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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: 11-61416376-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=61416376&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 61416376,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_024811.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF7",
"gene_hgnc_id": 30098,
"hgvs_c": "c.667C>A",
"hgvs_p": "p.Leu223Ile",
"transcript": "NM_001142565.3",
"protein_id": "NP_001136037.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 462,
"cds_start": 667,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000439958.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142565.3"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF7",
"gene_hgnc_id": 30098,
"hgvs_c": "c.667C>A",
"hgvs_p": "p.Leu223Ile",
"transcript": "ENST00000439958.8",
"protein_id": "ENSP00000397203.3",
"transcript_support_level": 1,
"aa_start": 223,
"aa_end": null,
"aa_length": 462,
"cds_start": 667,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001142565.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439958.8"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF7",
"gene_hgnc_id": 30098,
"hgvs_c": "c.823C>A",
"hgvs_p": "p.Leu275Ile",
"transcript": "ENST00000340437.8",
"protein_id": "ENSP00000345412.4",
"transcript_support_level": 1,
"aa_start": 275,
"aa_end": null,
"aa_length": 514,
"cds_start": 823,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340437.8"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF7",
"gene_hgnc_id": 30098,
"hgvs_c": "c.823C>A",
"hgvs_p": "p.Leu275Ile",
"transcript": "NM_024811.4",
"protein_id": "NP_079087.3",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 514,
"cds_start": 823,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024811.4"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF7",
"gene_hgnc_id": 30098,
"hgvs_c": "c.694C>A",
"hgvs_p": "p.Leu232Ile",
"transcript": "NM_001136040.4",
"protein_id": "NP_001129512.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 471,
"cds_start": 694,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001136040.4"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF7",
"gene_hgnc_id": 30098,
"hgvs_c": "c.694C>A",
"hgvs_p": "p.Leu232Ile",
"transcript": "ENST00000394888.8",
"protein_id": "ENSP00000378352.4",
"transcript_support_level": 2,
"aa_start": 232,
"aa_end": null,
"aa_length": 471,
"cds_start": 694,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394888.8"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF7",
"gene_hgnc_id": 30098,
"hgvs_c": "c.694C>A",
"hgvs_p": "p.Leu232Ile",
"transcript": "ENST00000859445.1",
"protein_id": "ENSP00000529504.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 471,
"cds_start": 694,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859445.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF7",
"gene_hgnc_id": 30098,
"hgvs_c": "c.694C>A",
"hgvs_p": "p.Leu232Ile",
"transcript": "ENST00000859446.1",
"protein_id": "ENSP00000529505.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 471,
"cds_start": 694,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859446.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF7",
"gene_hgnc_id": 30098,
"hgvs_c": "c.694C>A",
"hgvs_p": "p.Leu232Ile",
"transcript": "ENST00000859447.1",
"protein_id": "ENSP00000529506.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 471,
"cds_start": 694,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859447.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF7",
"gene_hgnc_id": 30098,
"hgvs_c": "c.694C>A",
"hgvs_p": "p.Leu232Ile",
"transcript": "ENST00000859448.1",
"protein_id": "ENSP00000529507.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 471,
"cds_start": 694,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859448.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"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": "CPSF7",
"gene_hgnc_id": 30098,
"hgvs_c": "c.694C>A",
"hgvs_p": "p.Leu232Ile",
"transcript": "ENST00000859449.1",
"protein_id": "ENSP00000529508.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 471,
"cds_start": 694,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859449.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF7",
"gene_hgnc_id": 30098,
"hgvs_c": "c.694C>A",
"hgvs_p": "p.Leu232Ile",
"transcript": "ENST00000925921.1",
"protein_id": "ENSP00000595980.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 471,
"cds_start": 694,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925921.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF7",
"gene_hgnc_id": 30098,
"hgvs_c": "c.694C>A",
"hgvs_p": "p.Leu232Ile",
"transcript": "ENST00000940949.1",
"protein_id": "ENSP00000611008.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 469,
"cds_start": 694,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940949.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF7",
"gene_hgnc_id": 30098,
"hgvs_c": "c.667C>A",
"hgvs_p": "p.Leu223Ile",
"transcript": "ENST00000448745.5",
"protein_id": "ENSP00000407394.1",
"transcript_support_level": 5,
"aa_start": 223,
"aa_end": null,
"aa_length": 462,
