← 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: 5-139325572-AAC-TCT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=139325572&ref=AAC&alt=TCT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "MATR3",
"hgnc_id": 6912,
"hgvs_c": "c.2425_2427delAACinsTCT",
"hgvs_p": "p.Asn809Ser",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001400441.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TCT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "5",
"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": 847,
"aa_ref": "N",
"aa_start": 761,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5069,
"cdna_start": 2524,
"cds_end": null,
"cds_length": 2544,
"cds_start": 2281,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_018834.6",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.2281_2283delAACinsTCT",
"hgvs_p": "p.Asn761Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000394805.8",
"protein_coding": true,
"protein_id": "NP_061322.2",
"strand": true,
"transcript": "NM_018834.6",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 847,
"aa_ref": "N",
"aa_start": 761,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5069,
"cdna_start": 2524,
"cds_end": null,
"cds_length": 2544,
"cds_start": 2281,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000394805.8",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.2281_2283delAACinsTCT",
"hgvs_p": "p.Asn761Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_018834.6",
"protein_coding": true,
"protein_id": "ENSP00000378284.3",
"strand": true,
"transcript": "ENST00000394805.8",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 895,
"aa_ref": "N",
"aa_start": 809,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4373,
"cdna_start": 3077,
"cds_end": null,
"cds_length": 2688,
"cds_start": 2425,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000502929.5",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.2425_2427delAACinsTCT",
"hgvs_p": "p.Asn809Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000422319.1",
"strand": true,
"transcript": "ENST00000502929.5",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 847,
"aa_ref": "N",
"aa_start": 761,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4018,
"cdna_start": 2709,
"cds_end": null,
"cds_length": 2544,
"cds_start": 2281,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000618441.5",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.2281_2283delAACinsTCT",
"hgvs_p": "p.Asn761Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000482895.1",
"strand": true,
"transcript": "ENST00000618441.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2250,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000502422.5",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "n.1734_1736delAACinsTCT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000502422.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 7306,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000505625.5",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "n.6001_6003delAACinsTCT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000505625.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 895,
"aa_ref": "N",
"aa_start": 809,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5242,
"cdna_start": 2697,
"cds_end": null,
"cds_length": 2688,
"cds_start": 2425,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001400441.1",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.2425_2427delAACinsTCT",
"hgvs_p": "p.Asn809Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001387370.1",
"strand": true,
"transcript": "NM_001400441.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 895,
"aa_ref": "N",
"aa_start": 809,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5399,
"cdna_start": 2854,
"cds_end": null,
"cds_length": 2688,
"cds_start": 2425,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001400442.1",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.2425_2427delAACinsTCT",
"hgvs_p": "p.Asn809Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001387371.1",
"strand": true,
"transcript": "NM_001400442.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 895,
"aa_ref": "N",
"aa_start": 809,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5238,
"cdna_start": 2693,
"cds_end": null,
"cds_length": 2688,
"cds_start": 2425,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001400443.1",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.2425_2427delAACinsTCT",
"hgvs_p": "p.Asn809Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001387372.1",
"strand": true,
"transcript": "NM_001400443.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 895,
"aa_ref": "N",
"aa_start": 809,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5522,
"cdna_start": 2977,
"cds_end": null,
"cds_length": 2688,
"cds_start": 2425,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001400444.1",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.2425_2427delAACinsTCT",
"hgvs_p": "p.Asn809Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001387373.1",
"strand": true,
"transcript": "NM_001400444.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 895,
"aa_ref": "N",
"aa_start": 809,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6405,
"cdna_start": 3860,
"cds_end": null,
"cds_length": 2688,
"cds_start": 2425,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001400445.1",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.2425_2427delAACinsTCT",
"hgvs_p": "p.Asn809Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001387374.1",
"strand": true,
"transcript": "NM_001400445.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 895,
"aa_ref": "N",
"aa_start": 809,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5513,
"cdna_start": 2974,
"cds_end": null,
"cds_length": 2688,
"cds_start": 2425,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000394800.6",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.2425_2427delAACinsTCT",
"hgvs_p": "p.Asn809Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000378279.2",
"strand": true,
"transcript": "ENST00000394800.6",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 895,
"aa_ref": "N",
"aa_start": 809,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5028,
"cdna_start": 2798,
"cds_end": null,
"cds_length": 2688,
