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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: 17-7260724-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=7260724&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 7260724,
"ref": "G",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001307.6",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDN7",
"gene_hgnc_id": 2049,
"hgvs_c": "c.391C>G",
"hgvs_p": "p.Leu131Val",
"transcript": "NM_001307.6",
"protein_id": "NP_001298.3",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 211,
"cds_start": 391,
"cds_end": null,
"cds_length": 636,
"cdna_start": 826,
"cdna_end": null,
"cdna_length": 1542,
"mane_select": "ENST00000360325.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001307.6"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDN7",
"gene_hgnc_id": 2049,
"hgvs_c": "c.391C>G",
"hgvs_p": "p.Leu131Val",
"transcript": "ENST00000360325.11",
"protein_id": "ENSP00000353475.7",
"transcript_support_level": 1,
"aa_start": 131,
"aa_end": null,
"aa_length": 211,
"cds_start": 391,
"cds_end": null,
"cds_length": 636,
"cdna_start": 826,
"cdna_end": null,
"cdna_length": 1542,
"mane_select": "NM_001307.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360325.11"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDN7",
"gene_hgnc_id": 2049,
"hgvs_c": "c.391C>G",
"hgvs_p": "p.Leu131Val",
"transcript": "ENST00000397317.8",
"protein_id": "ENSP00000396638.3",
"transcript_support_level": 1,
"aa_start": 131,
"aa_end": null,
"aa_length": 211,
"cds_start": 391,
"cds_end": null,
"cds_length": 636,
"cdna_start": 746,
"cdna_end": null,
"cdna_length": 1228,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397317.8"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDN7",
"gene_hgnc_id": 2049,
"hgvs_c": "c.142C>G",
"hgvs_p": "p.Leu48Val",
"transcript": "ENST00000574070.5",
"protein_id": "ENSP00000460550.1",
"transcript_support_level": 1,
"aa_start": 48,
"aa_end": null,
"aa_length": 98,
"cds_start": 142,
"cds_end": null,
"cds_length": 299,
"cdna_start": 328,
"cdna_end": null,
"cdna_length": 485,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000574070.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000262302",
"gene_hgnc_id": null,
"hgvs_c": "n.223+1097C>G",
"hgvs_p": null,
"transcript": "ENST00000577138.1",
"protein_id": "ENSP00000460571.1",
"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": 489,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000577138.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDN7",
"gene_hgnc_id": 2049,
"hgvs_c": "c.391C>G",
"hgvs_p": "p.Leu131Val",
"transcript": "NM_001185022.2",
"protein_id": "NP_001171951.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 211,
"cds_start": 391,
"cds_end": null,
"cds_length": 636,
"cdna_start": 746,
"cdna_end": null,
"cdna_length": 1462,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001185022.2"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDN7",
"gene_hgnc_id": 2049,
"hgvs_c": "c.391C>G",
"hgvs_p": "p.Leu131Val",
"transcript": "ENST00000888702.1",
"protein_id": "ENSP00000558761.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 211,
"cds_start": 391,
"cds_end": null,
"cds_length": 636,
"cdna_start": 831,
"cdna_end": null,
"cdna_length": 2103,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888702.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDN7",
"gene_hgnc_id": 2049,
"hgvs_c": "c.391C>G",
"hgvs_p": "p.Leu131Val",
"transcript": "ENST00000888703.1",
"protein_id": "ENSP00000558762.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 211,
"cds_start": 391,
"cds_end": null,
"cds_length": 636,
"cdna_start": 761,
"cdna_end": null,
"cdna_length": 1242,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888703.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDN7",
"gene_hgnc_id": 2049,
"hgvs_c": "c.391C>G",
"hgvs_p": "p.Leu131Val",
"transcript": "ENST00000888704.1",
"protein_id": "ENSP00000558763.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 211,
"cds_start": 391,
"cds_end": null,
"cds_length": 636,
"cdna_start": 967,
"cdna_end": null,
"cdna_length": 1447,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888704.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDN7",
"gene_hgnc_id": 2049,
"hgvs_c": "c.391C>G",
"hgvs_p": "p.Leu131Val",
"transcript": "ENST00000888705.1",
"protein_id": "ENSP00000558764.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 211,
"cds_start": 391,
"cds_end": null,
"cds_length": 636,
"cdna_start": 1172,
"cdna_end": null,
"cdna_length": 1649,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888705.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDN7",
"gene_hgnc_id": 2049,
"hgvs_c": "c.391C>G",
"hgvs_p": "p.Leu131Val",
"transcript": "ENST00000888706.1",
"protein_id": "ENSP00000558765.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 211,
"cds_start": 391,
"cds_end": null,
"cds_length": 636,
"cdna_start": 1193,
"cdna_end": null,
"cdna_length": 1676,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888706.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDN7",
"gene_hgnc_id": 2049,
"hgvs_c": "c.391C>G",
"hgvs_p": "p.Leu131Val",
"transcript": "ENST00000888707.1",
"protein_id": "ENSP00000558766.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 211,
"cds_start": 391,
"cds_end": null,
"cds_length": 636,
"cdna_start": 754,
"cdna_end": null,
"cdna_length": 1234,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888707.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDN7",
"gene_hgnc_id": 2049,
"hgvs_c": "c.391C>G",
"hgvs_p": "p.Leu131Val",
"transcript": "ENST00000888708.1",
"protein_id": "ENSP00000558767.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 211,
