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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: 16-4380944-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=4380944&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 4380944,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_138440.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VASN",
"gene_hgnc_id": 18517,
"hgvs_c": "c.67G>A",
"hgvs_p": "p.Gly23Ser",
"transcript": "NM_138440.3",
"protein_id": "NP_612449.2",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 673,
"cds_start": 67,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 222,
"cdna_end": null,
"cdna_length": 2816,
"mane_select": "ENST00000304735.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138440.3"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VASN",
"gene_hgnc_id": 18517,
"hgvs_c": "c.67G>A",
"hgvs_p": "p.Gly23Ser",
"transcript": "ENST00000304735.4",
"protein_id": "ENSP00000306864.3",
"transcript_support_level": 1,
"aa_start": 23,
"aa_end": null,
"aa_length": 673,
"cds_start": 67,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 222,
"cdna_end": null,
"cdna_length": 2816,
"mane_select": "NM_138440.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000304735.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CORO7",
"gene_hgnc_id": 26161,
"hgvs_c": "c.785+7042C>T",
"hgvs_p": null,
"transcript": "NM_024535.5",
"protein_id": "NP_078811.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 925,
"cds_start": null,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3472,
"mane_select": "ENST00000251166.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024535.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CORO7",
"gene_hgnc_id": 26161,
"hgvs_c": "c.785+7042C>T",
"hgvs_p": null,
"transcript": "ENST00000251166.9",
"protein_id": "ENSP00000251166.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 925,
"cds_start": null,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3472,
"mane_select": "NM_024535.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000251166.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CORO7-PAM16",
"gene_hgnc_id": 44424,
"hgvs_c": "c.785+7042C>T",
"hgvs_p": null,
"transcript": "ENST00000572467.5",
"protein_id": "ENSP00000460885.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1048,
"cds_start": null,
"cds_end": null,
"cds_length": 3147,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3284,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000572467.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VASN",
"gene_hgnc_id": 18517,
"hgvs_c": "c.67G>A",
"hgvs_p": "p.Gly23Ser",
"transcript": "ENST00000899068.1",
"protein_id": "ENSP00000569127.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 673,
"cds_start": 67,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 216,
"cdna_end": null,
"cdna_length": 2786,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899068.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VASN",
"gene_hgnc_id": 18517,
"hgvs_c": "c.67G>A",
"hgvs_p": "p.Gly23Ser",
"transcript": "ENST00000899069.1",
"protein_id": "ENSP00000569128.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 673,
"cds_start": 67,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 437,
"cdna_end": null,
"cdna_length": 3007,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899069.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VASN",
"gene_hgnc_id": 18517,
"hgvs_c": "c.67G>A",
"hgvs_p": "p.Gly23Ser",
"transcript": "ENST00000952355.1",
"protein_id": "ENSP00000622414.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 673,
"cds_start": 67,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 268,
"cdna_end": null,
"cdna_length": 2818,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952355.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CORO7-PAM16",
"gene_hgnc_id": 44424,
"hgvs_c": "c.785+7042C>T",
"hgvs_p": null,
"transcript": "NM_001201479.2",
"protein_id": "NP_001188408.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1048,
"cds_start": null,
"cds_end": null,
"cds_length": 3147,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3293,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001201479.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "CORO7",
"gene_hgnc_id": 26161,
"hgvs_c": "c.872+7042C>T",
"hgvs_p": null,
"transcript": "ENST00000898828.1",
"protein_id": "ENSP00000568887.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 954,
"cds_start": null,
"cds_end": null,
"cds_length": 2865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3560,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898828.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CORO7",
"gene_hgnc_id": 26161,
"hgvs_c": "c.785+7042C>T",
"hgvs_p": null,
"transcript": "ENST00000898827.1",
"protein_id": "ENSP00000568886.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 927,
"cds_start": null,
"cds_end": null,
"cds_length": 2784,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3479,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898827.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CORO7",
"gene_hgnc_id": 26161,
"hgvs_c": "c.731+7042C>T",
"hgvs_p": null,
"transcript": "NM_001201472.2",
"protein_id": "NP_001188401.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 907,
"cds_start": null,
"cds_end": null,
"cds_length": 2724,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3418,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001201472.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CORO7",
"gene_hgnc_id": 26161,
"hgvs_c": "c.731+7042C>T",
"hgvs_p": null,
"transcript": "ENST00000537233.6",
"protein_id": "ENSP00000440460.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 907,
"cds_start": null,
"cds_end": null,
"cds_length": 2724,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3392,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537233.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CORO7",
"gene_hgnc_id": 26161,
"hgvs_c": "c.785+7042C>T",
