← 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: 14-23389595-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=23389595&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 23389595,
"ref": "T",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_002471.4",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.3857A>T",
"hgvs_p": "p.Asn1286Ile",
"transcript": "NM_002471.4",
"protein_id": "NP_002462.2",
"transcript_support_level": null,
"aa_start": 1286,
"aa_end": null,
"aa_length": 1939,
"cds_start": 3857,
"cds_end": null,
"cds_length": 5820,
"cdna_start": 3924,
"cdna_end": null,
"cdna_length": 5940,
"mane_select": "ENST00000405093.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002471.4"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.3857A>T",
"hgvs_p": "p.Asn1286Ile",
"transcript": "ENST00000405093.9",
"protein_id": "ENSP00000386041.3",
"transcript_support_level": 5,
"aa_start": 1286,
"aa_end": null,
"aa_length": 1939,
"cds_start": 3857,
"cds_end": null,
"cds_length": 5820,
"cdna_start": 3924,
"cdna_end": null,
"cdna_length": 5940,
"mane_select": "NM_002471.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405093.9"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.3890A>T",
"hgvs_p": "p.Asn1297Ile",
"transcript": "ENST00000968262.1",
"protein_id": "ENSP00000638321.1",
"transcript_support_level": null,
"aa_start": 1297,
"aa_end": null,
"aa_length": 1950,
"cds_start": 3890,
"cds_end": null,
"cds_length": 5853,
"cdna_start": 3961,
"cdna_end": null,
"cdna_length": 6363,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968262.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.3857A>T",
"hgvs_p": "p.Asn1286Ile",
"transcript": "ENST00000968257.1",
"protein_id": "ENSP00000638316.1",
"transcript_support_level": null,
"aa_start": 1286,
"aa_end": null,
"aa_length": 1947,
"cds_start": 3857,
"cds_end": null,
"cds_length": 5844,
"cdna_start": 3956,
"cdna_end": null,
"cdna_length": 6407,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968257.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.3857A>T",
"hgvs_p": "p.Asn1286Ile",
"transcript": "ENST00000968271.1",
"protein_id": "ENSP00000638330.1",
"transcript_support_level": null,
"aa_start": 1286,
"aa_end": null,
"aa_length": 1946,
"cds_start": 3857,
"cds_end": null,
"cds_length": 5841,
"cdna_start": 3929,
"cdna_end": null,
"cdna_length": 5970,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968271.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.3875A>T",
"hgvs_p": "p.Asn1292Ile",
"transcript": "ENST00000968258.1",
"protein_id": "ENSP00000638317.1",
"transcript_support_level": null,
"aa_start": 1292,
"aa_end": null,
"aa_length": 1945,
"cds_start": 3875,
"cds_end": null,
"cds_length": 5838,
"cdna_start": 3977,
"cdna_end": null,
"cdna_length": 6380,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968258.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.3875A>T",
"hgvs_p": "p.Asn1292Ile",
"transcript": "ENST00000968274.1",
"protein_id": "ENSP00000638333.1",
"transcript_support_level": null,
"aa_start": 1292,
"aa_end": null,
"aa_length": 1945,
"cds_start": 3875,
"cds_end": null,
"cds_length": 5838,
"cdna_start": 4034,
"cdna_end": null,
"cdna_length": 6054,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968274.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.3875A>T",
"hgvs_p": "p.Asn1292Ile",
"transcript": "ENST00000968289.1",
"protein_id": "ENSP00000638348.1",
"transcript_support_level": null,
"aa_start": 1292,
"aa_end": null,
"aa_length": 1945,
"cds_start": 3875,
"cds_end": null,
"cds_length": 5838,
"cdna_start": 4088,
"cdna_end": null,
"cdna_length": 6107,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968289.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.3857A>T",
"hgvs_p": "p.Asn1286Ile",
"transcript": "ENST00000968250.1",
