENST00000675518.1",
"protein_id": "ENSP00000501852.1",
"transcript_support_level": null,
"aa_start": 659,
"aa_end": null,
"aa_length": 787,
"cds_start": 1975,
"cds_end": null,
"cds_length": 2364,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675518.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MND1",
"gene_hgnc_id": 24839,
"hgvs_c": "c.229A>G",
"hgvs_p": "p.Lys77Glu",
"transcript": "ENST00000940511.1",
"protein_id": "ENSP00000610570.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 229,
"cds_start": 229,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940511.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MND1",
"gene_hgnc_id": 24839,
"hgvs_c": "c.229A>G",
"hgvs_p": "p.Lys77Glu",
"transcript": "ENST00000940509.1",
"protein_id": "ENSP00000610568.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 218,
"cds_start": 229,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940509.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MND1",
"gene_hgnc_id": 24839,
"hgvs_c": "c.229A>G",
"hgvs_p": "p.Lys77Glu",
"transcript": "ENST00000902388.1",
"protein_id": "ENSP00000572447.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 190,
"cds_start": 229,
"cds_end": null,
"cds_length": 573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902388.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MND1",
"gene_hgnc_id": 24839,
"hgvs_c": "c.163A>G",
"hgvs_p": "p.Lys55Glu",
"transcript": "ENST00000940510.1",
"protein_id": "ENSP00000610569.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 183,
"cds_start": 163,
"cds_end": null,
"cds_length": 552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940510.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MND1",
"gene_hgnc_id": 24839,
"hgvs_c": "c.229A>G",
"hgvs_p": "p.Lys77Glu",
"transcript": "ENST00000940506.1",
"protein_id": "ENSP00000610565.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 180,
"cds_start": 229,
"cds_end": null,
"cds_length": 543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940506.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MND1",
"gene_hgnc_id": 24839,
"hgvs_c": "c.229A>G",
"hgvs_p": "p.Lys77Glu",
"transcript": "NM_001253861.1",
"protein_id": "NP_001240790.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 122,
"cds_start": 229,
"cds_end": null,
"cds_length": 369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001253861.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MND1",
"gene_hgnc_id": 24839,
"hgvs_c": "c.229A>G",
"hgvs_p": "p.Lys77Glu",
"transcript": "ENST00000622785.4",
"protein_id": "ENSP00000477758.1",
"transcript_support_level": 2,
"aa_start": 77,
"aa_end": null,
"aa_length": 122,
"cds_start": 229,
"cds_end": null,
"cds_length": 369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000622785.4"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MND1",
"gene_hgnc_id": 24839,
"hgvs_c": "c.184A>G",
"hgvs_p": "p.Lys62Glu",
"transcript": "ENST00000508731.5",
"protein_id": "ENSP00000425500.1",
"transcript_support_level": 3,
"aa_start": 62,
"aa_end": null,
"aa_length": 101,
"cds_start": 184,
"cds_end": null,
"cds_length": 306,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000508731.5"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MND1",
"gene_hgnc_id": 24839,
"hgvs_c": "c.229A>G",
"hgvs_p": "p.Lys77Glu",
"transcript": "XM_005263275.3",
"protein_id": "XP_005263332.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 190,
"cds_start": 229,
"cds_end": null,
"cds_length": 573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005263275.3"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MND1",
"gene_hgnc_id": 24839,
"hgvs_c": "c.229A>G",
"hgvs_p": "p.Lys77Glu",
"transcript": "XM_047416246.1",
"protein_id": "XP_047272202.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 126,
"cds_start": 229,
"cds_end": null,
"cds_length": 381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416246.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MND1",
"gene_hgnc_id": 24839,
"hgvs_c": "c.229A>G",
"hgvs_p": "p.Lys77Glu",
"transcript": "XM_047416247.1",
"protein_id": "XP_047272203.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 123,
"cds_start": 229,
"cds_end": null,
"cds_length": 372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416247.1"
},
{
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MND1",
"gene_hgnc_id": 24839,
"hgvs_c": "c.69+8446A>G",
"hgvs_p": null,
"transcript": "ENST00000940507.1",
"protein_id": "ENSP00000610566.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 136,
"cds_start": null,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940507.1"
},
{
"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": "MND1",
"gene_hgnc_id": 24839,
"hgvs_c": "c.3+13835A>G",
"hgvs_p": null,
"transcript": "ENST00000940508.1",
"protein_id": "ENSP00000610567.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 114,
"cds_start": null,
"cds_end": null,
"cds_length": 345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940508.1"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MND1",
"gene_hgnc_id": 24839,
"hgvs_c": "c.3+13835A>G",
"hgvs_p": null,
"transcript": "ENST00000940512.1",
"protein_id": "ENSP00000610571.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 99,
"cds_start": null,
"cds_end": null,
"cds_length": 300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940512.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MND1",
"gene_hgnc_id": 24839,
"hgvs_c": "n.229A>G",
"hgvs_p": null,
"transcript": "ENST00000509752.5",
"protein_id": "ENSP00000427559.1",
"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": "ENST00000509752.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288637",
"gene_hgnc_id": null,
"hgvs_c": "n.*1773A>G",
"hgvs_p": null,
"transcript": "ENST00000674680.1",
"protein_id": "ENSP00000502469.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000674680.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MND1",
"gene_hgnc_id": 24839,
"hgvs_c": "n.279A>G",
"hgvs_p": null,
"transcript": "NR_045605.2",
"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_045605.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288637",
"gene_hgnc_id": null,
"hgvs_c": "n.*1773A>G",
"hgvs_p": null,
"transcript": "ENST00000674680.1",
"protein_id": "ENSP00000502469.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000674680.1"
}
],
"gene_symbol": "MND1",
"gene_hgnc_id": 24839,
"dbsnp": null,
"frequency_reference_population": 0.0000013686631,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136866,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4927207827568054,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.338,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4857,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.14,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.814,
"phylop100way_prediction": "Pathogenic",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_032117.4",
"gene_symbol": "MND1",
"hgnc_id": 24839,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.229A>G",
"hgvs_p": "p.Lys77Glu"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000675838.1",
"gene_symbol": "ENSG00000288637",
"hgnc_id": null,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.2308A>G",
"hgvs_p": "p.Lys770Glu"
}
],
"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
}