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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: 15-63059576-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=63059576&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 63059576,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000403994.9",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.388A>G",
"hgvs_p": "p.Ile130Val",
"transcript": "NM_001018005.2",
"protein_id": "NP_001018005.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 284,
"cds_start": 388,
"cds_end": null,
"cds_length": 855,
"cdna_start": 471,
"cdna_end": null,
"cdna_length": 1217,
"mane_select": "ENST00000403994.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.388A>G",
"hgvs_p": "p.Ile130Val",
"transcript": "ENST00000403994.9",
"protein_id": "ENSP00000385107.4",
"transcript_support_level": 1,
"aa_start": 130,
"aa_end": null,
"aa_length": 284,
"cds_start": 388,
"cds_end": null,
"cds_length": 855,
"cdna_start": 471,
"cdna_end": null,
"cdna_length": 1217,
"mane_select": "NM_001018005.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.388A>G",
"hgvs_p": "p.Ile130Val",
"transcript": "ENST00000267996.11",
"protein_id": "ENSP00000267996.7",
"transcript_support_level": 1,
"aa_start": 130,
"aa_end": null,
"aa_length": 284,
"cds_start": 388,
"cds_end": null,
"cds_length": 855,
"cdna_start": 460,
"cdna_end": null,
"cdna_length": 1670,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.388A>G",
"hgvs_p": "p.Ile130Val",
"transcript": "ENST00000288398.10",
"protein_id": "ENSP00000288398.6",
"transcript_support_level": 1,
"aa_start": 130,
"aa_end": null,
"aa_length": 284,
"cds_start": 388,
"cds_end": null,
"cds_length": 855,
"cdna_start": 586,
"cdna_end": null,
"cdna_length": 1295,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.388A>G",
"hgvs_p": "p.Ile130Val",
"transcript": "ENST00000358278.7",
"protein_id": "ENSP00000351022.3",
"transcript_support_level": 1,
"aa_start": 130,
"aa_end": null,
"aa_length": 284,
"cds_start": 388,
"cds_end": null,
"cds_length": 855,
"cdna_start": 533,
"cdna_end": null,
"cdna_length": 1717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.388A>G",
"hgvs_p": "p.Ile130Val",
"transcript": "ENST00000560970.6",
"protein_id": "ENSP00000453062.2",
"transcript_support_level": 1,
"aa_start": 130,
"aa_end": null,
"aa_length": 284,
"cds_start": 388,
"cds_end": null,
"cds_length": 855,
"cdna_start": 388,
"cdna_end": null,
"cdna_length": 1097,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.280A>G",
"hgvs_p": "p.Ile94Val",
"transcript": "ENST00000404484.9",
"protein_id": "ENSP00000384315.4",
"transcript_support_level": 1,
"aa_start": 94,
"aa_end": null,
"aa_length": 248,
"cds_start": 280,
"cds_end": null,
"cds_length": 747,
"cdna_start": 385,
"cdna_end": null,
"cdna_length": 943,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.280A>G",
"hgvs_p": "p.Ile94Val",
"transcript": "ENST00000317516.12",
"protein_id": "ENSP00000322577.7",
"transcript_support_level": 1,
"aa_start": 94,
"aa_end": null,
"aa_length": 245,
"cds_start": 280,
"cds_end": null,
"cds_length": 738,
"cdna_start": 367,
"cdna_end": null,
"cdna_length": 1160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.280A>G",
"hgvs_p": "p.Ile94Val",
"transcript": "ENST00000334895.10",
"protein_id": "ENSP00000334624.4",
"transcript_support_level": 1,
"aa_start": 94,
"aa_end": null,
"aa_length": 245,
"cds_start": 280,
"cds_end": null,
"cds_length": 738,
"cdna_start": 417,
"cdna_end": null,
"cdna_length": 1564,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "n.788A>G",
"hgvs_p": null,
"transcript": "ENST00000558314.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 1031,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.388A>G",
"hgvs_p": "p.Ile130Val",
"transcript": "ENST00000714017.1",
"protein_id": "ENSP00000519307.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 341,
"cds_start": 388,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 467,
"cdna_end": null,
"cdna_length": 1304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.514A>G",
"hgvs_p": "p.Ile172Val",
"transcript": "NM_001365778.1",
"protein_id": "NP_001352707.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 326,
"cds_start": 514,
"cds_end": null,
"cds_length": 981,
"cdna_start": 597,
"cdna_end": null,
"cdna_length": 1807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.514A>G",
"hgvs_p": "p.Ile172Val",
"transcript": "NM_001407322.1",
"protein_id": "NP_001394251.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 326,
"cds_start": 514,
"cds_end": null,
"cds_length": 981,
"cdna_start": 597,
"cdna_end": null,
"cdna_length": 1343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.514A>G",
"hgvs_p": "p.Ile172Val",
"transcript": "NM_001407323.1",
"protein_id": "NP_001394252.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 326,
"cds_start": 514,
