← 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: 14-23423919-TGC-ACT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=23423919&ref=TGC&alt=ACT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MYH7",
"hgnc_id": 7577,
"hgvs_c": "c.2908_2910delGCAinsAGT",
"hgvs_p": "p.Ala970Ser",
"inheritance_mode": "AD,AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_000257.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP2,PP3",
"acmg_score": 2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "ACT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "14",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1935,
"aa_ref": "A",
"aa_start": 970,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6027,
"cdna_start": 3015,
"cds_end": null,
"cds_length": 5808,
"cds_start": 2908,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_000257.4",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.2908_2910delGCAinsAGT",
"hgvs_p": "p.Ala970Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000355349.4",
"protein_coding": true,
"protein_id": "NP_000248.2",
"strand": false,
"transcript": "NM_000257.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1935,
"aa_ref": "A",
"aa_start": 970,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6027,
"cdna_start": 3015,
"cds_end": null,
"cds_length": 5808,
"cds_start": 2908,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000355349.4",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.2908_2910delGCAinsAGT",
"hgvs_p": "p.Ala970Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000257.4",
"protein_coding": true,
"protein_id": "ENSP00000347507.3",
"strand": false,
"transcript": "ENST00000355349.4",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1950,
"aa_ref": "A",
"aa_start": 970,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6074,
"cdna_start": 3015,
"cds_end": null,
"cds_length": 5853,
"cds_start": 2908,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858540.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.2908_2910delGCAinsAGT",
"hgvs_p": "p.Ala970Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528599.1",
"strand": false,
"transcript": "ENST00000858540.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1950,
"aa_ref": "A",
"aa_start": 970,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6166,
"cdna_start": 3112,
"cds_end": null,
"cds_length": 5853,
"cds_start": 2908,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000965955.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.2908_2910delGCAinsAGT",
"hgvs_p": "p.Ala970Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636014.1",
"strand": false,
"transcript": "ENST00000965955.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1944,
"aa_ref": "A",
"aa_start": 970,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6103,
"cdna_start": 3015,
"cds_end": null,
"cds_length": 5835,
"cds_start": 2908,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000713768.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.2908_2910delGCAinsAGT",
"hgvs_p": "p.Ala970Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519070.1",
"strand": false,
"transcript": "ENST00000713768.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1944,
"aa_ref": "A",
"aa_start": 979,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6052,
"cdna_start": 3042,
"cds_end": null,
"cds_length": 5835,
"cds_start": 2935,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858547.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.2935_2937delGCAinsAGT",
"hgvs_p": "p.Ala979Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528606.1",
"strand": false,
"transcript": "ENST00000858547.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1943,
"aa_ref": "A",
"aa_start": 978,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6054,
"cdna_start": 3041,
"cds_end": null,
"cds_length": 5832,
"cds_start": 2932,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000965946.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.2932_2934delGCAinsAGT",
"hgvs_p": "p.Ala978Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636005.1",
"strand": false,
"transcript": "ENST00000965946.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1940,
"aa_ref": "A",
"aa_start": 975,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6041,
"cdna_start": 3031,
"cds_end": null,
"cds_length": 5823,
"cds_start": 2923,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858544.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.2923_2925delGCAinsAGT",
"hgvs_p": "p.Ala975Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528603.1",
"strand": false,
"transcript": "ENST00000858544.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1935,
"aa_ref": "A",
"aa_start": 970,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5971,
"cdna_start": 2959,
"cds_end": null,
"cds_length": 5808,
"cds_start": 2908,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001407004.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.2908_2910delGCAinsAGT",
"hgvs_p": "p.Ala970Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393933.1",
"strand": false,
"transcript": "NM_001407004.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1935,
"aa_ref": "A",
"aa_start": 970,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5971,
"cdna_start": 2959,
"cds_end": null,
"cds_length": 5808,
"cds_start": 2908,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000713769.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.2908_2910delGCAinsAGT",
"hgvs_p": "p.Ala970Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519071.1",
