← 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: 2-230169171-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=230169171&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 230169171,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_080424.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.2095C>T",
"hgvs_p": "p.Leu699Phe",
"transcript": "NM_080424.4",
"protein_id": "NP_536349.3",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 713,
"cds_start": 2095,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 2207,
"cdna_end": null,
"cdna_length": 6192,
"mane_select": "ENST00000258381.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.2095C>T",
"hgvs_p": "p.Leu699Phe",
"transcript": "ENST00000258381.11",
"protein_id": "ENSP00000258381.6",
"transcript_support_level": 2,
"aa_start": 699,
"aa_end": null,
"aa_length": 713,
"cds_start": 2095,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 2207,
"cdna_end": null,
"cdna_length": 6192,
"mane_select": "NM_080424.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.2023C>T",
"hgvs_p": "p.Leu675Phe",
"transcript": "ENST00000358662.9",
"protein_id": "ENSP00000351488.4",
"transcript_support_level": 1,
"aa_start": 675,
"aa_end": null,
"aa_length": 689,
"cds_start": 2023,
"cds_end": null,
"cds_length": 2070,
"cdna_start": 2135,
"cdna_end": null,
"cdna_length": 6120,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.2191C>T",
"hgvs_p": "p.Leu731Phe",
"transcript": "NM_001378442.1",
"protein_id": "NP_001365371.1",
"transcript_support_level": null,
"aa_start": 731,
"aa_end": null,
"aa_length": 745,
"cds_start": 2191,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 2356,
"cdna_end": null,
"cdna_length": 6341,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.2173C>T",
"hgvs_p": "p.Leu725Phe",
"transcript": "NM_001378443.1",
"protein_id": "NP_001365372.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 739,
"cds_start": 2173,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 2285,
"cdna_end": null,
"cdna_length": 6270,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.2113C>T",
"hgvs_p": "p.Leu705Phe",
"transcript": "NM_001378444.1",
"protein_id": "NP_001365373.1",
"transcript_support_level": null,
"aa_start": 705,
"aa_end": null,
"aa_length": 719,
"cds_start": 2113,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 2278,
"cdna_end": null,
"cdna_length": 6263,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.2041C>T",
"hgvs_p": "p.Leu681Phe",
"transcript": "NM_001378445.1",
"protein_id": "NP_001365374.1",
"transcript_support_level": null,
"aa_start": 681,
"aa_end": null,
"aa_length": 695,
"cds_start": 2041,
"cds_end": null,
"cds_length": 2088,
"cdna_start": 2206,
"cdna_end": null,
"cdna_length": 6191,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.2023C>T",
"hgvs_p": "p.Leu675Phe",
"transcript": "NM_004509.5",
"protein_id": "NP_004500.4",
"transcript_support_level": null,
"aa_start": 675,
"aa_end": null,
"aa_length": 689,
"cds_start": 2023,
"cds_end": null,
"cds_length": 2070,
"cdna_start": 2135,
"cdna_end": null,
"cdna_length": 6120,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.1900C>T",
"hgvs_p": "p.Leu634Phe",
"transcript": "NM_001378446.1",
"protein_id": "NP_001365375.1",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 648,
"cds_start": 1900,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 2065,
"cdna_end": null,
"cdna_length": 6050,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.2191C>T",
"hgvs_p": "p.Leu731Phe",
"transcript": "XM_017003968.3",
"protein_id": "XP_016859457.1",
"transcript_support_level": null,
"aa_start": 731,
"aa_end": null,
"aa_length": 745,
"cds_start": 2191,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 2535,
"cdna_end": null,
"cdna_length": 6520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.2041C>T",
"hgvs_p": "p.Leu681Phe",
"transcript": "XM_011511090.4",
"protein_id": "XP_011509392.1",
"transcript_support_level": null,
"aa_start": 681,
"aa_end": null,
"aa_length": 695,
"cds_start": 2041,
"cds_end": null,
"cds_length": 2088,
"cdna_start": 2206,
"cdna_end": null,
"cdna_length": 6191,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.1972C>T",
"hgvs_p": "p.Leu658Phe",
"transcript": "XM_011511091.4",
"protein_id": "XP_011509393.1",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
"aa_length": 672,
"cds_start": 1972,
"cds_end": null,
"cds_length": 2019,
"cdna_start": 2137,
"cdna_end": null,
"cdna_length": 6122,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.1882C>T",
"hgvs_p": "p.Leu628Phe",
"transcript": "XM_047444120.1",
"protein_id": "XP_047300076.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 642,
"cds_start": 1882,
"cds_end": null,
"cds_length": 1929,
"cdna_start": 1994,
"cdna_end": null,
"cdna_length": 5979,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.1750C>T",
"hgvs_p": "p.Leu584Phe",
