← 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: 3-15676987-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=15676987&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 15676987,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001349277.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD28",
"gene_hgnc_id": 29024,
"hgvs_c": "c.2860G>A",
"hgvs_p": "p.Ala954Thr",
"transcript": "NM_001349278.2",
"protein_id": "NP_001336207.1",
"transcript_support_level": null,
"aa_start": 954,
"aa_end": null,
"aa_length": 1083,
"cds_start": 2860,
"cds_end": null,
"cds_length": 3252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000683139.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349278.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD28",
"gene_hgnc_id": 29024,
"hgvs_c": "c.2860G>A",
"hgvs_p": "p.Ala954Thr",
"transcript": "ENST00000683139.1",
"protein_id": "ENSP00000508086.1",
"transcript_support_level": null,
"aa_start": 954,
"aa_end": null,
"aa_length": 1083,
"cds_start": 2860,
"cds_end": null,
"cds_length": 3252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001349278.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683139.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD28",
"gene_hgnc_id": 29024,
"hgvs_c": "c.2770G>A",
"hgvs_p": "p.Ala924Thr",
"transcript": "ENST00000399451.6",
"protein_id": "ENSP00000382379.2",
"transcript_support_level": 1,
"aa_start": 924,
"aa_end": null,
"aa_length": 1053,
"cds_start": 2770,
"cds_end": null,
"cds_length": 3162,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399451.6"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD28",
"gene_hgnc_id": 29024,
"hgvs_c": "c.2869G>A",
"hgvs_p": "p.Ala957Thr",
"transcript": "NM_001349277.2",
"protein_id": "NP_001336206.1",
"transcript_support_level": null,
"aa_start": 957,
"aa_end": null,
"aa_length": 1086,
"cds_start": 2869,
"cds_end": null,
"cds_length": 3261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349277.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD28",
"gene_hgnc_id": 29024,
"hgvs_c": "c.2770G>A",
"hgvs_p": "p.Ala924Thr",
"transcript": "NM_015199.4",
"protein_id": "NP_056014.2",
"transcript_support_level": null,
"aa_start": 924,
"aa_end": null,
"aa_length": 1053,
"cds_start": 2770,
"cds_end": null,
"cds_length": 3162,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015199.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD28",
"gene_hgnc_id": 29024,
"hgvs_c": "c.2761G>A",
"hgvs_p": "p.Ala921Thr",
"transcript": "NM_001349279.2",
"protein_id": "NP_001336208.1",
"transcript_support_level": null,
"aa_start": 921,
"aa_end": null,
"aa_length": 1050,
"cds_start": 2761,
"cds_end": null,
"cds_length": 3153,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349279.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD28",
"gene_hgnc_id": 29024,
"hgvs_c": "c.2602G>A",
"hgvs_p": "p.Ala868Thr",
"transcript": "NM_001349280.1",
"protein_id": "NP_001336209.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 997,
"cds_start": 2602,
"cds_end": null,
"cds_length": 2994,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349280.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD28",
"gene_hgnc_id": 29024,
"hgvs_c": "c.2602G>A",
"hgvs_p": "p.Ala868Thr",
"transcript": "NM_001349281.2",
"protein_id": "NP_001336210.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 997,
"cds_start": 2602,
"cds_end": null,
"cds_length": 2994,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349281.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD28",
"gene_hgnc_id": 29024,
"hgvs_c": "c.2602G>A",
"hgvs_p": "p.Ala868Thr",
"transcript": "NM_001349282.2",
"protein_id": "NP_001336211.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 997,
"cds_start": 2602,
"cds_end": null,
"cds_length": 2994,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349282.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD28",
"gene_hgnc_id": 29024,
"hgvs_c": "c.2308G>A",
"hgvs_p": "p.Ala770Thr",
"transcript": "NM_001195098.1",
"protein_id": "NP_001182027.1",
"transcript_support_level": null,
"aa_start": 770,
"aa_end": null,
"aa_length": 899,
"cds_start": 2308,
"cds_end": null,
"cds_length": 2700,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001195098.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD28",
"gene_hgnc_id": 29024,
"hgvs_c": "c.2308G>A",
"hgvs_p": "p.Ala770Thr",
"transcript": "NM_001195099.2",
"protein_id": "NP_001182028.1",
