← 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: 17-8475843-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=8475843&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 8475843,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_001256012.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "c.5985C>T",
"hgvs_p": "p.Thr1995Thr",
"transcript": "NM_001256012.3",
"protein_id": "NP_001242941.1",
"transcript_support_level": null,
"aa_start": 1995,
"aa_end": null,
"aa_length": 2007,
"cds_start": 5985,
"cds_end": null,
"cds_length": 6024,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000360416.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256012.3"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "c.5985C>T",
"hgvs_p": "p.Thr1995Thr",
"transcript": "ENST00000360416.8",
"protein_id": "ENSP00000353590.4",
"transcript_support_level": 1,
"aa_start": 1995,
"aa_end": null,
"aa_length": 2007,
"cds_start": 5985,
"cds_end": null,
"cds_length": 6024,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001256012.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360416.8"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "c.5919C>T",
"hgvs_p": "p.Thr1973Thr",
"transcript": "ENST00000379980.8",
"protein_id": "ENSP00000369315.5",
"transcript_support_level": 1,
"aa_start": 1973,
"aa_end": null,
"aa_length": 1985,
"cds_start": 5919,
"cds_end": null,
"cds_length": 5958,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379980.8"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "c.5892C>T",
"hgvs_p": "p.Thr1964Thr",
"transcript": "ENST00000269243.8",
"protein_id": "ENSP00000269243.4",
"transcript_support_level": 1,
"aa_start": 1964,
"aa_end": null,
"aa_length": 1976,
"cds_start": 5892,
"cds_end": null,
"cds_length": 5931,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000269243.8"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "c.5985C>T",
"hgvs_p": "p.Thr1995Thr",
"transcript": "ENST00000686654.1",
"protein_id": "ENSP00000508862.1",
"transcript_support_level": null,
"aa_start": 1995,
"aa_end": null,
"aa_length": 2007,
"cds_start": 5985,
"cds_end": null,
"cds_length": 6024,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000686654.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "c.5985C>T",
"hgvs_p": "p.Thr1995Thr",
"transcript": "ENST00000688902.1",
"protein_id": "ENSP00000509091.1",
"transcript_support_level": null,
"aa_start": 1995,
"aa_end": null,
"aa_length": 2007,
"cds_start": 5985,
"cds_end": null,
"cds_length": 6024,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000688902.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "c.5985C>T",
"hgvs_p": "p.Thr1995Thr",
"transcript": "ENST00000693441.1",
"protein_id": "ENSP00000509241.1",
"transcript_support_level": null,
"aa_start": 1995,
"aa_end": null,
"aa_length": 2007,
"cds_start": 5985,
"cds_end": null,
"cds_length": 6024,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000693441.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "c.5940C>T",
"hgvs_p": "p.Thr1980Thr",
"transcript": "ENST00000916047.1",
"protein_id": "ENSP00000586106.1",
"transcript_support_level": null,
"aa_start": 1980,
"aa_end": null,
"aa_length": 1992,
"cds_start": 5940,
"cds_end": null,
"cds_length": 5979,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916047.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "c.5940C>T",
"hgvs_p": "p.Thr1980Thr",
"transcript": "ENST00000916051.1",
"protein_id": "ENSP00000586110.1",
"transcript_support_level": null,
"aa_start": 1980,
"aa_end": null,
"aa_length": 1992,
"cds_start": 5940,
"cds_end": null,
"cds_length": 5979,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916051.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "c.5940C>T",
"hgvs_p": "p.Thr1980Thr",
"transcript": "ENST00000916057.1",
"protein_id": "ENSP00000586116.1",
"transcript_support_level": null,
"aa_start": 1980,
"aa_end": null,
"aa_length": 1992,
"cds_start": 5940,
"cds_end": null,
"cds_length": 5979,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916057.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "c.5922C>T",
"hgvs_p": "p.Thr1974Thr",
"transcript": "NM_001375266.1",
"protein_id": "NP_001362195.1",
"transcript_support_level": null,
"aa_start": 1974,
"aa_end": null,
"aa_length": 1986,
