← 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: 11-69078931-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=69078931&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 69078931,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_139075.4",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPCN2",
"gene_hgnc_id": 20820,
"hgvs_c": "c.1450A>C",
"hgvs_p": "p.Met484Leu",
"transcript": "NM_139075.4",
"protein_id": "NP_620714.2",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 752,
"cds_start": 1450,
"cds_end": null,
"cds_length": 2259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000294309.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_139075.4"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPCN2",
"gene_hgnc_id": 20820,
"hgvs_c": "c.1450A>C",
"hgvs_p": "p.Met484Leu",
"transcript": "ENST00000294309.8",
"protein_id": "ENSP00000294309.3",
"transcript_support_level": 1,
"aa_start": 484,
"aa_end": null,
"aa_length": 752,
"cds_start": 1450,
"cds_end": null,
"cds_length": 2259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_139075.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000294309.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000287725",
"gene_hgnc_id": null,
"hgvs_c": "n.307A>C",
"hgvs_p": null,
"transcript": "ENST00000637084.1",
"protein_id": "ENSP00000490615.1",
"transcript_support_level": 1,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000637084.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPCN2",
"gene_hgnc_id": 20820,
"hgvs_c": "c.1447A>C",
"hgvs_p": "p.Met483Leu",
"transcript": "ENST00000897239.1",
"protein_id": "ENSP00000567298.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 751,
"cds_start": 1447,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897239.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPCN2",
"gene_hgnc_id": 20820,
"hgvs_c": "c.1447A>C",
"hgvs_p": "p.Met483Leu",
"transcript": "ENST00000897242.1",
"protein_id": "ENSP00000567301.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 751,
"cds_start": 1447,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897242.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPCN2",
"gene_hgnc_id": 20820,
"hgvs_c": "c.1447A>C",
"hgvs_p": "p.Met483Leu",
"transcript": "ENST00000915422.1",
"protein_id": "ENSP00000585481.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 736,
"cds_start": 1447,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915422.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPCN2",
"gene_hgnc_id": 20820,
"hgvs_c": "c.1447A>C",
"hgvs_p": "p.Met483Leu",
"transcript": "ENST00000897247.1",
"protein_id": "ENSP00000567306.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 727,
"cds_start": 1447,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897247.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPCN2",
"gene_hgnc_id": 20820,
"hgvs_c": "c.1450A>C",
"hgvs_p": "p.Met484Leu",
"transcript": "ENST00000897246.1",
"protein_id": "ENSP00000567305.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 717,
"cds_start": 1450,
"cds_end": null,
"cds_length": 2154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897246.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPCN2",
"gene_hgnc_id": 20820,
"hgvs_c": "c.1450A>C",
"hgvs_p": "p.Met484Leu",
"transcript": "ENST00000897245.1",
"protein_id": "ENSP00000567304.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 702,
"cds_start": 1450,
"cds_end": null,
"cds_length": 2109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897245.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPCN2",
"gene_hgnc_id": 20820,
"hgvs_c": "c.1450A>C",
"hgvs_p": "p.Met484Leu",
"transcript": "ENST00000637342.1",
"protein_id": "ENSP00000490171.1",
"transcript_support_level": 5,
"aa_start": 484,
"aa_end": null,
"aa_length": 698,
"cds_start": 1450,
"cds_end": null,
"cds_length": 2097,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637342.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPCN2",
"gene_hgnc_id": 20820,
"hgvs_c": "c.1281A>C",
"hgvs_p": "p.Arg427Ser",
"transcript": "ENST00000915420.1",
"protein_id": "ENSP00000585479.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 679,
"cds_start": 1281,
"cds_end": null,
"cds_length": 2040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915420.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPCN2",
"gene_hgnc_id": 20820,
"hgvs_c": "c.1278A>C",
"hgvs_p": "p.Arg426Ser",
"transcript": "ENST00000897240.1",
"protein_id": "ENSP00000567299.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 678,
"cds_start": 1278,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897240.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPCN2",
"gene_hgnc_id": 20820,
"hgvs_c": "c.1450A>C",
"hgvs_p": "p.Met484Leu",
"transcript": "ENST00000915421.1",