"cds_start": 2425,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000910014.1",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.2425_2427delAACinsTCT",
"hgvs_p": "p.Asn809Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580073.1",
"strand": true,
"transcript": "ENST00000910014.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 895,
"aa_ref": "N",
"aa_start": 809,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4018,
"cdna_start": 2709,
"cds_end": null,
"cds_length": 2688,
"cds_start": 2425,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000910016.1",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.2425_2427delAACinsTCT",
"hgvs_p": "p.Asn809Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580075.1",
"strand": true,
"transcript": "ENST00000910016.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 895,
"aa_ref": "N",
"aa_start": 809,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3998,
"cdna_start": 2687,
"cds_end": null,
"cds_length": 2688,
"cds_start": 2425,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000910028.1",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.2425_2427delAACinsTCT",
"hgvs_p": "p.Asn809Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580087.1",
"strand": true,
"transcript": "ENST00000910028.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 895,
"aa_ref": "N",
"aa_start": 809,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4113,
"cdna_start": 2690,
"cds_end": null,
"cds_length": 2688,
"cds_start": 2425,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000928206.1",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.2425_2427delAACinsTCT",
"hgvs_p": "p.Asn809Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598265.1",
"strand": true,
"transcript": "ENST00000928206.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 895,
"aa_ref": "N",
"aa_start": 809,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4046,
"cdna_start": 2737,
"cds_end": null,
"cds_length": 2688,
"cds_start": 2425,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000928207.1",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.2425_2427delAACinsTCT",
"hgvs_p": "p.Asn809Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598266.1",
"strand": true,
"transcript": "ENST00000928207.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 895,
"aa_ref": "N",
"aa_start": 809,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3324,
"cdna_start": 2700,
"cds_end": null,
"cds_length": 2688,
"cds_start": 2425,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000955717.1",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.2425_2427delAACinsTCT",
"hgvs_p": "p.Asn809Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625776.1",
"strand": true,
"transcript": "ENST00000955717.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 893,
"aa_ref": "N",
"aa_start": 809,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3989,
"cdna_start": 2688,
"cds_end": null,
"cds_length": 2682,
"cds_start": 2425,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000928208.1",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.2425_2427delAACinsTCT",
"hgvs_p": "p.Asn809Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598267.1",
"strand": true,
"transcript": "ENST00000928208.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 869,
"aa_ref": "N",
"aa_start": 783,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3280,
"cdna_start": 2624,
"cds_end": null,
"cds_length": 2610,
"cds_start": 2347,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000910031.1",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.2347_2349delAACinsTCT",
"hgvs_p": "p.Asn783Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580090.1",
"strand": true,
"transcript": "ENST00000910031.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 862,
"aa_ref": "N",
"aa_start": 776,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3899,
"cdna_start": 2623,
"cds_end": null,
"cds_length": 2589,
"cds_start": 2326,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000910020.1",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.2326_2328delAACinsTCT",
"hgvs_p": "p.Asn776Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580079.1",
"strand": true,
"transcript": "ENST00000910020.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 862,
"aa_ref": "N",
"aa_start": 776,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3830,
"cdna_start": 2564,
"cds_end": null,
"cds_length": 2589,
"cds_start": 2326,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000955716.1",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.2326_2328delAACinsTCT",
"hgvs_p": "p.Asn776Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625775.1",
"strand": true,
"transcript": "ENST00000955716.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 847,
"aa_ref": "N",
"aa_start": 761,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5173,
"cdna_start": 2628,
"cds_end": null,
"cds_length": 2544,
"cds_start": 2281,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001194954.2",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.2281_2283delAACinsTCT",
"hgvs_p": "p.Asn761Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001181883.1",
"strand": true,
"transcript": "NM_001194954.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 847,
"aa_ref": "N",
"aa_start": 761,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5292,
"cdna_start": 2747,
"cds_end": null,
"cds_length": 2544,
"cds_start": 2281,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001194955.2",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.2281_2283delAACinsTCT",
"hgvs_p": "p.Asn761Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001181884.1",
"strand": true,
"transcript": "NM_001194955.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 847,
"aa_ref": "N",
"aa_start": 761,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5217,
"cdna_start": 2672,
"cds_end": null,
"cds_length": 2544,
"cds_start": 2281,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001400447.1",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.2281_2283delAACinsTCT",
"hgvs_p": "p.Asn761Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001387376.1",
"strand": true,
"transcript": "NM_001400447.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 847,