"transcript_support_level": null,
"aa_start": 770,
"aa_end": null,
"aa_length": 899,
"cds_start": 2308,
"cds_end": null,
"cds_length": 2700,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001195099.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD28",
"gene_hgnc_id": 29024,
"hgvs_c": "c.2308G>A",
"hgvs_p": "p.Ala770Thr",
"transcript": "NM_001349283.2",
"protein_id": "NP_001336212.1",
"transcript_support_level": null,
"aa_start": 770,
"aa_end": null,
"aa_length": 899,
"cds_start": 2308,
"cds_end": null,
"cds_length": 2700,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349283.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD28",
"gene_hgnc_id": 29024,
"hgvs_c": "c.2308G>A",
"hgvs_p": "p.Ala770Thr",
"transcript": "ENST00000624145.3",
"protein_id": "ENSP00000485421.1",
"transcript_support_level": 2,
"aa_start": 770,
"aa_end": null,
"aa_length": 899,
"cds_start": 2308,
"cds_end": null,
"cds_length": 2700,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000624145.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD28",
"gene_hgnc_id": 29024,
"hgvs_c": "c.2812G>A",
"hgvs_p": "p.Ala938Thr",
"transcript": "XM_024453418.2",
"protein_id": "XP_024309186.1",
"transcript_support_level": null,
"aa_start": 938,
"aa_end": null,
"aa_length": 1067,
"cds_start": 2812,
"cds_end": null,
"cds_length": 3204,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453418.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD28",
"gene_hgnc_id": 29024,
"hgvs_c": "c.2803G>A",
"hgvs_p": "p.Ala935Thr",
"transcript": "XM_024453419.2",
"protein_id": "XP_024309187.1",
"transcript_support_level": null,
"aa_start": 935,
"aa_end": null,
"aa_length": 1064,
"cds_start": 2803,
"cds_end": null,
"cds_length": 3195,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453419.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD28",
"gene_hgnc_id": 29024,
"hgvs_c": "c.2869G>A",
"hgvs_p": "p.Ala957Thr",
"transcript": "XM_047447800.1",
"protein_id": "XP_047303756.1",
"transcript_support_level": null,
"aa_start": 957,
"aa_end": null,
"aa_length": 1027,
"cds_start": 2869,
"cds_end": null,
"cds_length": 3084,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447800.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD28",
"gene_hgnc_id": 29024,
"hgvs_c": "c.2686G>A",
"hgvs_p": "p.Ala896Thr",
"transcript": "XM_011533542.4",
"protein_id": "XP_011531844.1",
"transcript_support_level": null,
"aa_start": 896,
"aa_end": null,
"aa_length": 1025,
"cds_start": 2686,
"cds_end": null,
"cds_length": 3078,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533542.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD28",
"gene_hgnc_id": 29024,
"hgvs_c": "c.2860G>A",
"hgvs_p": "p.Ala954Thr",
"transcript": "XM_047447801.1",
"protein_id": "XP_047303757.1",
"transcript_support_level": null,
"aa_start": 954,
"aa_end": null,
"aa_length": 1024,
"cds_start": 2860,
"cds_end": null,
"cds_length": 3075,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447801.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD28",
"gene_hgnc_id": 29024,
"hgvs_c": "c.2668G>A",
"hgvs_p": "p.Ala890Thr",
"transcript": "XM_047447802.1",
"protein_id": "XP_047303758.1",
"transcript_support_level": null,
"aa_start": 890,
"aa_end": null,
"aa_length": 1019,
"cds_start": 2668,
"cds_end": null,
"cds_length": 3060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447802.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD28",
"gene_hgnc_id": 29024,
"hgvs_c": "c.2659G>A",
"hgvs_p": "p.Ala887Thr",
"transcript": "XM_047447803.1",
"protein_id": "XP_047303759.1",
"transcript_support_level": null,
"aa_start": 887,
"aa_end": null,
"aa_length": 1016,
"cds_start": 2659,
"cds_end": null,
"cds_length": 3051,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447803.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD28",
"gene_hgnc_id": 29024,
"hgvs_c": "c.2602G>A",
"hgvs_p": "p.Ala868Thr",
"transcript": "XM_011533547.4",
"protein_id": "XP_011531849.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 997,
"cds_start": 2602,
"cds_end": null,
"cds_length": 2994,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533547.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD28",
"gene_hgnc_id": 29024,
"hgvs_c": "c.2602G>A",
"hgvs_p": "p.Ala868Thr",
"transcript": "XM_024453422.2",
"protein_id": "XP_024309190.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 997,
"cds_start": 2602,
"cds_end": null,
