← 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: 19-55455328-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=55455328&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 55455328,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_024710.3",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ISOC2",
"gene_hgnc_id": 26278,
"hgvs_c": "c.351C>G",
"hgvs_p": "p.Asn117Lys",
"transcript": "NM_001136201.2",
"protein_id": "NP_001129673.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 205,
"cds_start": 351,
"cds_end": null,
"cds_length": 618,
"cdna_start": 485,
"cdna_end": null,
"cdna_length": 1075,
"mane_select": "ENST00000425675.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001136201.2"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ISOC2",
"gene_hgnc_id": 26278,
"hgvs_c": "c.351C>G",
"hgvs_p": "p.Asn117Lys",
"transcript": "ENST00000425675.7",
"protein_id": "ENSP00000401726.1",
"transcript_support_level": 1,
"aa_start": 117,
"aa_end": null,
"aa_length": 205,
"cds_start": 351,
"cds_end": null,
"cds_length": 618,
"cdna_start": 485,
"cdna_end": null,
"cdna_length": 1075,
"mane_select": "NM_001136201.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000425675.7"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ISOC2",
"gene_hgnc_id": 26278,
"hgvs_c": "c.399C>G",
"hgvs_p": "p.Asn133Lys",
"transcript": "NM_024710.3",
"protein_id": "NP_078986.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 221,
"cds_start": 399,
"cds_end": null,
"cds_length": 666,
"cdna_start": 533,
"cdna_end": null,
"cdna_length": 1123,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024710.3"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ISOC2",
"gene_hgnc_id": 26278,
"hgvs_c": "c.399C>G",
"hgvs_p": "p.Asn133Lys",
"transcript": "ENST00000085068.7",
"protein_id": "ENSP00000085068.2",
"transcript_support_level": 2,
"aa_start": 133,
"aa_end": null,
"aa_length": 221,
"cds_start": 399,
"cds_end": null,
"cds_length": 666,
"cdna_start": 536,
"cdna_end": null,
"cdna_length": 1122,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000085068.7"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ISOC2",
"gene_hgnc_id": 26278,
"hgvs_c": "c.399C>G",
"hgvs_p": "p.Asn133Lys",
"transcript": "ENST00000910877.1",
"protein_id": "ENSP00000580936.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 221,
"cds_start": 399,
"cds_end": null,
"cds_length": 666,
"cdna_start": 615,
"cdna_end": null,
"cdna_length": 1204,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910877.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ISOC2",
"gene_hgnc_id": 26278,
"hgvs_c": "c.399C>G",
"hgvs_p": "p.Asn133Lys",
"transcript": "ENST00000927673.1",
"protein_id": "ENSP00000597732.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 221,
"cds_start": 399,
"cds_end": null,
"cds_length": 666,
"cdna_start": 470,
"cdna_end": null,
"cdna_length": 1062,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927673.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ISOC2",
"gene_hgnc_id": 26278,
"hgvs_c": "c.189C>G",
"hgvs_p": "p.Asn63Lys",
"transcript": "ENST00000910869.1",
"protein_id": "ENSP00000580928.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 151,
"cds_start": 189,
"cds_end": null,
"cds_length": 456,
"cdna_start": 337,
"cdna_end": null,
"cdna_length": 927,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910869.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ISOC2",
"gene_hgnc_id": 26278,
"hgvs_c": "c.189C>G",
"hgvs_p": "p.Asn63Lys",
"transcript": "ENST00000927671.1",
"protein_id": "ENSP00000597730.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 151,
"cds_start": 189,
"cds_end": null,
"cds_length": 456,
"cdna_start": 260,
"cdna_end": null,
"cdna_length": 860,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927671.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ISOC2",
"gene_hgnc_id": 26278,
"hgvs_c": "c.189C>G",
"hgvs_p": "p.Asn63Lys",
"transcript": "ENST00000927675.1",
"protein_id": "ENSP00000597734.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 151,
"cds_start": 189,
"cds_end": null,
"cds_length": 456,
"cdna_start": 603,
"cdna_end": null,
"cdna_length": 1193,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927675.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ISOC2",
"gene_hgnc_id": 26278,
"hgvs_c": "c.189C>G",
"hgvs_p": "p.Asn63Lys",
"transcript": "XM_047439445.1",
"protein_id": "XP_047295401.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 151,
"cds_start": 189,
"cds_end": null,
"cds_length": 456,
"cdna_start": 323,
"cdna_end": null,
"cdna_length": 913,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439445.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ISOC2",
"gene_hgnc_id": 26278,
