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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 3-15677540-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=15677540&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 15677540,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001349277.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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": "c.2730T>G",
"hgvs_p": "p.Ser910Arg",
"transcript": "NM_001349278.2",
"protein_id": "NP_001336207.1",
"transcript_support_level": null,
"aa_start": 910,
"aa_end": null,
"aa_length": 1083,
"cds_start": 2730,
"cds_end": null,
"cds_length": 3252,
"cdna_start": 4188,
"cdna_end": null,
"cdna_length": 7744,
"mane_select": "ENST00000683139.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349278.2"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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": "c.2730T>G",
"hgvs_p": "p.Ser910Arg",
"transcript": "ENST00000683139.1",
"protein_id": "ENSP00000508086.1",
"transcript_support_level": null,
"aa_start": 910,
"aa_end": null,
"aa_length": 1083,
"cds_start": 2730,
"cds_end": null,
"cds_length": 3252,
"cdna_start": 4188,
"cdna_end": null,
"cdna_length": 7744,
"mane_select": "NM_001349278.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683139.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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": "c.2640T>G",
"hgvs_p": "p.Ser880Arg",
"transcript": "ENST00000399451.6",
"protein_id": "ENSP00000382379.2",
"transcript_support_level": 1,
"aa_start": 880,
"aa_end": null,
"aa_length": 1053,
"cds_start": 2640,
"cds_end": null,
"cds_length": 3162,
"cdna_start": 3008,
"cdna_end": null,
"cdna_length": 6564,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399451.6"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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": "c.2739T>G",
"hgvs_p": "p.Ser913Arg",
"transcript": "NM_001349277.2",
"protein_id": "NP_001336206.1",
"transcript_support_level": null,
"aa_start": 913,
"aa_end": null,
"aa_length": 1086,
"cds_start": 2739,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 4197,
"cdna_end": null,
"cdna_length": 7753,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349277.2"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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": "c.2640T>G",
"hgvs_p": "p.Ser880Arg",
"transcript": "NM_015199.4",
"protein_id": "NP_056014.2",
"transcript_support_level": null,
"aa_start": 880,
"aa_end": null,
"aa_length": 1053,
"cds_start": 2640,
"cds_end": null,
"cds_length": 3162,
"cdna_start": 3051,
"cdna_end": null,
"cdna_length": 6607,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015199.4"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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": "c.2631T>G",
"hgvs_p": "p.Ser877Arg",
"transcript": "NM_001349279.2",
"protein_id": "NP_001336208.1",
"transcript_support_level": null,
"aa_start": 877,
"aa_end": null,
"aa_length": 1050,
"cds_start": 2631,
"cds_end": null,
"cds_length": 3153,
"cdna_start": 3121,
"cdna_end": null,
"cdna_length": 6677,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349279.2"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD28",
"gene_hgnc_id": 29024,
"hgvs_c": "c.2472T>G",
"hgvs_p": "p.Ser824Arg",
"transcript": "NM_001349280.1",
"protein_id": "NP_001336209.1",
"transcript_support_level": null,
"aa_start": 824,
"aa_end": null,
"aa_length": 997,
"cds_start": 2472,
"cds_end": null,
"cds_length": 2994,
"cdna_start": 2756,
"cdna_end": null,
"cdna_length": 6312,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349280.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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": "c.2472T>G",
"hgvs_p": "p.Ser824Arg",
"transcript": "NM_001349281.2",
"protein_id": "NP_001336210.1",
"transcript_support_level": null,
"aa_start": 824,
"aa_end": null,
"aa_length": 997,
"cds_start": 2472,
"cds_end": null,
"cds_length": 2994,
"cdna_start": 3515,
"cdna_end": null,
"cdna_length": 7071,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349281.2"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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": "c.2472T>G",
"hgvs_p": "p.Ser824Arg",
"transcript": "NM_001349282.2",
