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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: 6-32040140-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=32040140&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 32040140,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_000500.9",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "c.874G>C",
"hgvs_p": "p.Gly292Arg",
"transcript": "NM_000500.9",
"protein_id": "NP_000491.4",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 495,
"cds_start": 874,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 882,
"cdna_end": null,
"cdna_length": 2006,
"mane_select": "ENST00000644719.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000500.9"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "c.874G>C",
"hgvs_p": "p.Gly292Arg",
"transcript": "ENST00000644719.2",
"protein_id": "ENSP00000496625.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 495,
"cds_start": 874,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 882,
"cdna_end": null,
"cdna_length": 2006,
"mane_select": "NM_000500.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644719.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "c.910G>C",
"hgvs_p": "p.Gly304Arg",
"transcript": "ENST00000960600.1",
"protein_id": "ENSP00000630659.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 507,
"cds_start": 910,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 978,
"cdna_end": null,
"cdna_length": 2103,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960600.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "c.883G>C",
"hgvs_p": "p.Gly295Arg",
"transcript": "ENST00000960597.1",
"protein_id": "ENSP00000630656.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 498,
"cds_start": 883,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 1008,
"cdna_end": null,
"cdna_length": 2162,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960597.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "c.883G>C",
"hgvs_p": "p.Gly295Arg",
"transcript": "ENST00000960601.1",
"protein_id": "ENSP00000630660.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 496,
"cds_start": 883,
"cds_end": null,
"cds_length": 1491,
"cdna_start": 937,
"cdna_end": null,
"cdna_length": 2055,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960601.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "c.874G>C",
"hgvs_p": "p.Gly292Arg",
"transcript": "ENST00000960596.1",
"protein_id": "ENSP00000630655.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 495,
"cds_start": 874,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 925,
"cdna_end": null,
"cdna_length": 2089,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960596.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "c.871G>C",
"hgvs_p": "p.Gly291Arg",
"transcript": "ENST00000960599.1",
"protein_id": "ENSP00000630658.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 494,
"cds_start": 871,
"cds_end": null,
"cds_length": 1485,
"cdna_start": 922,
"cdna_end": null,
"cdna_length": 2076,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960599.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "c.874G>C",
"hgvs_p": "p.Gly292Arg",
"transcript": "ENST00000960595.1",
"protein_id": "ENSP00000630654.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 493,
"cds_start": 874,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 937,
"cdna_end": null,
"cdna_length": 2731,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960595.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "c.874G>C",
"hgvs_p": "p.Gly292Arg",
"transcript": "ENST00000960605.1",
"protein_id": "ENSP00000630664.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 492,
"cds_start": 874,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 882,
"cdna_end": null,
"cdna_length": 1996,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960605.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "c.817G>C",
"hgvs_p": "p.Gly273Arg",
"transcript": "ENST00000960598.1",
"protein_id": "ENSP00000630657.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 476,
"cds_start": 817,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 934,
"cdna_end": null,
"cdna_length": 2056,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960598.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "c.793G>C",
"hgvs_p": "p.Gly265Arg",
"transcript": "ENST00000960604.1",
"protein_id": "ENSP00000630663.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 468,
"cds_start": 793,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 801,
"cdna_end": null,
"cdna_length": 1925,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960604.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "c.787G>C",
"hgvs_p": "p.Gly263Arg",
"transcript": "ENST00000960603.1",
"protein_id": "ENSP00000630662.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 466,
"cds_start": 787,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 795,
"cdna_end": null,
"cdna_length": 1943,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960603.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "c.784G>C",
"hgvs_p": "p.Gly262Arg",
"transcript": "NM_001128590.4",
"protein_id": "NP_001122062.3",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 465,
"cds_start": 784,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 792,
"cdna_end": null,
"cdna_length": 1914,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001128590.4"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "c.784G>C",
"hgvs_p": "p.Gly262Arg",
"transcript": "ENST00000435122.3",
"protein_id": "ENSP00000415043.2",
"transcript_support_level": 2,
"aa_start": 262,
"aa_end": null,
"aa_length": 465,
"cds_start": 784,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 792,
"cdna_end": null,
"cdna_length": 1914,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000435122.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "c.772G>C",
"hgvs_p": "p.Gly258Arg",
"transcript": "ENST00000960607.1",
"protein_id": "ENSP00000630666.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 461,
"cds_start": 772,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 779,
"cdna_end": null,
"cdna_length": 1896,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960607.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "c.745G>C",
"hgvs_p": "p.Gly249Arg",
"transcript": "ENST00000960602.1",
"protein_id": "ENSP00000630661.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 452,
"cds_start": 745,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 797,
"cdna_end": null,
"cdna_length": 1919,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960602.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "c.697G>C",
"hgvs_p": "p.Gly233Arg",
"transcript": "ENST00000960606.1",
"protein_id": "ENSP00000630665.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 436,
"cds_start": 697,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 705,
"cdna_end": null,
"cdna_length": 1825,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960606.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "c.469G>C",
"hgvs_p": "p.Gly157Arg",
"transcript": "NM_001368143.2",
"protein_id": "NP_001355072.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 360,
"cds_start": 469,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 901,
"cdna_end": null,
"cdna_length": 2023,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368143.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "c.469G>C",
"hgvs_p": "p.Gly157Arg",
"transcript": "NM_001368144.2",
"protein_id": "NP_001355073.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 360,
"cds_start": 469,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 811,
"cdna_end": null,
"cdna_length": 1933,
"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": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "n.932G>C",
"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": 2137,
"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": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "n.990G>C",
"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": 2112,
"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": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "n.1043G>C",
"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": 1709,
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "n.919-266G>C",
"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": 1975,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000486063.5"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"hgvs_c": "n.*168G>C",
"hgvs_p": null,
"transcript": "ENST00000462278.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 564,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000462278.1"
}
],
"gene_symbol": "CYP21A2",
"gene_hgnc_id": 2600,
"dbsnp": "rs201552310",
"frequency_reference_population": 0.000006820741,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.0000068468,
"gnomad_genomes_af": 0.00000657065,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9849849939346313,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.828,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.952,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.33,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.988,
"phylop100way_prediction": "Uncertain_significance",
"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": 15,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PM2,PM5,PP2,PP3_Strong,PP5_Moderate",
"acmg_by_gene": [
{
"score": 15,
"benign_score": 0,
"pathogenic_score": 15,
"criteria": [
"PS3",
"PM2",
"PM5",
"PP2",
"PP3_Strong",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "NM_000500.9",
"gene_symbol": "CYP21A2",
"hgnc_id": 2600,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.874G>C",
"hgvs_p": "p.Gly292Arg"
}
],
"clinvar_disease": "Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency,not provided",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "not provided|Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}