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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 5-177273743-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=177273743&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 177273743,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000439151.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.5581C>A",
"hgvs_p": "p.Arg1861Arg",
"transcript": "NM_022455.5",
"protein_id": "NP_071900.2",
"transcript_support_level": null,
"aa_start": 1861,
"aa_end": null,
"aa_length": 2696,
"cds_start": 5581,
"cds_end": null,
"cds_length": 8091,
"cdna_start": 5778,
"cdna_end": null,
"cdna_length": 13042,
"mane_select": "ENST00000439151.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.5581C>A",
"hgvs_p": "p.Arg1861Arg",
"transcript": "ENST00000439151.7",
"protein_id": "ENSP00000395929.2",
"transcript_support_level": 1,
"aa_start": 1861,
"aa_end": null,
"aa_length": 2696,
"cds_start": 5581,
"cds_end": null,
"cds_length": 8091,
"cdna_start": 5778,
"cdna_end": null,
"cdna_length": 13042,
"mane_select": "NM_022455.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.4708C>A",
"hgvs_p": "p.Arg1570Arg",
"transcript": "ENST00000347982.9",
"protein_id": "ENSP00000343209.5",
"transcript_support_level": 1,
"aa_start": 1570,
"aa_end": null,
"aa_length": 2405,
"cds_start": 4708,
"cds_end": null,
"cds_length": 7218,
"cdna_start": 4875,
"cdna_end": null,
"cdna_length": 7688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.5581C>A",
"hgvs_p": "p.Arg1861Arg",
"transcript": "NM_001409301.1",
"protein_id": "NP_001396230.1",
"transcript_support_level": null,
"aa_start": 1861,
"aa_end": null,
"aa_length": 2696,
"cds_start": 5581,
"cds_end": null,
"cds_length": 8091,
"cdna_start": 5735,
"cdna_end": null,
"cdna_length": 12999,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.5581C>A",
"hgvs_p": "p.Arg1861Arg",
"transcript": "NM_001409302.1",
"protein_id": "NP_001396231.1",
"transcript_support_level": null,
"aa_start": 1861,
"aa_end": null,
"aa_length": 2696,
"cds_start": 5581,
"cds_end": null,
"cds_length": 8091,
"cdna_start": 5738,
"cdna_end": null,
"cdna_length": 13002,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.5581C>A",
"hgvs_p": "p.Arg1861Arg",
"transcript": "NM_001409303.1",
"protein_id": "NP_001396232.1",
"transcript_support_level": null,
"aa_start": 1861,
"aa_end": null,
"aa_length": 2696,
"cds_start": 5581,
"cds_end": null,
"cds_length": 8091,
"cdna_start": 5633,
"cdna_end": null,
"cdna_length": 12897,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.5272C>A",
"hgvs_p": "p.Arg1758Arg",
"transcript": "ENST00000687453.1",
"protein_id": "ENSP00000508426.1",
"transcript_support_level": null,
"aa_start": 1758,
"aa_end": null,
"aa_length": 2593,
"cds_start": 5272,
"cds_end": null,
"cds_length": 7782,
"cdna_start": 5290,
"cdna_end": null,
"cdna_length": 8098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.5161C>A",
"hgvs_p": "p.Arg1721Arg",
"transcript": "NM_001409304.1",
"protein_id": "NP_001396233.1",
"transcript_support_level": null,
"aa_start": 1721,
"aa_end": null,
"aa_length": 2556,
"cds_start": 5161,
"cds_end": null,
"cds_length": 7671,
"cdna_start": 5315,
"cdna_end": null,
"cdna_length": 12579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.4828C>A",
"hgvs_p": "p.Arg1610Arg",
"transcript": "NM_001409305.1",
"protein_id": "NP_001396234.1",
"transcript_support_level": null,
"aa_start": 1610,
"aa_end": null,
"aa_length": 2445,
"cds_start": 4828,
"cds_end": null,
"cds_length": 7338,
"cdna_start": 5115,
"cdna_end": null,
"cdna_length": 12379,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.4819C>A",
"hgvs_p": "p.Arg1607Arg",
"transcript": "NM_001409306.1",
"protein_id": "NP_001396235.1",
"transcript_support_level": null,
"aa_start": 1607,
"aa_end": null,
"aa_length": 2442,
"cds_start": 4819,
"cds_end": null,
"cds_length": 7329,
"cdna_start": 5106,
"cdna_end": null,
"cdna_length": 12370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.4819C>A",
"hgvs_p": "p.Arg1607Arg",
"transcript": "NM_001409307.1",
"protein_id": "NP_001396236.1",
"transcript_support_level": null,
"aa_start": 1607,
"aa_end": null,
"aa_length": 2442,
"cds_start": 4819,
"cds_end": null,
"cds_length": 7329,
"cdna_start": 5109,
"cdna_end": null,
"cdna_length": 12373,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.4708C>A",
"hgvs_p": "p.Arg1570Arg",
"transcript": "NM_001365684.2",
"protein_id": "NP_001352613.2",
"transcript_support_level": null,
"aa_start": 1570,
"aa_end": null,
"aa_length": 2405,
"cds_start": 4708,
"cds_end": null,
"cds_length": 7218,
"cdna_start": 4968,
"cdna_end": null,
"cdna_length": 12232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.4708C>A",
"hgvs_p": "p.Arg1570Arg",
"transcript": "NM_001409308.1",
"protein_id": "NP_001396237.1",