"cds_end": null,
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"cdna_start": 597,
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"cdna_length": 1391,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.514A>G",
"hgvs_p": "p.Ile172Val",
"transcript": "NM_001407324.1",
"protein_id": "NP_001394253.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 326,
"cds_start": 514,
"cds_end": null,
"cds_length": 981,
"cdna_start": 597,
"cdna_end": null,
"cdna_length": 1145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.514A>G",
"hgvs_p": "p.Ile172Val",
"transcript": "ENST00000357980.9",
"protein_id": "ENSP00000350667.4",
"transcript_support_level": 2,
"aa_start": 172,
"aa_end": null,
"aa_length": 326,
"cds_start": 514,
"cds_end": null,
"cds_length": 981,
"cdna_start": 597,
"cdna_end": null,
"cdna_length": 1807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.514A>G",
"hgvs_p": "p.Ile172Val",
"transcript": "ENST00000714013.1",
"protein_id": "ENSP00000519303.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 326,
"cds_start": 514,
"cds_end": null,
"cds_length": 981,
"cdna_start": 601,
"cdna_end": null,
"cdna_length": 1262,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.388A>G",
"hgvs_p": "p.Ile130Val",
"transcript": "NM_001407325.1",
"protein_id": "NP_001394254.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 311,
"cds_start": 388,
"cds_end": null,
"cds_length": 936,
"cdna_start": 471,
"cdna_end": null,
"cdna_length": 2437,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.388A>G",
"hgvs_p": "p.Ile130Val",
"transcript": "NM_001407326.1",
"protein_id": "NP_001394255.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 294,
"cds_start": 388,
"cds_end": null,
"cds_length": 885,
"cdna_start": 471,
"cdna_end": null,
"cdna_length": 1760,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.388A>G",
"hgvs_p": "p.Ile130Val",
"transcript": "NM_001365777.1",
"protein_id": "NP_001352706.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 287,
"cds_start": 388,
"cds_end": null,
"cds_length": 864,
"cdna_start": 471,
"cdna_end": null,
"cdna_length": 1138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.388A>G",
"hgvs_p": "p.Ile130Val",
"transcript": "NM_001407327.1",
"protein_id": "NP_001394256.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 287,
"cds_start": 388,
"cds_end": null,
"cds_length": 864,
"cdna_start": 471,
"cdna_end": null,
"cdna_length": 1138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.388A>G",
"hgvs_p": "p.Ile130Val",
"transcript": "NM_001407328.1",
"protein_id": "NP_001394257.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 287,
"cds_start": 388,
"cds_end": null,
"cds_length": 864,
"cdna_start": 471,
"cdna_end": null,
"cdna_length": 1138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "c.388A>G",
"hgvs_p": "p.Ile130Val",
"transcript": "NM_000366.6",
"protein_id": "NP_000357.3",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
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"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2873,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "n.367A>G",
"hgvs_p": null,
"transcript": "NR_176353.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "n.*132A>G",
"hgvs_p": null,
"transcript": "ENST00000714016.1",
"protein_id": "ENSP00000519306.1",
"transcript_support_level": null,
"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": 1221,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"hgvs_c": "n.375-1293A>G",
"hgvs_p": null,
"transcript": "ENST00000558347.5",
"protein_id": "ENSP00000452887.1",
"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": 1525,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TPM1",
"gene_hgnc_id": 12010,
"dbsnp": "rs1114167355",
"frequency_reference_population": 6.858927e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.85893e-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": 0.7857491374015808,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "CardioboostCm",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.731,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.3082,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.27,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.325,
"phylop100way_prediction": "Pathogenic",
"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": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP3,PP5",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP3",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000403994.9",
"gene_symbol": "TPM1",
"hgnc_id": 12010,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.388A>G",
"hgvs_p": "p.Ile130Val"
}
],
"clinvar_disease": "Pulmonary atresia with intact ventricular septum",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Pulmonary atresia with intact ventricular septum",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}