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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: 17-45830102-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=45830102&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 45830102,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001145146.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRHR1",
"gene_hgnc_id": 2357,
"hgvs_c": "c.443G>A",
"hgvs_p": "p.Arg148Gln",
"transcript": "NM_004382.5",
"protein_id": "NP_004373.2",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 415,
"cds_start": 443,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 668,
"cdna_end": null,
"cdna_length": 2537,
"mane_select": "ENST00000314537.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004382.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRHR1",
"gene_hgnc_id": 2357,
"hgvs_c": "c.443G>A",
"hgvs_p": "p.Arg148Gln",
"transcript": "ENST00000314537.10",
"protein_id": "ENSP00000326060.6",
"transcript_support_level": 1,
"aa_start": 148,
"aa_end": null,
"aa_length": 415,
"cds_start": 443,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 668,
"cdna_end": null,
"cdna_length": 2537,
"mane_select": "NM_004382.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000314537.10"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRHR1",
"gene_hgnc_id": 2357,
"hgvs_c": "c.530G>A",
"hgvs_p": "p.Arg177Gln",
"transcript": "ENST00000398285.7",
"protein_id": "ENSP00000381333.3",
"transcript_support_level": 1,
"aa_start": 177,
"aa_end": null,
"aa_length": 444,
"cds_start": 530,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 530,
"cdna_end": null,
"cdna_length": 2399,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398285.7"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRHR1",
"gene_hgnc_id": 2357,
"hgvs_c": "c.443G>A",
"hgvs_p": "p.Arg148Gln",
"transcript": "ENST00000577353.5",
"protein_id": "ENSP00000462016.1",
"transcript_support_level": 1,
"aa_start": 148,
"aa_end": null,
"aa_length": 401,
"cds_start": 443,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 443,
"cdna_end": null,
"cdna_length": 1206,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000577353.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRHR1",
"gene_hgnc_id": 2357,
"hgvs_c": "c.323G>A",
"hgvs_p": "p.Arg108Gln",
"transcript": "ENST00000352855.9",
"protein_id": "ENSP00000344068.5",
"transcript_support_level": 1,
"aa_start": 108,
"aa_end": null,
"aa_length": 375,
"cds_start": 323,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 341,
"cdna_end": null,
"cdna_length": 1146,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000352855.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LINC02210-CRHR1",
"gene_hgnc_id": 51483,
"hgvs_c": "c.-83G>A",
"hgvs_p": null,
"transcript": "ENST00000634540.1",
"protein_id": "ENSP00000488912.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 240,
"cds_start": null,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2695,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000634540.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRHR1",
"gene_hgnc_id": 2357,
"hgvs_c": "c.-83G>A",
"hgvs_p": null,
"transcript": "ENST00000580876.6",
"protein_id": "ENSP00000516345.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 211,
"cds_start": null,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3502,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000580876.6"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRHR1",
"gene_hgnc_id": 2357,
"hgvs_c": "n.456G>A",
"hgvs_p": null,
"transcript": "ENST00000580955.6",
"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": 2494,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000580955.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRHR1",
"gene_hgnc_id": 2357,
"hgvs_c": "n.237G>A",
"hgvs_p": null,
"transcript": "ENST00000619154.4",
"protein_id": "ENSP00000484545.1",
"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": 2370,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000619154.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRHR1",
"gene_hgnc_id": 2357,
"hgvs_c": "c.530G>A",
"hgvs_p": "p.Arg177Gln",
"transcript": "NM_001145146.2",
"protein_id": "NP_001138618.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 444,
"cds_start": 530,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 755,
"cdna_end": null,
"cdna_length": 2624,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145146.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRHR1",
"gene_hgnc_id": 2357,
"hgvs_c": "c.443G>A",
"hgvs_p": "p.Arg148Gln",
"transcript": "NM_001145148.2",
"protein_id": "NP_001138620.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 401,
"cds_start": 443,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 668,
"cdna_end": null,
"cdna_length": 2495,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145148.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRHR1",
"gene_hgnc_id": 2357,
"hgvs_c": "c.323G>A",
"hgvs_p": "p.Arg108Gln",
"transcript": "NM_001145147.2",
"protein_id": "NP_001138619.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 375,
"cds_start": 323,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 548,
"cdna_end": null,
"cdna_length": 2417,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145147.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRHR1",
"gene_hgnc_id": 2357,
"hgvs_c": "c.149G>A",
"hgvs_p": "p.Arg50Gln",
"transcript": "ENST00000941062.1",
"protein_id": "ENSP00000611121.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 317,
"cds_start": 149,
"cds_end": null,
"cds_length": 954,
"cdna_start": 355,
"cdna_end": null,
"cdna_length": 2220,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941062.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRHR1",
"gene_hgnc_id": 2357,
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Arg47Gln",
"transcript": "NM_001303020.2",
"protein_id": "NP_001289949.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 314,
"cds_start": 140,
"cds_end": null,
"cds_length": 945,
"cdna_start": 582,
"cdna_end": null,
"cdna_length": 2451,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303020.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LINC02210-CRHR1",