"cds_start": 5922,
"cds_end": null,
"cds_length": 5961,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375266.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "c.5922C>T",
"hgvs_p": "p.Thr1974Thr",
"transcript": "ENST00000684843.1",
"protein_id": "ENSP00000509695.1",
"transcript_support_level": null,
"aa_start": 1974,
"aa_end": null,
"aa_length": 1986,
"cds_start": 5922,
"cds_end": null,
"cds_length": 5961,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684843.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "c.5922C>T",
"hgvs_p": "p.Thr1974Thr",
"transcript": "ENST00000692526.1",
"protein_id": "ENSP00000510471.1",
"transcript_support_level": null,
"aa_start": 1974,
"aa_end": null,
"aa_length": 1986,
"cds_start": 5922,
"cds_end": null,
"cds_length": 5961,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000692526.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "c.5922C>T",
"hgvs_p": "p.Thr1974Thr",
"transcript": "ENST00000916052.1",
"protein_id": "ENSP00000586111.1",
"transcript_support_level": null,
"aa_start": 1974,
"aa_end": null,
"aa_length": 1986,
"cds_start": 5922,
"cds_end": null,
"cds_length": 5961,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916052.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "c.5922C>T",
"hgvs_p": "p.Thr1974Thr",
"transcript": "ENST00000916056.1",
"protein_id": "ENSP00000586115.1",
"transcript_support_level": null,
"aa_start": 1974,
"aa_end": null,
"aa_length": 1986,
"cds_start": 5922,
"cds_end": null,
"cds_length": 5961,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916056.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "c.5922C>T",
"hgvs_p": "p.Thr1974Thr",
"transcript": "ENST00000955183.1",
"protein_id": "ENSP00000625242.1",
"transcript_support_level": null,
"aa_start": 1974,
"aa_end": null,
"aa_length": 1986,
"cds_start": 5922,
"cds_end": null,
"cds_length": 5961,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955183.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "c.5919C>T",
"hgvs_p": "p.Thr1973Thr",
"transcript": "NM_001256095.2",
"protein_id": "NP_001243024.1",
"transcript_support_level": null,
"aa_start": 1973,
"aa_end": null,
"aa_length": 1985,
"cds_start": 5919,
"cds_end": null,
"cds_length": 5958,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256095.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "c.5919C>T",
"hgvs_p": "p.Thr1973Thr",
"transcript": "ENST00000687178.1",
"protein_id": "ENSP00000509748.1",
"transcript_support_level": null,
"aa_start": 1973,
"aa_end": null,
"aa_length": 1985,
"cds_start": 5919,
"cds_end": null,
"cds_length": 5958,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000687178.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "c.5919C>T",
"hgvs_p": "p.Thr1973Thr",
"transcript": "ENST00000916048.1",
"protein_id": "ENSP00000586107.1",
"transcript_support_level": null,
"aa_start": 1973,
"aa_end": null,
"aa_length": 1985,
"cds_start": 5919,
"cds_end": null,
"cds_length": 5958,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916048.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "c.5892C>T",
"hgvs_p": "p.Thr1964Thr",
"transcript": "NM_005964.5",
"protein_id": "NP_005955.3",
"transcript_support_level": null,
"aa_start": 1964,
"aa_end": null,
"aa_length": 1976,
"cds_start": 5892,
"cds_end": null,
"cds_length": 5931,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005964.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "c.5892C>T",
"hgvs_p": "p.Thr1964Thr",
"transcript": "ENST00000916044.1",
"protein_id": "ENSP00000586103.1",
"transcript_support_level": null,
"aa_start": 1964,
"aa_end": null,
"aa_length": 1976,
"cds_start": 5892,
"cds_end": null,
"cds_length": 5931,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916044.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "c.5892C>T",
"hgvs_p": "p.Thr1964Thr",
"transcript": "ENST00000916045.1",
"protein_id": "ENSP00000586104.1",
"transcript_support_level": null,
"aa_start": 1964,
"aa_end": null,
"aa_length": 1976,
"cds_start": 5892,
"cds_end": null,
"cds_length": 5931,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916045.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "c.5892C>T",
"hgvs_p": "p.Thr1964Thr",
"transcript": "ENST00000916046.1",
"protein_id": "ENSP00000586105.1",