"protein_id": "ENSP00000585480.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 678,
"cds_start": 1450,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915421.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPCN2",
"gene_hgnc_id": 20820,
"hgvs_c": "c.1195A>C",
"hgvs_p": "p.Met399Leu",
"transcript": "ENST00000897241.1",
"protein_id": "ENSP00000567300.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 667,
"cds_start": 1195,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897241.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPCN2",
"gene_hgnc_id": 20820,
"hgvs_c": "c.1192A>C",
"hgvs_p": "p.Met398Leu",
"transcript": "ENST00000897243.1",
"protein_id": "ENSP00000567302.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 666,
"cds_start": 1192,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897243.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPCN2",
"gene_hgnc_id": 20820,
"hgvs_c": "c.1078A>C",
"hgvs_p": "p.Met360Leu",
"transcript": "ENST00000897244.1",
"protein_id": "ENSP00000567303.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 628,
"cds_start": 1078,
"cds_end": null,
"cds_length": 1887,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897244.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPCN2",
"gene_hgnc_id": 20820,
"hgvs_c": "c.1195A>C",
"hgvs_p": "p.Met399Leu",
"transcript": "ENST00000915423.1",
"protein_id": "ENSP00000585482.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 617,
"cds_start": 1195,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915423.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPCN2",
"gene_hgnc_id": 20820,
"hgvs_c": "c.1030A>C",
"hgvs_p": "p.Met344Leu",
"transcript": "ENST00000915419.1",
"protein_id": "ENSP00000585478.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 612,
"cds_start": 1030,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915419.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPCN2",
"gene_hgnc_id": 20820,
"hgvs_c": "c.1450A>C",
"hgvs_p": "p.Met484Leu",
"transcript": "ENST00000637504.1",
"protein_id": "ENSP00000489759.1",
"transcript_support_level": 5,
"aa_start": 484,
"aa_end": null,
"aa_length": 584,
"cds_start": 1450,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637504.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPCN2",
"gene_hgnc_id": 20820,
"hgvs_c": "c.937A>C",
"hgvs_p": "p.Met313Leu",
"transcript": "ENST00000897238.1",
"protein_id": "ENSP00000567297.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 581,
"cds_start": 937,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897238.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPCN2",
"gene_hgnc_id": 20820,
"hgvs_c": "c.1450A>C",
"hgvs_p": "p.Met484Leu",
"transcript": "ENST00000542467.1",
"protein_id": "ENSP00000445551.1",
"transcript_support_level": 2,
"aa_start": 484,
"aa_end": null,
"aa_length": 570,
"cds_start": 1450,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542467.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPCN2",
"gene_hgnc_id": 20820,
"hgvs_c": "n.1043A>C",
"hgvs_p": null,
"transcript": "ENST00000442692.2",
"protein_id": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000442692.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPCN2",
"gene_hgnc_id": 20820,
"hgvs_c": "n.1259A>C",
"hgvs_p": null,
"transcript": "ENST00000535009.5",
"protein_id": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000535009.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPCN2",
"gene_hgnc_id": 20820,
"hgvs_c": "n.1450A>C",
"hgvs_p": null,
"transcript": "ENST00000635811.1",
"protein_id": "ENSP00000490341.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000635811.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000287725",
"gene_hgnc_id": null,
"hgvs_c": "n.307A>C",
"hgvs_p": null,
"transcript": "ENST00000692585.1",
"protein_id": "ENSP00000509200.1",
"transcript_support_level": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000692585.1"
}
],
"gene_symbol": "TPCN2",
"gene_hgnc_id": 20820,
"dbsnp": "rs35264875",
"frequency_reference_population": 6.8412834e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84128e-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": 0.15198960900306702,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.344,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1199,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.1,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.705,
"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_139075.4",
"gene_symbol": "TPCN2",
"hgnc_id": 20820,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1450A>C",
"hgvs_p": "p.Met484Leu"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000637084.1",
"gene_symbol": "ENSG00000287725",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.307A>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}