← 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: 9-137449406-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=137449406&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 137449406,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_001130969.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMF",
"gene_hgnc_id": 29843,
"hgvs_c": "c.1581C>T",
"hgvs_p": "p.Asp527Asp",
"transcript": "NM_001130969.3",
"protein_id": "NP_001124441.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 530,
"cds_start": 1581,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000371475.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130969.3"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMF",
"gene_hgnc_id": 29843,
"hgvs_c": "c.1581C>T",
"hgvs_p": "p.Asp527Asp",
"transcript": "ENST00000371475.9",
"protein_id": "ENSP00000360530.3",
"transcript_support_level": 1,
"aa_start": 527,
"aa_end": null,
"aa_length": 530,
"cds_start": 1581,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001130969.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371475.9"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMF",
"gene_hgnc_id": 29843,
"hgvs_c": "c.1575C>T",
"hgvs_p": "p.Asp525Asp",
"transcript": "ENST00000265663.12",
"protein_id": "ENSP00000265663.7",
"transcript_support_level": 1,
"aa_start": 525,
"aa_end": null,
"aa_length": 528,
"cds_start": 1575,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265663.12"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMF",
"gene_hgnc_id": 29843,
"hgvs_c": "c.1575C>T",
"hgvs_p": "p.Asp525Asp",
"transcript": "ENST00000371472.6",
"protein_id": "ENSP00000360527.1",
"transcript_support_level": 2,
"aa_start": 525,
"aa_end": null,
"aa_length": 528,
"cds_start": 1575,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371472.6"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMF",
"gene_hgnc_id": 29843,
"hgvs_c": "c.1506C>T",
"hgvs_p": "p.Asp502Asp",
"transcript": "ENST00000371474.7",
"protein_id": "ENSP00000360529.3",
"transcript_support_level": 1,
"aa_start": 502,
"aa_end": null,
"aa_length": 505,
"cds_start": 1506,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371474.7"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMF",
"gene_hgnc_id": 29843,
"hgvs_c": "c.1491C>T",
"hgvs_p": "p.Asp497Asp",
"transcript": "ENST00000371473.7",
"protein_id": "ENSP00000360528.3",
"transcript_support_level": 1,
"aa_start": 497,
"aa_end": null,
"aa_length": 500,
"cds_start": 1491,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371473.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMF",
"gene_hgnc_id": 29843,
"hgvs_c": "n.1707C>T",
"hgvs_p": null,
"transcript": "ENST00000371482.5",
"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": "retained_intron",
"feature": "ENST00000371482.5"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMF",
"gene_hgnc_id": 29843,
"hgvs_c": "c.1800C>T",
"hgvs_p": "p.Asp600Asp",
"transcript": "ENST00000934994.1",
"protein_id": "ENSP00000605053.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 603,
"cds_start": 1800,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934994.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMF",
"gene_hgnc_id": 29843,
"hgvs_c": "c.1761C>T",
"hgvs_p": "p.Asp587Asp",
"transcript": "ENST00000935000.1",
"protein_id": "ENSP00000605059.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 590,
"cds_start": 1761,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935000.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMF",
"gene_hgnc_id": 29843,
"hgvs_c": "c.1731C>T",
"hgvs_p": "p.Asp577Asp",
"transcript": "ENST00000934996.1",
"protein_id": "ENSP00000605055.1",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 580,
"cds_start": 1731,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934996.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMF",
"gene_hgnc_id": 29843,
"hgvs_c": "c.1617C>T",
"hgvs_p": "p.Asp539Asp",
"transcript": "ENST00000961356.1",
"protein_id": "ENSP00000631415.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 542,
"cds_start": 1617,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961356.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMF",
"gene_hgnc_id": 29843,
"hgvs_c": "c.1599C>T",
"hgvs_p": "p.Asp533Asp",
"transcript": "ENST00000861168.1",
"protein_id": "ENSP00000531227.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 536,
"cds_start": 1599,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861168.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMF",
"gene_hgnc_id": 29843,
"hgvs_c": "c.1575C>T",
"hgvs_p": "p.Asp525Asp",
"transcript": "NM_015537.5",
"protein_id": "NP_056352.3",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 528,
"cds_start": 1575,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015537.5"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMF",
"gene_hgnc_id": 29843,
"hgvs_c": "c.1575C>T",
"hgvs_p": "p.Asp525Asp",
"transcript": "ENST00000934993.1",
"protein_id": "ENSP00000605052.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 528,
"cds_start": 1575,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934993.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMF",
"gene_hgnc_id": 29843,
"hgvs_c": "c.1566C>T",
"hgvs_p": "p.Asp522Asp",
"transcript": "ENST00000934998.1",
"protein_id": "ENSP00000605057.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 525,
"cds_start": 1566,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934998.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMF",
"gene_hgnc_id": 29843,
"hgvs_c": "c.1566C>T",
"hgvs_p": "p.Asp522Asp",
"transcript": "ENST00000961354.1",
"protein_id": "ENSP00000631413.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 525,
"cds_start": 1566,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961354.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMF",
"gene_hgnc_id": 29843,
"hgvs_c": "c.1566C>T",
"hgvs_p": "p.Asp522Asp",
"transcript": "ENST00000961355.1",
"protein_id": "ENSP00000631414.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 525,
"cds_start": 1566,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961355.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMF",
"gene_hgnc_id": 29843,
