← 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: 19-55134091-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=55134091&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 55134091,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_003283.6",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.725C>G",
"hgvs_p": "p.Ala242Gly",
"transcript": "NM_003283.6",
"protein_id": "NP_003274.3",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 278,
"cds_start": 725,
"cds_end": null,
"cds_length": 837,
"cdna_start": 782,
"cdna_end": null,
"cdna_length": 1111,
"mane_select": "ENST00000588981.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003283.6"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.725C>G",
"hgvs_p": "p.Ala242Gly",
"transcript": "ENST00000588981.6",
"protein_id": "ENSP00000467176.1",
"transcript_support_level": 1,
"aa_start": 242,
"aa_end": null,
"aa_length": 278,
"cds_start": 725,
"cds_end": null,
"cds_length": 837,
"cdna_start": 782,
"cdna_end": null,
"cdna_length": 1111,
"mane_select": "NM_003283.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000588981.6"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.677C>G",
"hgvs_p": "p.Ala226Gly",
"transcript": "ENST00000291901.12",
"protein_id": "ENSP00000291901.8",
"transcript_support_level": 1,
"aa_start": 226,
"aa_end": null,
"aa_length": 262,
"cds_start": 677,
"cds_end": null,
"cds_length": 789,
"cdna_start": 734,
"cdna_end": null,
"cdna_length": 967,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000291901.12"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.644C>G",
"hgvs_p": "p.Ala215Gly",
"transcript": "ENST00000356783.9",
"protein_id": "ENSP00000349233.4",
"transcript_support_level": 1,
"aa_start": 215,
"aa_end": null,
"aa_length": 251,
"cds_start": 644,
"cds_end": null,
"cds_length": 756,
"cdna_start": 701,
"cdna_end": null,
"cdna_length": 934,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356783.9"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.644C>G",
"hgvs_p": "p.Ala215Gly",
"transcript": "ENST00000587758.5",
"protein_id": "ENSP00000467789.1",
"transcript_support_level": 1,
"aa_start": 215,
"aa_end": null,
"aa_length": 251,
"cds_start": 644,
"cds_end": null,
"cds_length": 756,
"cdna_start": 783,
"cdna_end": null,
"cdna_length": 1016,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000587758.5"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.890C>G",
"hgvs_p": "p.Ala297Gly",
"transcript": "ENST00000964355.1",
"protein_id": "ENSP00000634414.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 333,
"cds_start": 890,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 1092,
"cdna_end": null,
"cdna_length": 1412,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964355.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.857C>G",
"hgvs_p": "p.Ala286Gly",
"transcript": "ENST00000964357.1",
"protein_id": "ENSP00000634416.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 322,
"cds_start": 857,
"cds_end": null,
"cds_length": 969,
"cdna_start": 915,
"cdna_end": null,
"cdna_length": 1143,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964357.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.692C>G",
"hgvs_p": "p.Ala231Gly",
"transcript": "ENST00000964358.1",
"protein_id": "ENSP00000634417.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 267,
"cds_start": 692,
"cds_end": null,
"cds_length": 804,
"cdna_start": 749,
"cdna_end": null,
"cdna_length": 949,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964358.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.677C>G",
"hgvs_p": "p.Ala226Gly",
"transcript": "NM_001126132.3",
"protein_id": "NP_001119604.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 262,
"cds_start": 677,
"cds_end": null,
"cds_length": 789,
"cdna_start": 734,
"cdna_end": null,
"cdna_length": 1063,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001126132.3"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.674C>G",
"hgvs_p": "p.Ala225Gly",
"transcript": "ENST00000964356.1",
"protein_id": "ENSP00000634415.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 261,
"cds_start": 674,
"cds_end": null,
"cds_length": 786,
"cdna_start": 876,
"cdna_end": null,
"cdna_length": 1110,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964356.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.677C>G",
"hgvs_p": "p.Ala226Gly",
"transcript": "ENST00000964359.1",
"protein_id": "ENSP00000634418.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 261,
"cds_start": 677,
"cds_end": null,
"cds_length": 786,
"cdna_start": 734,
"cdna_end": null,
"cdna_length": 930,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964359.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.662C>G",
"hgvs_p": "p.Ala221Gly",
"transcript": "ENST00000964364.1",
"protein_id": "ENSP00000634423.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 257,
"cds_start": 662,
"cds_end": null,
"cds_length": 774,
"cdna_start": 719,
"cdna_end": null,
"cdna_length": 912,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964364.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.644C>G",
"hgvs_p": "p.Ala215Gly",
"transcript": "NM_001126133.3",
"protein_id": "NP_001119605.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 251,
"cds_start": 644,
"cds_end": null,
"cds_length": 756,
"cdna_start": 701,
"cdna_end": null,
"cdna_length": 1030,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001126133.3"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.644C>G",
"hgvs_p": "p.Ala215Gly",
"transcript": "NM_001291774.2",
"protein_id": "NP_001278703.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 251,
"cds_start": 644,
"cds_end": null,
"cds_length": 756,
"cdna_start": 796,
"cdna_end": null,
"cdna_length": 1125,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291774.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.641C>G",
"hgvs_p": "p.Ala214Gly",
"transcript": "ENST00000964361.1",
"protein_id": "ENSP00000634420.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 250,
"cds_start": 641,
"cds_end": null,
"cds_length": 753,
"cdna_start": 699,
"cdna_end": null,
"cdna_length": 896,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964361.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.638C>G",
"hgvs_p": "p.Ala213Gly",
"transcript": "ENST00000964363.1",
"protein_id": "ENSP00000634422.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 249,
