← 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: 6-32041085-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=32041085&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 32041085,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000500.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "c.1439G>A",
"hgvs_p": "p.Arg480Gln",
"transcript": "NM_000500.9",
"protein_id": "NP_000491.4",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 495,
"cds_start": 1439,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000644719.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000500.9"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "c.1439G>A",
"hgvs_p": "p.Arg480Gln",
"transcript": "ENST00000644719.2",
"protein_id": "ENSP00000496625.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 495,
"cds_start": 1439,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000500.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644719.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "c.1475G>A",
"hgvs_p": "p.Arg492Gln",
"transcript": "ENST00000960600.1",
"protein_id": "ENSP00000630659.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 507,
"cds_start": 1475,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960600.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "c.1448G>A",
"hgvs_p": "p.Arg483Gln",
"transcript": "ENST00000960597.1",
"protein_id": "ENSP00000630656.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 498,
"cds_start": 1448,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960597.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "c.1442G>A",
"hgvs_p": "p.Arg481Gln",
"transcript": "ENST00000960601.1",
"protein_id": "ENSP00000630660.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 496,
"cds_start": 1442,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960601.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "c.1439G>A",
"hgvs_p": "p.Arg480Gln",
"transcript": "ENST00000960596.1",
"protein_id": "ENSP00000630655.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 495,
"cds_start": 1439,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960596.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "c.1436G>A",
"hgvs_p": "p.Arg479Gln",
"transcript": "ENST00000960599.1",
"protein_id": "ENSP00000630658.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 494,
"cds_start": 1436,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960599.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "c.1433G>A",
"hgvs_p": "p.Arg478Gln",
"transcript": "ENST00000960595.1",
"protein_id": "ENSP00000630654.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 493,
"cds_start": 1433,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960595.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "c.1430G>A",
"hgvs_p": "p.Arg477Gln",
"transcript": "ENST00000960605.1",
"protein_id": "ENSP00000630664.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 492,
"cds_start": 1430,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960605.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "c.1382G>A",
"hgvs_p": "p.Arg461Gln",
"transcript": "ENST00000960598.1",
"protein_id": "ENSP00000630657.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 476,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960598.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "c.1358G>A",
"hgvs_p": "p.Arg453Gln",
"transcript": "ENST00000960604.1",
"protein_id": "ENSP00000630663.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 468,
"cds_start": 1358,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960604.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "c.1352G>A",
"hgvs_p": "p.Arg451Gln",
"transcript": "ENST00000960603.1",
"protein_id": "ENSP00000630662.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 466,
"cds_start": 1352,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960603.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "c.1349G>A",
"hgvs_p": "p.Arg450Gln",
"transcript": "NM_001128590.4",
"protein_id": "NP_001122062.3",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 465,
"cds_start": 1349,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001128590.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "c.1349G>A",
"hgvs_p": "p.Arg450Gln",
"transcript": "ENST00000435122.3",
"protein_id": "ENSP00000415043.2",
"transcript_support_level": 2,
"aa_start": 450,
"aa_end": null,
"aa_length": 465,
"cds_start": 1349,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000435122.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "c.1337G>A",
"hgvs_p": "p.Arg446Gln",
"transcript": "ENST00000960607.1",
"protein_id": "ENSP00000630666.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 461,
"cds_start": 1337,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960607.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "c.1310G>A",
"hgvs_p": "p.Arg437Gln",
"transcript": "ENST00000960602.1",
"protein_id": "ENSP00000630661.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 452,
"cds_start": 1310,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960602.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "c.1262G>A",
"hgvs_p": "p.Arg421Gln",
"transcript": "ENST00000960606.1",
"protein_id": "ENSP00000630665.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 436,
"cds_start": 1262,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960606.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "c.1034G>A",
"hgvs_p": "p.Arg345Gln",
"transcript": "NM_001368143.2",
"protein_id": "NP_001355072.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 360,
"cds_start": 1034,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368143.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "c.1034G>A",
"hgvs_p": "p.Arg345Gln",
"transcript": "NM_001368144.2",