"hgvs_c": "c.351C>G",
"hgvs_p": "p.Asn117Lys",
"transcript": "ENST00000910867.1",
"protein_id": "ENSP00000580926.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 205,
"cds_start": 351,
"cds_end": null,
"cds_length": 618,
"cdna_start": 673,
"cdna_end": null,
"cdna_length": 1267,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910867.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ISOC2",
"gene_hgnc_id": 26278,
"hgvs_c": "c.351C>G",
"hgvs_p": "p.Asn117Lys",
"transcript": "ENST00000910870.1",
"protein_id": "ENSP00000580929.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 205,
"cds_start": 351,
"cds_end": null,
"cds_length": 618,
"cdna_start": 434,
"cdna_end": null,
"cdna_length": 1025,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910870.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ISOC2",
"gene_hgnc_id": 26278,
"hgvs_c": "c.351C>G",
"hgvs_p": "p.Asn117Lys",
"transcript": "ENST00000910871.1",
"protein_id": "ENSP00000580930.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 205,
"cds_start": 351,
"cds_end": null,
"cds_length": 618,
"cdna_start": 773,
"cdna_end": null,
"cdna_length": 1363,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910871.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ISOC2",
"gene_hgnc_id": 26278,
"hgvs_c": "c.351C>G",
"hgvs_p": "p.Asn117Lys",
"transcript": "ENST00000910873.1",
"protein_id": "ENSP00000580932.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 205,
"cds_start": 351,
"cds_end": null,
"cds_length": 618,
"cdna_start": 571,
"cdna_end": null,
"cdna_length": 1159,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910873.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ISOC2",
"gene_hgnc_id": 26278,
"hgvs_c": "c.351C>G",
"hgvs_p": "p.Asn117Lys",
"transcript": "ENST00000910874.1",
"protein_id": "ENSP00000580933.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 205,
"cds_start": 351,
"cds_end": null,
"cds_length": 618,
"cdna_start": 758,
"cdna_end": null,
"cdna_length": 1344,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910874.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ISOC2",
"gene_hgnc_id": 26278,
"hgvs_c": "c.351C>G",
"hgvs_p": "p.Asn117Lys",
"transcript": "ENST00000910875.1",
"protein_id": "ENSP00000580934.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 205,
"cds_start": 351,
"cds_end": null,
"cds_length": 618,
"cdna_start": 512,
"cdna_end": null,
"cdna_length": 1103,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910875.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ISOC2",
"gene_hgnc_id": 26278,
"hgvs_c": "c.351C>G",
"hgvs_p": "p.Asn117Lys",
"transcript": "ENST00000910876.1",
"protein_id": "ENSP00000580935.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 205,
"cds_start": 351,
"cds_end": null,
"cds_length": 618,
"cdna_start": 732,
"cdna_end": null,
"cdna_length": 1326,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910876.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ISOC2",
"gene_hgnc_id": 26278,
"hgvs_c": "c.351C>G",
"hgvs_p": "p.Asn117Lys",
"transcript": "ENST00000941413.1",
"protein_id": "ENSP00000611472.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 205,
"cds_start": 351,
"cds_end": null,
"cds_length": 618,
"cdna_start": 1936,
"cdna_end": null,
"cdna_length": 2521,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941413.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ISOC2",
"gene_hgnc_id": 26278,
"hgvs_c": "c.324C>G",
"hgvs_p": "p.Asn108Lys",
"transcript": "ENST00000927676.1",
"protein_id": "ENSP00000597735.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 196,
"cds_start": 324,
"cds_end": null,
"cds_length": 591,
"cdna_start": 454,
"cdna_end": null,
"cdna_length": 1040,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927676.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ISOC2",
"gene_hgnc_id": 26278,
"hgvs_c": "c.351C>G",
"hgvs_p": "p.Asn117Lys",
"transcript": "ENST00000587226.5",
"protein_id": "ENSP00000465814.1",
"transcript_support_level": 5,
"aa_start": 117,
"aa_end": null,
"aa_length": 177,
"cds_start": 351,
"cds_end": null,
"cds_length": 536,
"cdna_start": 669,
"cdna_end": null,
"cdna_length": 854,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000587226.5"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ISOC2",
"gene_hgnc_id": 26278,
"hgvs_c": "c.351C>G",
"hgvs_p": "p.Asn117Lys",
"transcript": "ENST00000589080.1",
"protein_id": "ENSP00000467111.1",
"transcript_support_level": 2,
"aa_start": 117,
"aa_end": null,
"aa_length": 173,
"cds_start": 351,
"cds_end": null,
"cds_length": 524,
"cdna_start": 590,
"cdna_end": null,
"cdna_length": 763,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589080.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ISOC2",