"aa_ref": "N",
"aa_start": 761,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5378,
"cdna_start": 2833,
"cds_end": null,
"cds_length": 2544,
"cds_start": 2281,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001400448.1",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.2281_2283delAACinsTCT",
"hgvs_p": "p.Asn761Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001387377.1",
"strand": true,
"transcript": "NM_001400448.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 847,
"aa_ref": "N",
"aa_start": 761,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5259,
"cdna_start": 2714,
"cds_end": null,
"cds_length": 2544,
"cds_start": 2281,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001400450.1",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.2281_2283delAACinsTCT",
"hgvs_p": "p.Asn761Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001387379.1",
"strand": true,
"transcript": "NM_001400450.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 847,
"aa_ref": "N",
"aa_start": 761,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5382,
"cdna_start": 2837,
"cds_end": null,
"cds_length": 2544,
"cds_start": 2281,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001400451.1",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.2281_2283delAACinsTCT",
"hgvs_p": "p.Asn761Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001387380.1",
"strand": true,
"transcript": "NM_001400451.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 847,
"aa_ref": "N",
"aa_start": 761,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5502,
"cdna_start": 2957,
"cds_end": null,
"cds_length": 2544,
"cds_start": 2281,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001400452.1",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.2281_2283delAACinsTCT",
"hgvs_p": "p.Asn761Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001387381.1",
"strand": true,
"transcript": "NM_001400452.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 847,
"aa_ref": "N",
"aa_start": 761,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5094,
"cdna_start": 2549,
"cds_end": null,
"cds_length": 2544,
"cds_start": 2281,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001400453.1",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.2281_2283delAACinsTCT",
"hgvs_p": "p.Asn761Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001387382.1",
"strand": true,
"transcript": "NM_001400453.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 847,
"aa_ref": "N",
"aa_start": 761,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5379,
"cdna_start": 2834,
"cds_end": null,
"cds_length": 2544,
"cds_start": 2281,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001400454.1",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.2281_2283delAACinsTCT",
"hgvs_p": "p.Asn761Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001387383.1",
"strand": true,
"transcript": "NM_001400454.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 847,
"aa_ref": "N",
"aa_start": 761,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5444,
"cdna_start": 2899,
"cds_end": null,
"cds_length": 2544,
"cds_start": 2281,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001400455.1",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.2281_2283delAACinsTCT",
"hgvs_p": "p.Asn761Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001387384.1",
"strand": true,
"transcript": "NM_001400455.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 847,
"aa_ref": "N",
"aa_start": 761,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6610,
"cdna_start": 4065,
"cds_end": null,
"cds_length": 2544,
"cds_start": 2281,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001400456.1",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.2281_2283delAACinsTCT",
"hgvs_p": "p.Asn761Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001387385.1",
"strand": true,
"transcript": "NM_001400456.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 847,
"aa_ref": "N",
"aa_start": 761,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5880,
"cdna_start": 3335,
"cds_end": null,
"cds_length": 2544,
"cds_start": 2281,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001400457.1",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.2281_2283delAACinsTCT",
"hgvs_p": "p.Asn761Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001387386.1",
"strand": true,
"transcript": "NM_001400457.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 847,
"aa_ref": "N",
"aa_start": 761,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5884,
"cdna_start": 3339,
"cds_end": null,
"cds_length": 2544,
"cds_start": 2281,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001400458.1",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.2281_2283delAACinsTCT",
"hgvs_p": "p.Asn761Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001387387.1",
"strand": true,
"transcript": "NM_001400458.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 847,
"aa_ref": "N",
"aa_start": 761,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5255,
"cdna_start": 2710,
"cds_end": null,
"cds_length": 2544,
"cds_start": 2281,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_199189.3",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.2281_2283delAACinsTCT",
"hgvs_p": "p.Asn761Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_954659.1",
"strand": true,
"transcript": "NM_199189.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 847,
"aa_ref": "N",
"aa_start": 761,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3970,
"cdna_start": 2708,
"cds_end": null,
"cds_length": 2544,
"cds_start": 2281,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000361059.7",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.2281_2283delAACinsTCT",
"hgvs_p": "p.Asn761Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000354346.4",
"strand": true,
"transcript": "ENST00000361059.7",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 847,
"aa_ref": "N",
"aa_start": 761,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3249,
"cdna_start": 2977,
"cds_end": null,
"cds_length": 2544,
"cds_start": 2281,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000509990.5",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.2281_2283delAACinsTCT",