"protein_id": "NP_001355073.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 360,
"cds_start": 1034,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368144.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "n.1580G>A",
"hgvs_p": null,
"transcript": "ENST00000479074.5",
"protein_id": null,
"transcript_support_level": 3,
"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": "retained_intron",
"feature": "ENST00000479074.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "n.1555G>A",
"hgvs_p": null,
"transcript": "ENST00000479730.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000479730.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "n.1608G>A",
"hgvs_p": null,
"transcript": "ENST00000483041.5",
"protein_id": null,
"transcript_support_level": 3,
"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": "retained_intron",
"feature": "ENST00000483041.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "n.1418G>A",
"hgvs_p": null,
"transcript": "ENST00000486063.5",
"protein_id": null,
"transcript_support_level": 3,
"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": "retained_intron",
"feature": "ENST00000486063.5"
},
{
"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": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNXB",
"gene_hgnc_id": 11976,
"hgvs_c": "c.*264C>T",
"hgvs_p": null,
"transcript": "NM_001365276.2",
"protein_id": "NP_001352205.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 4244,
"cds_start": null,
"cds_end": null,
"cds_length": 12735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000644971.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365276.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNXB",
"gene_hgnc_id": 11976,
"hgvs_c": "c.*264C>T",
"hgvs_p": null,
"transcript": "ENST00000644971.2",
"protein_id": "ENSP00000496448.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 4244,
"cds_start": null,
"cds_end": null,
"cds_length": 12735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001365276.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644971.2"
},
{
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNXB",
"gene_hgnc_id": 11976,
"hgvs_c": "c.*264C>T",
"hgvs_p": null,
"transcript": "ENST00000451343.4",
"protein_id": "ENSP00000407685.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 673,
"cds_start": null,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451343.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNXB",
"gene_hgnc_id": 11976,
"hgvs_c": "n.*70C>T",
"hgvs_p": null,
"transcript": "ENST00000490077.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "retained_intron",
"feature": "ENST00000490077.5"
},
{
"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": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNXB",
"gene_hgnc_id": 11976,
"hgvs_c": "c.*264C>T",
"hgvs_p": null,
"transcript": "NM_001428335.1",
"protein_id": "NP_001415264.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 4491,
"cds_start": null,
"cds_end": null,
"cds_length": 13476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001428335.1"
},
{
"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": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNXB",
"gene_hgnc_id": 11976,
"hgvs_c": "c.*264C>T",
"hgvs_p": null,
"transcript": "ENST00000647633.1",
"protein_id": "ENSP00000497649.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 4491,
"cds_start": null,
"cds_end": null,
"cds_length": 13476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647633.1"
},
{
"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": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNXB",
"gene_hgnc_id": 11976,
"hgvs_c": "c.*264C>T",
"hgvs_p": null,
"transcript": "ENST00000375244.7",
"protein_id": "ENSP00000364393.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 4244,
"cds_start": null,
"cds_end": null,
"cds_length": 12735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375244.7"
},
{
"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": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNXB",
"gene_hgnc_id": 11976,
"hgvs_c": "c.*264C>T",
"hgvs_p": null,
"transcript": "NM_019105.8",
"protein_id": "NP_061978.6",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 4242,
"cds_start": null,
"cds_end": null,
"cds_length": 12729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_019105.8"
},
{
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNXB",
"gene_hgnc_id": 11976,
"hgvs_c": "c.*264C>T",
"hgvs_p": null,
"transcript": "NM_032470.4",
"protein_id": "NP_115859.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 673,
"cds_start": null,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032470.4"
}
],
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"dbsnp": "rs184649564",
"frequency_reference_population": 0.000013991208,
"hom_count_reference_population": 0,
"allele_count_reference_population": 22,
"gnomad_exomes_af": 0.0000133738,
"gnomad_genomes_af": 0.0000197717,
"gnomad_exomes_ac": 19,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.22014880180358887,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.151,
"revel_prediction": "Benign",
"alphamissense_score": 0.0798,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.139,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PM2,PP2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 2,
"pathogenic_score": 5,
"criteria": [
"PM1",
"PM2",
"PP2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_000500.9",
"gene_symbol": "CYP21A2",
"hgnc_id": 2600,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1439G>A",
"hgvs_p": "p.Arg480Gln"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001428335.1",
"gene_symbol": "TNXB",
"hgnc_id": 11976,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.*264C>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}