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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: 4-682080-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=682080&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 682080,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001294341.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC49A3",
"gene_hgnc_id": 26177,
"hgvs_c": "c.1558G>C",
"hgvs_p": "p.Gly520Arg",
"transcript": "NM_032219.4",
"protein_id": "NP_115595.2",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 559,
"cds_start": 1558,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000322224.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032219.4"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC49A3",
"gene_hgnc_id": 26177,
"hgvs_c": "c.1558G>C",
"hgvs_p": "p.Gly520Arg",
"transcript": "ENST00000322224.9",
"protein_id": "ENSP00000320234.4",
"transcript_support_level": 1,
"aa_start": 520,
"aa_end": null,
"aa_length": 559,
"cds_start": 1558,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032219.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000322224.9"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC49A3",
"gene_hgnc_id": 26177,
"hgvs_c": "c.1561G>C",
"hgvs_p": "p.Gly521Arg",
"transcript": "ENST00000404286.6",
"protein_id": "ENSP00000384616.2",
"transcript_support_level": 1,
"aa_start": 521,
"aa_end": null,
"aa_length": 560,
"cds_start": 1561,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000404286.6"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC49A3",
"gene_hgnc_id": 26177,
"hgvs_c": "c.1561G>C",
"hgvs_p": "p.Gly521Arg",
"transcript": "NM_001294341.2",
"protein_id": "NP_001281270.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 560,
"cds_start": 1561,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001294341.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC49A3",
"gene_hgnc_id": 26177,
"hgvs_c": "c.1441G>C",
"hgvs_p": "p.Gly481Arg",
"transcript": "ENST00000894937.1",
"protein_id": "ENSP00000564996.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 520,
"cds_start": 1441,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894937.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC49A3",
"gene_hgnc_id": 26177,
"hgvs_c": "c.1327G>C",
"hgvs_p": "p.Gly443Arg",
"transcript": "ENST00000894935.1",
"protein_id": "ENSP00000564994.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 482,
"cds_start": 1327,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894935.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC49A3",
"gene_hgnc_id": 26177,
"hgvs_c": "c.1324G>C",
"hgvs_p": "p.Gly442Arg",
"transcript": "NM_001378061.1",
"protein_id": "NP_001364990.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 481,
"cds_start": 1324,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378061.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC49A3",
"gene_hgnc_id": 26177,
"hgvs_c": "c.1324G>C",
"hgvs_p": "p.Gly442Arg",
"transcript": "ENST00000894936.1",
"protein_id": "ENSP00000564995.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 481,
"cds_start": 1324,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894936.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC49A3",
"gene_hgnc_id": 26177,
"hgvs_c": "c.1270G>C",
"hgvs_p": "p.Gly424Arg",
"transcript": "NM_001378059.1",
"protein_id": "NP_001364988.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 463,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378059.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC49A3",
"gene_hgnc_id": 26177,
"hgvs_c": "c.1270G>C",
"hgvs_p": "p.Gly424Arg",
"transcript": "ENST00000515118.5",
"protein_id": "ENSP00000423204.1",
"transcript_support_level": 5,
"aa_start": 424,
"aa_end": null,
"aa_length": 463,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000515118.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC49A3",
"gene_hgnc_id": 26177,
"hgvs_c": "c.1267G>C",
"hgvs_p": "p.Gly423Arg",
"transcript": "NM_001378060.1",
"protein_id": "NP_001364989.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 462,
"cds_start": 1267,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378060.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC49A3",
"gene_hgnc_id": 26177,
"hgvs_c": "c.1267G>C",
"hgvs_p": "p.Gly423Arg",
"transcript": "ENST00000894934.1",
"protein_id": "ENSP00000564993.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 462,
"cds_start": 1267,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894934.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC49A3",
"gene_hgnc_id": 26177,
"hgvs_c": "c.1207G>C",
"hgvs_p": "p.Gly403Arg",
"transcript": "ENST00000965820.1",
"protein_id": "ENSP00000635879.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 442,
"cds_start": 1207,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965820.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC49A3",
"gene_hgnc_id": 26177,
"hgvs_c": "c.1204G>C",
"hgvs_p": "p.Gly402Arg",
"transcript": "NM_001294342.2",
"protein_id": "NP_001281271.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 441,
"cds_start": 1204,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001294342.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC49A3",
"gene_hgnc_id": 26177,
"hgvs_c": "c.1204G>C",
"hgvs_p": "p.Gly402Arg",
"transcript": "ENST00000347950.9",
"protein_id": "ENSP00000307545.5",
"transcript_support_level": 2,
"aa_start": 402,
"aa_end": null,
"aa_length": 441,
"cds_start": 1204,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000347950.9"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC49A3",
"gene_hgnc_id": 26177,
"hgvs_c": "c.1201G>C",
"hgvs_p": "p.Gly401Arg",
"transcript": "NM_001378062.1",
"protein_id": "NP_001364991.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 440,