"cds_start": 638,
"cds_end": null,
"cds_length": 750,
"cdna_start": 695,
"cdna_end": null,
"cdna_length": 888,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964363.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.635C>G",
"hgvs_p": "p.Ala212Gly",
"transcript": "ENST00000964365.1",
"protein_id": "ENSP00000634424.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 248,
"cds_start": 635,
"cds_end": null,
"cds_length": 747,
"cdna_start": 692,
"cdna_end": null,
"cdna_length": 880,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964365.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.599C>G",
"hgvs_p": "p.Ala200Gly",
"transcript": "ENST00000964360.1",
"protein_id": "ENSP00000634419.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 236,
"cds_start": 599,
"cds_end": null,
"cds_length": 711,
"cdna_start": 656,
"cdna_end": null,
"cdna_length": 855,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964360.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.518C>G",
"hgvs_p": "p.Ala173Gly",
"transcript": "ENST00000593194.5",
"protein_id": "ENSP00000467881.2",
"transcript_support_level": 2,
"aa_start": 173,
"aa_end": null,
"aa_length": 209,
"cds_start": 518,
"cds_end": null,
"cds_length": 630,
"cdna_start": 520,
"cdna_end": null,
"cdna_length": 721,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000593194.5"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.467C>G",
"hgvs_p": "p.Ala156Gly",
"transcript": "ENST00000585321.6",
"protein_id": "ENSP00000467980.2",
"transcript_support_level": 5,
"aa_start": 156,
"aa_end": null,
"aa_length": 192,
"cds_start": 467,
"cds_end": null,
"cds_length": 579,
"cdna_start": 833,
"cdna_end": null,
"cdna_length": 995,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000585321.6"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.467C>G",
"hgvs_p": "p.Ala156Gly",
"transcript": "ENST00000587465.6",
"protein_id": "ENSP00000464843.2",
"transcript_support_level": 5,
"aa_start": 156,
"aa_end": null,
"aa_length": 192,
"cds_start": 467,
"cds_end": null,
"cds_length": 579,
"cdna_start": 873,
"cdna_end": null,
"cdna_length": 1065,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000587465.6"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.368C>G",
"hgvs_p": "p.Ala123Gly",
"transcript": "ENST00000588426.5",
"protein_id": "ENSP00000465991.1",
"transcript_support_level": 5,
"aa_start": 123,
"aa_end": null,
"aa_length": 159,
"cds_start": 368,
"cds_end": null,
"cds_length": 480,
"cdna_start": 450,
"cdna_end": null,
"cdna_length": 683,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000588426.5"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.329C>G",
"hgvs_p": "p.Ala110Gly",
"transcript": "ENST00000589745.5",
"protein_id": "ENSP00000465686.2",
"transcript_support_level": 2,
"aa_start": 110,
"aa_end": null,
"aa_length": 146,
"cds_start": 329,
"cds_end": null,
"cds_length": 441,
"cdna_start": 330,
"cdna_end": null,
"cdna_length": 529,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589745.5"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.140C>G",
"hgvs_p": "p.Ala47Gly",
"transcript": "ENST00000586649.2",
"protein_id": "ENSP00000469564.1",
"transcript_support_level": 5,
"aa_start": 47,
"aa_end": null,
"aa_length": 103,
"cds_start": 140,
"cds_end": null,
"cds_length": 312,
"cdna_start": 141,
"cdna_end": null,
"cdna_length": 340,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000586649.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.194C>G",
"hgvs_p": "p.Ala65Gly",
"transcript": "ENST00000964362.1",
"protein_id": "ENSP00000634421.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 101,
"cds_start": 194,
"cds_end": null,
"cds_length": 306,
"cdna_start": 251,
"cdna_end": null,
"cdna_length": 447,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964362.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.677C>G",
"hgvs_p": "p.Ala226Gly",
"transcript": "XM_017027186.2",
"protein_id": "XP_016882675.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 262,
"cds_start": 677,
"cds_end": null,
"cds_length": 789,
"cdna_start": 829,
"cdna_end": null,
"cdna_length": 1158,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017027186.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.665C>G",
"hgvs_p": "p.Ala222Gly",
"transcript": "XM_011527246.4",
"protein_id": "XP_011525548.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 258,
"cds_start": 665,
"cds_end": null,
"cds_length": 777,
"cdna_start": 722,
"cdna_end": null,
"cdna_length": 1051,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527246.4"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "c.665C>G",
"hgvs_p": "p.Ala222Gly",
"transcript": "XM_017027187.2",
"protein_id": "XP_016882676.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 258,
"cds_start": 665,
"cds_end": null,
"cds_length": 777,
"cdna_start": 817,
"cdna_end": null,
"cdna_length": 1146,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017027187.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "n.*526C>G",
"hgvs_p": null,
"transcript": "ENST00000587089.6",
"protein_id": "ENSP00000465544.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 880,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000587089.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"hgvs_c": "n.*526C>G",
"hgvs_p": null,
"transcript": "ENST00000587089.6",
"protein_id": "ENSP00000465544.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 880,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000587089.6"
}
],
"gene_symbol": "TNNT1",
"gene_hgnc_id": 11948,
"dbsnp": "rs779112211",
"frequency_reference_population": 0.0000013693697,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136937,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1447744369506836,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.298,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1743,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.468,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM5,BP4_Moderate",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 2,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PM5",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_003283.6",
"gene_symbol": "TNNT1",
"hgnc_id": 11948,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.725C>G",
"hgvs_p": "p.Ala242Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}