"strand": false,
"transcript": "ENST00000713769.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1935,
"aa_ref": "A",
"aa_start": 970,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6044,
"cdna_start": 3032,
"cds_end": null,
"cds_length": 5808,
"cds_start": 2908,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858541.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.2908_2910delGCAinsAGT",
"hgvs_p": "p.Ala970Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528600.1",
"strand": false,
"transcript": "ENST00000858541.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1935,
"aa_ref": "A",
"aa_start": 970,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6046,
"cdna_start": 3036,
"cds_end": null,
"cds_length": 5808,
"cds_start": 2908,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858545.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.2908_2910delGCAinsAGT",
"hgvs_p": "p.Ala970Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528604.1",
"strand": false,
"transcript": "ENST00000858545.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1935,
"aa_ref": "A",
"aa_start": 970,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6044,
"cdna_start": 3034,
"cds_end": null,
"cds_length": 5808,
"cds_start": 2908,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858546.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.2908_2910delGCAinsAGT",
"hgvs_p": "p.Ala970Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528605.1",
"strand": false,
"transcript": "ENST00000858546.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1935,
"aa_ref": "A",
"aa_start": 970,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6093,
"cdna_start": 3081,
"cds_end": null,
"cds_length": 5808,
"cds_start": 2908,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858549.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.2908_2910delGCAinsAGT",
"hgvs_p": "p.Ala970Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528608.1",
"strand": false,
"transcript": "ENST00000858549.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1935,
"aa_ref": "A",
"aa_start": 970,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6043,
"cdna_start": 3031,
"cds_end": null,
"cds_length": 5808,
"cds_start": 2908,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858550.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.2908_2910delGCAinsAGT",
"hgvs_p": "p.Ala970Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528609.1",
"strand": false,
"transcript": "ENST00000858550.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1935,
"aa_ref": "A",
"aa_start": 970,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6002,
"cdna_start": 2992,
"cds_end": null,
"cds_length": 5808,
"cds_start": 2908,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858551.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.2908_2910delGCAinsAGT",
"hgvs_p": "p.Ala970Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528610.1",
"strand": false,
"transcript": "ENST00000858551.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1935,
"aa_ref": "A",
"aa_start": 970,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6181,
"cdna_start": 3170,
"cds_end": null,
"cds_length": 5808,
"cds_start": 2908,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000965935.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.2908_2910delGCAinsAGT",
"hgvs_p": "p.Ala970Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635994.1",
"strand": false,
"transcript": "ENST00000965935.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1935,
"aa_ref": "A",
"aa_start": 970,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6147,
"cdna_start": 3136,
"cds_end": null,
"cds_length": 5808,
"cds_start": 2908,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000965936.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.2908_2910delGCAinsAGT",
"hgvs_p": "p.Ala970Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635995.1",
"strand": false,
"transcript": "ENST00000965936.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1935,
"aa_ref": "A",
"aa_start": 970,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7448,
"cdna_start": 4437,
"cds_end": null,
"cds_length": 5808,
"cds_start": 2908,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000965937.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.2908_2910delGCAinsAGT",
"hgvs_p": "p.Ala970Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635996.1",
"strand": false,
"transcript": "ENST00000965937.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1935,
"aa_ref": "A",
"aa_start": 970,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6106,
"cdna_start": 3087,
"cds_end": null,
"cds_length": 5808,
"cds_start": 2908,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000965938.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.2908_2910delGCAinsAGT",
"hgvs_p": "p.Ala970Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635997.1",
"strand": false,
"transcript": "ENST00000965938.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1935,
"aa_ref": "A",
"aa_start": 970,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7448,
"cdna_start": 4437,
"cds_end": null,
"cds_length": 5808,
"cds_start": 2908,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000965941.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.2908_2910delGCAinsAGT",
"hgvs_p": "p.Ala970Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636000.1",
"strand": false,
"transcript": "ENST00000965941.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1935,