"cds_length": 2994,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453422.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD28",
"gene_hgnc_id": 29024,
"hgvs_c": "c.2602G>A",
"hgvs_p": "p.Ala868Thr",
"transcript": "XM_024453424.2",
"protein_id": "XP_024309192.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 997,
"cds_start": 2602,
"cds_end": null,
"cds_length": 2994,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453424.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD28",
"gene_hgnc_id": 29024,
"hgvs_c": "c.2602G>A",
"hgvs_p": "p.Ala868Thr",
"transcript": "XM_047447804.1",
"protein_id": "XP_047303760.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 997,
"cds_start": 2602,
"cds_end": null,
"cds_length": 2994,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447804.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD28",
"gene_hgnc_id": 29024,
"hgvs_c": "c.2602G>A",
"hgvs_p": "p.Ala868Thr",
"transcript": "XM_047447805.1",
"protein_id": "XP_047303761.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 997,
"cds_start": 2602,
"cds_end": null,
"cds_length": 2994,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447805.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD28",
"gene_hgnc_id": 29024,
"hgvs_c": "c.2770G>A",
"hgvs_p": "p.Ala924Thr",
"transcript": "XM_047447806.1",
"protein_id": "XP_047303762.1",
"transcript_support_level": null,
"aa_start": 924,
"aa_end": null,
"aa_length": 994,
"cds_start": 2770,
"cds_end": null,
"cds_length": 2985,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447806.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD28",
"gene_hgnc_id": 29024,
"hgvs_c": "c.2584G>A",
"hgvs_p": "p.Ala862Thr",
"transcript": "XM_047447807.1",
"protein_id": "XP_047303763.1",
"transcript_support_level": null,
"aa_start": 862,
"aa_end": null,
"aa_length": 991,
"cds_start": 2584,
"cds_end": null,
"cds_length": 2976,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447807.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD28",
"gene_hgnc_id": 29024,
"hgvs_c": "c.2761G>A",
"hgvs_p": "p.Ala921Thr",
"transcript": "XM_047447808.1",
"protein_id": "XP_047303764.1",
"transcript_support_level": null,
"aa_start": 921,
"aa_end": null,
"aa_length": 991,
"cds_start": 2761,
"cds_end": null,
"cds_length": 2976,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447808.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD28",
"gene_hgnc_id": 29024,
"hgvs_c": "c.2569G>A",
"hgvs_p": "p.Ala857Thr",
"transcript": "XM_047447809.1",
"protein_id": "XP_047303765.1",
"transcript_support_level": null,
"aa_start": 857,
"aa_end": null,
"aa_length": 986,
"cds_start": 2569,
"cds_end": null,
"cds_length": 2961,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447809.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD28",
"gene_hgnc_id": 29024,
"hgvs_c": "c.2560G>A",
"hgvs_p": "p.Ala854Thr",
"transcript": "XM_047447810.1",
"protein_id": "XP_047303766.1",
"transcript_support_level": null,
"aa_start": 854,
"aa_end": null,
"aa_length": 983,
"cds_start": 2560,
"cds_end": null,
"cds_length": 2952,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447810.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD28",
"gene_hgnc_id": 29024,
"hgvs_c": "c.2869G>A",
"hgvs_p": "p.Ala957Thr",
"transcript": "XM_047447811.1",
"protein_id": "XP_047303767.1",
"transcript_support_level": null,
"aa_start": 957,
"aa_end": null,
"aa_length": 961,
"cds_start": 2869,
"cds_end": null,
"cds_length": 2886,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447811.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD28",
"gene_hgnc_id": 29024,
"hgvs_c": "c.2308G>A",
"hgvs_p": "p.Ala770Thr",
"transcript": "XM_047447813.1",
"protein_id": "XP_047303769.1",
"transcript_support_level": null,
"aa_start": 770,
"aa_end": null,
"aa_length": 899,
"cds_start": 2308,
"cds_end": null,
"cds_length": 2700,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447813.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.1015+32056C>T",
"hgvs_p": null,
"transcript": "NM_001370752.1",
"protein_id": "NP_001357681.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 364,
"cds_start": null,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370752.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.1015+32056C>T",
"hgvs_p": null,
"transcript": "NM_001407379.1",
"protein_id": "NP_001394308.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 364,