"cds_start": 667,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000448745.5"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF7",
"gene_hgnc_id": 30098,
"hgvs_c": "c.601C>A",
"hgvs_p": "p.Leu201Ile",
"transcript": "ENST00000925920.1",
"protein_id": "ENSP00000595979.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 440,
"cds_start": 601,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925920.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF7",
"gene_hgnc_id": 30098,
"hgvs_c": "c.550C>A",
"hgvs_p": "p.Leu184Ile",
"transcript": "ENST00000925919.1",
"protein_id": "ENSP00000595978.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 423,
"cds_start": 550,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925919.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF7",
"gene_hgnc_id": 30098,
"hgvs_c": "c.667C>A",
"hgvs_p": "p.Leu223Ile",
"transcript": "ENST00000477890.6",
"protein_id": "ENSP00000437860.1",
"transcript_support_level": 5,
"aa_start": 223,
"aa_end": null,
"aa_length": 373,
"cds_start": 667,
"cds_end": null,
"cds_length": 1124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000477890.6"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF7",
"gene_hgnc_id": 30098,
"hgvs_c": "c.667C>A",
"hgvs_p": "p.Leu223Ile",
"transcript": "ENST00000539952.5",
"protein_id": "ENSP00000438381.1",
"transcript_support_level": 5,
"aa_start": 223,
"aa_end": null,
"aa_length": 287,
"cds_start": 667,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539952.5"
},
{
"aa_ref": "L",
"aa_alt": "I",
"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": "CPSF7",
"gene_hgnc_id": 30098,
"hgvs_c": "c.823C>A",
"hgvs_p": "p.Leu275Ile",
"transcript": "XM_047427617.1",
"protein_id": "XP_047283573.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 514,
"cds_start": 823,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427617.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF7",
"gene_hgnc_id": 30098,
"hgvs_c": "c.796C>A",
"hgvs_p": "p.Leu266Ile",
"transcript": "XM_005274298.5",
"protein_id": "XP_005274355.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 505,
"cds_start": 796,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005274298.5"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF7",
"gene_hgnc_id": 30098,
"hgvs_c": "c.694C>A",
"hgvs_p": "p.Leu232Ile",
"transcript": "XM_005274299.5",
"protein_id": "XP_005274356.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 471,
"cds_start": 694,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005274299.5"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF7",
"gene_hgnc_id": 30098,
"hgvs_c": "c.694C>A",
"hgvs_p": "p.Leu232Ile",
"transcript": "XM_011545258.3",
"protein_id": "XP_011543560.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 471,
"cds_start": 694,
"cds_end": null,
"cds_length": 1416,
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"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF7",
"gene_hgnc_id": 30098,
"hgvs_c": "n.*281C>A",
"hgvs_p": null,
"transcript": "ENST00000544990.5",
"protein_id": "ENSP00000440414.1",
"transcript_support_level": 3,
"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": "ENST00000544990.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF7",
"gene_hgnc_id": 30098,
"hgvs_c": "c.*9C>A",
"hgvs_p": null,
"transcript": "ENST00000544585.5",
"protein_id": "ENSP00000437531.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 218,
"cds_start": null,
"cds_end": null,
"cds_length": 658,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000544585.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF7",
"gene_hgnc_id": 30098,
"hgvs_c": "c.*53C>A",
"hgvs_p": null,
"transcript": "ENST00000413232.5",
"protein_id": "ENSP00000393828.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 203,
"cds_start": null,
"cds_end": null,
"cds_length": 614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000413232.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF7",
"gene_hgnc_id": 30098,
"hgvs_c": "n.*454C>A",
"hgvs_p": null,
"transcript": "ENST00000537162.5",
"protein_id": "ENSP00000442819.1",
"transcript_support_level": 3,
"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": "ENST00000537162.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPSF7",
"gene_hgnc_id": 30098,
"hgvs_c": "n.*308C>A",
"hgvs_p": null,
"transcript": "ENST00000543545.5",
"protein_id": "ENSP00000443504.1",
"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": "ENST00000543545.5"
}
],
"gene_symbol": "CPSF7",
"gene_hgnc_id": 30098,
"dbsnp": "rs770786938",
"frequency_reference_population": 0.000019856685,
"hom_count_reference_population": 0,
"allele_count_reference_population": 32,
"gnomad_exomes_af": 0.0000205557,
"gnomad_genomes_af": 0.0000131496,
"gnomad_exomes_ac": 30,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10631248354911804,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.021,
"revel_prediction": "Benign",
"alphamissense_score": 0.0941,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.486,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_024811.4",
"gene_symbol": "CPSF7",
"hgnc_id": 30098,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.823C>A",
"hgvs_p": "p.Leu275Ile"
}
],
"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
}