← 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: 15-36579958-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=36579958&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 36579958,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001321761.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIN1",
"gene_hgnc_id": 26929,
"hgvs_c": "c.98C>T",
"hgvs_p": "p.Pro33Leu",
"transcript": "NM_001321759.2",
"protein_id": "NP_001308688.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 281,
"cds_start": 98,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000566621.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321759.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIN1",
"gene_hgnc_id": 26929,
"hgvs_c": "c.98C>T",
"hgvs_p": "p.Pro33Leu",
"transcript": "ENST00000566621.6",
"protein_id": "ENSP00000455397.1",
"transcript_support_level": 5,
"aa_start": 33,
"aa_end": null,
"aa_length": 281,
"cds_start": 98,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001321759.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000566621.6"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIN1",
"gene_hgnc_id": 26929,
"hgvs_c": "c.98C>T",
"hgvs_p": "p.Pro33Leu",
"transcript": "ENST00000437989.6",
"protein_id": "ENSP00000401362.2",
"transcript_support_level": 1,
"aa_start": 33,
"aa_end": null,
"aa_length": 281,
"cds_start": 98,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000437989.6"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIN1",
"gene_hgnc_id": 26929,
"hgvs_c": "c.98C>T",
"hgvs_p": "p.Pro33Leu",
"transcript": "NM_001321761.2",
"protein_id": "NP_001308690.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 287,
"cds_start": 98,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321761.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIN1",
"gene_hgnc_id": 26929,
"hgvs_c": "c.98C>T",
"hgvs_p": "p.Pro33Leu",
"transcript": "ENST00000569302.6",
"protein_id": "ENSP00000456477.1",
"transcript_support_level": 5,
"aa_start": 33,
"aa_end": null,
"aa_length": 287,
"cds_start": 98,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000569302.6"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIN1",
"gene_hgnc_id": 26929,
"hgvs_c": "c.98C>T",
"hgvs_p": "p.Pro33Leu",
"transcript": "NM_001290233.2",
"protein_id": "NP_001277162.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 286,
"cds_start": 98,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290233.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIN1",
"gene_hgnc_id": 26929,
"hgvs_c": "c.98C>T",
"hgvs_p": "p.Pro33Leu",
"transcript": "ENST00000570265.6",
"protein_id": "ENSP00000493669.1",
"transcript_support_level": 2,
"aa_start": 33,
"aa_end": null,
"aa_length": 286,
"cds_start": 98,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000570265.6"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIN1",
"gene_hgnc_id": 26929,
"hgvs_c": "c.98C>T",
"hgvs_p": "p.Pro33Leu",
"transcript": "NM_001130010.3",
"protein_id": "NP_001123482.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 281,
"cds_start": 98,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130010.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIN1",
"gene_hgnc_id": 26929,
"hgvs_c": "c.98C>T",
"hgvs_p": "p.Pro33Leu",
"transcript": "ENST00000866625.1",
"protein_id": "ENSP00000536684.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 279,
"cds_start": 98,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866625.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIN1",
"gene_hgnc_id": 26929,
"hgvs_c": "c.98C>T",
"hgvs_p": "p.Pro33Leu",
"transcript": "ENST00000866627.1",
"protein_id": "ENSP00000536686.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 279,
"cds_start": 98,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866627.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIN1",
"gene_hgnc_id": 26929,
"hgvs_c": "c.98C>T",
"hgvs_p": "p.Pro33Leu",
"transcript": "NM_001321758.2",
"protein_id": "NP_001308687.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 244,
"cds_start": 98,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321758.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIN1",
"gene_hgnc_id": 26929,
"hgvs_c": "c.98C>T",
"hgvs_p": "p.Pro33Leu",
"transcript": "ENST00000866626.1",
"protein_id": "ENSP00000536685.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 215,
"cds_start": 98,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866626.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIN1",
"gene_hgnc_id": 26929,
"hgvs_c": "c.98C>T",
"hgvs_p": "p.Pro33Leu",
"transcript": "NM_001321760.2",
"protein_id": "NP_001308689.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 208,
"cds_start": 98,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321760.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIN1",
"gene_hgnc_id": 26929,
"hgvs_c": "c.98C>T",
"hgvs_p": "p.Pro33Leu",
"transcript": "ENST00000646533.1",
"protein_id": "ENSP00000494718.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 208,
"cds_start": 98,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646533.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIN1",
"gene_hgnc_id": 26929,
"hgvs_c": "c.98C>T",
"hgvs_p": "p.Pro33Leu",
"transcript": "ENST00000564586.5",
"protein_id": "ENSP00000457227.1",
"transcript_support_level": 4,
"aa_start": 33,
"aa_end": null,
"aa_length": 100,
"cds_start": 98,
"cds_end": null,
"cds_length": 305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000564586.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIN1",
"gene_hgnc_id": 26929,
"hgvs_c": "c.98C>T",
"hgvs_p": "p.Pro33Leu",