"hgvs_c": "c.1560C>T",
"hgvs_p": "p.Asp520Asp",
"transcript": "ENST00000934995.1",
"protein_id": "ENSP00000605054.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 523,
"cds_start": 1560,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934995.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMF",
"gene_hgnc_id": 29843,
"hgvs_c": "c.1512C>T",
"hgvs_p": "p.Asp504Asp",
"transcript": "NM_001130970.2",
"protein_id": "NP_001124442.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 507,
"cds_start": 1512,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130970.2"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMF",
"gene_hgnc_id": 29843,
"hgvs_c": "c.1512C>T",
"hgvs_p": "p.Asp504Asp",
"transcript": "ENST00000437259.5",
"protein_id": "ENSP00000412007.1",
"transcript_support_level": 5,
"aa_start": 504,
"aa_end": null,
"aa_length": 507,
"cds_start": 1512,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000437259.5"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMF",
"gene_hgnc_id": 29843,
"hgvs_c": "c.1506C>T",
"hgvs_p": "p.Asp502Asp",
"transcript": "NM_001130971.2",
"protein_id": "NP_001124443.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 505,
"cds_start": 1506,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130971.2"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMF",
"gene_hgnc_id": 29843,
"hgvs_c": "c.1497C>T",
"hgvs_p": "p.Asp499Asp",
"transcript": "ENST00000934999.1",
"protein_id": "ENSP00000605058.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 502,
"cds_start": 1497,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934999.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMF",
"gene_hgnc_id": 29843,
"hgvs_c": "c.1491C>T",
"hgvs_p": "p.Asp497Asp",
"transcript": "NM_001178064.2",
"protein_id": "NP_001171535.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 500,
"cds_start": 1491,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001178064.2"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMF",
"gene_hgnc_id": 29843,
"hgvs_c": "c.1491C>T",
"hgvs_p": "p.Asp497Asp",
"transcript": "ENST00000961357.1",
"protein_id": "ENSP00000631416.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 500,
"cds_start": 1491,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961357.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMF",
"gene_hgnc_id": 29843,
"hgvs_c": "c.1485C>T",
"hgvs_p": "p.Asp495Asp",
"transcript": "ENST00000861167.1",
"protein_id": "ENSP00000531226.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 498,
"cds_start": 1485,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861167.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMF",
"gene_hgnc_id": 29843,
"hgvs_c": "c.1476C>T",
"hgvs_p": "p.Asp492Asp",
"transcript": "ENST00000961353.1",
"protein_id": "ENSP00000631412.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 495,
"cds_start": 1476,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961353.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMF",
"gene_hgnc_id": 29843,
"hgvs_c": "c.1473C>T",
"hgvs_p": "p.Asp491Asp",
"transcript": "ENST00000934992.1",
"protein_id": "ENSP00000605051.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 494,
"cds_start": 1473,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934992.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMF",
"gene_hgnc_id": 29843,
"hgvs_c": "c.1416C>T",
"hgvs_p": "p.Asp472Asp",
"transcript": "ENST00000861166.1",
"protein_id": "ENSP00000531225.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 475,
"cds_start": 1416,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861166.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMF",
"gene_hgnc_id": 29843,
"hgvs_c": "c.1485C>T",
"hgvs_p": "p.Asp495Asp",
"transcript": "XM_005266061.6",
"protein_id": "XP_005266118.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 498,
"cds_start": 1485,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005266061.6"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMF",
"gene_hgnc_id": 29843,
"hgvs_c": "c.1422C>T",
"hgvs_p": "p.Asp474Asp",
"transcript": "XM_011518496.4",
"protein_id": "XP_011516798.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 477,
"cds_start": 1422,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518496.4"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMF",
"gene_hgnc_id": 29843,
"hgvs_c": "c.1416C>T",
"hgvs_p": "p.Asp472Asp",
"transcript": "XM_005266062.6",
"protein_id": "XP_005266119.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 475,
"cds_start": 1416,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005266062.6"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMF",
"gene_hgnc_id": 29843,
"hgvs_c": "c.1143C>T",
"hgvs_p": "p.Asp381Asp",
"transcript": "XM_011518497.3",
"protein_id": "XP_011516799.2",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 384,
"cds_start": 1143,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518497.3"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMF",
"gene_hgnc_id": 29843,
"hgvs_c": "c.1053C>T",
"hgvs_p": "p.Asp351Asp",
"transcript": "XM_017014597.3",
"protein_id": "XP_016870086.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 354,
"cds_start": 1053,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017014597.3"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMF",
"gene_hgnc_id": 29843,
"hgvs_c": "n.*201C>T",
"hgvs_p": null,
"transcript": "ENST00000484316.5",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000484316.5"
}
],
"gene_symbol": "NSMF",
"gene_hgnc_id": 29843,
"dbsnp": "rs369489711",
"frequency_reference_population": 0.0000037206441,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000342372,
"gnomad_genomes_af": 0.00000656918,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8199999928474426,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.82,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.312,
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BS2",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001130969.3",
"gene_symbol": "NSMF",
"hgnc_id": 29843,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1581C>T",
"hgvs_p": "p.Asp527Asp"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}