"aa_ref": "A",
"aa_start": 970,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6133,
"cdna_start": 3118,
"cds_end": null,
"cds_length": 5808,
"cds_start": 2908,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000965942.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.2908_2910delGCAinsAGT",
"hgvs_p": "p.Ala970Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636001.1",
"strand": false,
"transcript": "ENST00000965942.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1935,
"aa_ref": "A",
"aa_start": 970,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6022,
"cdna_start": 3009,
"cds_end": null,
"cds_length": 5808,
"cds_start": 2908,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000965943.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.2908_2910delGCAinsAGT",
"hgvs_p": "p.Ala970Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636002.1",
"strand": false,
"transcript": "ENST00000965943.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1935,
"aa_ref": "A",
"aa_start": 970,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6184,
"cdna_start": 3171,
"cds_end": null,
"cds_length": 5808,
"cds_start": 2908,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000965947.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.2908_2910delGCAinsAGT",
"hgvs_p": "p.Ala970Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636006.1",
"strand": false,
"transcript": "ENST00000965947.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1935,
"aa_ref": "A",
"aa_start": 970,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6163,
"cdna_start": 3152,
"cds_end": null,
"cds_length": 5808,
"cds_start": 2908,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000965950.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.2908_2910delGCAinsAGT",
"hgvs_p": "p.Ala970Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636009.1",
"strand": false,
"transcript": "ENST00000965950.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1935,
"aa_ref": "A",
"aa_start": 970,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6202,
"cdna_start": 3191,
"cds_end": null,
"cds_length": 5808,
"cds_start": 2908,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000965956.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.2908_2910delGCAinsAGT",
"hgvs_p": "p.Ala970Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636015.1",
"strand": false,
"transcript": "ENST00000965956.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1935,
"aa_ref": "A",
"aa_start": 970,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6256,
"cdna_start": 3245,
"cds_end": null,
"cds_length": 5808,
"cds_start": 2908,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000965958.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.2908_2910delGCAinsAGT",
"hgvs_p": "p.Ala970Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636017.1",
"strand": false,
"transcript": "ENST00000965958.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1934,
"aa_ref": "A",
"aa_start": 970,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6024,
"cdna_start": 3015,
"cds_end": null,
"cds_length": 5805,
"cds_start": 2908,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858543.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.2908_2910delGCAinsAGT",
"hgvs_p": "p.Ala970Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528602.1",
"strand": false,
"transcript": "ENST00000858543.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1933,
"aa_ref": "A",
"aa_start": 970,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6078,
"cdna_start": 3071,
"cds_end": null,
"cds_length": 5802,
"cds_start": 2908,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000965939.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.2908_2910delGCAinsAGT",
"hgvs_p": "p.Ala970Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635998.1",
"strand": false,
"transcript": "ENST00000965939.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1931,
"aa_ref": "A",
"aa_start": 966,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6015,
"cdna_start": 3003,
"cds_end": null,
"cds_length": 5796,
"cds_start": 2896,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858542.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.2896_2898delGCAinsAGT",
"hgvs_p": "p.Ala966Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528601.1",
"strand": false,
"transcript": "ENST00000858542.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1930,
"aa_ref": "A",
"aa_start": 965,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6017,
"cdna_start": 3006,
"cds_end": null,
"cds_length": 5793,
"cds_start": 2893,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000965944.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.2893_2895delGCAinsAGT",
"hgvs_p": "p.Ala965Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636003.1",
"strand": false,
"transcript": "ENST00000965944.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1921,
"aa_ref": "A",
"aa_start": 956,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5985,
"cdna_start": 2975,
"cds_end": null,
"cds_length": 5766,
"cds_start": 2866,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000965951.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.2866_2868delGCAinsAGT",
"hgvs_p": "p.Ala956Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636010.1",
"strand": false,
"transcript": "ENST00000965951.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1918,
"aa_ref": "A",
"aa_start": 970,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5979,