"protein_id": "ENSP00000638309.1",
"transcript_support_level": null,
"aa_start": 1286,
"aa_end": null,
"aa_length": 1939,
"cds_start": 3857,
"cds_end": null,
"cds_length": 5820,
"cdna_start": 4117,
"cdna_end": null,
"cdna_length": 6520,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968250.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.3857A>T",
"hgvs_p": "p.Asn1286Ile",
"transcript": "ENST00000968253.1",
"protein_id": "ENSP00000638312.1",
"transcript_support_level": null,
"aa_start": 1286,
"aa_end": null,
"aa_length": 1939,
"cds_start": 3857,
"cds_end": null,
"cds_length": 5820,
"cdna_start": 3985,
"cdna_end": null,
"cdna_length": 6410,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968253.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.3857A>T",
"hgvs_p": "p.Asn1286Ile",
"transcript": "ENST00000968255.1",
"protein_id": "ENSP00000638314.1",
"transcript_support_level": null,
"aa_start": 1286,
"aa_end": null,
"aa_length": 1939,
"cds_start": 3857,
"cds_end": null,
"cds_length": 5820,
"cdna_start": 4009,
"cdna_end": null,
"cdna_length": 6410,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968255.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.3857A>T",
"hgvs_p": "p.Asn1286Ile",
"transcript": "ENST00000968256.1",
"protein_id": "ENSP00000638315.1",
"transcript_support_level": null,
"aa_start": 1286,
"aa_end": null,
"aa_length": 1939,
"cds_start": 3857,
"cds_end": null,
"cds_length": 5820,
"cdna_start": 4038,
"cdna_end": null,
"cdna_length": 6050,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968256.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.3857A>T",
"hgvs_p": "p.Asn1286Ile",
"transcript": "ENST00000968259.1",
"protein_id": "ENSP00000638318.1",
"transcript_support_level": null,
"aa_start": 1286,
"aa_end": null,
"aa_length": 1939,
"cds_start": 3857,
"cds_end": null,
"cds_length": 5820,
"cdna_start": 4022,
"cdna_end": null,
"cdna_length": 6448,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968259.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.3857A>T",
"hgvs_p": "p.Asn1286Ile",
"transcript": "ENST00000968261.1",
"protein_id": "ENSP00000638320.1",
"transcript_support_level": null,
"aa_start": 1286,
"aa_end": null,
"aa_length": 1939,
"cds_start": 3857,
"cds_end": null,
"cds_length": 5820,
"cdna_start": 4569,
"cdna_end": null,
"cdna_length": 6975,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968261.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.3857A>T",
"hgvs_p": "p.Asn1286Ile",
"transcript": "ENST00000968281.1",
"protein_id": "ENSP00000638340.1",
"transcript_support_level": null,
"aa_start": 1286,
"aa_end": null,
"aa_length": 1939,
"cds_start": 3857,
"cds_end": null,
"cds_length": 5820,
"cdna_start": 3947,
"cdna_end": null,
"cdna_length": 5964,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968281.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.3857A>T",
"hgvs_p": "p.Asn1286Ile",
"transcript": "ENST00000968282.1",
"protein_id": "ENSP00000638341.1",
"transcript_support_level": null,
"aa_start": 1286,
"aa_end": null,
"aa_length": 1939,
"cds_start": 3857,
"cds_end": null,
"cds_length": 5820,
"cdna_start": 3979,
"cdna_end": null,
"cdna_length": 5998,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968282.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.3857A>T",
"hgvs_p": "p.Asn1286Ile",
"transcript": "ENST00000968283.1",
"protein_id": "ENSP00000638342.1",
"transcript_support_level": null,
"aa_start": 1286,
"aa_end": null,
"aa_length": 1939,
"cds_start": 3857,
"cds_end": null,
"cds_length": 5820,
"cdna_start": 3953,
"cdna_end": null,
"cdna_length": 5972,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968283.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.3857A>T",
"hgvs_p": "p.Asn1286Ile",
"transcript": "ENST00000968287.1",
"protein_id": "ENSP00000638346.1",
"transcript_support_level": null,
