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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: 9-13123296-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=13123296&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 13123296,
"ref": "T",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000319217.12",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.4810A>G",
"hgvs_p": "p.Thr1604Ala",
"transcript": "NM_001378778.1",
"protein_id": "NP_001365707.1",
"transcript_support_level": null,
"aa_start": 1604,
"aa_end": null,
"aa_length": 2070,
"cds_start": 4810,
"cds_end": null,
"cds_length": 6213,
"cdna_start": 5160,
"cdna_end": null,
"cdna_length": 7821,
"mane_select": "ENST00000319217.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.4810A>G",
"hgvs_p": "p.Thr1604Ala",
"transcript": "ENST00000319217.12",
"protein_id": "ENSP00000320006.7",
"transcript_support_level": 5,
"aa_start": 1604,
"aa_end": null,
"aa_length": 2070,
"cds_start": 4810,
"cds_end": null,
"cds_length": 6213,
"cdna_start": 5160,
"cdna_end": null,
"cdna_length": 7821,
"mane_select": "NM_001378778.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.4810A>G",
"hgvs_p": "p.Thr1604Ala",
"transcript": "ENST00000541718.5",
"protein_id": "ENSP00000439807.1",
"transcript_support_level": 1,
"aa_start": 1604,
"aa_end": null,
"aa_length": 2041,
"cds_start": 4810,
"cds_end": null,
"cds_length": 6126,
"cdna_start": 5032,
"cdna_end": null,
"cdna_length": 7603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.4711A>G",
"hgvs_p": "p.Thr1571Ala",
"transcript": "ENST00000447879.6",
"protein_id": "ENSP00000415208.1",
"transcript_support_level": 1,
"aa_start": 1571,
"aa_end": null,
"aa_length": 2037,
"cds_start": 4711,
"cds_end": null,
"cds_length": 6114,
"cdna_start": 4933,
"cdna_end": null,
"cdna_length": 6441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.4711A>G",
"hgvs_p": "p.Thr1571Ala",
"transcript": "ENST00000536827.5",
"protein_id": "ENSP00000444151.1",
"transcript_support_level": 1,
"aa_start": 1571,
"aa_end": null,
"aa_length": 2008,
"cds_start": 4711,
"cds_end": null,
"cds_length": 6027,
"cdna_start": 4754,
"cdna_end": null,
"cdna_length": 6176,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.4909A>G",
"hgvs_p": "p.Thr1637Ala",
"transcript": "NM_001375413.1",
"protein_id": "NP_001362342.1",
"transcript_support_level": null,
"aa_start": 1637,
"aa_end": null,
"aa_length": 2103,
"cds_start": 4909,
"cds_end": null,
"cds_length": 6312,
"cdna_start": 5332,
"cdna_end": null,
"cdna_length": 7993,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.4852A>G",
"hgvs_p": "p.Thr1618Ala",
"transcript": "ENST00000546205.5",
"protein_id": "ENSP00000446358.1",
"transcript_support_level": 5,
"aa_start": 1618,
"aa_end": null,
"aa_length": 2084,
"cds_start": 4852,
"cds_end": null,
"cds_length": 6255,
"cdna_start": 4917,
"cdna_end": null,
"cdna_length": 6342,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.4810A>G",
"hgvs_p": "p.Thr1604Ala",
"transcript": "NM_001330637.2",
"protein_id": "NP_001317566.1",
"transcript_support_level": null,
"aa_start": 1604,
"aa_end": null,
"aa_length": 2070,
"cds_start": 4810,
"cds_end": null,
"cds_length": 6213,
"cdna_start": 4996,
"cdna_end": null,
"cdna_length": 7657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.4810A>G",
"hgvs_p": "p.Thr1604Ala",
"transcript": "NM_003829.5",
"protein_id": "NP_003820.2",
"transcript_support_level": null,
"aa_start": 1604,
"aa_end": null,
"aa_length": 2041,
"cds_start": 4810,
"cds_end": null,
"cds_length": 6126,
"cdna_start": 5160,
"cdna_end": null,
"cdna_length": 7734,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.4711A>G",
"hgvs_p": "p.Thr1571Ala",
"transcript": "NM_001261406.2",
"protein_id": "NP_001248335.1",
"transcript_support_level": null,
"aa_start": 1571,
"aa_end": null,
"aa_length": 2037,
"cds_start": 4711,
"cds_end": null,
"cds_length": 6114,
"cdna_start": 5061,
"cdna_end": null,
"cdna_length": 7722,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.4711A>G",
"hgvs_p": "p.Thr1571Ala",
"transcript": "NM_001375416.1",
"protein_id": "NP_001362345.1",
"transcript_support_level": null,
"aa_start": 1571,
"aa_end": null,
"aa_length": 2037,
"cds_start": 4711,
"cds_end": null,
"cds_length": 6114,
"cdna_start": 4897,
"cdna_end": null,
"cdna_length": 7558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.4711A>G",
"hgvs_p": "p.Thr1571Ala",
"transcript": "NM_001375417.1",
"protein_id": "NP_001362346.1",
"transcript_support_level": null,
"aa_start": 1571,
"aa_end": null,
"aa_length": 2037,
"cds_start": 4711,
"cds_end": null,
"cds_length": 6114,
"cdna_start": 5134,
"cdna_end": null,
"cdna_length": 7795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.4711A>G",
"hgvs_p": "p.Thr1571Ala",
"transcript": "NM_001375418.1",
"protein_id": "NP_001362347.1",