"gene_hgnc_id": 26278,
"hgvs_c": "c.141C>G",
"hgvs_p": "p.Asn47Lys",
"transcript": "NM_001136202.2",
"protein_id": "NP_001129674.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 135,
"cds_start": 141,
"cds_end": null,
"cds_length": 408,
"cdna_start": 275,
"cdna_end": null,
"cdna_length": 865,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001136202.2"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ISOC2",
"gene_hgnc_id": 26278,
"hgvs_c": "c.141C>G",
"hgvs_p": "p.Asn47Lys",
"transcript": "ENST00000438389.6",
"protein_id": "ENSP00000406364.1",
"transcript_support_level": 2,
"aa_start": 47,
"aa_end": null,
"aa_length": 135,
"cds_start": 141,
"cds_end": null,
"cds_length": 408,
"cdna_start": 976,
"cdna_end": null,
"cdna_length": 1566,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438389.6"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ISOC2",
"gene_hgnc_id": 26278,
"hgvs_c": "c.141C>G",
"hgvs_p": "p.Asn47Lys",
"transcript": "ENST00000910872.1",
"protein_id": "ENSP00000580931.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 135,
"cds_start": 141,
"cds_end": null,
"cds_length": 408,
"cdna_start": 396,
"cdna_end": null,
"cdna_length": 986,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910872.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ISOC2",
"gene_hgnc_id": 26278,
"hgvs_c": "c.141C>G",
"hgvs_p": "p.Asn47Lys",
"transcript": "ENST00000927670.1",
"protein_id": "ENSP00000597729.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 135,
"cds_start": 141,
"cds_end": null,
"cds_length": 408,
"cdna_start": 236,
"cdna_end": null,
"cdna_length": 833,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927670.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ISOC2",
"gene_hgnc_id": 26278,
"hgvs_c": "c.141C>G",
"hgvs_p": "p.Asn47Lys",
"transcript": "ENST00000927672.1",
"protein_id": "ENSP00000597731.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 135,
"cds_start": 141,
"cds_end": null,
"cds_length": 408,
"cdna_start": 435,
"cdna_end": null,
"cdna_length": 1032,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927672.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ISOC2",
"gene_hgnc_id": 26278,
"hgvs_c": "c.141C>G",
"hgvs_p": "p.Asn47Lys",
"transcript": "ENST00000927677.1",
"protein_id": "ENSP00000597736.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 135,
"cds_start": 141,
"cds_end": null,
"cds_length": 408,
"cdna_start": 555,
"cdna_end": null,
"cdna_length": 1141,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927677.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ISOC2",
"gene_hgnc_id": 26278,
"hgvs_c": "c.138+1021C>G",
"hgvs_p": null,
"transcript": "ENST00000927674.1",
"protein_id": "ENSP00000597733.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 72,
"cds_start": null,
"cds_end": null,
"cds_length": 219,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 675,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927674.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ISOC2",
"gene_hgnc_id": 26278,
"hgvs_c": "c.138+1021C>G",
"hgvs_p": null,
"transcript": "ENST00000910868.1",
"protein_id": "ENSP00000580927.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 66,
"cds_start": null,
"cds_end": null,
"cds_length": 201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 677,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910868.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ISOC2",
"gene_hgnc_id": 26278,
"hgvs_c": "n.258C>G",
"hgvs_p": null,
"transcript": "ENST00000590921.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 2283,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000590921.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ISOC2",
"gene_hgnc_id": 26278,
"hgvs_c": "n.*4C>G",
"hgvs_p": null,
"transcript": "ENST00000591718.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 786,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000591718.1"
}
],
"gene_symbol": "ISOC2",
"gene_hgnc_id": 26278,
"dbsnp": "rs1448712116",
"frequency_reference_population": 6.84075e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84075e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.37423771619796753,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.44999998807907104,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.102,
"revel_prediction": "Benign",
"alphamissense_score": 0.7295,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.41,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.45,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_024710.3",
"gene_symbol": "ISOC2",
"hgnc_id": 26278,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.399C>G",
"hgvs_p": "p.Asn133Lys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}