← 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: 14-23389635-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=23389635&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 23389635,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_002471.4",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH6",
"gene_hgnc_id": 7576,
"hgvs_c": "c.3817A>C",
"hgvs_p": "p.Asn1273His",
"transcript": "NM_002471.4",
"protein_id": "NP_002462.2",
"transcript_support_level": null,
"aa_start": 1273,
"aa_end": null,
"aa_length": 1939,
"cds_start": 3817,
"cds_end": null,
"cds_length": 5820,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000405093.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002471.4"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH6",
"gene_hgnc_id": 7576,
"hgvs_c": "c.3817A>C",
"hgvs_p": "p.Asn1273His",
"transcript": "ENST00000405093.9",
"protein_id": "ENSP00000386041.3",
"transcript_support_level": 5,
"aa_start": 1273,
"aa_end": null,
"aa_length": 1939,
"cds_start": 3817,
"cds_end": null,
"cds_length": 5820,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002471.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405093.9"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH6",
"gene_hgnc_id": 7576,
"hgvs_c": "c.3850A>C",
"hgvs_p": "p.Asn1284His",
"transcript": "ENST00000968262.1",
"protein_id": "ENSP00000638321.1",
"transcript_support_level": null,
"aa_start": 1284,
"aa_end": null,
"aa_length": 1950,
"cds_start": 3850,
"cds_end": null,
"cds_length": 5853,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968262.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH6",
"gene_hgnc_id": 7576,
"hgvs_c": "c.3817A>C",
"hgvs_p": "p.Asn1273His",
"transcript": "ENST00000968257.1",
"protein_id": "ENSP00000638316.1",
"transcript_support_level": null,
"aa_start": 1273,
"aa_end": null,
"aa_length": 1947,
"cds_start": 3817,
"cds_end": null,
"cds_length": 5844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968257.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH6",
"gene_hgnc_id": 7576,
"hgvs_c": "c.3817A>C",
"hgvs_p": "p.Asn1273His",
"transcript": "ENST00000968271.1",
"protein_id": "ENSP00000638330.1",
"transcript_support_level": null,
"aa_start": 1273,
"aa_end": null,
"aa_length": 1946,
"cds_start": 3817,
"cds_end": null,
"cds_length": 5841,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968271.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH6",
"gene_hgnc_id": 7576,
"hgvs_c": "c.3835A>C",
"hgvs_p": "p.Asn1279His",
"transcript": "ENST00000968258.1",
"protein_id": "ENSP00000638317.1",
"transcript_support_level": null,
"aa_start": 1279,
"aa_end": null,
"aa_length": 1945,
"cds_start": 3835,
"cds_end": null,
"cds_length": 5838,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968258.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH6",
"gene_hgnc_id": 7576,
"hgvs_c": "c.3835A>C",
"hgvs_p": "p.Asn1279His",
"transcript": "ENST00000968274.1",
"protein_id": "ENSP00000638333.1",
"transcript_support_level": null,
"aa_start": 1279,
"aa_end": null,
"aa_length": 1945,
"cds_start": 3835,
"cds_end": null,
"cds_length": 5838,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968274.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH6",
"gene_hgnc_id": 7576,
"hgvs_c": "c.3835A>C",
"hgvs_p": "p.Asn1279His",
"transcript": "ENST00000968289.1",
"protein_id": "ENSP00000638348.1",
"transcript_support_level": null,
"aa_start": 1279,
"aa_end": null,
"aa_length": 1945,
"cds_start": 3835,
"cds_end": null,
"cds_length": 5838,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968289.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH6",
"gene_hgnc_id": 7576,
"hgvs_c": "c.3817A>C",
"hgvs_p": "p.Asn1273His",
"transcript": "ENST00000968250.1",
"protein_id": "ENSP00000638309.1",
"transcript_support_level": null,
"aa_start": 1273,
"aa_end": null,
"aa_length": 1939,
"cds_start": 3817,
"cds_end": null,
"cds_length": 5820,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968250.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH6",
"gene_hgnc_id": 7576,
"hgvs_c": "c.3817A>C",
"hgvs_p": "p.Asn1273His",
"transcript": "ENST00000968253.1",
"protein_id": "ENSP00000638312.1",
"transcript_support_level": null,
"aa_start": 1273,
"aa_end": null,
"aa_length": 1939,
"cds_start": 3817,
"cds_end": null,
"cds_length": 5820,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968253.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH6",
"gene_hgnc_id": 7576,
"hgvs_c": "c.3817A>C",
"hgvs_p": "p.Asn1273His",
"transcript": "ENST00000968255.1",