"transcript_support_level": null,
"aa_start": 1571,
"aa_end": null,
"aa_length": 2037,
"cds_start": 4711,
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"cdna_start": 5095,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.4711A>G",
"hgvs_p": "p.Thr1571Ala",
"transcript": "NM_001261407.2",
"protein_id": "NP_001248336.1",
"transcript_support_level": null,
"aa_start": 1571,
"aa_end": null,
"aa_length": 2008,
"cds_start": 4711,
"cds_end": null,
"cds_length": 6027,
"cdna_start": 5061,
"cdna_end": null,
"cdna_length": 7635,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.4711A>G",
"hgvs_p": "p.Thr1571Ala",
"transcript": "NM_001375419.1",
"protein_id": "NP_001362348.1",
"transcript_support_level": null,
"aa_start": 1571,
"aa_end": null,
"aa_length": 2008,
"cds_start": 4711,
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"cdna_start": 4897,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.4600A>G",
"hgvs_p": "p.Thr1534Ala",
"transcript": "NM_001375420.1",
"protein_id": "NP_001362349.1",
"transcript_support_level": null,
"aa_start": 1534,
"aa_end": null,
"aa_length": 2000,
"cds_start": 4600,
"cds_end": null,
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"cdna_start": 4786,
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"cdna_length": 7447,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.4600A>G",
"hgvs_p": "p.Thr1534Ala",
"transcript": "NM_001375421.1",
"protein_id": "NP_001362350.1",
"transcript_support_level": null,
"aa_start": 1534,
"aa_end": null,
"aa_length": 2000,
"cds_start": 4600,
"cds_end": null,
"cds_length": 6003,
"cdna_start": 5518,
"cdna_end": null,
"cdna_length": 8179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.4600A>G",
"hgvs_p": "p.Thr1534Ala",
"transcript": "NM_001375422.1",
"protein_id": "NP_001362351.1",
"transcript_support_level": null,
"aa_start": 1534,
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"feature": null
},
{
"aa_ref": "T",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.4600A>G",
"hgvs_p": "p.Thr1534Ala",
"transcript": "NM_001375423.1",
"protein_id": "NP_001362352.1",
"transcript_support_level": null,
"aa_start": 1534,
"aa_end": null,
"aa_length": 2000,
"cds_start": 4600,
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"cdna_start": 4984,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.4600A>G",
"hgvs_p": "p.Thr1534Ala",
"transcript": "NM_001375424.1",
"protein_id": "NP_001362353.1",
"transcript_support_level": null,
"aa_start": 1534,
"aa_end": null,
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"cds_start": 4600,
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"cdna_start": 4950,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.4600A>G",
"hgvs_p": "p.Thr1534Ala",
"transcript": "NM_001375425.1",
"protein_id": "NP_001362354.1",
"transcript_support_level": null,
"aa_start": 1534,
"aa_end": null,
"aa_length": 1971,
"cds_start": 4600,
"cds_end": null,
"cds_length": 5916,
"cdna_start": 4786,
"cdna_end": null,
"cdna_length": 7360,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "c.4600A>G",
"hgvs_p": "p.Thr1534Ala",
"transcript": "NM_001375426.1",
"protein_id": "NP_001362355.1",
"transcript_support_level": null,
"aa_start": 1534,
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"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "n.*845A>G",
"hgvs_p": null,
"transcript": "ENST00000542806.5",
"protein_id": "ENSP00000437651.1",
"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": 2385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "n.*845A>G",
"hgvs_p": null,
"transcript": "ENST00000542806.5",
"protein_id": "ENSP00000437651.1",
"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": 2385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"hgvs_c": "n.-27A>G",
"hgvs_p": null,
"transcript": "ENST00000437441.2",
"protein_id": "ENSP00000406902.2",
"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": 581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MPDZ",
"gene_hgnc_id": 7208,
"dbsnp": "rs16930134",
"frequency_reference_population": 0.0027961119,
"hom_count_reference_population": 111,
"allele_count_reference_population": 4477,
"gnomad_exomes_af": 0.00147625,
"gnomad_genomes_af": 0.0153602,
"gnomad_exomes_ac": 2139,
"gnomad_genomes_ac": 2338,
"gnomad_exomes_homalt": 56,
"gnomad_genomes_homalt": 55,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0017824172973632812,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.013,
"revel_prediction": "Benign",
"alphamissense_score": 0.0749,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.487,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000319217.12",
"gene_symbol": "MPDZ",
"hgnc_id": 7208,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4810A>G",
"hgvs_p": "p.Thr1604Ala"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}