"aa_start": 1286,
"aa_end": null,
"aa_length": 1939,
"cds_start": 3857,
"cds_end": null,
"cds_length": 5820,
"cdna_start": 3989,
"cdna_end": null,
"cdna_length": 6002,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968287.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.3857A>T",
"hgvs_p": "p.Asn1286Ile",
"transcript": "ENST00000968288.1",
"protein_id": "ENSP00000638347.1",
"transcript_support_level": null,
"aa_start": 1286,
"aa_end": null,
"aa_length": 1939,
"cds_start": 3857,
"cds_end": null,
"cds_length": 5820,
"cdna_start": 4067,
"cdna_end": null,
"cdna_length": 6469,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968288.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.3857A>T",
"hgvs_p": "p.Asn1286Ile",
"transcript": "ENST00000968290.1",
"protein_id": "ENSP00000638349.1",
"transcript_support_level": null,
"aa_start": 1286,
"aa_end": null,
"aa_length": 1939,
"cds_start": 3857,
"cds_end": null,
"cds_length": 5820,
"cdna_start": 4331,
"cdna_end": null,
"cdna_length": 6352,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968290.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.3857A>T",
"hgvs_p": "p.Asn1286Ile",
"transcript": "ENST00000968252.1",
"protein_id": "ENSP00000638311.1",
"transcript_support_level": null,
"aa_start": 1286,
"aa_end": null,
"aa_length": 1938,
"cds_start": 3857,
"cds_end": null,
"cds_length": 5817,
"cdna_start": 4018,
"cdna_end": null,
"cdna_length": 6440,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968252.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.3857A>T",
"hgvs_p": "p.Asn1286Ile",
"transcript": "ENST00000968254.1",
"protein_id": "ENSP00000638313.1",
"transcript_support_level": null,
"aa_start": 1286,
"aa_end": null,
"aa_length": 1938,
"cds_start": 3857,
"cds_end": null,
"cds_length": 5817,
"cdna_start": 4001,
"cdna_end": null,
"cdna_length": 6423,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968254.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.3851A>T",
"hgvs_p": "p.Asn1284Ile",
"transcript": "ENST00000968269.1",
"protein_id": "ENSP00000638328.1",
"transcript_support_level": null,
"aa_start": 1284,
"aa_end": null,
"aa_length": 1937,
"cds_start": 3851,
"cds_end": null,
"cds_length": 5814,
"cdna_start": 3951,
"cdna_end": null,
"cdna_length": 5972,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968269.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.3857A>T",
"hgvs_p": "p.Asn1286Ile",
"transcript": "ENST00000968273.1",
"protein_id": "ENSP00000638332.1",
"transcript_support_level": null,
"aa_start": 1286,
"aa_end": null,
"aa_length": 1937,
"cds_start": 3857,
"cds_end": null,
"cds_length": 5814,
"cdna_start": 3928,
"cdna_end": null,
"cdna_length": 5943,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968273.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.3848A>T",
"hgvs_p": "p.Asn1283Ile",
"transcript": "ENST00000968268.1",
"protein_id": "ENSP00000638327.1",
"transcript_support_level": null,
"aa_start": 1283,
"aa_end": null,
"aa_length": 1936,
"cds_start": 3848,
"cds_end": null,
"cds_length": 5811,
"cdna_start": 3947,
"cdna_end": null,
"cdna_length": 5972,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968268.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.3845A>T",
"hgvs_p": "p.Asn1282Ile",
"transcript": "ENST00000968272.1",
"protein_id": "ENSP00000638331.1",
"transcript_support_level": null,
"aa_start": 1282,
"aa_end": null,
"aa_length": 1935,
"cds_start": 3845,
"cds_end": null,
"cds_length": 5808,
"cdna_start": 3916,
"cdna_end": null,
"cdna_length": 5937,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968272.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.3845A>T",
"hgvs_p": "p.Asn1282Ile",
"transcript": "ENST00000968278.1",
"protein_id": "ENSP00000638337.1",
"transcript_support_level": null,
"aa_start": 1282,
"aa_end": null,
