← Back to variant description
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: 21-32412984-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=32412984&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 32412984,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_058187.5",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1C",
"gene_hgnc_id": 13239,
"hgvs_c": "c.131A>T",
"hgvs_p": "p.Lys44Ile",
"transcript": "NM_058187.5",
"protein_id": "NP_478067.2",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 441,
"cds_start": 131,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 279,
"cdna_end": null,
"cdna_length": 1671,
"mane_select": "ENST00000300255.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1C",
"gene_hgnc_id": 13239,
"hgvs_c": "c.131A>T",
"hgvs_p": "p.Lys44Ile",
"transcript": "ENST00000300255.7",
"protein_id": "ENSP00000300255.2",
"transcript_support_level": 1,
"aa_start": 44,
"aa_end": null,
"aa_length": 441,
"cds_start": 131,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 279,
"cdna_end": null,
"cdna_length": 1671,
"mane_select": "NM_058187.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1C",
"gene_hgnc_id": 13239,
"hgvs_c": "c.131A>T",
"hgvs_p": "p.Lys44Ile",
"transcript": "ENST00000382699.7",
"protein_id": "ENSP00000372146.3",
"transcript_support_level": 1,
"aa_start": 44,
"aa_end": null,
"aa_length": 438,
"cds_start": 131,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 283,
"cdna_end": null,
"cdna_length": 1668,
"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": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1C",
"gene_hgnc_id": 13239,
"hgvs_c": "n.131A>T",
"hgvs_p": null,
"transcript": "ENST00000437338.5",
"protein_id": "ENSP00000389291.1",
"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": 1745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1C",
"gene_hgnc_id": 13239,
"hgvs_c": "c.131A>T",
"hgvs_p": "p.Lys44Ile",
"transcript": "NM_001286556.2",
"protein_id": "NP_001273485.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 438,
"cds_start": 131,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 279,
"cdna_end": null,
"cdna_length": 1662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1C",
"gene_hgnc_id": 13239,
"hgvs_c": "c.131A>T",
"hgvs_p": "p.Lys44Ile",
"transcript": "ENST00000401402.7",
"protein_id": "ENSP00000384594.3",
"transcript_support_level": 5,
"aa_start": 44,
"aa_end": null,
"aa_length": 393,
"cds_start": 131,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 300,
"cdna_end": null,
"cdna_length": 1558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1C",
"gene_hgnc_id": 13239,
"hgvs_c": "c.131A>T",
"hgvs_p": "p.Lys44Ile",
"transcript": "NM_001320744.2",
"protein_id": "NP_001307673.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 334,
"cds_start": 131,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 279,
"cdna_end": null,
"cdna_length": 1350,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1C",
"gene_hgnc_id": 13239,
"hgvs_c": "c.131A>T",
"hgvs_p": "p.Lys44Ile",
"transcript": "XM_006724038.4",
"protein_id": "XP_006724101.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 440,
"cds_start": 131,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 279,
"cdna_end": null,
"cdna_length": 1668,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1C",
"gene_hgnc_id": 13239,
"hgvs_c": "c.131A>T",
"hgvs_p": "p.Lys44Ile",
"transcript": "XM_017028418.2",
"protein_id": "XP_016883907.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 440,
"cds_start": 131,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 279,
"cdna_end": null,
"cdna_length": 1668,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1C",
"gene_hgnc_id": 13239,
"hgvs_c": "c.131A>T",
"hgvs_p": "p.Lys44Ile",
"transcript": "XM_047440933.1",
"protein_id": "XP_047296889.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 437,
"cds_start": 131,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 279,
"cdna_end": null,
"cdna_length": 1659,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1C",
"gene_hgnc_id": 13239,
"hgvs_c": "c.131A>T",
"hgvs_p": "p.Lys44Ile",
"transcript": "XM_017028419.2",
"protein_id": "XP_016883908.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 414,
"cds_start": 131,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 279,
"cdna_end": null,
"cdna_length": 1590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1C",
"gene_hgnc_id": 13239,
"hgvs_c": "c.131A>T",
"hgvs_p": "p.Lys44Ile",
"transcript": "XM_005261019.5",
"protein_id": "XP_005261076.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 384,
"cds_start": 131,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 279,
"cdna_end": null,
"cdna_length": 1500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1C",
"gene_hgnc_id": 13239,
"hgvs_c": "c.131A>T",
"hgvs_p": "p.Lys44Ile",
"transcript": "XM_017028422.2",
"protein_id": "XP_016883911.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 331,
"cds_start": 131,
"cds_end": null,
