← 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: 4-1978885-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=1978885&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 1978885,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001440893.1",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.4074G>T",
"hgvs_p": "p.Trp1358Cys",
"transcript": "NM_001042424.3",
"protein_id": "NP_001035889.1",
"transcript_support_level": null,
"aa_start": 1358,
"aa_end": null,
"aa_length": 1365,
"cds_start": 4074,
"cds_end": null,
"cds_length": 4098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000508803.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042424.3"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.4074G>T",
"hgvs_p": "p.Trp1358Cys",
"transcript": "ENST00000508803.6",
"protein_id": "ENSP00000423972.1",
"transcript_support_level": 1,
"aa_start": 1358,
"aa_end": null,
"aa_length": 1365,
"cds_start": 4074,
"cds_end": null,
"cds_length": 4098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001042424.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000508803.6"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.4074G>T",
"hgvs_p": "p.Trp1358Cys",
"transcript": "ENST00000382892.6",
"protein_id": "ENSP00000372348.2",
"transcript_support_level": 1,
"aa_start": 1358,
"aa_end": null,
"aa_length": 1365,
"cds_start": 4074,
"cds_end": null,
"cds_length": 4098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382892.6"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.4074G>T",
"hgvs_p": "p.Trp1358Cys",
"transcript": "ENST00000382895.7",
"protein_id": "ENSP00000372351.3",
"transcript_support_level": 1,
"aa_start": 1358,
"aa_end": null,
"aa_length": 1365,
"cds_start": 4074,
"cds_end": null,
"cds_length": 4098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382895.7"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.2118G>T",
"hgvs_p": "p.Trp706Cys",
"transcript": "ENST00000382888.3",
"protein_id": "ENSP00000372344.3",
"transcript_support_level": 1,
"aa_start": 706,
"aa_end": null,
"aa_length": 713,
"cds_start": 2118,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382888.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "n.*2357G>T",
"hgvs_p": null,
"transcript": "ENST00000312087.10",
"protein_id": "ENSP00000308780.6",
"transcript_support_level": 1,
"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": "ENST00000312087.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "n.*2224G>T",
"hgvs_p": null,
"transcript": "ENST00000353275.9",
"protein_id": "ENSP00000329167.5",
"transcript_support_level": 1,
"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": "ENST00000353275.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "n.2691G>T",
"hgvs_p": null,
"transcript": "ENST00000482415.6",
"protein_id": null,
"transcript_support_level": 1,
"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": "pseudogene",
"feature": "ENST00000482415.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "n.*2357G>T",
"hgvs_p": null,
"transcript": "ENST00000312087.10",
"protein_id": "ENSP00000308780.6",
"transcript_support_level": 1,
"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": "ENST00000312087.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "n.*2224G>T",
"hgvs_p": null,
"transcript": "ENST00000353275.9",
"protein_id": "ENSP00000329167.5",
"transcript_support_level": 1,
"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": "ENST00000353275.9"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.4173G>T",
"hgvs_p": "p.Trp1391Cys",
"transcript": "NM_001440893.1",
"protein_id": "NP_001427822.1",
"transcript_support_level": null,
"aa_start": 1391,
"aa_end": null,
"aa_length": 1398,
"cds_start": 4173,
"cds_end": null,
"cds_length": 4197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440893.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.4074G>T",
"hgvs_p": "p.Trp1358Cys",
"transcript": "NM_001440892.1",
"protein_id": "NP_001427821.1",
"transcript_support_level": null,
"aa_start": 1358,
"aa_end": null,
"aa_length": 1365,
"cds_start": 4074,
"cds_end": null,
"cds_length": 4098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440892.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.4074G>T",
"hgvs_p": "p.Trp1358Cys",
"transcript": "NM_133330.3",
"protein_id": "NP_579877.1",
"transcript_support_level": null,