"gene_hgnc_id": 51483,
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Arg47Gln",
"transcript": "NM_001303016.1",
"protein_id": "NP_001289945.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 285,
"cds_start": 140,
"cds_end": null,
"cds_length": 858,
"cdna_start": 789,
"cdna_end": null,
"cdna_length": 2522,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303016.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LINC02210-CRHR1",
"gene_hgnc_id": 51483,
"hgvs_c": "c.-83G>A",
"hgvs_p": null,
"transcript": "NM_001256299.3",
"protein_id": "NP_001243228.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 240,
"cds_start": null,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2695,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256299.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRHR1",
"gene_hgnc_id": 2357,
"hgvs_c": "c.-83G>A",
"hgvs_p": null,
"transcript": "NM_001303018.2",
"protein_id": "NP_001289947.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 240,
"cds_start": null,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2331,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303018.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRHR1",
"gene_hgnc_id": 2357,
"hgvs_c": "n.357G>A",
"hgvs_p": null,
"transcript": "ENST00000339069.9",
"protein_id": "ENSP00000340522.7",
"transcript_support_level": 2,
"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": 2490,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000339069.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRHR1",
"gene_hgnc_id": 2357,
"hgvs_c": "n.299G>A",
"hgvs_p": null,
"transcript": "ENST00000582766.5",
"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": 828,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000582766.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRHR1",
"gene_hgnc_id": 2357,
"hgvs_c": "n.227G>A",
"hgvs_p": null,
"transcript": "ENST00000583888.1",
"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": 777,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000583888.1"
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRHR1",
"gene_hgnc_id": 2357,
"hgvs_c": "n.718G>A",
"hgvs_p": null,
"transcript": "ENST00000705340.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2554,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000705340.1"
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRHR1",
"gene_hgnc_id": 2357,
"hgvs_c": "n.*120G>A",
"hgvs_p": null,
"transcript": "ENST00000705341.1",
"protein_id": "ENSP00000516114.1",
"transcript_support_level": null,
"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": 2732,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000705341.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRHR1",
"gene_hgnc_id": 2357,
"hgvs_c": "n.341G>A",
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"transcript": "ENST00000705342.1",
"protein_id": null,
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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": 2546,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000705342.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRHR1",
"gene_hgnc_id": 2357,
"hgvs_c": "n.683G>A",
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"transcript": "ENST00000705343.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2550,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000705343.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRHR1",
"gene_hgnc_id": 2357,
"hgvs_c": "n.45G>A",
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"transcript": "ENST00000705344.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2083,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000705344.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRHR1",
"gene_hgnc_id": 2357,
"hgvs_c": "n.*120G>A",
"hgvs_p": null,
"transcript": "ENST00000705341.1",
"protein_id": "ENSP00000516114.1",
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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": 2732,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000705341.1"
},
{
"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": 13,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CRHR1",
"gene_hgnc_id": 2357,
"hgvs_c": "n.435-77G>A",
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"transcript": "ENST00000347197.9",
"protein_id": "ENSP00000239167.7",
"transcript_support_level": 2,
"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": 2462,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000347197.9"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MAPT-AS1",
"gene_hgnc_id": 43738,
"hgvs_c": "n.604-741C>T",
"hgvs_p": null,
"transcript": "ENST00000634876.2",
"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": 3633,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000634876.2"
}
],
"gene_symbol": "CRHR1",
"gene_hgnc_id": 2357,
"dbsnp": "rs377037950",
"frequency_reference_population": 0.000007435193,
"hom_count_reference_population": 0,
"allele_count_reference_population": 12,
"gnomad_exomes_af": 0.00000752486,
"gnomad_genomes_af": 0.00000657358,
"gnomad_exomes_ac": 11,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7720856666564941,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.459,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.439,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.13,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.992,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.02,
"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": "Likely_benign",
"acmg_criteria": "PP3,BS2",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 4,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001145146.2",
"gene_symbol": "CRHR1",
"hgnc_id": 2357,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.530G>A",
"hgvs_p": "p.Arg177Gln"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001303016.1",
"gene_symbol": "LINC02210-CRHR1",
"hgnc_id": 51483,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Arg47Gln"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000634876.2",
"gene_symbol": "MAPT-AS1",
"hgnc_id": 43738,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.604-741C>T",
"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
}