"cds_start": 1201,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378062.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC49A3",
"gene_hgnc_id": 26177,
"hgvs_c": "c.1150G>C",
"hgvs_p": "p.Gly384Arg",
"transcript": "ENST00000894938.1",
"protein_id": "ENSP00000564997.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 423,
"cds_start": 1150,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894938.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC49A3",
"gene_hgnc_id": 26177,
"hgvs_c": "c.1129G>C",
"hgvs_p": "p.Gly377Arg",
"transcript": "ENST00000965819.1",
"protein_id": "ENSP00000635878.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 416,
"cds_start": 1129,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965819.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC49A3",
"gene_hgnc_id": 26177,
"hgvs_c": "c.952G>C",
"hgvs_p": "p.Gly318Arg",
"transcript": "ENST00000931981.1",
"protein_id": "ENSP00000602040.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 357,
"cds_start": 952,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931981.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC49A3",
"gene_hgnc_id": 26177,
"hgvs_c": "c.1648G>C",
"hgvs_p": "p.Gly550Arg",
"transcript": "XM_047416284.1",
"protein_id": "XP_047272240.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 589,
"cds_start": 1648,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416284.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC49A3",
"gene_hgnc_id": 26177,
"hgvs_c": "c.1519G>C",
"hgvs_p": "p.Gly507Arg",
"transcript": "XM_047416279.1",
"protein_id": "XP_047272235.1",
"transcript_support_level": null,
"aa_start": 507,
"aa_end": null,
"aa_length": 546,
"cds_start": 1519,
"cds_end": null,
"cds_length": 1641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416279.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC49A3",
"gene_hgnc_id": 26177,
"hgvs_c": "c.1453G>C",
"hgvs_p": "p.Gly485Arg",
"transcript": "XM_047416280.1",
"protein_id": "XP_047272236.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 524,
"cds_start": 1453,
"cds_end": null,
"cds_length": 1575,
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"transcript": "XM_047415728.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 178,
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"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415728.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL5",
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"hgvs_c": "c.*86C>G",
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"transcript": "XM_047415729.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 173,
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"cds_end": null,
"cds_length": 522,
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"biotype": "protein_coding",
"feature": "XM_047415729.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL5",
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"hgvs_c": "c.*86C>G",
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"transcript": "XM_047415730.1",
"protein_id": "XP_047271686.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 173,
"cds_start": null,
"cds_end": null,
"cds_length": 522,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415730.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": null,
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"gene_symbol": "MYL5",
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"hgvs_c": "n.*430C>G",
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"transcript": "ENST00000503300.5",
"protein_id": "ENSP00000424528.1",
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"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": null,
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"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000503300.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 2,
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"gene_symbol": "MYL5",
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"hgvs_c": "n.*52C>G",
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"transcript": "ENST00000503612.1",
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"transcript_support_level": 2,
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"aa_end": null,
"aa_length": null,
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"cds_end": null,
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"biotype": "retained_intron",
"feature": "ENST00000503612.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYL5",
"gene_hgnc_id": 7586,
"hgvs_c": "n.*430C>G",
"hgvs_p": null,
"transcript": "ENST00000513662.1",
"protein_id": "ENSP00000423053.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000513662.1"
}
],
"gene_symbol": "SLC49A3",
"gene_hgnc_id": 26177,
"dbsnp": "rs770490496",
"frequency_reference_population": 0.000017790404,
"hom_count_reference_population": 0,
"allele_count_reference_population": 25,
"gnomad_exomes_af": 0.000014366,
"gnomad_genomes_af": 0.0000459643,
"gnomad_exomes_ac": 18,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03732365369796753,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.182,
"revel_prediction": "Benign",
"alphamissense_score": 0.1659,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.25,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.312,
"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": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001294341.2",
"gene_symbol": "SLC49A3",
"hgnc_id": 26177,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1561G>C",
"hgvs_p": "p.Gly521Arg"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_002477.2",
"gene_symbol": "MYL5",
"hgnc_id": 7586,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.*86C>G",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}