"protein_id": "ENSP00000638314.1",
"transcript_support_level": null,
"aa_start": 1273,
"aa_end": null,
"aa_length": 1939,
"cds_start": 3817,
"cds_end": null,
"cds_length": 5820,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968255.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH6",
"gene_hgnc_id": 7576,
"hgvs_c": "c.3817A>C",
"hgvs_p": "p.Asn1273His",
"transcript": "ENST00000968256.1",
"protein_id": "ENSP00000638315.1",
"transcript_support_level": null,
"aa_start": 1273,
"aa_end": null,
"aa_length": 1939,
"cds_start": 3817,
"cds_end": null,
"cds_length": 5820,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968256.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH6",
"gene_hgnc_id": 7576,
"hgvs_c": "c.3817A>C",
"hgvs_p": "p.Asn1273His",
"transcript": "ENST00000968259.1",
"protein_id": "ENSP00000638318.1",
"transcript_support_level": null,
"aa_start": 1273,
"aa_end": null,
"aa_length": 1939,
"cds_start": 3817,
"cds_end": null,
"cds_length": 5820,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968259.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH6",
"gene_hgnc_id": 7576,
"hgvs_c": "c.3817A>C",
"hgvs_p": "p.Asn1273His",
"transcript": "ENST00000968261.1",
"protein_id": "ENSP00000638320.1",
"transcript_support_level": null,
"aa_start": 1273,
"aa_end": null,
"aa_length": 1939,
"cds_start": 3817,
"cds_end": null,
"cds_length": 5820,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968261.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH6",
"gene_hgnc_id": 7576,
"hgvs_c": "c.3817A>C",
"hgvs_p": "p.Asn1273His",
"transcript": "ENST00000968281.1",
"protein_id": "ENSP00000638340.1",
"transcript_support_level": null,
"aa_start": 1273,
"aa_end": null,
"aa_length": 1939,
"cds_start": 3817,
"cds_end": null,
"cds_length": 5820,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968281.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH6",
"gene_hgnc_id": 7576,
"hgvs_c": "c.3817A>C",
"hgvs_p": "p.Asn1273His",
"transcript": "ENST00000968282.1",
"protein_id": "ENSP00000638341.1",
"transcript_support_level": null,
"aa_start": 1273,
"aa_end": null,
"aa_length": 1939,
"cds_start": 3817,
"cds_end": null,
"cds_length": 5820,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968282.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH6",
"gene_hgnc_id": 7576,
"hgvs_c": "c.3817A>C",
"hgvs_p": "p.Asn1273His",
"transcript": "ENST00000968283.1",
"protein_id": "ENSP00000638342.1",
"transcript_support_level": null,
"aa_start": 1273,
"aa_end": null,
"aa_length": 1939,
"cds_start": 3817,
"cds_end": null,
"cds_length": 5820,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968283.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH6",
"gene_hgnc_id": 7576,
"hgvs_c": "c.3817A>C",
"hgvs_p": "p.Asn1273His",
"transcript": "ENST00000968287.1",
"protein_id": "ENSP00000638346.1",
"transcript_support_level": null,
"aa_start": 1273,
"aa_end": null,
"aa_length": 1939,
"cds_start": 3817,
"cds_end": null,
"cds_length": 5820,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968287.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH6",
"gene_hgnc_id": 7576,
"hgvs_c": "c.3817A>C",
"hgvs_p": "p.Asn1273His",
"transcript": "ENST00000968288.1",
"protein_id": "ENSP00000638347.1",
"transcript_support_level": null,
"aa_start": 1273,
"aa_end": null,
"aa_length": 1939,
"cds_start": 3817,
"cds_end": null,
"cds_length": 5820,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968288.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH6",
"gene_hgnc_id": 7576,
"hgvs_c": "c.3817A>C",
"hgvs_p": "p.Asn1273His",
"transcript": "ENST00000968290.1",
"protein_id": "ENSP00000638349.1",
"transcript_support_level": null,
"aa_start": 1273,
"aa_end": null,
"aa_length": 1939,
"cds_start": 3817,
"cds_end": null,
"cds_length": 5820,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968290.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH6",
"gene_hgnc_id": 7576,
"hgvs_c": "c.3817A>C",
"hgvs_p": "p.Asn1273His",
"transcript": "ENST00000968252.1",
"protein_id": "ENSP00000638311.1",
"transcript_support_level": null,
"aa_start": 1273,
"aa_end": null,
"aa_length": 1938,
"cds_start": 3817,
"cds_end": null,
"cds_length": 5817,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968252.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH6",
"gene_hgnc_id": 7576,
"hgvs_c": "c.3817A>C",
"hgvs_p": "p.Asn1273His",
"transcript": "ENST00000968254.1",
"protein_id": "ENSP00000638313.1",
"transcript_support_level": null,
"aa_start": 1273,
"aa_end": null,
"aa_length": 1938,
"cds_start": 3817,
"cds_end": null,