"cdna_start": 3017,
"cds_end": null,
"cds_length": 5757,
"cds_start": 2908,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000965945.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.2908_2910delGCAinsAGT",
"hgvs_p": "p.Ala970Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636004.1",
"strand": false,
"transcript": "ENST00000965945.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1918,
"aa_ref": "A",
"aa_start": 953,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5974,
"cdna_start": 2965,
"cds_end": null,
"cds_length": 5757,
"cds_start": 2857,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000965954.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.2857_2859delGCAinsAGT",
"hgvs_p": "p.Ala953Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636013.1",
"strand": false,
"transcript": "ENST00000965954.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1906,
"aa_ref": "A",
"aa_start": 941,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5998,
"cdna_start": 2986,
"cds_end": null,
"cds_length": 5721,
"cds_start": 2821,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858539.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.2821_2823delGCAinsAGT",
"hgvs_p": "p.Ala941Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528598.1",
"strand": false,
"transcript": "ENST00000858539.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1906,
"aa_ref": "A",
"aa_start": 941,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5885,
"cdna_start": 2873,
"cds_end": null,
"cds_length": 5721,
"cds_start": 2821,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000965948.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.2821_2823delGCAinsAGT",
"hgvs_p": "p.Ala941Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636007.1",
"strand": false,
"transcript": "ENST00000965948.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1906,
"aa_ref": "A",
"aa_start": 941,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5975,
"cdna_start": 2966,
"cds_end": null,
"cds_length": 5721,
"cds_start": 2821,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000965957.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.2821_2823delGCAinsAGT",
"hgvs_p": "p.Ala941Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636016.1",
"strand": false,
"transcript": "ENST00000965957.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1904,
"aa_ref": "A",
"aa_start": 939,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5991,
"cdna_start": 2980,
"cds_end": null,
"cds_length": 5715,
"cds_start": 2815,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000965940.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.2815_2817delGCAinsAGT",
"hgvs_p": "p.Ala939Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635999.1",
"strand": false,
"transcript": "ENST00000965940.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1904,
"aa_ref": "A",
"aa_start": 939,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5879,
"cdna_start": 2868,
"cds_end": null,
"cds_length": 5715,
"cds_start": 2815,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000965949.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.2815_2817delGCAinsAGT",
"hgvs_p": "p.Ala939Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636008.1",
"strand": false,
"transcript": "ENST00000965949.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1883,
"aa_ref": "A",
"aa_start": 918,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5869,
"cdna_start": 2859,
"cds_end": null,
"cds_length": 5652,
"cds_start": 2752,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858548.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.2752_2754delGCAinsAGT",
"hgvs_p": "p.Ala918Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528607.1",
"strand": false,
"transcript": "ENST00000858548.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1858,
"aa_ref": "A",
"aa_start": 893,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5796,
"cdna_start": 2785,
"cds_end": null,
"cds_length": 5577,
"cds_start": 2677,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000965953.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.2677_2679delGCAinsAGT",
"hgvs_p": "p.Ala893Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636012.1",
"strand": false,
"transcript": "ENST00000965953.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1630,
"aa_ref": "A",
"aa_start": 970,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5112,
"cdna_start": 3016,
"cds_end": null,
"cds_length": 4893,
"cds_start": 2908,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000965952.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.2908_2910delGCAinsAGT",
"hgvs_p": "p.Ala970Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636011.1",
"strand": false,
"transcript": "ENST00000965952.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1130,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3552,
"cdna_start": null,
"cds_end": null,
"cds_length": 3393,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000965959.1",
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"hgvs_c": "c.2889+19_2889+21delGCAinsAGT",
"hgvs_p": null,
"intron_rank": 22,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636018.1",
"strand": false,
"transcript": "ENST00000965959.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 7577,
"gene_symbol": "MYH7",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 9.786,
"pos": 23423919,
"ref": "TGC",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_000257.4"
}
]
}