"transcript_support_level": null,
"aa_start": 1964,
"aa_end": null,
"aa_length": 1976,
"cds_start": 5892,
"cds_end": null,
"cds_length": 5931,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916046.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "c.5892C>T",
"hgvs_p": "p.Thr1964Thr",
"transcript": "ENST00000916050.1",
"protein_id": "ENSP00000586109.1",
"transcript_support_level": null,
"aa_start": 1964,
"aa_end": null,
"aa_length": 1976,
"cds_start": 5892,
"cds_end": null,
"cds_length": 5931,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916050.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "c.5892C>T",
"hgvs_p": "p.Thr1964Thr",
"transcript": "ENST00000916053.1",
"protein_id": "ENSP00000586112.1",
"transcript_support_level": null,
"aa_start": 1964,
"aa_end": null,
"aa_length": 1976,
"cds_start": 5892,
"cds_end": null,
"cds_length": 5931,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916053.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "c.5892C>T",
"hgvs_p": "p.Thr1964Thr",
"transcript": "ENST00000916054.1",
"protein_id": "ENSP00000586113.1",
"transcript_support_level": null,
"aa_start": 1964,
"aa_end": null,
"aa_length": 1976,
"cds_start": 5892,
"cds_end": null,
"cds_length": 5931,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916054.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "c.5892C>T",
"hgvs_p": "p.Thr1964Thr",
"transcript": "ENST00000916055.1",
"protein_id": "ENSP00000586114.1",
"transcript_support_level": null,
"aa_start": 1964,
"aa_end": null,
"aa_length": 1976,
"cds_start": 5892,
"cds_end": null,
"cds_length": 5931,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916055.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "c.5892C>T",
"hgvs_p": "p.Thr1964Thr",
"transcript": "ENST00000916063.1",
"protein_id": "ENSP00000586122.1",
"transcript_support_level": null,
"aa_start": 1964,
"aa_end": null,
"aa_length": 1976,
"cds_start": 5892,
"cds_end": null,
"cds_length": 5931,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916063.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "c.5892C>T",
"hgvs_p": "p.Thr1964Thr",
"transcript": "ENST00000916064.1",
"protein_id": "ENSP00000586123.1",
"transcript_support_level": null,
"aa_start": 1964,
"aa_end": null,
"aa_length": 1976,
"cds_start": 5892,
"cds_end": null,
"cds_length": 5931,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916064.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "c.5892C>T",
"hgvs_p": "p.Thr1964Thr",
"transcript": "ENST00000916065.1",
"protein_id": "ENSP00000586124.1",
"transcript_support_level": null,
"aa_start": 1964,
"aa_end": null,
"aa_length": 1976,
"cds_start": 5892,
"cds_end": null,
"cds_length": 5931,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916065.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "c.5892C>T",
"hgvs_p": "p.Thr1964Thr",
"transcript": "ENST00000955185.1",
"protein_id": "ENSP00000625244.1",
"transcript_support_level": null,
"aa_start": 1964,
"aa_end": null,
"aa_length": 1976,
"cds_start": 5892,
"cds_end": null,
"cds_length": 5931,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955185.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "c.5889C>T",
"hgvs_p": "p.Thr1963Thr",
"transcript": "ENST00000916062.1",
"protein_id": "ENSP00000586121.1",
"transcript_support_level": null,
"aa_start": 1963,
"aa_end": null,
"aa_length": 1975,
"cds_start": 5889,
"cds_end": null,
"cds_length": 5928,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916062.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "c.5817C>T",
"hgvs_p": "p.Thr1939Thr",
"transcript": "ENST00000916059.1",
"protein_id": "ENSP00000586118.1",
"transcript_support_level": null,
"aa_start": 1939,
"aa_end": null,
"aa_length": 1951,
"cds_start": 5817,
"cds_end": null,
"cds_length": 5856,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916059.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "c.5787C>T",
"hgvs_p": "p.Thr1929Thr",
"transcript": "ENST00000955184.1",
"protein_id": "ENSP00000625243.1",
"transcript_support_level": null,
"aa_start": 1929,
"aa_end": null,
"aa_length": 1941,
"cds_start": 5787,
"cds_end": null,
"cds_length": 5826,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955184.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "c.5691C>T",