"transcript": "XM_024452850.2",
"protein_id": "XP_024308618.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 598,
"cds_start": 1750,
"cds_end": null,
"cds_length": 1797,
"cdna_start": 1915,
"cdna_end": null,
"cdna_length": 5900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.1732C>T",
"hgvs_p": "p.Leu578Phe",
"transcript": "XM_047444121.1",
"protein_id": "XP_047300077.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 592,
"cds_start": 1732,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 1844,
"cdna_end": null,
"cdna_length": 5829,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.1564C>T",
"hgvs_p": "p.Leu522Phe",
"transcript": "XM_011511092.4",
"protein_id": "XP_011509394.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 536,
"cds_start": 1564,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 2137,
"cdna_end": null,
"cdna_length": 6122,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "n.362C>T",
"hgvs_p": null,
"transcript": "ENST00000463022.1",
"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": 405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "n.847C>T",
"hgvs_p": null,
"transcript": "ENST00000477068.1",
"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": 2725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "n.346C>T",
"hgvs_p": null,
"transcript": "ENST00000480916.1",
"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": 599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "n.314C>T",
"hgvs_p": null,
"transcript": "ENST00000483067.1",
"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": 553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "n.2023C>T",
"hgvs_p": null,
"transcript": "ENST00000698099.1",
"protein_id": "ENSP00000513563.1",
"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": 3010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "n.1732C>T",
"hgvs_p": null,
"transcript": "ENST00000698100.1",
"protein_id": "ENSP00000513564.1",
"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": 2360,
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000225963",
"gene_hgnc_id": null,
"hgvs_c": "n.1071-2928G>A",
"hgvs_p": null,
"transcript": "ENST00000454058.4",
"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": 1584,
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000225963",
"gene_hgnc_id": null,
"hgvs_c": "n.318-2928G>A",
"hgvs_p": null,
"transcript": "ENST00000600787.4",
"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": 1374,
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000225963",
"gene_hgnc_id": null,
"hgvs_c": "n.546+1519G>A",
"hgvs_p": null,
"transcript": "ENST00000609120.1",
"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": 942,
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000225963",
"gene_hgnc_id": null,
"hgvs_c": "n.305-2928G>A",
"hgvs_p": null,
"transcript": "ENST00000625295.3",
"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": 933,
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000225963",
"gene_hgnc_id": null,
"hgvs_c": "n.503-2928G>A",
"hgvs_p": null,
"transcript": "ENST00000625550.2",
"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": 898,
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000225963",
"gene_hgnc_id": null,
"hgvs_c": "n.613+1519G>A",
"hgvs_p": null,
"transcript": "ENST00000626428.2",
"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": 1009,
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000225963",
"gene_hgnc_id": null,
"hgvs_c": "n.1003+1519G>A",
"hgvs_p": null,
"transcript": "ENST00000628587.2",
"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": 1399,
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000225963",
"gene_hgnc_id": null,
"hgvs_c": "n.405-2928G>A",
"hgvs_p": null,
"transcript": "ENST00000630748.2",
"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": 891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"dbsnp": "rs1396764952",
"frequency_reference_population": 0.000009294867,
"hom_count_reference_population": 0,
"allele_count_reference_population": 15,
"gnomad_exomes_af": 0.00000957793,
"gnomad_genomes_af": 0.00000657462,
"gnomad_exomes_ac": 14,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04352360963821411,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.035,
"revel_prediction": "Benign",
"alphamissense_score": 0.0776,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.74,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.77,
"phylop100way_prediction": "Benign",
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_080424.4",
"gene_symbol": "SP110",
"hgnc_id": 5401,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2095C>T",
"hgvs_p": "p.Leu699Phe"
},
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000454058.4",
"gene_symbol": "ENSG00000225963",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1071-2928G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}