"transcript": "XM_017022676.2",
"protein_id": "XP_016878165.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 215,
"cds_start": 98,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022676.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIN1",
"gene_hgnc_id": 26929,
"hgvs_c": "c.98C>T",
"hgvs_p": "p.Pro33Leu",
"transcript": "XM_017022677.2",
"protein_id": "XP_016878166.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 215,
"cds_start": 98,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022677.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIN1",
"gene_hgnc_id": 26929,
"hgvs_c": "c.98C>T",
"hgvs_p": "p.Pro33Leu",
"transcript": "XM_047433171.1",
"protein_id": "XP_047289127.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 186,
"cds_start": 98,
"cds_end": null,
"cds_length": 561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433171.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIN1",
"gene_hgnc_id": 26929,
"hgvs_c": "c.98C>T",
"hgvs_p": "p.Pro33Leu",
"transcript": "XM_047433172.1",
"protein_id": "XP_047289128.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 184,
"cds_start": 98,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433172.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIN1",
"gene_hgnc_id": 26929,
"hgvs_c": "c.98C>T",
"hgvs_p": "p.Pro33Leu",
"transcript": "XM_047433173.1",
"protein_id": "XP_047289129.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 184,
"cds_start": 98,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433173.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIN1",
"gene_hgnc_id": 26929,
"hgvs_c": "c.98C>T",
"hgvs_p": "p.Pro33Leu",
"transcript": "XM_047433175.1",
"protein_id": "XP_047289131.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 160,
"cds_start": 98,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433175.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIN1",
"gene_hgnc_id": 26929,
"hgvs_c": "c.-151C>T",
"hgvs_p": null,
"transcript": "NM_001321756.2",
"protein_id": "NP_001308685.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 183,
"cds_start": null,
"cds_end": null,
"cds_length": 552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321756.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIN1",
"gene_hgnc_id": 26929,
"hgvs_c": "c.-306C>T",
"hgvs_p": null,
"transcript": "NM_001321757.2",
"protein_id": "NP_001308686.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 158,
"cds_start": null,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321757.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIN1",
"gene_hgnc_id": 26929,
"hgvs_c": "c.-252C>T",
"hgvs_p": null,
"transcript": "XM_047433174.1",
"protein_id": "XP_047289130.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 183,
"cds_start": null,
"cds_end": null,
"cds_length": 552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433174.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIN1",
"gene_hgnc_id": 26929,
"hgvs_c": "n.321C>T",
"hgvs_p": null,
"transcript": "ENST00000567573.5",
"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": "pseudogene",
"feature": "ENST00000567573.5"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIN1",
"gene_hgnc_id": 26929,
"hgvs_c": "n.98C>T",
"hgvs_p": null,
"transcript": "ENST00000642817.1",
"protein_id": "ENSP00000495947.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000642817.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIN1",
"gene_hgnc_id": 26929,
"hgvs_c": "n.98C>T",
"hgvs_p": null,
"transcript": "ENST00000643822.1",
"protein_id": "ENSP00000493719.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000643822.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIN1",
"gene_hgnc_id": 26929,
"hgvs_c": "n.272C>T",
"hgvs_p": null,
"transcript": "ENST00000643837.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000643837.1"
},
{
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIN1",
"gene_hgnc_id": 26929,
"hgvs_c": "n.98C>T",
"hgvs_p": null,
"transcript": "ENST00000646657.1",
"protein_id": "ENSP00000495542.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000646657.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIN1",
"gene_hgnc_id": 26929,
"hgvs_c": "n.333C>T",
"hgvs_p": null,
"transcript": "XR_007064491.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007064491.1"
},
{
"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": "CDIN1",
"gene_hgnc_id": 26929,
"hgvs_c": "n.333C>T",
"hgvs_p": null,
"transcript": "XR_007064492.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007064492.1"
}
],
"gene_symbol": "CDIN1",
"gene_hgnc_id": 26929,
"dbsnp": "rs188412916",
"frequency_reference_population": 0.00045021414,
"hom_count_reference_population": 0,
"allele_count_reference_population": 726,
"gnomad_exomes_af": 0.000467734,
"gnomad_genomes_af": 0.000282274,
"gnomad_exomes_ac": 683,
"gnomad_genomes_ac": 43,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.13563483953475952,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.216,
"revel_prediction": "Benign",
"alphamissense_score": 0.5121,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.2,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.31,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001321761.2",
"gene_symbol": "CDIN1",
"hgnc_id": 26929,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.98C>T",
"hgvs_p": "p.Pro33Leu"
}
],
"clinvar_disease": "Congenital dyserythropoietic anemia type type 1B,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not provided|Congenital dyserythropoietic anemia type type 1B",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}