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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: 19-1624008-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=1624008&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 1624008,
"ref": "A",
"alt": "G",
"effect": "splice_region_variant,intron_variant",
"transcript": "NM_003200.5",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.500-8T>C",
"hgvs_p": null,
"transcript": "NM_003200.5",
"protein_id": "NP_003191.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 654,
"cds_start": null,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000262965.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003200.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.500-8T>C",
"hgvs_p": null,
"transcript": "ENST00000262965.12",
"protein_id": "ENSP00000262965.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 654,
"cds_start": null,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003200.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262965.12"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.500-8T>C",
"hgvs_p": null,
"transcript": "NM_001136139.4",
"protein_id": "NP_001129611.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 651,
"cds_start": null,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "ENST00000588136.7",
"biotype": "protein_coding",
"feature": "NM_001136139.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.500-8T>C",
"hgvs_p": null,
"transcript": "ENST00000588136.7",
"protein_id": "ENSP00000468487.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 651,
"cds_start": null,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "NM_001136139.4",
"biotype": "protein_coding",
"feature": "ENST00000588136.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.587-8T>C",
"hgvs_p": null,
"transcript": "ENST00000931972.1",
"protein_id": "ENSP00000602031.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 710,
"cds_start": null,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931972.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.587-8T>C",
"hgvs_p": null,
"transcript": "ENST00000948466.1",
"protein_id": "ENSP00000618525.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 707,
"cds_start": null,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948466.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.587-8T>C",
"hgvs_p": null,
"transcript": "ENST00000931963.1",
"protein_id": "ENSP00000602022.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 683,
"cds_start": null,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931963.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.587-8T>C",
"hgvs_p": null,
"transcript": "ENST00000931968.1",
"protein_id": "ENSP00000602027.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 683,
"cds_start": null,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931968.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.587-8T>C",
"hgvs_p": null,
"transcript": "ENST00000931970.1",
"protein_id": "ENSP00000602029.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 683,
"cds_start": null,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931970.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.587-8T>C",
"hgvs_p": null,
"transcript": "ENST00000931967.1",
"protein_id": "ENSP00000602026.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 682,
"cds_start": null,
"cds_end": null,
"cds_length": 2049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931967.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.587-8T>C",
"hgvs_p": null,
"transcript": "ENST00000931971.1",
"protein_id": "ENSP00000602030.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 682,
"cds_start": null,
"cds_end": null,
"cds_length": 2049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931971.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.587-8T>C",
"hgvs_p": null,
"transcript": "ENST00000453954.6",
"protein_id": "ENSP00000396363.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 679,
"cds_start": null,
"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": "ENST00000453954.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.347-8T>C",
"hgvs_p": null,
"transcript": "ENST00000395423.7",
"protein_id": "ENSP00000378813.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 658,
"cds_start": null,
"cds_end": null,
"cds_length": 1977,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395423.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.500-8T>C",
"hgvs_p": null,
"transcript": "ENST00000863491.1",
"protein_id": "ENSP00000533550.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 654,
"cds_start": null,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863491.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.500-8T>C",
"hgvs_p": null,
"transcript": "ENST00000931966.1",
"protein_id": "ENSP00000602025.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 654,
"cds_start": null,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931966.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.500-8T>C",
"hgvs_p": null,
"transcript": "ENST00000931973.1",
"protein_id": "ENSP00000602032.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 654,
"cds_start": null,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931973.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.500-8T>C",
"hgvs_p": null,
"transcript": "ENST00000931974.1",
"protein_id": "ENSP00000602033.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 654,
"cds_start": null,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931974.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.500-8T>C",
"hgvs_p": null,
"transcript": "NM_001351778.2",
"protein_id": "NP_001338707.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 653,
"cds_start": null,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351778.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.500-8T>C",
"hgvs_p": null,
"transcript": "ENST00000863492.1",
"protein_id": "ENSP00000533551.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 653,
"cds_start": null,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863492.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.500-8T>C",
"hgvs_p": null,
"transcript": "ENST00000931964.1",
"protein_id": "ENSP00000602023.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 653,
"cds_start": null,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931964.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.500-8T>C",
"hgvs_p": null,
"transcript": "NM_001351779.2",
"protein_id": "NP_001338708.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 651,
"cds_start": null,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351779.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"hgvs_c": "c.347-8T>C",
"hgvs_p": null,
"transcript": "ENST00000863493.1",
"protein_id": "ENSP00000533552.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 4,
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"gene_symbol": "TCF3",
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"transcript": "XM_047439292.1",
"protein_id": "XP_047295248.1",
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"aa_length": 600,
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"biotype": "protein_coding",
"feature": "XM_047439292.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 4,
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"transcript": "XM_047439293.1",
"protein_id": "XP_047295249.1",
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "XM_047439293.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 5,
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"gene_symbol": "TCF3",
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"transcript": "XM_047439297.1",
"protein_id": "XP_047295253.1",
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"biotype": "protein_coding",
"feature": "XM_047439297.1"
},
{
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"protein_coding": true,
"strand": false,
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"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 5,
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"gene_symbol": "TCF3",
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"hgvs_c": "c.347-8T>C",
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"transcript": "XM_047439298.1",
"protein_id": "XP_047295254.1",
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"aa_length": 599,
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"cds_length": 1800,
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"biotype": "protein_coding",
"feature": "XM_047439298.1"
},
{
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"consequences": [
"splice_region_variant",
"intron_variant"
],
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"exon_count": 20,
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"gene_symbol": "TCF3",
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"hgvs_c": "n.*244-8T>C",
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"transcript": "ENST00000705032.1",
"protein_id": "ENSP00000516067.1",
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"aa_length": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000705032.1"
}
],
"gene_symbol": "TCF3",
"gene_hgnc_id": 11633,
"dbsnp": "rs55677929",
"frequency_reference_population": 0.24401475,
"hom_count_reference_population": 53848,
"allele_count_reference_population": 393384,
"gnomad_exomes_af": 0.241894,
"gnomad_genomes_af": 0.264384,
"gnomad_exomes_ac": 353195,
"gnomad_genomes_ac": 40189,
"gnomad_exomes_homalt": 47882,
"gnomad_genomes_homalt": 5966,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9300000071525574,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.93,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.058,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.00000687323919894249,
"dbscsnv_ada_prediction": "Benign",
"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": "NM_003200.5",
"gene_symbol": "TCF3",
"hgnc_id": 11633,
"effects": [
"splice_region_variant",
"intron_variant"
],
"inheritance_mode": "AR,AD,SD",
"hgvs_c": "c.500-8T>C",
"hgvs_p": null
}
],
"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 provided|not specified",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}