"cds_start": 391,
"cds_end": null,
"cds_length": 636,
"cdna_start": 810,
"cdna_end": null,
"cdna_length": 1524,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888708.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDN7",
"gene_hgnc_id": 2049,
"hgvs_c": "c.391C>G",
"hgvs_p": "p.Leu131Val",
"transcript": "ENST00000912871.1",
"protein_id": "ENSP00000582930.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 211,
"cds_start": 391,
"cds_end": null,
"cds_length": 636,
"cdna_start": 521,
"cdna_end": null,
"cdna_length": 1237,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912871.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDN7",
"gene_hgnc_id": 2049,
"hgvs_c": "c.391C>G",
"hgvs_p": "p.Leu131Val",
"transcript": "ENST00000912872.1",
"protein_id": "ENSP00000582931.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 211,
"cds_start": 391,
"cds_end": null,
"cds_length": 636,
"cdna_start": 536,
"cdna_end": null,
"cdna_length": 1251,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912872.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDN7",
"gene_hgnc_id": 2049,
"hgvs_c": "c.391C>G",
"hgvs_p": "p.Leu131Val",
"transcript": "ENST00000912873.1",
"protein_id": "ENSP00000582932.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 211,
"cds_start": 391,
"cds_end": null,
"cds_length": 636,
"cdna_start": 1036,
"cdna_end": null,
"cdna_length": 1516,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912873.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDN7",
"gene_hgnc_id": 2049,
"hgvs_c": "c.391C>G",
"hgvs_p": "p.Leu131Val",
"transcript": "ENST00000912874.1",
"protein_id": "ENSP00000582933.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 211,
"cds_start": 391,
"cds_end": null,
"cds_length": 636,
"cdna_start": 736,
"cdna_end": null,
"cdna_length": 1216,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912874.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDN7",
"gene_hgnc_id": 2049,
"hgvs_c": "c.391C>G",
"hgvs_p": "p.Leu131Val",
"transcript": "ENST00000912875.1",
"protein_id": "ENSP00000582934.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 211,
"cds_start": 391,
"cds_end": null,
"cds_length": 636,
"cdna_start": 824,
"cdna_end": null,
"cdna_length": 1301,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912875.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDN7",
"gene_hgnc_id": 2049,
"hgvs_c": "c.451C>G",
"hgvs_p": "p.Leu151Val",
"transcript": "ENST00000575313.1",
"protein_id": "ENSP00000460796.1",
"transcript_support_level": 3,
"aa_start": 151,
"aa_end": null,
"aa_length": 192,
"cds_start": 451,
"cds_end": null,
"cds_length": 581,
"cdna_start": 475,
"cdna_end": null,
"cdna_length": 605,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000575313.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDN7",
"gene_hgnc_id": 2049,
"hgvs_c": "c.226C>G",
"hgvs_p": "p.Leu76Val",
"transcript": "ENST00000912876.1",
"protein_id": "ENSP00000582935.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 156,
"cds_start": 226,
"cds_end": null,
"cds_length": 471,
"cdna_start": 661,
"cdna_end": null,
"cdna_length": 1377,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912876.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDN7",
"gene_hgnc_id": 2049,
"hgvs_c": "c.365C>G",
"hgvs_p": "p.Ser122Cys",
"transcript": "ENST00000571881.2",
"protein_id": "ENSP00000465963.1",
"transcript_support_level": 3,
"aa_start": 122,
"aa_end": null,
"aa_length": 140,
"cds_start": 365,
"cds_end": null,
"cds_length": 423,
"cdna_start": 665,
"cdna_end": null,
"cdna_length": 735,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000571881.2"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CLDN7",
"gene_hgnc_id": 2049,
"hgvs_c": "c.388+97C>G",
"hgvs_p": null,
"transcript": "NM_001185023.2",
"protein_id": "NP_001171952.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 145,
"cds_start": null,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1457,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001185023.2"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CLDN7",
"gene_hgnc_id": 2049,
"hgvs_c": "c.388+97C>G",
"hgvs_p": null,
"transcript": "ENST00000538261.7",
"protein_id": "ENSP00000445131.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 145,
"cds_start": null,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1923,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000538261.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDN7",
"gene_hgnc_id": 2049,
"hgvs_c": "c.*97C>G",
"hgvs_p": null,
"transcript": "ENST00000571932.2",
"protein_id": "ENSP00000467220.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 128,
"cds_start": null,
"cds_end": null,
"cds_length": 388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 743,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000571932.2"
}
],
"gene_symbol": "CLDN7",
"gene_hgnc_id": 2049,
"dbsnp": "rs1256012497",
"frequency_reference_population": 6.8404785e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84048e-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": 0.7486261129379272,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.616,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1141,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.1,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 1.437,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001307.6",
"gene_symbol": "CLDN7",
"hgnc_id": 2049,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.391C>G",
"hgvs_p": "p.Leu131Val"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000577138.1",
"gene_symbol": "ENSG00000262302",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.223+1097C>G",
"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
}