"aa_start": 1358,
"aa_end": null,
"aa_length": 1365,
"cds_start": 4074,
"cds_end": null,
"cds_length": 4098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_133330.3"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.4074G>T",
"hgvs_p": "p.Trp1358Cys",
"transcript": "NM_133331.3",
"protein_id": "NP_579878.1",
"transcript_support_level": null,
"aa_start": 1358,
"aa_end": null,
"aa_length": 1365,
"cds_start": 4074,
"cds_end": null,
"cds_length": 4098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_133331.3"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.4074G>T",
"hgvs_p": "p.Trp1358Cys",
"transcript": "NM_133335.4",
"protein_id": "NP_579890.1",
"transcript_support_level": null,
"aa_start": 1358,
"aa_end": null,
"aa_length": 1365,
"cds_start": 4074,
"cds_end": null,
"cds_length": 4098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_133335.4"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.4074G>T",
"hgvs_p": "p.Trp1358Cys",
"transcript": "ENST00000382891.9",
"protein_id": "ENSP00000372347.5",
"transcript_support_level": 5,
"aa_start": 1358,
"aa_end": null,
"aa_length": 1365,
"cds_start": 4074,
"cds_end": null,
"cds_length": 4098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382891.9"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.4074G>T",
"hgvs_p": "p.Trp1358Cys",
"transcript": "ENST00000899091.1",
"protein_id": "ENSP00000569150.1",
"transcript_support_level": null,
"aa_start": 1358,
"aa_end": null,
"aa_length": 1365,
"cds_start": 4074,
"cds_end": null,
"cds_length": 4098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899091.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.4074G>T",
"hgvs_p": "p.Trp1358Cys",
"transcript": "ENST00000899092.1",
"protein_id": "ENSP00000569151.1",
"transcript_support_level": null,
"aa_start": 1358,
"aa_end": null,
"aa_length": 1365,
"cds_start": 4074,
"cds_end": null,
"cds_length": 4098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899092.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.4074G>T",
"hgvs_p": "p.Trp1358Cys",
"transcript": "ENST00000922145.1",
"protein_id": "ENSP00000592204.1",
"transcript_support_level": null,
"aa_start": 1358,
"aa_end": null,
"aa_length": 1365,
"cds_start": 4074,
"cds_end": null,
"cds_length": 4098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922145.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.4074G>T",
"hgvs_p": "p.Trp1358Cys",
"transcript": "ENST00000922150.1",
"protein_id": "ENSP00000592209.1",
"transcript_support_level": null,
"aa_start": 1358,
"aa_end": null,
"aa_length": 1365,
"cds_start": 4074,
"cds_end": null,
"cds_length": 4098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922150.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.4074G>T",
"hgvs_p": "p.Trp1358Cys",
"transcript": "ENST00000922155.1",
"protein_id": "ENSP00000592214.1",
"transcript_support_level": null,
"aa_start": 1358,
"aa_end": null,
"aa_length": 1365,
"cds_start": 4074,
"cds_end": null,
"cds_length": 4098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922155.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.3957G>T",
"hgvs_p": "p.Trp1319Cys",
"transcript": "NM_001440894.1",
"protein_id": "NP_001427823.1",
"transcript_support_level": null,
"aa_start": 1319,
"aa_end": null,
"aa_length": 1326,
"cds_start": 3957,
"cds_end": null,
"cds_length": 3981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440894.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.3957G>T",
"hgvs_p": "p.Trp1319Cys",
"transcript": "ENST00000922151.1",
"protein_id": "ENSP00000592210.1",
"transcript_support_level": null,
"aa_start": 1319,
"aa_end": null,
"aa_length": 1326,
"cds_start": 3957,
"cds_end": null,
"cds_length": 3981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922151.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.3957G>T",
"hgvs_p": "p.Trp1319Cys",
"transcript": "ENST00000922152.1",
"protein_id": "ENSP00000592211.1",
"transcript_support_level": null,
"aa_start": 1319,
"aa_end": null,
"aa_length": 1326,
"cds_start": 3957,
"cds_end": null,
"cds_length": 3981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922152.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.3927G>T",
"hgvs_p": "p.Trp1309Cys",
"transcript": "NM_001440895.1",
"protein_id": "NP_001427824.1",
"transcript_support_level": null,
"aa_start": 1309,