"hgvs_p": "p.Thr1897Thr",
"transcript": "ENST00000916061.1",
"protein_id": "ENSP00000586120.1",
"transcript_support_level": null,
"aa_start": 1897,
"aa_end": null,
"aa_length": 1909,
"cds_start": 5691,
"cds_end": null,
"cds_length": 5730,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916061.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "c.5661C>T",
"hgvs_p": "p.Thr1887Thr",
"transcript": "ENST00000916049.1",
"protein_id": "ENSP00000586108.1",
"transcript_support_level": null,
"aa_start": 1887,
"aa_end": null,
"aa_length": 1899,
"cds_start": 5661,
"cds_end": null,
"cds_length": 5700,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916049.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "c.5634C>T",
"hgvs_p": "p.Thr1878Thr",
"transcript": "ENST00000916060.1",
"protein_id": "ENSP00000586119.1",
"transcript_support_level": null,
"aa_start": 1878,
"aa_end": null,
"aa_length": 1890,
"cds_start": 5634,
"cds_end": null,
"cds_length": 5673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916060.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "c.5499C>T",
"hgvs_p": "p.Thr1833Thr",
"transcript": "ENST00000916058.1",
"protein_id": "ENSP00000586117.1",
"transcript_support_level": null,
"aa_start": 1833,
"aa_end": null,
"aa_length": 1845,
"cds_start": 5499,
"cds_end": null,
"cds_length": 5538,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916058.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NDEL1",
"gene_hgnc_id": 17620,
"hgvs_c": "c.417-14404G>A",
"hgvs_p": null,
"transcript": "ENST00000581679.1",
"protein_id": "ENSP00000464634.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 192,
"cds_start": null,
"cds_end": null,
"cds_length": 581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000581679.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "n.*5189C>T",
"hgvs_p": null,
"transcript": "ENST00000685418.1",
"protein_id": "ENSP00000510761.1",
"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": "ENST00000685418.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "n.6890C>T",
"hgvs_p": null,
"transcript": "ENST00000685631.1",
"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": "ENST00000685631.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "n.7517C>T",
"hgvs_p": null,
"transcript": "ENST00000686521.1",
"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": "ENST00000686521.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "n.*5267C>T",
"hgvs_p": null,
"transcript": "ENST00000688497.1",
"protein_id": "ENSP00000509831.1",
"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": "ENST00000688497.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "n.8955C>T",
"hgvs_p": null,
"transcript": "ENST00000691566.1",
"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": "ENST00000691566.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "n.*5189C>T",
"hgvs_p": null,
"transcript": "ENST00000685418.1",
"protein_id": "ENSP00000510761.1",
"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": "ENST00000685418.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"hgvs_c": "n.*5267C>T",
"hgvs_p": null,
"transcript": "ENST00000688497.1",
"protein_id": "ENSP00000509831.1",
"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": "ENST00000688497.1"
}
],
"gene_symbol": "MYH10",
"gene_hgnc_id": 7568,
"dbsnp": "rs77306726",
"frequency_reference_population": 0.0004076373,
"hom_count_reference_population": 4,
"allele_count_reference_population": 658,
"gnomad_exomes_af": 0.000214791,
"gnomad_genomes_af": 0.00225876,
"gnomad_exomes_ac": 314,
"gnomad_genomes_ac": 344,
"gnomad_exomes_homalt": 3,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5299999713897705,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.17,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001256012.3",
"gene_symbol": "MYH10",
"hgnc_id": 7568,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.5985C>T",
"hgvs_p": "p.Thr1995Thr"
},
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000581679.1",
"gene_symbol": "NDEL1",
"hgnc_id": 17620,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.417-14404G>A",
"hgvs_p": null
}
],
"clinvar_disease": "MYH10-related disorder,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided|MYH10-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}