"cds_length": 996,
"cdna_start": 279,
"cdna_end": null,
"cdna_length": 1341,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1C",
"gene_hgnc_id": 13239,
"hgvs_c": "c.131A>T",
"hgvs_p": "p.Lys44Ile",
"transcript": "XM_017028423.2",
"protein_id": "XP_016883912.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 307,
"cds_start": 131,
"cds_end": null,
"cds_length": 924,
"cdna_start": 279,
"cdna_end": null,
"cdna_length": 1269,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1C",
"gene_hgnc_id": 13239,
"hgvs_c": "c.131A>T",
"hgvs_p": "p.Lys44Ile",
"transcript": "XM_047440934.1",
"protein_id": "XP_047296890.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 299,
"cds_start": 131,
"cds_end": null,
"cds_length": 900,
"cdna_start": 279,
"cdna_end": null,
"cdna_length": 1228,
"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": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1C",
"gene_hgnc_id": 13239,
"hgvs_c": "n.131A>T",
"hgvs_p": null,
"transcript": "ENST00000435323.5",
"protein_id": "ENSP00000407190.1",
"transcript_support_level": 5,
"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": 1601,
"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": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1C",
"gene_hgnc_id": 13239,
"hgvs_c": "n.131A>T",
"hgvs_p": null,
"transcript": "ENST00000457807.5",
"protein_id": "ENSP00000401547.1",
"transcript_support_level": 5,
"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": 1548,
"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": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1C",
"gene_hgnc_id": 13239,
"hgvs_c": "n.979A>T",
"hgvs_p": null,
"transcript": "ENST00000469079.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 1689,
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1C",
"gene_hgnc_id": 13239,
"hgvs_c": "n.221A>T",
"hgvs_p": null,
"transcript": "ENST00000481638.1",
"protein_id": null,
"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": 384,
"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": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1C",
"gene_hgnc_id": 13239,
"hgvs_c": "n.279A>T",
"hgvs_p": null,
"transcript": "NR_104472.2",
"protein_id": null,
"transcript_support_level": null,
"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": 1465,
"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": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1C",
"gene_hgnc_id": 13239,
"hgvs_c": "n.279A>T",
"hgvs_p": null,
"transcript": "NR_135467.2",
"protein_id": null,
"transcript_support_level": null,
"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": 1714,
"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": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1C",
"gene_hgnc_id": 13239,
"hgvs_c": "n.279A>T",
"hgvs_p": null,
"transcript": "XR_001754885.2",
"protein_id": null,
"transcript_support_level": null,
"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": 1073,
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EVA1C",
"gene_hgnc_id": 13239,
"hgvs_c": "c.-126+791A>T",
"hgvs_p": null,
"transcript": "NM_001320745.2",
"protein_id": "NP_001307674.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 346,
"cds_start": -4,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1834,
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EVA1C",
"gene_hgnc_id": 13239,
"hgvs_c": "n.152+791A>T",
"hgvs_p": null,
"transcript": "ENST00000459833.5",
"protein_id": null,
"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": 687,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "CFAP298-TCP10L",
"gene_hgnc_id": 54636,
"hgvs_c": "n.*325-10004T>A",
"hgvs_p": null,
"transcript": "ENST00000673740.1",
"protein_id": "ENSP00000501042.1",
"transcript_support_level": null,
"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": 1369,
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EVA1C",
"gene_hgnc_id": 13239,
"hgvs_c": "c.-276+791A>T",
"hgvs_p": null,
"transcript": "XM_017028420.2",
"protein_id": "XP_016883909.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 346,
"cds_start": -4,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "EVA1C",
"gene_hgnc_id": 13239,
"dbsnp": "rs777470526",
"frequency_reference_population": 7.4864084e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.48641e-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": 0.14525774121284485,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.099,
"revel_prediction": "Benign",
"alphamissense_score": 0.5134,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.424,
"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_058187.5",
"gene_symbol": "EVA1C",
"hgnc_id": 13239,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.131A>T",
"hgvs_p": "p.Lys44Ile"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000673740.1",
"gene_symbol": "CFAP298-TCP10L",
"hgnc_id": 54636,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*325-10004T>A",
"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
}