"cds_start": null,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407379.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.1015+32056C>T",
"hgvs_p": null,
"transcript": "ENST00000672427.1",
"protein_id": "ENSP00000500131.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 364,
"cds_start": null,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672427.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.1015+32056C>T",
"hgvs_p": null,
"transcript": "ENST00000672892.2",
"protein_id": "ENSP00000499944.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 344,
"cds_start": null,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672892.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.400-11324C>T",
"hgvs_p": null,
"transcript": "NM_001407400.1",
"protein_id": "NP_001394329.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 144,
"cds_start": null,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407400.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.400-33412C>T",
"hgvs_p": null,
"transcript": "NM_001370753.1",
"protein_id": "NP_001357682.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 141,
"cds_start": null,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370753.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.400-33412C>T",
"hgvs_p": null,
"transcript": "ENST00000672760.1",
"protein_id": "ENSP00000500530.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 141,
"cds_start": null,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672760.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "BTD",
"gene_hgnc_id": 1122,
"hgvs_c": "c.400-33073C>T",
"hgvs_p": null,
"transcript": "ENST00000672141.1",
"protein_id": "ENSP00000500210.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 137,
"cds_start": null,
"cds_end": null,
"cds_length": 414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672141.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD28",
"gene_hgnc_id": 29024,
"hgvs_c": "n.2770G>A",
"hgvs_p": null,
"transcript": "ENST00000412318.5",
"protein_id": "ENSP00000397341.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000412318.5"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD28",
"gene_hgnc_id": 29024,
"hgvs_c": "n.197G>A",
"hgvs_p": null,
"transcript": "ENST00000479043.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000479043.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD28",
"gene_hgnc_id": 29024,
"hgvs_c": "n.2957G>A",
"hgvs_p": null,
"transcript": "ENST00000497037.5",
"protein_id": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000497037.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD28",
"gene_hgnc_id": 29024,
"hgvs_c": "n.2912G>A",
"hgvs_p": null,
"transcript": "NR_146111.1",
"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": "NR_146111.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD28",
"gene_hgnc_id": 29024,
"hgvs_c": "n.4318G>A",
"hgvs_p": null,
"transcript": "NR_146112.2",
"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_146112.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD28",
"gene_hgnc_id": 29024,
"hgvs_c": "n.4327G>A",
"hgvs_p": null,
"transcript": "XR_007095652.1",
"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_007095652.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD28",
"gene_hgnc_id": 29024,
"hgvs_c": "n.3181G>A",
"hgvs_p": null,
"transcript": "XR_007095653.1",
"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_007095653.1"
}
],
"gene_symbol": "ANKRD28",
"gene_hgnc_id": 29024,
"dbsnp": "rs149481554",
"frequency_reference_population": 0.00017737974,
"hom_count_reference_population": 2,
"allele_count_reference_population": 286,
"gnomad_exomes_af": 0.000110906,
"gnomad_genomes_af": 0.000817597,
"gnomad_exomes_ac": 162,
"gnomad_genomes_ac": 124,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.01258811354637146,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.049,
"revel_prediction": "Benign",
"alphamissense_score": 0.0679,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.007,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001349277.2",
"gene_symbol": "ANKRD28",
"hgnc_id": 29024,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2869G>A",
"hgvs_p": "p.Ala957Thr"
},
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2_Supporting"
],
"verdict": "Likely_benign",
"transcript": "NM_001370752.1",
"gene_symbol": "BTD",
"hgnc_id": 1122,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1015+32056C>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
}