← 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: 1-64845531-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=64845531&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 64845531,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000342505.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "c.2097C>T",
"hgvs_p": "p.Ala699Ala",
"transcript": "NM_002227.4",
"protein_id": "NP_002218.2",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 1154,
"cds_start": 2097,
"cds_end": null,
"cds_length": 3465,
"cdna_start": 2391,
"cdna_end": null,
"cdna_length": 5092,
"mane_select": "ENST00000342505.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "c.2097C>T",
"hgvs_p": "p.Ala699Ala",
"transcript": "ENST00000342505.5",
"protein_id": "ENSP00000343204.4",
"transcript_support_level": 5,
"aa_start": 699,
"aa_end": null,
"aa_length": 1154,
"cds_start": 2097,
"cds_end": null,
"cds_length": 3465,
"cdna_start": 2391,
"cdna_end": null,
"cdna_length": 5092,
"mane_select": "NM_002227.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "c.2097C>T",
"hgvs_p": "p.Ala699Ala",
"transcript": "NM_001320923.2",
"protein_id": "NP_001307852.1",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 1154,
"cds_start": 2097,
"cds_end": null,
"cds_length": 3465,
"cdna_start": 2314,
"cdna_end": null,
"cdna_length": 5015,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "c.2097C>T",
"hgvs_p": "p.Ala699Ala",
"transcript": "NM_001321852.2",
"protein_id": "NP_001308781.1",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 1154,
"cds_start": 2097,
"cds_end": null,
"cds_length": 3465,
"cdna_start": 2317,
"cdna_end": null,
"cdna_length": 5018,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "c.2097C>T",
"hgvs_p": "p.Ala699Ala",
"transcript": "NM_001321853.2",
"protein_id": "NP_001308782.1",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 1154,
"cds_start": 2097,
"cds_end": null,
"cds_length": 3465,
"cdna_start": 2576,
"cdna_end": null,
"cdna_length": 5277,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "c.2097C>T",
"hgvs_p": "p.Ala699Ala",
"transcript": "NM_001321854.2",
"protein_id": "NP_001308783.1",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 1154,
"cds_start": 2097,
"cds_end": null,
"cds_length": 3465,
"cdna_start": 2492,
"cdna_end": null,
"cdna_length": 5193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "c.2097C>T",
"hgvs_p": "p.Ala699Ala",
"transcript": "NM_001321855.2",
"protein_id": "NP_001308784.1",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 1154,
"cds_start": 2097,
"cds_end": null,
"cds_length": 3465,
"cdna_start": 2475,
"cdna_end": null,
"cdna_length": 5176,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "c.2097C>T",
"hgvs_p": "p.Ala699Ala",
"transcript": "NM_001321856.2",
"protein_id": "NP_001308785.1",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 1154,
"cds_start": 2097,
"cds_end": null,
"cds_length": 3465,
"cdna_start": 2230,
"cdna_end": null,
"cdna_length": 4931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "c.2097C>T",
"hgvs_p": "p.Ala699Ala",
"transcript": "ENST00000671929.2",
"protein_id": "ENSP00000500485.1",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 1154,
"cds_start": 2097,
"cds_end": null,
"cds_length": 3465,
"cdna_start": 2494,
"cdna_end": null,
"cdna_length": 5190,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "c.2097C>T",
"hgvs_p": "p.Ala699Ala",
"transcript": "ENST00000671954.2",
"protein_id": "ENSP00000500841.1",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 1154,
"cds_start": 2097,
"cds_end": null,
"cds_length": 3465,
"cdna_start": 2405,
"cdna_end": null,
"cdna_length": 5101,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "c.2097C>T",
"hgvs_p": "p.Ala699Ala",
"transcript": "ENST00000672179.2",
"protein_id": "ENSP00000500296.1",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 1154,
"cds_start": 2097,
"cds_end": null,
"cds_length": 3465,
"cdna_start": 2213,
"cdna_end": null,
"cdna_length": 4909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "c.2097C>T",
"hgvs_p": "p.Ala699Ala",
"transcript": "ENST00000672247.2",
"protein_id": "ENSP00000499884.1",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 1154,
"cds_start": 2097,
"cds_end": null,
