← 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: 5-55959737-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=55959737&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 55959737,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_002184.4",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "IL6ST",
"gene_hgnc_id": 6021,
"hgvs_c": "c.973+665C>T",
"hgvs_p": null,
"transcript": "NM_002184.4",
"protein_id": "NP_002175.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 918,
"cds_start": null,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000381298.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002184.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "IL6ST",
"gene_hgnc_id": 6021,
"hgvs_c": "c.973+665C>T",
"hgvs_p": null,
"transcript": "ENST00000381298.7",
"protein_id": "ENSP00000370698.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 918,
"cds_start": null,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002184.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381298.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "IL6ST",
"gene_hgnc_id": 6021,
"hgvs_c": "c.973+665C>T",
"hgvs_p": null,
"transcript": "ENST00000381294.8",
"protein_id": "ENSP00000370694.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 857,
"cds_start": null,
"cds_end": null,
"cds_length": 2574,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381294.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "IL6ST",
"gene_hgnc_id": 6021,
"hgvs_c": "c.973+665C>T",
"hgvs_p": null,
"transcript": "ENST00000522633.2",
"protein_id": "ENSP00000435399.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 329,
"cds_start": null,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522633.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "IL6ST",
"gene_hgnc_id": 6021,
"hgvs_c": "c.475+665C>T",
"hgvs_p": null,
"transcript": "ENST00000381293.6",
"protein_id": "ENSP00000370693.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 203,
"cds_start": null,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381293.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IL6ST",
"gene_hgnc_id": 6021,
"hgvs_c": "c.64+16478C>T",
"hgvs_p": null,
"transcript": "ENST00000381286.7",
"protein_id": "ENSP00000370686.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 66,
"cds_start": null,
"cds_end": null,
"cds_length": 201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381286.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "IL6ST",
"gene_hgnc_id": 6021,
"hgvs_c": "c.973+665C>T",
"hgvs_p": null,
"transcript": "ENST00000868548.1",
"protein_id": "ENSP00000538607.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 947,
"cds_start": null,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868548.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "IL6ST",
"gene_hgnc_id": 6021,
"hgvs_c": "c.973+665C>T",
"hgvs_p": null,
"transcript": "ENST00000868545.1",
"protein_id": "ENSP00000538604.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 927,
"cds_start": null,
"cds_end": null,
"cds_length": 2784,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868545.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "IL6ST",
"gene_hgnc_id": 6021,
"hgvs_c": "c.973+665C>T",
"hgvs_p": null,
"transcript": "ENST00000868547.1",
"protein_id": "ENSP00000538606.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 925,
"cds_start": null,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868547.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "IL6ST",
"gene_hgnc_id": 6021,
"hgvs_c": "c.973+665C>T",
"hgvs_p": null,
"transcript": "ENST00000502326.7",
"protein_id": "ENSP00000462158.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 918,
"cds_start": null,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000502326.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "IL6ST",
"gene_hgnc_id": 6021,
"hgvs_c": "c.973+665C>T",
"hgvs_p": null,
"transcript": "ENST00000698645.1",
"protein_id": "ENSP00000513858.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 918,
"cds_start": null,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698645.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "IL6ST",
"gene_hgnc_id": 6021,
"hgvs_c": "c.973+665C>T",
"hgvs_p": null,
"transcript": "NM_001364275.2",
"protein_id": "NP_001351204.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 884,
"cds_start": null,
"cds_end": null,
"cds_length": 2655,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364275.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "IL6ST",
"gene_hgnc_id": 6021,
"hgvs_c": "c.973+665C>T",
"hgvs_p": null,
"transcript": "ENST00000698646.1",
"protein_id": "ENSP00000513859.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 884,
"cds_start": null,
"cds_end": null,
"cds_length": 2655,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698646.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "IL6ST",
"gene_hgnc_id": 6021,
"hgvs_c": "c.973+665C>T",
"hgvs_p": null,
"transcript": "ENST00000971039.1",
"protein_id": "ENSP00000641098.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 871,
"cds_start": null,
"cds_end": null,
"cds_length": 2616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971039.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "IL6ST",
"gene_hgnc_id": 6021,
"hgvs_c": "c.973+665C>T",
"hgvs_p": null,
"transcript": "ENST00000698639.1",
"protein_id": "ENSP00000513852.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 869,
"cds_start": null,
"cds_end": null,
"cds_length": 2610,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698639.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "IL6ST",
"gene_hgnc_id": 6021,
"hgvs_c": "c.973+665C>T",
"hgvs_p": null,
"transcript": "NM_001190981.2",
"protein_id": "NP_001177910.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 857,
"cds_start": null,
"cds_end": null,
"cds_length": 2574,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001190981.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "IL6ST",
"gene_hgnc_id": 6021,
"hgvs_c": "c.763+665C>T",
"hgvs_p": null,
"transcript": "NM_001364276.2",
"protein_id": "NP_001351205.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 848,
"cds_start": null,
"cds_end": null,
"cds_length": 2547,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364276.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "IL6ST",
"gene_hgnc_id": 6021,
"hgvs_c": "c.763+665C>T",
"hgvs_p": null,
"transcript": "ENST00000698644.1",
"protein_id": "ENSP00000513857.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 848,
"cds_start": null,
"cds_end": null,
"cds_length": 2547,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698644.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "IL6ST",