"protein_id": "NP_001336211.1",
"transcript_support_level": null,
"aa_start": 824,
"aa_end": null,
"aa_length": 997,
"cds_start": 2472,
"cds_end": null,
"cds_length": 2994,
"cdna_start": 3524,
"cdna_end": null,
"cdna_length": 7080,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349282.2"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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": "c.2178T>G",
"hgvs_p": "p.Ser726Arg",
"transcript": "NM_001195098.1",
"protein_id": "NP_001182027.1",
"transcript_support_level": null,
"aa_start": 726,
"aa_end": null,
"aa_length": 899,
"cds_start": 2178,
"cds_end": null,
"cds_length": 2700,
"cdna_start": 2827,
"cdna_end": null,
"cdna_length": 6383,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001195098.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD28",
"gene_hgnc_id": 29024,
"hgvs_c": "c.2178T>G",
"hgvs_p": "p.Ser726Arg",
"transcript": "NM_001195099.2",
"protein_id": "NP_001182028.1",
"transcript_support_level": null,
"aa_start": 726,
"aa_end": null,
"aa_length": 899,
"cds_start": 2178,
"cds_end": null,
"cds_length": 2700,
"cdna_start": 2514,
"cdna_end": null,
"cdna_length": 6070,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001195099.2"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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": "c.2178T>G",
"hgvs_p": "p.Ser726Arg",
"transcript": "NM_001349283.2",
"protein_id": "NP_001336212.1",
"transcript_support_level": null,
"aa_start": 726,
"aa_end": null,
"aa_length": 899,
"cds_start": 2178,
"cds_end": null,
"cds_length": 2700,
"cdna_start": 3544,
"cdna_end": null,
"cdna_length": 7100,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349283.2"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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": "c.2178T>G",
"hgvs_p": "p.Ser726Arg",
"transcript": "ENST00000624145.3",
"protein_id": "ENSP00000485421.1",
"transcript_support_level": 2,
"aa_start": 726,
"aa_end": null,
"aa_length": 899,
"cds_start": 2178,
"cds_end": null,
"cds_length": 2700,
"cdna_start": 2827,
"cdna_end": null,
"cdna_length": 6383,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000624145.3"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD28",
"gene_hgnc_id": 29024,
"hgvs_c": "c.2682T>G",
"hgvs_p": "p.Ser894Arg",
"transcript": "XM_024453418.2",
"protein_id": "XP_024309186.1",
"transcript_support_level": null,
"aa_start": 894,
"aa_end": null,
"aa_length": 1067,
"cds_start": 2682,
"cds_end": null,
"cds_length": 3204,
"cdna_start": 3172,
"cdna_end": null,
"cdna_length": 6728,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453418.2"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD28",
"gene_hgnc_id": 29024,
"hgvs_c": "c.2673T>G",
"hgvs_p": "p.Ser891Arg",
"transcript": "XM_024453419.2",
"protein_id": "XP_024309187.1",
"transcript_support_level": null,
"aa_start": 891,
"aa_end": null,
"aa_length": 1064,
"cds_start": 2673,
"cds_end": null,
"cds_length": 3195,
"cdna_start": 3163,
"cdna_end": null,
"cdna_length": 6719,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453419.2"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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": "c.2739T>G",
"hgvs_p": "p.Ser913Arg",
"transcript": "XM_047447800.1",
"protein_id": "XP_047303756.1",
"transcript_support_level": null,
"aa_start": 913,
"aa_end": null,
"aa_length": 1027,
"cds_start": 2739,
"cds_end": null,
"cds_length": 3084,
"cdna_start": 4197,
"cdna_end": null,
"cdna_length": 6263,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447800.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD28",
"gene_hgnc_id": 29024,
"hgvs_c": "c.2556T>G",
"hgvs_p": "p.Ser852Arg",
"transcript": "XM_011533542.4",
"protein_id": "XP_011531844.1",
"transcript_support_level": null,
"aa_start": 852,
"aa_end": null,
"aa_length": 1025,
"cds_start": 2556,
"cds_end": null,
"cds_length": 3078,
"cdna_start": 2967,
"cdna_end": null,
"cdna_length": 6523,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533542.4"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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": "c.2730T>G",
"hgvs_p": "p.Ser910Arg",
"transcript": "XM_047447801.1",
"protein_id": "XP_047303757.1",
"transcript_support_level": null,
"aa_start": 910,
"aa_end": null,
