← 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: 7-35863614-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=35863614&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 35863614,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000635047.1",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN7",
"gene_hgnc_id": 1717,
"hgvs_c": "c.232C>G",
"hgvs_p": "p.Pro78Ala",
"transcript": "NM_001788.6",
"protein_id": "NP_001779.3",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 437,
"cds_start": 232,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 385,
"cdna_end": null,
"cdna_length": 4284,
"mane_select": "ENST00000350320.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN7",
"gene_hgnc_id": 1717,
"hgvs_c": "c.232C>G",
"hgvs_p": "p.Pro78Ala",
"transcript": "ENST00000350320.11",
"protein_id": "ENSP00000344868.8",
"transcript_support_level": 5,
"aa_start": 78,
"aa_end": null,
"aa_length": 437,
"cds_start": 232,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 385,
"cdna_end": null,
"cdna_length": 4284,
"mane_select": "NM_001788.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN7",
"gene_hgnc_id": 1717,
"hgvs_c": "c.73C>G",
"hgvs_p": "p.Pro25Ala",
"transcript": "ENST00000635047.1",
"protein_id": "ENSP00000489480.1",
"transcript_support_level": 4,
"aa_start": 25,
"aa_end": null,
"aa_length": 156,
"cds_start": 73,
"cds_end": null,
"cds_length": 471,
"cdna_start": 362,
"cdna_end": null,
"cdna_length": 760,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN7",
"gene_hgnc_id": 1717,
"hgvs_c": "n.*149C>G",
"hgvs_p": null,
"transcript": "ENST00000635175.1",
"protein_id": "ENSP00000489192.1",
"transcript_support_level": 2,
"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": 1464,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN7",
"gene_hgnc_id": 1717,
"hgvs_c": "n.*149C>G",
"hgvs_p": null,
"transcript": "ENST00000635175.1",
"protein_id": "ENSP00000489192.1",
"transcript_support_level": 2,
"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": 1464,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN7",
"gene_hgnc_id": 1717,
"hgvs_c": "c.229C>G",
"hgvs_p": "p.Pro77Ala",
"transcript": "NM_001011553.4",
"protein_id": "NP_001011553.2",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 436,
"cds_start": 229,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 382,
"cdna_end": null,
"cdna_length": 2478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN7",
"gene_hgnc_id": 1717,
"hgvs_c": "c.229C>G",
"hgvs_p": "p.Pro77Ala",
"transcript": "ENST00000705486.1",
"protein_id": "ENSP00000516132.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 436,
"cds_start": 229,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 253,
"cdna_end": null,
"cdna_length": 2349,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN7",
"gene_hgnc_id": 1717,
"hgvs_c": "c.172C>G",
"hgvs_p": "p.Pro58Ala",
"transcript": "ENST00000399035.7",
"protein_id": "ENSP00000381993.4",
"transcript_support_level": 5,
"aa_start": 58,
"aa_end": null,
"aa_length": 417,
"cds_start": 172,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 172,
"cdna_end": null,
"cdna_length": 4066,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN7",
"gene_hgnc_id": 1717,
"hgvs_c": "c.124C>G",
"hgvs_p": "p.Pro42Ala",
"transcript": "NM_001242956.1",
"protein_id": "NP_001229885.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 401,
"cds_start": 124,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 348,
"cdna_end": null,
"cdna_length": 4242,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN7",
"gene_hgnc_id": 1717,
"hgvs_c": "c.124C>G",
"hgvs_p": "p.Pro42Ala",
"transcript": "ENST00000435235.6",
"protein_id": "ENSP00000413507.2",
"transcript_support_level": 2,
"aa_start": 42,
"aa_end": null,
"aa_length": 401,
"cds_start": 124,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 295,
"cdna_end": null,
"cdna_length": 1584,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN7",
"gene_hgnc_id": 1717,
"hgvs_c": "c.73C>G",
"hgvs_p": "p.Pro25Ala",
"transcript": "NM_001363715.2",
"protein_id": "NP_001350644.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 384,
"cds_start": 73,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 761,
"cdna_end": null,
"cdna_length": 4660,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN7",
"gene_hgnc_id": 1717,
"hgvs_c": "c.73C>G",
"hgvs_p": "p.Pro25Ala",
"transcript": "NM_001375299.1",
"protein_id": "NP_001362228.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 384,
"cds_start": 73,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 218,
"cdna_end": null,
"cdna_length": 2314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN7",
"gene_hgnc_id": 1717,
"hgvs_c": "c.73C>G",
"hgvs_p": "p.Pro25Ala",
"transcript": "ENST00000399034.7",
"protein_id": "ENSP00000381992.4",
"transcript_support_level": 5,
"aa_start": 25,
"aa_end": null,
"aa_length": 384,
"cds_start": 73,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 505,
"cdna_end": null,
"cdna_length": 4399,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN7",
"gene_hgnc_id": 1717,
"hgvs_c": "c.232C>G",
"hgvs_p": "p.Pro78Ala",
"transcript": "ENST00000672279.1",