"hgvs_p": "p.Asn761Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000423533.1",
"strand": true,
"transcript": "ENST00000509990.5",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 847,
"aa_ref": "N",
"aa_start": 761,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4877,
"cdna_start": 2647,
"cds_end": null,
"cds_length": 2544,
"cds_start": 2281,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000910013.1",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.2281_2283delAACinsTCT",
"hgvs_p": "p.Asn761Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580072.1",
"strand": true,
"transcript": "ENST00000910013.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 847,
"aa_ref": "N",
"aa_start": 761,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3906,
"cdna_start": 2593,
"cds_end": null,
"cds_length": 2544,
"cds_start": 2281,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000910017.1",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.2281_2283delAACinsTCT",
"hgvs_p": "p.Asn761Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580076.1",
"strand": true,
"transcript": "ENST00000910017.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 847,
"aa_ref": "N",
"aa_start": 761,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3861,
"cdna_start": 2582,
"cds_end": null,
"cds_length": 2544,
"cds_start": 2281,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000910019.1",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.2281_2283delAACinsTCT",
"hgvs_p": "p.Asn761Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580078.1",
"strand": true,
"transcript": "ENST00000910019.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 847,
"aa_ref": "N",
"aa_start": 761,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4628,
"cdna_start": 3317,
"cds_end": null,
"cds_length": 2544,
"cds_start": 2281,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000928211.1",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.2281_2283delAACinsTCT",
"hgvs_p": "p.Asn761Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598270.1",
"strand": true,
"transcript": "ENST00000928211.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 847,
"aa_ref": "N",
"aa_start": 761,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3819,
"cdna_start": 2510,
"cds_end": null,
"cds_length": 2544,
"cds_start": 2281,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000955715.1",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.2281_2283delAACinsTCT",
"hgvs_p": "p.Asn761Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625774.1",
"strand": true,
"transcript": "ENST00000955715.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 845,
"aa_ref": "N",
"aa_start": 761,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3861,
"cdna_start": 2558,
"cds_end": null,
"cds_length": 2538,
"cds_start": 2281,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000910018.1",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.2281_2283delAACinsTCT",
"hgvs_p": "p.Asn761Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580077.1",
"strand": true,
"transcript": "ENST00000910018.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 845,
"aa_ref": "N",
"aa_start": 759,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3815,
"cdna_start": 2509,
"cds_end": null,
"cds_length": 2538,
"cds_start": 2275,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000910021.1",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.2275_2277delAACinsTCT",
"hgvs_p": "p.Asn759Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580080.1",
"strand": true,
"transcript": "ENST00000910021.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 845,
"aa_ref": "N",
"aa_start": 761,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3781,
"cdna_start": 2524,
"cds_end": null,
"cds_length": 2538,
"cds_start": 2281,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000910030.1",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.2281_2283delAACinsTCT",
"hgvs_p": "p.Asn761Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580089.1",
"strand": true,
"transcript": "ENST00000910030.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 839,
"aa_ref": "N",
"aa_start": 753,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3812,
"cdna_start": 2500,
"cds_end": null,
"cds_length": 2520,
"cds_start": 2257,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000910024.1",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.2257_2259delAACinsTCT",
"hgvs_p": "p.Asn753Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580083.1",
"strand": true,
"transcript": "ENST00000910024.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 838,
"aa_ref": "N",
"aa_start": 761,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3757,
"cdna_start": 2534,
"cds_end": null,
"cds_length": 2517,
"cds_start": 2281,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000910027.1",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.2281_2283delAACinsTCT",
"hgvs_p": "p.Asn761Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580086.1",
"strand": true,
"transcript": "ENST00000910027.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 821,
"aa_ref": "N",
"aa_start": 735,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3776,
"cdna_start": 2467,
"cds_end": null,
"cds_length": 2466,
"cds_start": 2203,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000910022.1",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.2203_2205delAACinsTCT",
"hgvs_p": "p.Asn735Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580081.1",
"strand": true,
"transcript": "ENST00000910022.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 821,
"aa_ref": "N",
"aa_start": 735,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3709,
"cdna_start": 2430,
"cds_end": null,
"cds_length": 2466,
"cds_start": 2203,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000928210.1",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.2203_2205delAACinsTCT",
"hgvs_p": "p.Asn735Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598269.1",
"strand": true,
"transcript": "ENST00000928210.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 805,
"aa_ref": "N",
"aa_start": 719,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3685,
"cdna_start": 2419,
"cds_end": null,
"cds_length": 2418,