"cds_length": 3465,
"cdna_start": 2473,
"cdna_end": null,
"cdna_length": 5169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "c.2097C>T",
"hgvs_p": "p.Ala699Ala",
"transcript": "ENST00000672434.2",
"protein_id": "ENSP00000499900.1",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 1154,
"cds_start": 2097,
"cds_end": null,
"cds_length": 3465,
"cdna_start": 2562,
"cdna_end": null,
"cdna_length": 5258,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "c.2097C>T",
"hgvs_p": "p.Ala699Ala",
"transcript": "ENST00000672751.2",
"protein_id": "ENSP00000500745.2",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 1154,
"cds_start": 2097,
"cds_end": null,
"cds_length": 3465,
"cdna_start": 2325,
"cdna_end": null,
"cdna_length": 5021,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "c.2097C>T",
"hgvs_p": "p.Ala699Ala",
"transcript": "ENST00000699262.1",
"protein_id": "ENSP00000514243.1",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 1154,
"cds_start": 2097,
"cds_end": null,
"cds_length": 3465,
"cdna_start": 2314,
"cdna_end": null,
"cdna_length": 4169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "c.2097C>T",
"hgvs_p": "p.Ala699Ala",
"transcript": "ENST00000699312.1",
"protein_id": "ENSP00000514291.1",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 1154,
"cds_start": 2097,
"cds_end": null,
"cds_length": 3465,
"cdna_start": 2478,
"cdna_end": null,
"cdna_length": 5174,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "c.2094C>T",
"hgvs_p": "p.Ala698Ala",
"transcript": "NM_001321857.2",
"protein_id": "NP_001308786.1",
"transcript_support_level": null,
"aa_start": 698,
"aa_end": null,
"aa_length": 1153,
"cds_start": 2094,
"cds_end": null,
"cds_length": 3462,
"cdna_start": 2388,
"cdna_end": null,
"cdna_length": 5089,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "c.2094C>T",
"hgvs_p": "p.Ala698Ala",
"transcript": "ENST00000699259.1",
"protein_id": "ENSP00000514240.1",
"transcript_support_level": null,
"aa_start": 698,
"aa_end": null,
"aa_length": 1153,
"cds_start": 2094,
"cds_end": null,
"cds_length": 3462,
"cdna_start": 2475,
"cdna_end": null,
"cdna_length": 5171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "c.2094C>T",
"hgvs_p": "p.Ala698Ala",
"transcript": "ENST00000699260.1",
"protein_id": "ENSP00000514241.1",
"transcript_support_level": null,
"aa_start": 698,
"aa_end": null,
"aa_length": 1153,
"cds_start": 2094,
"cds_end": null,
"cds_length": 3462,
"cdna_start": 2408,
"cdna_end": null,
"cdna_length": 5104,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "c.2097C>T",
"hgvs_p": "p.Ala699Ala",
"transcript": "ENST00000673046.1",
"protein_id": "ENSP00000500878.1",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 1152,
"cds_start": 2097,
"cds_end": null,
"cds_length": 3459,
"cdna_start": 2212,
"cdna_end": null,
"cdna_length": 4893,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "c.2091C>T",
"hgvs_p": "p.Ala697Ala",
"transcript": "ENST00000699310.1",
"protein_id": "ENSP00000514289.1",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 1152,
"cds_start": 2091,
"cds_end": null,
"cds_length": 3459,
"cdna_start": 2387,
"cdna_end": null,
"cdna_length": 5083,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "c.2097C>T",
"hgvs_p": "p.Ala699Ala",
"transcript": "ENST00000672574.2",
"protein_id": "ENSP00000500714.2",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 1119,
"cds_start": 2097,
"cds_end": null,
"cds_length": 3360,
"cdna_start": 2411,
"cdna_end": null,
"cdna_length": 5001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "c.1968C>T",
"hgvs_p": "p.Ala656Ala",
"transcript": "ENST00000673246.2",
"protein_id": "ENSP00000499942.2",
"transcript_support_level": null,
"aa_start": 656,
"aa_end": null,
"aa_length": 1111,
"cds_start": 1968,
"cds_end": null,
"cds_length": 3336,
"cdna_start": 2264,
"cdna_end": null,
"cdna_length": 4960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "c.1965C>T",
"hgvs_p": "p.Ala655Ala",
"transcript": "ENST00000673254.1",
"protein_id": "ENSP00000500476.1",
"transcript_support_level": null,
"aa_start": 655,
"aa_end": null,
"aa_length": 1110,
"cds_start": 1965,
"cds_end": null,
"cds_length": 3333,
"cdna_start": 2262,
"cdna_end": null,