"protein_id": "ENSP00000499937.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 174,
"cds_start": 232,
"cds_end": null,
"cds_length": 525,
"cdna_start": 256,
"cdna_end": null,
"cdna_length": 3095,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN7",
"gene_hgnc_id": 1717,
"hgvs_c": "c.73C>G",
"hgvs_p": "p.Pro25Ala",
"transcript": "ENST00000634600.1",
"protein_id": "ENSP00000489538.1",
"transcript_support_level": 2,
"aa_start": 25,
"aa_end": null,
"aa_length": 146,
"cds_start": 73,
"cds_end": null,
"cds_length": 441,
"cdna_start": 215,
"cdna_end": null,
"cdna_length": 583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN7",
"gene_hgnc_id": 1717,
"hgvs_c": "c.232C>G",
"hgvs_p": "p.Pro78Ala",
"transcript": "XM_011515656.3",
"protein_id": "XP_011513958.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 460,
"cds_start": 232,
"cds_end": null,
"cds_length": 1383,
"cdna_start": 385,
"cdna_end": null,
"cdna_length": 1551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN7",
"gene_hgnc_id": 1717,
"hgvs_c": "c.232C>G",
"hgvs_p": "p.Pro78Ala",
"transcript": "XM_006715806.4",
"protein_id": "XP_006715869.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 448,
"cds_start": 232,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 385,
"cdna_end": null,
"cdna_length": 4317,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN7",
"gene_hgnc_id": 1717,
"hgvs_c": "c.232C>G",
"hgvs_p": "p.Pro78Ala",
"transcript": "XM_011515661.3",
"protein_id": "XP_011513963.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 440,
"cds_start": 232,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 385,
"cdna_end": null,
"cdna_length": 1491,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN7",
"gene_hgnc_id": 1717,
"hgvs_c": "c.229C>G",
"hgvs_p": "p.Pro77Ala",
"transcript": "XM_047421095.1",
"protein_id": "XP_047277051.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 436,
"cds_start": 229,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 382,
"cdna_end": null,
"cdna_length": 4281,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN7",
"gene_hgnc_id": 1717,
"hgvs_c": "c.142C>G",
"hgvs_p": "p.Pro48Ala",
"transcript": "XM_047421096.1",
"protein_id": "XP_047277052.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 407,
"cds_start": 142,
"cds_end": null,
"cds_length": 1224,
"cdna_start": 158,
"cdna_end": null,
"cdna_length": 4057,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN7",
"gene_hgnc_id": 1717,
"hgvs_c": "c.73C>G",
"hgvs_p": "p.Pro25Ala",
"transcript": "XM_047421097.1",
"protein_id": "XP_047277053.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 395,
"cds_start": 73,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 380,
"cdna_end": null,
"cdna_length": 4312,
"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": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN7",
"gene_hgnc_id": 1717,
"hgvs_c": "n.166C>G",
"hgvs_p": null,
"transcript": "ENST00000425198.1",
"protein_id": null,
"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": 6952,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN7",
"gene_hgnc_id": 1717,
"hgvs_c": "n.210C>G",
"hgvs_p": null,
"transcript": "ENST00000473201.2",
"protein_id": null,
"transcript_support_level": 2,
"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": 7065,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN7",
"gene_hgnc_id": 1717,
"hgvs_c": "n.211C>G",
"hgvs_p": null,
"transcript": "ENST00000475109.5",
"protein_id": null,
"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": 733,
"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": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN7",
"gene_hgnc_id": 1717,
"hgvs_c": "n.266C>G",
"hgvs_p": null,
"transcript": "ENST00000634591.1",
"protein_id": null,
"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": 740,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN7",
"gene_hgnc_id": 1717,
"hgvs_c": "n.441C>G",
"hgvs_p": null,
"transcript": "ENST00000634700.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 582,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN7",
"gene_hgnc_id": 1717,
"hgvs_c": "n.251C>G",
"hgvs_p": null,
"transcript": "ENST00000635420.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 581,
"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": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN7",
"gene_hgnc_id": 1717,
"hgvs_c": "n.457C>G",
"hgvs_p": null,
"transcript": "ENST00000635669.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SEPTIN7",
"gene_hgnc_id": 1717,
"dbsnp": "rs199739906",
"frequency_reference_population": 0.0000013937554,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000139376,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.144155353307724,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.05,
"revel_prediction": "Benign",
"alphamissense_score": 0.0513,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.163,
"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": 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": "ENST00000635047.1",
"gene_symbol": "SEPTIN7",
"hgnc_id": 1717,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.73C>G",
"hgvs_p": "p.Pro25Ala"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}