"aa_length": 1024,
"cds_start": 2730,
"cds_end": null,
"cds_length": 3075,
"cdna_start": 4188,
"cdna_end": null,
"cdna_length": 6254,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447801.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD28",
"gene_hgnc_id": 29024,
"hgvs_c": "c.2538T>G",
"hgvs_p": "p.Ser846Arg",
"transcript": "XM_047447802.1",
"protein_id": "XP_047303758.1",
"transcript_support_level": null,
"aa_start": 846,
"aa_end": null,
"aa_length": 1019,
"cds_start": 2538,
"cds_end": null,
"cds_length": 3060,
"cdna_start": 3996,
"cdna_end": null,
"cdna_length": 7552,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447802.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD28",
"gene_hgnc_id": 29024,
"hgvs_c": "c.2529T>G",
"hgvs_p": "p.Ser843Arg",
"transcript": "XM_047447803.1",
"protein_id": "XP_047303759.1",
"transcript_support_level": null,
"aa_start": 843,
"aa_end": null,
"aa_length": 1016,
"cds_start": 2529,
"cds_end": null,
"cds_length": 3051,
"cdna_start": 3987,
"cdna_end": null,
"cdna_length": 7543,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447803.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD28",
"gene_hgnc_id": 29024,
"hgvs_c": "c.2472T>G",
"hgvs_p": "p.Ser824Arg",
"transcript": "XM_011533547.4",
"protein_id": "XP_011531849.1",
"transcript_support_level": null,
"aa_start": 824,
"aa_end": null,
"aa_length": 997,
"cds_start": 2472,
"cds_end": null,
"cds_length": 2994,
"cdna_start": 3473,
"cdna_end": null,
"cdna_length": 7029,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533547.4"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD28",
"gene_hgnc_id": 29024,
"hgvs_c": "c.2472T>G",
"hgvs_p": "p.Ser824Arg",
"transcript": "XM_024453422.2",
"protein_id": "XP_024309190.1",
"transcript_support_level": null,
"aa_start": 824,
"aa_end": null,
"aa_length": 997,
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"cdna_end": null,
"cdna_length": 4534,
"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": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD28",
"gene_hgnc_id": 29024,
"hgvs_c": "n.4188T>G",
"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": 5940,
"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": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD28",
"gene_hgnc_id": 29024,
"hgvs_c": "n.4197T>G",
"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": 5949,
"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": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD28",
"gene_hgnc_id": 29024,
"hgvs_c": "n.3051T>G",
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"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": 4803,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007095653.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD28",
"gene_hgnc_id": 29024,
"hgvs_c": "n.*131T>G",
"hgvs_p": null,
"transcript": "ENST00000451422.1",
"protein_id": "ENSP00000394845.1",
"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": 2485,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000451422.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD28",
"gene_hgnc_id": 29024,
"hgvs_c": "c.*74T>G",
"hgvs_p": null,
"transcript": "XM_047447812.1",
"protein_id": "XP_047303768.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 909,
"cds_start": null,
"cds_end": null,
"cds_length": 2730,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4243,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447812.1"
}
],
"gene_symbol": "ANKRD28",
"gene_hgnc_id": 29024,
"dbsnp": "rs759882787",
"frequency_reference_population": 0.000019840876,
"hom_count_reference_population": 0,
"allele_count_reference_population": 32,
"gnomad_exomes_af": 0.0000191715,
"gnomad_genomes_af": 0.0000262588,
"gnomad_exomes_ac": 28,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06784519553184509,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.139,
"revel_prediction": "Benign",
"alphamissense_score": 0.123,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.005,
"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.2739T>G",
"hgvs_p": "p.Ser913Arg"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001370752.1",
"gene_symbol": "BTD",
"hgnc_id": 1122,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1015+32609A>C",
"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
}