"cdna_length": 4930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "c.2097C>T",
"hgvs_p": "p.Ala699Ala",
"transcript": "XM_047419674.1",
"protein_id": "XP_047275630.1",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 1154,
"cds_start": 2097,
"cds_end": null,
"cds_length": 3465,
"cdna_start": 2218,
"cdna_end": null,
"cdna_length": 4919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "c.2097C>T",
"hgvs_p": "p.Ala699Ala",
"transcript": "XM_047419675.1",
"protein_id": "XP_047275631.1",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 1154,
"cds_start": 2097,
"cds_end": null,
"cds_length": 3465,
"cdna_start": 13544,
"cdna_end": null,
"cdna_length": 16245,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "c.2094C>T",
"hgvs_p": "p.Ala698Ala",
"transcript": "XM_047419676.1",
"protein_id": "XP_047275632.1",
"transcript_support_level": null,
"aa_start": 698,
"aa_end": null,
"aa_length": 1153,
"cds_start": 2094,
"cds_end": null,
"cds_length": 3462,
"cdna_start": 2314,
"cdna_end": null,
"cdna_length": 5015,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "c.2094C>T",
"hgvs_p": "p.Ala698Ala",
"transcript": "XM_047419677.1",
"protein_id": "XP_047275633.1",
"transcript_support_level": null,
"aa_start": 698,
"aa_end": null,
"aa_length": 1153,
"cds_start": 2094,
"cds_end": null,
"cds_length": 3462,
"cdna_start": 2255,
"cdna_end": null,
"cdna_length": 4956,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "n.437C>T",
"hgvs_p": null,
"transcript": "ENST00000465376.7",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3144,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "n.371C>T",
"hgvs_p": null,
"transcript": "ENST00000471473.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "n.*2005C>T",
"hgvs_p": null,
"transcript": "ENST00000671746.2",
"protein_id": "ENSP00000500065.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5259,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "n.*4657C>T",
"hgvs_p": null,
"transcript": "ENST00000673220.1",
"protein_id": "ENSP00000500422.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7780,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "n.3396C>T",
"hgvs_p": null,
"transcript": "ENST00000673314.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6091,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "n.3556C>T",
"hgvs_p": null,
"transcript": "ENST00000673502.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "n.2094C>T",
"hgvs_p": null,
"transcript": "ENST00000699261.1",
"protein_id": "ENSP00000514242.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4947,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "n.*757C>T",
"hgvs_p": null,
"transcript": "ENST00000699311.1",
"protein_id": "ENSP00000514290.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5097,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "n.*757C>T",
"hgvs_p": null,
"transcript": "ENST00000699313.1",
"protein_id": "ENSP00000514292.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "n.*2005C>T",
"hgvs_p": null,
"transcript": "ENST00000671746.2",
"protein_id": "ENSP00000500065.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5259,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "n.*4657C>T",
"hgvs_p": null,
"transcript": "ENST00000673220.1",
"protein_id": "ENSP00000500422.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7780,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "n.*757C>T",
"hgvs_p": null,
"transcript": "ENST00000699311.1",
"protein_id": "ENSP00000514290.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5097,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"hgvs_c": "n.*757C>T",
"hgvs_p": null,
"transcript": "ENST00000699313.1",
"protein_id": "ENSP00000514292.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "JAK1",
"gene_hgnc_id": 6190,
"dbsnp": "rs3737139",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.44999998807907104,
"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": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.899,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000342505.5",
"gene_symbol": "JAK1",
"hgnc_id": 6190,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2097C>T",
"hgvs_p": "p.Ala699Ala"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}