"hgvs_p": null,
"transcript": "ENST00000898829.1",
"protein_id": "ENSP00000568888.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 894,
"cds_start": null,
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"cds_length": 2685,
"cdna_start": null,
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"cdna_length": 3375,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898829.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CORO7",
"gene_hgnc_id": 26161,
"hgvs_c": "c.530+7042C>T",
"hgvs_p": null,
"transcript": "NM_001201473.2",
"protein_id": "NP_001188402.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 840,
"cds_start": null,
"cds_end": null,
"cds_length": 2523,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3217,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001201473.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CORO7",
"gene_hgnc_id": 26161,
"hgvs_c": "c.530+7042C>T",
"hgvs_p": null,
"transcript": "ENST00000574025.5",
"protein_id": "ENSP00000461702.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 840,
"cds_start": null,
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"cds_length": 2523,
"cdna_start": null,
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"cdna_length": 2826,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000574025.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CORO7",
"gene_hgnc_id": 26161,
"hgvs_c": "c.125+7042C>T",
"hgvs_p": null,
"transcript": "NM_001351729.2",
"protein_id": "NP_001338658.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 705,
"cds_start": null,
"cds_end": null,
"cds_length": 2118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3456,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351729.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CORO7",
"gene_hgnc_id": 26161,
"hgvs_c": "c.320+7042C>T",
"hgvs_p": null,
"transcript": "ENST00000572549.5",
"protein_id": "ENSP00000459286.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 204,
"cds_start": null,
"cds_end": null,
"cds_length": 617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 663,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000572549.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CORO7",
"gene_hgnc_id": 26161,
"hgvs_c": "c.281+7042C>T",
"hgvs_p": null,
"transcript": "ENST00000572044.1",
"protein_id": "ENSP00000458411.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 160,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 563,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000572044.1"
},
{
"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": 29,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "CORO7",
"gene_hgnc_id": 26161,
"hgvs_c": "n.*721+7042C>T",
"hgvs_p": null,
"transcript": "ENST00000571227.5",
"protein_id": "ENSP00000458459.1",
"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": 3578,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000571227.5"
},
{
"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": 16,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CORO7",
"gene_hgnc_id": 26161,
"hgvs_c": "n.*64+7042C>T",
"hgvs_p": null,
"transcript": "ENST00000571756.5",
"protein_id": "ENSP00000458828.1",
"transcript_support_level": 2,
"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": 1890,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000571756.5"
},
{
"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": 17,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CORO7",
"gene_hgnc_id": 26161,
"hgvs_c": "n.281+7042C>T",
"hgvs_p": null,
"transcript": "ENST00000574311.5",
"protein_id": "ENSP00000461187.1",
"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": 1737,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000574311.5"
},
{
"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": 33,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "CORO7-PAM16",
"gene_hgnc_id": 44424,
"hgvs_c": "n.785+7042C>T",
"hgvs_p": null,
"transcript": "ENST00000575334.5",
"protein_id": "ENSP00000458607.1",
"transcript_support_level": 2,
"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": 3815,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000575334.5"
},
{
"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": 20,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CORO7",
"gene_hgnc_id": 26161,
"hgvs_c": "n.314+7042C>T",
"hgvs_p": null,
"transcript": "ENST00000575714.5",
"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": 2978,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000575714.5"
},
{
"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": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CORO7",
"gene_hgnc_id": 26161,
"hgvs_c": "n.116+14345C>T",
"hgvs_p": null,
"transcript": "ENST00000576437.5",
"protein_id": "ENSP00000459228.1",
"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": 1066,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000576437.5"
}
],
"gene_symbol": "VASN",
"gene_hgnc_id": 18517,
"dbsnp": "rs1305994296",
"frequency_reference_population": 0.0000013830856,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000138309,
"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": 0.15417489409446716,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.229,
"revel_prediction": "Benign",
"alphamissense_score": 0.0783,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.24,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.295,
"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_138440.3",
"gene_symbol": "VASN",
"hgnc_id": 18517,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.67G>A",
"hgvs_p": "p.Gly23Ser"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001201479.2",
"gene_symbol": "CORO7-PAM16",
"hgnc_id": 44424,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.785+7042C>T",
"hgvs_p": null
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_024535.5",
"gene_symbol": "CORO7",
"hgnc_id": 26161,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.785+7042C>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
}