"aa_end": null,
"aa_length": 1316,
"cds_start": 3927,
"cds_end": null,
"cds_length": 3951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440895.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.3927G>T",
"hgvs_p": "p.Trp1309Cys",
"transcript": "ENST00000922149.1",
"protein_id": "ENSP00000592208.1",
"transcript_support_level": null,
"aa_start": 1309,
"aa_end": null,
"aa_length": 1316,
"cds_start": 3927,
"cds_end": null,
"cds_length": 3951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922149.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.3927G>T",
"hgvs_p": "p.Trp1309Cys",
"transcript": "ENST00000922153.1",
"protein_id": "ENSP00000592212.1",
"transcript_support_level": null,
"aa_start": 1309,
"aa_end": null,
"aa_length": 1316,
"cds_start": 3927,
"cds_end": null,
"cds_length": 3951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922153.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.3873G>T",
"hgvs_p": "p.Trp1291Cys",
"transcript": "NM_001440896.1",
"protein_id": "NP_001427825.1",
"transcript_support_level": null,
"aa_start": 1291,
"aa_end": null,
"aa_length": 1298,
"cds_start": 3873,
"cds_end": null,
"cds_length": 3897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440896.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.3867G>T",
"hgvs_p": "p.Trp1289Cys",
"transcript": "NM_001440897.1",
"protein_id": "NP_001427826.1",
"transcript_support_level": null,
"aa_start": 1289,
"aa_end": null,
"aa_length": 1296,
"cds_start": 3867,
"cds_end": null,
"cds_length": 3891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440897.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.3867G>T",
"hgvs_p": "p.Trp1289Cys",
"transcript": "ENST00000922144.1",
"protein_id": "ENSP00000592203.1",
"transcript_support_level": null,
"aa_start": 1289,
"aa_end": null,
"aa_length": 1296,
"cds_start": 3867,
"cds_end": null,
"cds_length": 3891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922144.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.3867G>T",
"hgvs_p": "p.Trp1289Cys",
"transcript": "ENST00000922146.1",
"protein_id": "ENSP00000592205.1",
"transcript_support_level": null,
"aa_start": 1289,
"aa_end": null,
"aa_length": 1296,
"cds_start": 3867,
"cds_end": null,
"cds_length": 3891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922146.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.3867G>T",
"hgvs_p": "p.Trp1289Cys",
"transcript": "ENST00000922148.1",
"protein_id": "ENSP00000592207.1",
"transcript_support_level": null,
"aa_start": 1289,
"aa_end": null,
"aa_length": 1296,
"cds_start": 3867,
"cds_end": null,
"cds_length": 3891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922148.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.3750G>T",
"hgvs_p": "p.Trp1250Cys",
"transcript": "NM_001440898.1",
"protein_id": "NP_001427827.1",
"transcript_support_level": null,
"aa_start": 1250,
"aa_end": null,
"aa_length": 1257,
"cds_start": 3750,
"cds_end": null,
"cds_length": 3774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440898.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.3750G>T",
"hgvs_p": "p.Trp1250Cys",
"transcript": "ENST00000922147.1",
"protein_id": "ENSP00000592206.1",
"transcript_support_level": null,
"aa_start": 1250,
"aa_end": null,
"aa_length": 1257,
"cds_start": 3750,
"cds_end": null,
"cds_length": 3774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922147.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.3720G>T",
"hgvs_p": "p.Trp1240Cys",
"transcript": "ENST00000922154.1",
"protein_id": "ENSP00000592213.1",
"transcript_support_level": null,
"aa_start": 1240,
"aa_end": null,
"aa_length": 1247,
"cds_start": 3720,
"cds_end": null,
"cds_length": 3744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922154.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.3105G>T",
"hgvs_p": "p.Trp1035Cys",
"transcript": "NM_001440899.1",
"protein_id": "NP_001427828.1",
"transcript_support_level": null,
"aa_start": 1035,
"aa_end": null,
"aa_length": 1042,
"cds_start": 3105,
"cds_end": null,
"cds_length": 3129,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440899.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.3105G>T",
"hgvs_p": "p.Trp1035Cys",
"transcript": "NM_001440900.1",
"protein_id": "NP_001427829.1",
"transcript_support_level": null,
"aa_start": 1035,
"aa_end": null,