"cds_start": 2155,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000910026.1",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.2155_2157delAACinsTCT",
"hgvs_p": "p.Asn719Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580085.1",
"strand": true,
"transcript": "ENST00000910026.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 805,
"aa_ref": "N",
"aa_start": 719,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3701,
"cdna_start": 2425,
"cds_end": null,
"cds_length": 2418,
"cds_start": 2155,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000955713.1",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.2155_2157delAACinsTCT",
"hgvs_p": "p.Asn719Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625772.1",
"strand": true,
"transcript": "ENST00000955713.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 794,
"aa_ref": "N",
"aa_start": 761,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3040,
"cdna_start": 2534,
"cds_end": null,
"cds_length": 2385,
"cds_start": 2281,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000510056.5",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.2281_2283delAACinsTCT",
"hgvs_p": "p.Asn761Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000426743.1",
"strand": true,
"transcript": "ENST00000510056.5",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 791,
"aa_ref": "N",
"aa_start": 705,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3760,
"cdna_start": 2451,
"cds_end": null,
"cds_length": 2376,
"cds_start": 2113,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000910015.1",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.2113_2115delAACinsTCT",
"hgvs_p": "p.Asn705Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580074.1",
"strand": true,
"transcript": "ENST00000910015.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 791,
"aa_ref": "N",
"aa_start": 705,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3621,
"cdna_start": 2345,
"cds_end": null,
"cds_length": 2376,
"cds_start": 2113,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000910029.1",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.2113_2115delAACinsTCT",
"hgvs_p": "p.Asn705Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580088.1",
"strand": true,
"transcript": "ENST00000910029.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 791,
"aa_ref": "N",
"aa_start": 705,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3665,
"cdna_start": 2389,
"cds_end": null,
"cds_length": 2376,
"cds_start": 2113,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000955711.1",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.2113_2115delAACinsTCT",
"hgvs_p": "p.Asn705Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625770.1",
"strand": true,
"transcript": "ENST00000955711.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 777,
"aa_ref": "N",
"aa_start": 691,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3576,
"cdna_start": 2303,
"cds_end": null,
"cds_length": 2334,
"cds_start": 2071,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000955714.1",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.2071_2073delAACinsTCT",
"hgvs_p": "p.Asn691Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625773.1",
"strand": true,
"transcript": "ENST00000955714.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 749,
"aa_ref": "N",
"aa_start": 663,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3540,
"cdna_start": 2231,
"cds_end": null,
"cds_length": 2250,
"cds_start": 1987,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000955712.1",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.1987_1989delAACinsTCT",
"hgvs_p": "p.Asn663Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625771.1",
"strand": true,
"transcript": "ENST00000955712.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 560,
"aa_ref": "N",
"aa_start": 474,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4290,
"cdna_start": 1745,
"cds_end": null,
"cds_length": 1683,
"cds_start": 1420,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001400459.1",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.1420_1422delAACinsTCT",
"hgvs_p": "p.Asn474Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001387388.1",
"strand": true,
"transcript": "NM_001400459.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 559,
"aa_ref": "N",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4203,
"cdna_start": 1658,
"cds_end": null,
"cds_length": 1680,
"cds_start": 1417,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001194956.2",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.1417_1419delAACinsTCT",
"hgvs_p": "p.Asn473Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001181885.1",
"strand": true,
"transcript": "NM_001194956.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 559,
"aa_ref": "N",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2518,
"cdna_start": 1648,
"cds_end": null,
"cds_length": 1680,
"cds_start": 1417,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000503811.5",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.1417_1419delAACinsTCT",
"hgvs_p": "p.Asn473Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000423587.1",
"strand": true,
"transcript": "ENST00000503811.5",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 557,
"aa_ref": "N",
"aa_start": 471,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4310,
"cdna_start": 1765,
"cds_end": null,
"cds_length": 1674,
"cds_start": 1411,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001400460.1",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.1411_1413delAACinsTCT",
"hgvs_p": "p.Asn471Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001387389.1",
"strand": true,
"transcript": "NM_001400460.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 547,
"aa_ref": "N",
"aa_start": 461,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4005,
"cdna_start": 1460,
"cds_end": null,
"cds_length": 1644,
"cds_start": 1381,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001400461.1",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.1381_1383delAACinsTCT",
"hgvs_p": "p.Asn461Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001387390.1",
"strand": true,
"transcript": "NM_001400461.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 509,
"aa_ref": "N",
"aa_start": 423,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4166,