"aa_length": 1935,
"cds_start": 3845,
"cds_end": null,
"cds_length": 5808,
"cdna_start": 3912,
"cdna_end": null,
"cdna_length": 5933,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968278.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.3842A>T",
"hgvs_p": "p.Asn1281Ile",
"transcript": "ENST00000968285.1",
"protein_id": "ENSP00000638344.1",
"transcript_support_level": null,
"aa_start": 1281,
"aa_end": null,
"aa_length": 1934,
"cds_start": 3842,
"cds_end": null,
"cds_length": 5805,
"cdna_start": 3907,
"cdna_end": null,
"cdna_length": 5924,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968285.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.3857A>T",
"hgvs_p": "p.Asn1286Ile",
"transcript": "ENST00000968251.1",
"protein_id": "ENSP00000638310.1",
"transcript_support_level": null,
"aa_start": 1286,
"aa_end": null,
"aa_length": 1929,
"cds_start": 3857,
"cds_end": null,
"cds_length": 5790,
"cdna_start": 4113,
"cdna_end": null,
"cdna_length": 6508,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968251.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.3857A>T",
"hgvs_p": "p.Asn1286Ile",
"transcript": "ENST00000968267.1",
"protein_id": "ENSP00000638326.1",
"transcript_support_level": null,
"aa_start": 1286,
"aa_end": null,
"aa_length": 1929,
"cds_start": 3857,
"cds_end": null,
"cds_length": 5790,
"cdna_start": 3957,
"cdna_end": null,
"cdna_length": 5941,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968267.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.3857A>T",
"hgvs_p": "p.Asn1286Ile",
"transcript": "ENST00000968284.1",
"protein_id": "ENSP00000638343.1",
"transcript_support_level": null,
"aa_start": 1286,
"aa_end": null,
"aa_length": 1929,
"cds_start": 3857,
"cds_end": null,
"cds_length": 5790,
"cdna_start": 4017,
"cdna_end": null,
"cdna_length": 5998,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968284.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.3815A>T",
"hgvs_p": "p.Asn1272Ile",
"transcript": "ENST00000968260.1",
"protein_id": "ENSP00000638319.1",
"transcript_support_level": null,
"aa_start": 1272,
"aa_end": null,
"aa_length": 1925,
"cds_start": 3815,
"cds_end": null,
"cds_length": 5778,
"cdna_start": 3914,
"cdna_end": null,
"cdna_length": 6317,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968260.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.3815A>T",
"hgvs_p": "p.Asn1272Ile",
"transcript": "ENST00000968280.1",
"protein_id": "ENSP00000638339.1",
"transcript_support_level": null,
"aa_start": 1272,
"aa_end": null,
"aa_length": 1925,
"cds_start": 3815,
"cds_end": null,
"cds_length": 5778,
"cdna_start": 3969,
"cdna_end": null,
"cdna_length": 5990,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968280.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.3806A>T",
"hgvs_p": "p.Asn1269Ile",
"transcript": "ENST00000968276.1",
"protein_id": "ENSP00000638335.1",
"transcript_support_level": null,
"aa_start": 1269,
"aa_end": null,
"aa_length": 1922,
"cds_start": 3806,
"cds_end": null,
"cds_length": 5769,
"cdna_start": 3877,
"cdna_end": null,
"cdna_length": 5896,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968276.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.3857A>T",
"hgvs_p": "p.Asn1286Ile",
"transcript": "ENST00000968263.1",
"protein_id": "ENSP00000638322.1",
"transcript_support_level": null,
"aa_start": 1286,
"aa_end": null,
"aa_length": 1909,
"cds_start": 3857,
"cds_end": null,
"cds_length": 5730,
"cdna_start": 3922,
"cdna_end": null,
"cdna_length": 6233,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968263.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.3764A>T",
"hgvs_p": "p.Asn1255Ile",
"transcript": "ENST00000968286.1",
"protein_id": "ENSP00000638345.1",
"transcript_support_level": null,
"aa_start": 1255,
"aa_end": null,
"aa_length": 1908,
"cds_start": 3764,