"gene_hgnc_id": 6021,
"hgvs_c": "c.973+665C>T",
"hgvs_p": null,
"transcript": "ENST00000868546.1",
"protein_id": "ENSP00000538605.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 820,
"cds_start": null,
"cds_end": null,
"cds_length": 2463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868546.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "IL6ST",
"gene_hgnc_id": 6021,
"hgvs_c": "c.973+665C>T",
"hgvs_p": null,
"transcript": "ENST00000971041.1",
"protein_id": "ENSP00000641100.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 810,
"cds_start": null,
"cds_end": null,
"cds_length": 2433,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971041.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "IL6ST",
"gene_hgnc_id": 6021,
"hgvs_c": "c.61-66C>T",
"hgvs_p": null,
"transcript": "NM_001364277.2",
"protein_id": "NP_001351206.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 629,
"cds_start": null,
"cds_end": null,
"cds_length": 1890,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364277.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "IL6ST",
"gene_hgnc_id": 6021,
"hgvs_c": "c.973+665C>T",
"hgvs_p": null,
"transcript": "ENST00000971040.1",
"protein_id": "ENSP00000641099.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 629,
"cds_start": null,
"cds_end": null,
"cds_length": 1890,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971040.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "IL6ST",
"gene_hgnc_id": 6021,
"hgvs_c": "c.70+665C>T",
"hgvs_p": null,
"transcript": "NM_001364278.2",
"protein_id": "NP_001351207.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 617,
"cds_start": null,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364278.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "IL6ST",
"gene_hgnc_id": 6021,
"hgvs_c": "c.70+665C>T",
"hgvs_p": null,
"transcript": "ENST00000698638.1",
"protein_id": "ENSP00000513851.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 617,
"cds_start": null,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698638.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "IL6ST",
"gene_hgnc_id": 6021,
"hgvs_c": "c.60+665C>T",
"hgvs_p": null,
"transcript": "NM_001364279.2",
"protein_id": "NP_001351208.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 586,
"cds_start": null,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364279.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "IL6ST",
"gene_hgnc_id": 6021,
"hgvs_c": "c.973+665C>T",
"hgvs_p": null,
"transcript": "NM_175767.3",
"protein_id": "NP_786943.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 329,
"cds_start": null,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_175767.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "IL6ST",
"gene_hgnc_id": 6021,
"hgvs_c": "n.974-66C>T",
"hgvs_p": null,
"transcript": "ENST00000503773.6",
"protein_id": "ENSP00000426224.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000503773.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "IL6ST",
"gene_hgnc_id": 6021,
"hgvs_c": "n.1282+665C>T",
"hgvs_p": null,
"transcript": "ENST00000506241.2",
"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": "ENST00000506241.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "IL6ST",
"gene_hgnc_id": 6021,
"hgvs_c": "n.*378+665C>T",
"hgvs_p": null,
"transcript": "ENST00000577363.2",
"protein_id": "ENSP00000513861.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000577363.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "IL6ST",
"gene_hgnc_id": 6021,
"hgvs_c": "n.973+665C>T",
"hgvs_p": null,
"transcript": "ENST00000651614.1",
"protein_id": "ENSP00000498224.1",
"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": "ENST00000651614.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "IL6ST",
"gene_hgnc_id": 6021,
"hgvs_c": "n.*378+665C>T",
"hgvs_p": null,
"transcript": "ENST00000698640.1",
"protein_id": "ENSP00000513853.1",
"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": "ENST00000698640.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "IL6ST",
"gene_hgnc_id": 6021,
"hgvs_c": "n.*378+665C>T",
"hgvs_p": null,
"transcript": "ENST00000698641.1",
"protein_id": "ENSP00000513854.1",
"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": "ENST00000698641.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "IL6ST",
"gene_hgnc_id": 6021,
"hgvs_c": "n.*379-66C>T",
"hgvs_p": null,
"transcript": "ENST00000698642.1",
"protein_id": "ENSP00000513855.1",
"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": "ENST00000698642.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "IL6ST",
"gene_hgnc_id": 6021,
"hgvs_c": "n.*378+665C>T",
"hgvs_p": null,
"transcript": "ENST00000698643.1",
"protein_id": "ENSP00000513856.1",
"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": "ENST00000698643.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "IL6ST",
"gene_hgnc_id": 6021,
"hgvs_c": "n.*592+665C>T",
"hgvs_p": null,
"transcript": "ENST00000698647.1",
"protein_id": "ENSP00000513860.1",
"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": "ENST00000698647.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "IL6ST",
"gene_hgnc_id": 6021,
"hgvs_c": "n.*378+665C>T",
"hgvs_p": null,
"transcript": "ENST00000698648.1",
"protein_id": "ENSP00000513862.1",
"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": "ENST00000698648.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "IL6ST",
"gene_hgnc_id": 6021,
"hgvs_c": "n.1257-66C>T",
"hgvs_p": null,
"transcript": "NR_120480.2",
"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": "NR_120480.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "IL6ST",
"gene_hgnc_id": 6021,
"hgvs_c": "n.1256+665C>T",
"hgvs_p": null,
"transcript": "NR_157112.2",
"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": "NR_157112.2"
}
],
"gene_symbol": "IL6ST",
"gene_hgnc_id": 6021,
"dbsnp": "rs1373998",
"frequency_reference_population": 0.15412177,
"hom_count_reference_population": 13757,
"allele_count_reference_population": 115878,
"gnomad_exomes_af": 0.132142,
"gnomad_genomes_af": 0.240792,
"gnomad_exomes_ac": 79253,
"gnomad_genomes_ac": 36625,
"gnomad_exomes_homalt": 6841,
"gnomad_genomes_homalt": 6916,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9100000262260437,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.91,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.381,
"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": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BA1",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_002184.4",
"gene_symbol": "IL6ST",
"hgnc_id": 6021,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.973+665C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}