← 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: 21-43053920-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=43053920&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 43053920,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000398165.8",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.1616T>C",
"hgvs_p": "p.Leu539Ser",
"transcript": "NM_000071.3",
"protein_id": "NP_000062.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 551,
"cds_start": 1616,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 1766,
"cdna_end": null,
"cdna_length": 2495,
"mane_select": "ENST00000398165.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.1616T>C",
"hgvs_p": "p.Leu539Ser",
"transcript": "ENST00000398165.8",
"protein_id": "ENSP00000381231.4",
"transcript_support_level": 1,
"aa_start": 539,
"aa_end": null,
"aa_length": 551,
"cds_start": 1616,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 1766,
"cdna_end": null,
"cdna_length": 2495,
"mane_select": "NM_000071.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.1616T>C",
"hgvs_p": "p.Leu539Ser",
"transcript": "ENST00000352178.9",
"protein_id": "ENSP00000344460.5",
"transcript_support_level": 1,
"aa_start": 539,
"aa_end": null,
"aa_length": 551,
"cds_start": 1616,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 1854,
"cdna_end": null,
"cdna_length": 2583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.1616T>C",
"hgvs_p": "p.Leu539Ser",
"transcript": "ENST00000359624.7",
"protein_id": "ENSP00000352643.3",
"transcript_support_level": 1,
"aa_start": 539,
"aa_end": null,
"aa_length": 551,
"cds_start": 1616,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 1838,
"cdna_end": null,
"cdna_length": 2353,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.1616T>C",
"hgvs_p": "p.Leu539Ser",
"transcript": "ENST00000398158.5",
"protein_id": "ENSP00000381225.1",
"transcript_support_level": 1,
"aa_start": 539,
"aa_end": null,
"aa_length": 551,
"cds_start": 1616,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 1724,
"cdna_end": null,
"cdna_length": 2453,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "n.1927T>C",
"hgvs_p": null,
"transcript": "ENST00000461686.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2656,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.1616T>C",
"hgvs_p": "p.Leu539Ser",
"transcript": "NM_001178008.3",
"protein_id": "NP_001171479.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 551,
"cds_start": 1616,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 1853,
"cdna_end": null,
"cdna_length": 2582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.1616T>C",
"hgvs_p": "p.Leu539Ser",
"transcript": "NM_001178009.3",
"protein_id": "NP_001171480.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 551,
"cds_start": 1616,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 1853,
"cdna_end": null,
"cdna_length": 2368,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.1616T>C",
"hgvs_p": "p.Leu539Ser",
"transcript": "NM_001320298.2",
"protein_id": "NP_001307227.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 551,
"cds_start": 1616,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 1874,
"cdna_end": null,
"cdna_length": 2603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.1301T>C",
"hgvs_p": "p.Leu434Ser",
"transcript": "NM_001321072.1",
"protein_id": "NP_001308001.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 446,
"cds_start": 1301,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 1927,
"cdna_end": null,
"cdna_length": 2656,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.407T>C",
"hgvs_p": "p.Leu136Ser",
"transcript": "ENST00000451248.5",
"protein_id": "ENSP00000402823.1",
"transcript_support_level": 5,
"aa_start": 136,
"aa_end": null,
"aa_length": 148,
"cds_start": 407,
"cds_end": null,
"cds_length": 447,
"cdna_start": 408,
"cdna_end": null,
"cdna_length": 573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.1709T>C",
"hgvs_p": "p.Leu570Ser",
"transcript": "XM_011529774.3",
"protein_id": "XP_011528076.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 582,
"cds_start": 1709,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 2029,
"cdna_end": null,
"cdna_length": 2544,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.1709T>C",
"hgvs_p": "p.Leu570Ser",
"transcript": "XM_047441017.1",
"protein_id": "XP_047296973.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 582,
"cds_start": 1709,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 2029,
"cdna_end": null,
"cdna_length": 2758,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.1667T>C",
"hgvs_p": "p.Leu556Ser",
"transcript": "XM_047441018.1",
"protein_id": "XP_047296974.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 568,
"cds_start": 1667,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 1987,
"cdna_end": null,
"cdna_length": 2716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.1667T>C",
"hgvs_p": "p.Leu556Ser",
"transcript": "XM_047441019.1",
"protein_id": "XP_047296975.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 568,
"cds_start": 1667,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 1987,
"cdna_end": null,
"cdna_length": 2502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.1658T>C",
"hgvs_p": "p.Leu553Ser",
"transcript": "XM_011529777.2",
"protein_id": "XP_011528079.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 565,
"cds_start": 1658,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 1808,
"cdna_end": null,
"cdna_length": 2537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.1658T>C",
"hgvs_p": "p.Leu553Ser",
"transcript": "XM_047441020.1",
"protein_id": "XP_047296976.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 565,
"cds_start": 1658,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 1808,
"cdna_end": null,
"cdna_length": 2323,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.1658T>C",
"hgvs_p": "p.Leu553Ser",
"transcript": "XM_047441021.1",
"protein_id": "XP_047296977.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 565,
