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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: 1-23393908-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=23393908&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 23393908,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_003196.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEA3",
"gene_hgnc_id": 11615,
"hgvs_c": "c.790G>T",
"hgvs_p": "p.Ala264Ser",
"transcript": "NM_003196.3",
"protein_id": "NP_003187.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 348,
"cds_start": 790,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000450454.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003196.3"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEA3",
"gene_hgnc_id": 11615,
"hgvs_c": "c.790G>T",
"hgvs_p": "p.Ala264Ser",
"transcript": "ENST00000450454.7",
"protein_id": "ENSP00000406293.2",
"transcript_support_level": 1,
"aa_start": 264,
"aa_end": null,
"aa_length": 348,
"cds_start": 790,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003196.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450454.7"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEA3",
"gene_hgnc_id": 11615,
"hgvs_c": "c.790G>T",
"hgvs_p": "p.Ala264Ser",
"transcript": "ENST00000476978.3",
"protein_id": "ENSP00000474530.3",
"transcript_support_level": 3,
"aa_start": 264,
"aa_end": null,
"aa_length": 351,
"cds_start": 790,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000476978.3"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEA3",
"gene_hgnc_id": 11615,
"hgvs_c": "c.1060G>T",
"hgvs_p": "p.Ala354Ser",
"transcript": "ENST00000898825.1",
"protein_id": "ENSP00000568884.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 438,
"cds_start": 1060,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898825.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEA3",
"gene_hgnc_id": 11615,
"hgvs_c": "c.997G>T",
"hgvs_p": "p.Ala333Ser",
"transcript": "ENST00000898823.1",
"protein_id": "ENSP00000568882.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 417,
"cds_start": 997,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898823.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEA3",
"gene_hgnc_id": 11615,
"hgvs_c": "c.790G>T",
"hgvs_p": "p.Ala264Ser",
"transcript": "ENST00000898818.1",
"protein_id": "ENSP00000568877.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 348,
"cds_start": 790,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898818.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEA3",
"gene_hgnc_id": 11615,
"hgvs_c": "c.790G>T",
"hgvs_p": "p.Ala264Ser",
"transcript": "ENST00000941055.1",
"protein_id": "ENSP00000611114.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 348,
"cds_start": 790,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941055.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEA3",
"gene_hgnc_id": 11615,
"hgvs_c": "c.790G>T",
"hgvs_p": "p.Ala264Ser",
"transcript": "ENST00000941056.1",
"protein_id": "ENSP00000611115.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 348,
"cds_start": 790,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941056.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEA3",
"gene_hgnc_id": 11615,
"hgvs_c": "c.787G>T",
"hgvs_p": "p.Ala263Ser",
"transcript": "ENST00000941057.1",
"protein_id": "ENSP00000611116.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 347,
"cds_start": 787,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941057.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEA3",
"gene_hgnc_id": 11615,
"hgvs_c": "c.790G>T",
"hgvs_p": "p.Ala264Ser",
"transcript": "ENST00000941061.1",
"protein_id": "ENSP00000611120.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 347,
"cds_start": 790,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941061.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEA3",
"gene_hgnc_id": 11615,
"hgvs_c": "c.790G>T",
"hgvs_p": "p.Ala264Ser",
"transcript": "ENST00000941059.1",
"protein_id": "ENSP00000611118.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 346,
"cds_start": 790,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941059.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEA3",
"gene_hgnc_id": 11615,
"hgvs_c": "c.727G>T",
"hgvs_p": "p.Ala243Ser",
"transcript": "ENST00000898819.1",
"protein_id": "ENSP00000568878.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 327,
"cds_start": 727,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898819.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEA3",
"gene_hgnc_id": 11615,
"hgvs_c": "c.727G>T",
"hgvs_p": "p.Ala243Ser",
"transcript": "ENST00000898820.1",
"protein_id": "ENSP00000568879.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 327,
"cds_start": 727,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898820.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEA3",
"gene_hgnc_id": 11615,
"hgvs_c": "c.790G>T",
"hgvs_p": "p.Ala264Ser",
"transcript": "ENST00000898822.1",
"protein_id": "ENSP00000568881.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 324,
"cds_start": 790,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898822.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEA3",
"gene_hgnc_id": 11615,
"hgvs_c": "c.790G>T",
"hgvs_p": "p.Ala264Ser",
"transcript": "ENST00000941060.1",
"protein_id": "ENSP00000611119.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 312,
"cds_start": 790,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941060.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEA3",
"gene_hgnc_id": 11615,
"hgvs_c": "c.664G>T",
"hgvs_p": "p.Ala222Ser",
"transcript": "ENST00000941058.1",
"protein_id": "ENSP00000611117.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 306,
"cds_start": 664,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941058.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEA3",
"gene_hgnc_id": 11615,
"hgvs_c": "c.790G>T",
"hgvs_p": "p.Ala264Ser",
"transcript": "ENST00000898824.1",
"protein_id": "ENSP00000568883.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 299,
"cds_start": 790,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898824.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEA3",
"gene_hgnc_id": 11615,
"hgvs_c": "c.790G>T",
"hgvs_p": "p.Ala264Ser",
"transcript": "XM_017002200.3",
"protein_id": "XP_016857689.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 487,
"cds_start": 790,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002200.3"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEA3",
"gene_hgnc_id": 11615,
"hgvs_c": "c.727G>T",
"hgvs_p": "p.Ala243Ser",
"transcript": "XM_017002201.2",
"protein_id": "XP_016857690.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 466,
"cds_start": 727,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002201.2"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEA3",
"gene_hgnc_id": 11615,
"hgvs_c": "c.727G>T",
"hgvs_p": "p.Ala243Ser",
"transcript": "XM_017002202.3",
"protein_id": "XP_016857691.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 466,
"cds_start": 727,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002202.3"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEA3",
"gene_hgnc_id": 11615,
"hgvs_c": "c.679G>T",
"hgvs_p": "p.Ala227Ser",
"transcript": "XM_017002203.2",
"protein_id": "XP_016857692.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 450,
"cds_start": 679,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002203.2"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEA3",
"gene_hgnc_id": 11615,
"hgvs_c": "c.790G>T",
"hgvs_p": "p.Ala264Ser",
"transcript": "XM_011542053.4",
"protein_id": "XP_011540355.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 364,
"cds_start": 790,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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{
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{
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{
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],
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"transcript": "ENST00000898821.1",
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"biotype": "protein_coding",
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],
"gene_symbol": "TCEA3",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 20,
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"gnomad_genomes_ac": 4,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.13000550866127014,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.12999999523162842,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.084,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.6,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.041,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.13,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
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"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_003196.3",
"gene_symbol": "TCEA3",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.790G>T",
"hgvs_p": "p.Ala264Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}