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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: 1-156317499-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=156317499&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 156317499,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_005998.5",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT3",
"gene_hgnc_id": 1616,
"hgvs_c": "c.808A>C",
"hgvs_p": "p.Met270Leu",
"transcript": "NM_005998.5",
"protein_id": "NP_005989.3",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 545,
"cds_start": 808,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000295688.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005998.5"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT3",
"gene_hgnc_id": 1616,
"hgvs_c": "c.808A>C",
"hgvs_p": "p.Met270Leu",
"transcript": "ENST00000295688.8",
"protein_id": "ENSP00000295688.3",
"transcript_support_level": 1,
"aa_start": 270,
"aa_end": null,
"aa_length": 545,
"cds_start": 808,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005998.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000295688.8"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT3",
"gene_hgnc_id": 1616,
"hgvs_c": "c.829A>C",
"hgvs_p": "p.Met277Leu",
"transcript": "ENST00000954294.1",
"protein_id": "ENSP00000624353.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 552,
"cds_start": 829,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954294.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT3",
"gene_hgnc_id": 1616,
"hgvs_c": "c.823A>C",
"hgvs_p": "p.Met275Leu",
"transcript": "ENST00000898516.1",
"protein_id": "ENSP00000568575.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 550,
"cds_start": 823,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898516.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT3",
"gene_hgnc_id": 1616,
"hgvs_c": "c.808A>C",
"hgvs_p": "p.Met270Leu",
"transcript": "ENST00000940011.1",
"protein_id": "ENSP00000610070.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 545,
"cds_start": 808,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940011.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT3",
"gene_hgnc_id": 1616,
"hgvs_c": "c.808A>C",
"hgvs_p": "p.Met270Leu",
"transcript": "ENST00000940013.1",
"protein_id": "ENSP00000610072.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 544,
"cds_start": 808,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940013.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT3",
"gene_hgnc_id": 1616,
"hgvs_c": "c.808A>C",
"hgvs_p": "p.Met270Leu",
"transcript": "ENST00000954292.1",
"protein_id": "ENSP00000624351.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 543,
"cds_start": 808,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954292.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT3",
"gene_hgnc_id": 1616,
"hgvs_c": "c.796A>C",
"hgvs_p": "p.Met266Leu",
"transcript": "ENST00000940017.1",
"protein_id": "ENSP00000610076.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 541,
"cds_start": 796,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940017.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT3",
"gene_hgnc_id": 1616,
"hgvs_c": "c.787A>C",
"hgvs_p": "p.Met263Leu",
"transcript": "ENST00000940012.1",
"protein_id": "ENSP00000610071.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 538,
"cds_start": 787,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940012.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT3",
"gene_hgnc_id": 1616,
"hgvs_c": "c.757A>C",
"hgvs_p": "p.Met253Leu",
"transcript": "ENST00000954295.1",
"protein_id": "ENSP00000624354.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 528,
"cds_start": 757,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954295.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT3",
"gene_hgnc_id": 1616,
"hgvs_c": "c.745A>C",
"hgvs_p": "p.Met249Leu",
"transcript": "ENST00000940020.1",
"protein_id": "ENSP00000610079.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 524,
"cds_start": 745,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940020.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT3",
"gene_hgnc_id": 1616,
"hgvs_c": "c.742A>C",
"hgvs_p": "p.Met248Leu",
"transcript": "ENST00000940022.1",
"protein_id": "ENSP00000610081.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 523,
"cds_start": 742,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940022.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT3",
"gene_hgnc_id": 1616,
"hgvs_c": "c.694A>C",
"hgvs_p": "p.Met232Leu",
"transcript": "NM_001008800.3",
"protein_id": "NP_001008800.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 507,
"cds_start": 694,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001008800.3"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT3",
"gene_hgnc_id": 1616,
"hgvs_c": "c.694A>C",
"hgvs_p": "p.Met232Leu",
"transcript": "ENST00000368259.6",
"protein_id": "ENSP00000357242.2",
"transcript_support_level": 2,
"aa_start": 232,
"aa_end": null,
"aa_length": 507,
"cds_start": 694,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368259.6"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT3",
"gene_hgnc_id": 1616,
"hgvs_c": "c.691A>C",
"hgvs_p": "p.Met231Leu",
"transcript": "ENST00000954293.1",
"protein_id": "ENSP00000624352.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 506,
"cds_start": 691,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954293.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT3",
"gene_hgnc_id": 1616,
"hgvs_c": "c.808A>C",
"hgvs_p": "p.Met270Leu",
"transcript": "ENST00000940018.1",
"protein_id": "ENSP00000610077.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 501,
"cds_start": 808,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940018.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT3",
"gene_hgnc_id": 1616,
"hgvs_c": "c.673A>C",
"hgvs_p": "p.Met225Leu",
"transcript": "ENST00000472765.6",
"protein_id": "ENSP00000431543.1",
"transcript_support_level": 2,
"aa_start": 225,
"aa_end": null,
"aa_length": 500,
"cds_start": 673,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000472765.6"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT3",
"gene_hgnc_id": 1616,
"hgvs_c": "c.658A>C",
"hgvs_p": "p.Met220Leu",
"transcript": "ENST00000940016.1",
"protein_id": "ENSP00000610075.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 495,
"cds_start": 658,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940016.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT3",
"gene_hgnc_id": 1616,
"hgvs_c": "c.808A>C",
"hgvs_p": "p.Met270Leu",
"transcript": "ENST00000940014.1",
"protein_id": "ENSP00000610073.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 463,
"cds_start": 808,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940014.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT3",
"gene_hgnc_id": 1616,
"hgvs_c": "c.535A>C",
"hgvs_p": "p.Met179Leu",
"transcript": "ENST00000940021.1",
"protein_id": "ENSP00000610080.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 454,
"cds_start": 535,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940021.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT3",
"gene_hgnc_id": 1616,
"hgvs_c": "c.694A>C",
"hgvs_p": "p.Met232Leu",
"transcript": "ENST00000954296.1",
"protein_id": "ENSP00000624355.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 425,
"cds_start": 694,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954296.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCT3",
"gene_hgnc_id": 1616,
"hgvs_c": "c.439A>C",
"hgvs_p": "p.Met147Leu",
"transcript": "ENST00000940015.1",
"protein_id": "ENSP00000610074.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 422,
"cds_start": 439,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940015.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
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},
{
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],
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"feature": "ENST00000940019.1"
},
{
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"consequences": [
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],
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"feature": "ENST00000368258.7"
},
{
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"feature": "ENST00000368262.7"
},
{
"aa_ref": null,
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],
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"feature": "NR_036564.2"
},
{
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],
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"feature": "NR_036565.2"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
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{
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"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
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"gene_symbol": "CCT3",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000368262.7"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"gene_symbol": "CCT3",
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"hgvs_c": "n.467+37A>C",
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"transcript": "ENST00000368261.7",
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"biotype": "pseudogene",
"feature": "ENST00000368261.7"
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],
"gene_symbol": "CCT3",
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"dbsnp": "rs757121256",
"frequency_reference_population": 0.000013145268,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0000131453,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1788310706615448,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.341,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1485,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.22,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.967,
"phylop100way_prediction": "Uncertain_significance",
"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_005998.5",
"gene_symbol": "CCT3",
"hgnc_id": 1616,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.808A>C",
"hgvs_p": "p.Met270Leu"
}
],
"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
}