"cds_length": 5817,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968254.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH6",
"gene_hgnc_id": 7576,
"hgvs_c": "c.3811A>C",
"hgvs_p": "p.Asn1271His",
"transcript": "ENST00000968269.1",
"protein_id": "ENSP00000638328.1",
"transcript_support_level": null,
"aa_start": 1271,
"aa_end": null,
"aa_length": 1937,
"cds_start": 3811,
"cds_end": null,
"cds_length": 5814,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968269.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH6",
"gene_hgnc_id": 7576,
"hgvs_c": "c.3817A>C",
"hgvs_p": "p.Asn1273His",
"transcript": "ENST00000968273.1",
"protein_id": "ENSP00000638332.1",
"transcript_support_level": null,
"aa_start": 1273,
"aa_end": null,
"aa_length": 1937,
"cds_start": 3817,
"cds_end": null,
"cds_length": 5814,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968273.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH6",
"gene_hgnc_id": 7576,
"hgvs_c": "c.3808A>C",
"hgvs_p": "p.Asn1270His",
"transcript": "ENST00000968268.1",
"protein_id": "ENSP00000638327.1",
"transcript_support_level": null,
"aa_start": 1270,
"aa_end": null,
"aa_length": 1936,
"cds_start": 3808,
"cds_end": null,
"cds_length": 5811,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968268.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH6",
"gene_hgnc_id": 7576,
"hgvs_c": "c.3805A>C",
"hgvs_p": "p.Asn1269His",
"transcript": "ENST00000968272.1",
"protein_id": "ENSP00000638331.1",
"transcript_support_level": null,
"aa_start": 1269,
"aa_end": null,
"aa_length": 1935,
"cds_start": 3805,
"cds_end": null,
"cds_length": 5808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968272.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH6",
"gene_hgnc_id": 7576,
"hgvs_c": "c.3805A>C",
"hgvs_p": "p.Asn1269His",
"transcript": "ENST00000968278.1",
"protein_id": "ENSP00000638337.1",
"transcript_support_level": null,
"aa_start": 1269,
"aa_end": null,
"aa_length": 1935,
"cds_start": 3805,
"cds_end": null,
"cds_length": 5808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968278.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH6",
"gene_hgnc_id": 7576,
"hgvs_c": "c.3802A>C",
"hgvs_p": "p.Asn1268His",
"transcript": "ENST00000968285.1",
"protein_id": "ENSP00000638344.1",
"transcript_support_level": null,
"aa_start": 1268,
"aa_end": null,
"aa_length": 1934,
"cds_start": 3802,
"cds_end": null,
"cds_length": 5805,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968285.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH6",
"gene_hgnc_id": 7576,
"hgvs_c": "c.3817A>C",
"hgvs_p": "p.Asn1273His",
"transcript": "ENST00000968251.1",
"protein_id": "ENSP00000638310.1",
"transcript_support_level": null,
"aa_start": 1273,
"aa_end": null,
"aa_length": 1929,
"cds_start": 3817,
"cds_end": null,
"cds_length": 5790,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968251.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH6",
"gene_hgnc_id": 7576,
"hgvs_c": "c.3817A>C",
"hgvs_p": "p.Asn1273His",
"transcript": "ENST00000968267.1",
"protein_id": "ENSP00000638326.1",
"transcript_support_level": null,
"aa_start": 1273,
"aa_end": null,
"aa_length": 1929,
"cds_start": 3817,
"cds_end": null,
"cds_length": 5790,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968267.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH6",
"gene_hgnc_id": 7576,
"hgvs_c": "c.3817A>C",
"hgvs_p": "p.Asn1273His",
"transcript": "ENST00000968284.1",
"protein_id": "ENSP00000638343.1",
"transcript_support_level": null,
"aa_start": 1273,
"aa_end": null,
"aa_length": 1929,
"cds_start": 3817,
"cds_end": null,
"cds_length": 5790,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968284.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH6",
"gene_hgnc_id": 7576,
"hgvs_c": "c.3775A>C",
"hgvs_p": "p.Asn1259His",
"transcript": "ENST00000968260.1",
"protein_id": "ENSP00000638319.1",
"transcript_support_level": null,
"aa_start": 1259,
"aa_end": null,
"aa_length": 1925,
"cds_start": 3775,
"cds_end": null,
"cds_length": 5778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968260.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH6",
"gene_hgnc_id": 7576,
"hgvs_c": "c.3775A>C",
"hgvs_p": "p.Asn1259His",
"transcript": "ENST00000968280.1",
"protein_id": "ENSP00000638339.1",
"transcript_support_level": null,
"aa_start": 1259,
"aa_end": null,
"aa_length": 1925,
"cds_start": 3775,
"cds_end": null,
"cds_length": 5778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968280.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH6",
"gene_hgnc_id": 7576,