"cds_start": 1658,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 1895,
"cdna_end": null,
"cdna_length": 2624,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.1658T>C",
"hgvs_p": "p.Leu553Ser",
"transcript": "XM_047441022.1",
"protein_id": "XP_047296978.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 565,
"cds_start": 1658,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 3075,
"cdna_end": null,
"cdna_length": 3804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.1658T>C",
"hgvs_p": "p.Leu553Ser",
"transcript": "XM_047441023.1",
"protein_id": "XP_047296979.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 565,
"cds_start": 1658,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 2330,
"cdna_end": null,
"cdna_length": 3059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.1658T>C",
"hgvs_p": "p.Leu553Ser",
"transcript": "XM_047441024.1",
"protein_id": "XP_047296980.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 565,
"cds_start": 1658,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 1916,
"cdna_end": null,
"cdna_length": 2645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.1658T>C",
"hgvs_p": "p.Leu553Ser",
"transcript": "XM_047441025.1",
"protein_id": "XP_047296981.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 565,
"cds_start": 1658,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 2351,
"cdna_end": null,
"cdna_length": 3080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.1616T>C",
"hgvs_p": "p.Leu539Ser",
"transcript": "XM_017028491.3",
"protein_id": "XP_016883980.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 551,
"cds_start": 1616,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 1766,
"cdna_end": null,
"cdna_length": 2281,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.1616T>C",
"hgvs_p": "p.Leu539Ser",
"transcript": "XM_047441026.1",
"protein_id": "XP_047296982.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 551,
"cds_start": 1616,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 3033,
"cdna_end": null,
"cdna_length": 3762,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.1616T>C",
"hgvs_p": "p.Leu539Ser",
"transcript": "XM_047441027.1",
"protein_id": "XP_047296983.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 551,
"cds_start": 1616,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 2288,
"cdna_end": null,
"cdna_length": 3017,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.1616T>C",
"hgvs_p": "p.Leu539Ser",
"transcript": "XM_047441028.1",
"protein_id": "XP_047296984.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 551,
"cds_start": 1616,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 2201,
"cdna_end": null,
"cdna_length": 2930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.1616T>C",
"hgvs_p": "p.Leu539Ser",
"transcript": "XM_047441029.1",
"protein_id": "XP_047296985.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 551,
"cds_start": 1616,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 3033,
"cdna_end": null,
"cdna_length": 3548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.1616T>C",
"hgvs_p": "p.Leu539Ser",
"transcript": "XM_047441030.1",
"protein_id": "XP_047296986.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 551,
"cds_start": 1616,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 1874,
"cdna_end": null,
"cdna_length": 2389,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.1616T>C",
"hgvs_p": "p.Leu539Ser",
"transcript": "XM_047441031.1",
"protein_id": "XP_047296987.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 551,
"cds_start": 1616,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 2288,
"cdna_end": null,
"cdna_length": 2803,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.1451T>C",
"hgvs_p": "p.Leu484Ser",
"transcript": "XM_047441032.1",
"protein_id": "XP_047296988.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 496,
"cds_start": 1451,
"cds_end": null,
"cds_length": 1491,
"cdna_start": 3194,
"cdna_end": null,
"cdna_length": 3923,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.1343T>C",
"hgvs_p": "p.Leu448Ser",
"transcript": "XM_011529783.2",
"protein_id": "XP_011528085.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 460,
"cds_start": 1343,
"cds_end": null,
"cds_length": 1383,
"cdna_start": 1941,
"cdna_end": null,
"cdna_length": 2670,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "c.1301T>C",
"hgvs_p": "p.Leu434Ser",
"transcript": "XM_047441033.1",
"protein_id": "XP_047296989.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 446,
"cds_start": 1301,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 1899,
"cdna_end": null,
"cdna_length": 2414,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"hgvs_c": "n.907T>C",
"hgvs_p": null,
"transcript": "ENST00000462349.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CBS",
"gene_hgnc_id": 1550,
"dbsnp": "rs121964968",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.97878098487854,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.976,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9601,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.58,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.668,
"phylop100way_prediction": "Pathogenic",
"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": 13,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PP2,PP3_Strong,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 13,
"benign_score": 0,
"pathogenic_score": 13,
"criteria": [
"PP2",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000398165.8",
"gene_symbol": "CBS",
"hgnc_id": 1550,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1616T>C",
"hgvs_p": "p.Leu539Ser"
}
],
"clinvar_disease": " CBS-RELATED, THROMBOTIC, pyridoxine-responsive,Classic homocystinuria,HYPERHOMOCYSTEINEMIA,Homocystinuria",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LP:2",
"phenotype_combined": "Homocystinuria, pyridoxine-responsive|Classic homocystinuria|Homocystinuria|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}