"cds_end": null,
"cds_length": 5727,
"cdna_start": 3831,
"cdna_end": null,
"cdna_length": 5844,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968286.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.3758A>T",
"hgvs_p": "p.Asn1253Ile",
"transcript": "ENST00000968275.1",
"protein_id": "ENSP00000638334.1",
"transcript_support_level": null,
"aa_start": 1253,
"aa_end": null,
"aa_length": 1906,
"cds_start": 3758,
"cds_end": null,
"cds_length": 5721,
"cdna_start": 3828,
"cdna_end": null,
"cdna_length": 5849,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968275.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.3857A>T",
"hgvs_p": "p.Asn1286Ile",
"transcript": "ENST00000968264.1",
"protein_id": "ENSP00000638323.1",
"transcript_support_level": null,
"aa_start": 1286,
"aa_end": null,
"aa_length": 1900,
"cds_start": 3857,
"cds_end": null,
"cds_length": 5703,
"cdna_start": 3927,
"cdna_end": null,
"cdna_length": 6199,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968264.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.3686A>T",
"hgvs_p": "p.Asn1229Ile",
"transcript": "ENST00000968270.1",
"protein_id": "ENSP00000638329.1",
"transcript_support_level": null,
"aa_start": 1229,
"aa_end": null,
"aa_length": 1882,
"cds_start": 3686,
"cds_end": null,
"cds_length": 5649,
"cdna_start": 3786,
"cdna_end": null,
"cdna_length": 5805,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968270.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.3857A>T",
"hgvs_p": "p.Asn1286Ile",
"transcript": "ENST00000968265.1",
"protein_id": "ENSP00000638324.1",
"transcript_support_level": null,
"aa_start": 1286,
"aa_end": null,
"aa_length": 1847,
"cds_start": 3857,
"cds_end": null,
"cds_length": 5544,
"cdna_start": 4116,
"cdna_end": null,
"cdna_length": 5863,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968265.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.3857A>T",
"hgvs_p": "p.Asn1286Ile",
"transcript": "ENST00000968277.1",
"protein_id": "ENSP00000638336.1",
"transcript_support_level": null,
"aa_start": 1286,
"aa_end": null,
"aa_length": 1847,
"cds_start": 3857,
"cds_end": null,
"cds_length": 5544,
"cdna_start": 4015,
"cdna_end": null,
"cdna_length": 5758,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968277.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_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.3476A>T",
"hgvs_p": "p.Asn1159Ile",
"transcript": "ENST00000968279.1",
"protein_id": "ENSP00000638338.1",
"transcript_support_level": null,
"aa_start": 1159,
"aa_end": null,
"aa_length": 1812,
"cds_start": 3476,
"cds_end": null,
"cds_length": 5439,
"cdna_start": 3545,
"cdna_end": null,
"cdna_length": 5564,
"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.1582-6275A>T",
"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": 2049,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968266.1"
}
],
"gene_symbol": "MYH6",
"gene_hgnc_id": 7576,
"dbsnp": "rs772586397",
"frequency_reference_population": 6.840441e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84044e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8205313086509705,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.8059999942779541,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.657,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.3877,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 1.315,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.992037810765824,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002471.4",
"gene_symbol": "MYH6",
"hgnc_id": 7576,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3857A>T",
"hgvs_p": "p.Asn1286Ile"
}
],
"clinvar_disease": "Cardiovascular phenotype,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not specified|Cardiovascular phenotype",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}