"cdna_start": 1621,
"cds_end": null,
"cds_length": 1530,
"cds_start": 1267,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001282278.2",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.1267_1269delAACinsTCT",
"hgvs_p": "p.Asn423Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269207.1",
"strand": true,
"transcript": "NM_001282278.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 509,
"aa_ref": "N",
"aa_start": 423,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4104,
"cdna_start": 1559,
"cds_end": null,
"cds_length": 1530,
"cds_start": 1267,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001400462.1",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.1267_1269delAACinsTCT",
"hgvs_p": "p.Asn423Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001387391.1",
"strand": true,
"transcript": "NM_001400462.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 509,
"aa_ref": "N",
"aa_start": 423,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4289,
"cdna_start": 1744,
"cds_end": null,
"cds_length": 1530,
"cds_start": 1267,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001400463.1",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.1267_1269delAACinsTCT",
"hgvs_p": "p.Asn423Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001387392.1",
"strand": true,
"transcript": "NM_001400463.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 509,
"aa_ref": "N",
"aa_start": 423,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4084,
"cdna_start": 1539,
"cds_end": null,
"cds_length": 1530,
"cds_start": 1267,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001400464.1",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.1267_1269delAACinsTCT",
"hgvs_p": "p.Asn423Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001387393.1",
"strand": true,
"transcript": "NM_001400464.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 509,
"aa_ref": "N",
"aa_start": 423,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5644,
"cdna_start": 3099,
"cds_end": null,
"cds_length": 1530,
"cds_start": 1267,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001400465.1",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.1267_1269delAACinsTCT",
"hgvs_p": "p.Asn423Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001387394.1",
"strand": true,
"transcript": "NM_001400465.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 509,
"aa_ref": "N",
"aa_start": 423,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5172,
"cdna_start": 2627,
"cds_end": null,
"cds_length": 1530,
"cds_start": 1267,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001400466.1",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.1267_1269delAACinsTCT",
"hgvs_p": "p.Asn423Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001387395.1",
"strand": true,
"transcript": "NM_001400466.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 509,
"aa_ref": "N",
"aa_start": 423,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5110,
"cdna_start": 2565,
"cds_end": null,
"cds_length": 1530,
"cds_start": 1267,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001400467.1",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.1267_1269delAACinsTCT",
"hgvs_p": "p.Asn423Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001387396.1",
"strand": true,
"transcript": "NM_001400467.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 509,
"aa_ref": "N",
"aa_start": 423,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2664,
"cdna_start": 1391,
"cds_end": null,
"cds_length": 1530,
"cds_start": 1267,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000502499.5",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.1267_1269delAACinsTCT",
"hgvs_p": "p.Asn423Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000426030.1",
"strand": true,
"transcript": "ENST00000502499.5",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 509,
"aa_ref": "N",
"aa_start": 423,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2243,
"cdna_start": 1618,
"cds_end": null,
"cds_length": 1530,
"cds_start": 1267,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000504203.5",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.1267_1269delAACinsTCT",
"hgvs_p": "p.Asn423Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000421218.1",
"strand": true,
"transcript": "ENST00000504203.5",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 481,
"aa_ref": "N",
"aa_start": 395,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2754,
"cdna_start": 1481,
"cds_end": null,
"cds_length": 1446,
"cds_start": 1183,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000910023.1",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.1183_1185delAACinsTCT",
"hgvs_p": "p.Asn395Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580082.1",
"strand": true,
"transcript": "ENST00000910023.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 800,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3656,
"cdna_start": null,
"cds_end": null,
"cds_length": 2403,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000928209.1",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.2230+51_2230+53delAACinsTCT",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598268.1",
"strand": true,
"transcript": "ENST00000928209.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 732,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3490,
"cdna_start": null,
"cds_end": null,
"cds_length": 2199,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000910025.1",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "c.2148+2605_2148+2607delAACinsTCT",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580084.1",
"strand": true,
"transcript": "ENST00000910025.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 642,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000512040.1",
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"hgvs_c": "n.459_461delAACinsTCT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000512040.1",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 6912,
"gene_symbol": "MATR3",
"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": "Uncertain_significance",
"phylop100way_score": 5.243,
"pos": 139325572,
"ref": "AAC",
"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_001400441.1"
}
]
}