"transcript_support_level": null,
"aa_start": 1570,
"aa_end": null,
"aa_length": 2405,
"cds_start": 4708,
"cds_end": null,
"cds_length": 7218,
"cdna_start": 4995,
"cdna_end": null,
"cdna_length": 12259,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.4708C>A",
"hgvs_p": "p.Arg1570Arg",
"transcript": "NM_172349.5",
"protein_id": "NP_758859.2",
"transcript_support_level": null,
"aa_start": 1570,
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"aa_length": 2405,
"cds_start": 4708,
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"cdna_start": 4998,
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"cdna_length": 12262,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.4708C>A",
"hgvs_p": "p.Arg1570Arg",
"transcript": "ENST00000354179.9",
"protein_id": "ENSP00000346111.5",
"transcript_support_level": 5,
"aa_start": 1570,
"aa_end": null,
"aa_length": 2405,
"cds_start": 4708,
"cds_end": null,
"cds_length": 7218,
"cdna_start": 4934,
"cdna_end": null,
"cdna_length": 12136,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.4708C>A",
"hgvs_p": "p.Arg1570Arg",
"transcript": "ENST00000508896.7",
"protein_id": "ENSP00000423372.3",
"transcript_support_level": 3,
"aa_start": 1570,
"aa_end": null,
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"cdna_start": 4963,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.4708C>A",
"hgvs_p": "p.Arg1570Arg",
"transcript": "ENST00000686993.1",
"protein_id": "ENSP00000510020.1",
"transcript_support_level": null,
"aa_start": 1570,
"aa_end": null,
"aa_length": 2405,
"cds_start": 4708,
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"cds_length": 7218,
"cdna_start": 4893,
"cdna_end": null,
"cdna_length": 12157,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.4708C>A",
"hgvs_p": "p.Arg1570Arg",
"transcript": "ENST00000689345.1",
"protein_id": "ENSP00000509711.1",
"transcript_support_level": null,
"aa_start": 1570,
"aa_end": null,
"aa_length": 2405,
"cds_start": 4708,
"cds_end": null,
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"cdna_start": 4911,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.4708C>A",
"hgvs_p": "p.Arg1570Arg",
"transcript": "NM_001409309.1",
"protein_id": "NP_001396238.1",
"transcript_support_level": null,
"aa_start": 1570,
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"aa_length": 2322,
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"cdna_start": 4893,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.223C>A",
"hgvs_p": "p.Arg75Arg",
"transcript": "ENST00000503056.6",
"protein_id": "ENSP00000424024.2",
"transcript_support_level": 5,
"aa_start": 75,
"aa_end": null,
"aa_length": 910,
"cds_start": 223,
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"cdna_start": 518,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "c.223C>A",
"hgvs_p": "p.Arg75Arg",
"transcript": "ENST00000508029.6",
"protein_id": "ENSP00000425120.2",
"transcript_support_level": 2,
"aa_start": 75,
"aa_end": null,
"aa_length": 910,
"cds_start": 223,
"cds_end": null,
"cds_length": 2733,
"cdna_start": 682,
"cdna_end": null,
"cdna_length": 3192,
"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": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "n.5164C>A",
"hgvs_p": null,
"transcript": "ENST00000685206.1",
"protein_id": null,
"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": 7863,
"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": "NSD1",
"gene_hgnc_id": 14234,
"hgvs_c": "n.330C>A",
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},
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{
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},
{
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}
],
"gene_symbol": "NSD1",
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"hom_count_reference_population": 0,
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"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
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"computational_score_selected": -0.20000000298023224,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": null,
"alphamissense_score": null,
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"bayesdelnoaf_score": -0.2,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.836,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"mitotip_score": null,
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"acmg_score": -1,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
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"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000439151.7",
"gene_symbol": "NSD1",
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"effects": [
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],
"inheritance_mode": "AD",
"hgvs_c": "c.5581C>A",
"hgvs_p": "p.Arg1861Arg"
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}