"hgvs_c": "c.3766A>C",
"hgvs_p": "p.Asn1256His",
"transcript": "ENST00000968276.1",
"protein_id": "ENSP00000638335.1",
"transcript_support_level": null,
"aa_start": 1256,
"aa_end": null,
"aa_length": 1922,
"cds_start": 3766,
"cds_end": null,
"cds_length": 5769,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968276.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH6",
"gene_hgnc_id": 7576,
"hgvs_c": "c.3817A>C",
"hgvs_p": "p.Asn1273His",
"transcript": "ENST00000968263.1",
"protein_id": "ENSP00000638322.1",
"transcript_support_level": null,
"aa_start": 1273,
"aa_end": null,
"aa_length": 1909,
"cds_start": 3817,
"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": "ENST00000968263.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH6",
"gene_hgnc_id": 7576,
"hgvs_c": "c.3724A>C",
"hgvs_p": "p.Asn1242His",
"transcript": "ENST00000968286.1",
"protein_id": "ENSP00000638345.1",
"transcript_support_level": null,
"aa_start": 1242,
"aa_end": null,
"aa_length": 1908,
"cds_start": 3724,
"cds_end": null,
"cds_length": 5727,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968286.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH6",
"gene_hgnc_id": 7576,
"hgvs_c": "c.3718A>C",
"hgvs_p": "p.Asn1240His",
"transcript": "ENST00000968275.1",
"protein_id": "ENSP00000638334.1",
"transcript_support_level": null,
"aa_start": 1240,
"aa_end": null,
"aa_length": 1906,
"cds_start": 3718,
"cds_end": null,
"cds_length": 5721,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968275.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH6",
"gene_hgnc_id": 7576,
"hgvs_c": "c.3817A>C",
"hgvs_p": "p.Asn1273His",
"transcript": "ENST00000968264.1",
"protein_id": "ENSP00000638323.1",
"transcript_support_level": null,
"aa_start": 1273,
"aa_end": null,
"aa_length": 1900,
"cds_start": 3817,
"cds_end": null,
"cds_length": 5703,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968264.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH6",
"gene_hgnc_id": 7576,
"hgvs_c": "c.3646A>C",
"hgvs_p": "p.Asn1216His",
"transcript": "ENST00000968270.1",
"protein_id": "ENSP00000638329.1",
"transcript_support_level": null,
"aa_start": 1216,
"aa_end": null,
"aa_length": 1882,
"cds_start": 3646,
"cds_end": null,
"cds_length": 5649,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968270.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH6",
"gene_hgnc_id": 7576,
"hgvs_c": "c.3817A>C",
"hgvs_p": "p.Asn1273His",
"transcript": "ENST00000968265.1",
"protein_id": "ENSP00000638324.1",
"transcript_support_level": null,
"aa_start": 1273,
"aa_end": null,
"aa_length": 1847,
"cds_start": 3817,
"cds_end": null,
"cds_length": 5544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968265.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH6",
"gene_hgnc_id": 7576,
"hgvs_c": "c.3817A>C",
"hgvs_p": "p.Asn1273His",
"transcript": "ENST00000968277.1",
"protein_id": "ENSP00000638336.1",
"transcript_support_level": null,
"aa_start": 1273,
"aa_end": null,
"aa_length": 1847,
"cds_start": 3817,
"cds_end": null,
"cds_length": 5544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968277.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH6",
"gene_hgnc_id": 7576,
"hgvs_c": "c.3436A>C",
"hgvs_p": "p.Asn1146His",
"transcript": "ENST00000968279.1",
"protein_id": "ENSP00000638338.1",
"transcript_support_level": null,
"aa_start": 1146,
"aa_end": null,
"aa_length": 1812,
"cds_start": 3436,
"cds_end": null,
"cds_length": 5439,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968279.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "MYH6",
"gene_hgnc_id": 7576,
"hgvs_c": "c.1582-6315A>C",
"hgvs_p": null,
"transcript": "ENST00000968266.1",
"protein_id": "ENSP00000638325.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 611,
"cds_start": null,
"cds_end": null,
"cds_length": 1836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968266.1"
}
],
"gene_symbol": "MYH6",
"gene_hgnc_id": 7576,
"dbsnp": "rs200503588",
"frequency_reference_population": 0.0000013680882,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136809,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.40501993894577026,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.326,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1053,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.068,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002471.4",
"gene_symbol": "MYH6",
"hgnc_id": 7576,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3817A>C",
"hgvs_p": "p.Asn1273His"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}