"aa_length": 1042,
"cds_start": 3105,
"cds_end": null,
"cds_length": 3129,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440900.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.786G>T",
"hgvs_p": "p.Trp262Cys",
"transcript": "ENST00000677895.1",
"protein_id": "ENSP00000503076.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 269,
"cds_start": 786,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677895.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.4074G>T",
"hgvs_p": "p.Trp1358Cys",
"transcript": "XM_005248001.5",
"protein_id": "XP_005248058.1",
"transcript_support_level": null,
"aa_start": 1358,
"aa_end": null,
"aa_length": 1365,
"cds_start": 4074,
"cds_end": null,
"cds_length": 4098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005248001.5"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.4074G>T",
"hgvs_p": "p.Trp1358Cys",
"transcript": "XM_047416137.1",
"protein_id": "XP_047272093.1",
"transcript_support_level": null,
"aa_start": 1358,
"aa_end": null,
"aa_length": 1365,
"cds_start": 4074,
"cds_end": null,
"cds_length": 4098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416137.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.4074G>T",
"hgvs_p": "p.Trp1358Cys",
"transcript": "XM_047416139.1",
"protein_id": "XP_047272095.1",
"transcript_support_level": null,
"aa_start": 1358,
"aa_end": null,
"aa_length": 1365,
"cds_start": 4074,
"cds_end": null,
"cds_length": 4098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416139.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.3867G>T",
"hgvs_p": "p.Trp1289Cys",
"transcript": "XM_047416141.1",
"protein_id": "XP_047272097.1",
"transcript_support_level": null,
"aa_start": 1289,
"aa_end": null,
"aa_length": 1296,
"cds_start": 3867,
"cds_end": null,
"cds_length": 3891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416141.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.3867G>T",
"hgvs_p": "p.Trp1289Cys",
"transcript": "XM_047416142.1",
"protein_id": "XP_047272098.1",
"transcript_support_level": null,
"aa_start": 1289,
"aa_end": null,
"aa_length": 1296,
"cds_start": 3867,
"cds_end": null,
"cds_length": 3891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416142.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "c.1731G>T",
"hgvs_p": "p.Trp577Cys",
"transcript": "XM_011513560.3",
"protein_id": "XP_011511862.1",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 584,
"cds_start": 1731,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513560.3"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "n.575G>T",
"hgvs_p": null,
"transcript": "ENST00000508299.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000508299.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "n.*1840G>T",
"hgvs_p": null,
"transcript": "ENST00000677559.1",
"protein_id": "ENSP00000504406.1",
"transcript_support_level": null,
"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": "ENST00000677559.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "n.1264G>T",
"hgvs_p": null,
"transcript": "ENST00000679039.1",
"protein_id": null,
"transcript_support_level": null,
"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": "retained_intron",
"feature": "ENST00000679039.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"hgvs_c": "n.*1840G>T",
"hgvs_p": null,
"transcript": "ENST00000677559.1",
"protein_id": "ENSP00000504406.1",
"transcript_support_level": null,
"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": "ENST00000677559.1"
}
],
"gene_symbol": "NSD2",
"gene_hgnc_id": 12766,
"dbsnp": "rs1553881444",
"frequency_reference_population": 7.017534e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.01753e-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": 0.4942961037158966,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.567,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4992,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.09,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.127,
"phylop100way_prediction": "Uncertain_significance",
"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": 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_001440893.1",
"gene_symbol": "NSD2",
"hgnc_id": 12766,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.4173G>T",
"hgvs_p": "p.Trp1391Cys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}