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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: 21-33581370-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=33581370&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 33581370,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "NM_017613.4",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DONSON",
"gene_hgnc_id": 2993,
"hgvs_c": "c.1282C>T",
"hgvs_p": "p.Gln428*",
"transcript": "NM_017613.4",
"protein_id": "NP_060083.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 566,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000303071.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017613.4"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DONSON",
"gene_hgnc_id": 2993,
"hgvs_c": "c.1282C>T",
"hgvs_p": "p.Gln428*",
"transcript": "ENST00000303071.10",
"protein_id": "ENSP00000307143.4",
"transcript_support_level": 1,
"aa_start": 428,
"aa_end": null,
"aa_length": 566,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017613.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000303071.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DONSON",
"gene_hgnc_id": 2993,
"hgvs_c": "n.*311C>T",
"hgvs_p": null,
"transcript": "ENST00000442660.5",
"protein_id": "ENSP00000408788.1",
"transcript_support_level": 1,
"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": "ENST00000442660.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DONSON",
"gene_hgnc_id": 2993,
"hgvs_c": "n.*311C>T",
"hgvs_p": null,
"transcript": "ENST00000442660.5",
"protein_id": "ENSP00000408788.1",
"transcript_support_level": 1,
"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": "ENST00000442660.5"
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DONSON",
"gene_hgnc_id": 2993,
"hgvs_c": "n.465-1808C>T",
"hgvs_p": null,
"transcript": "ENST00000444517.5",
"protein_id": "ENSP00000392405.1",
"transcript_support_level": 1,
"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": "ENST00000444517.5"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DONSON",
"gene_hgnc_id": 2993,
"hgvs_c": "c.1360C>T",
"hgvs_p": "p.Gln454*",
"transcript": "ENST00000966267.1",
"protein_id": "ENSP00000636326.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 592,
"cds_start": 1360,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966267.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DONSON",
"gene_hgnc_id": 2993,
"hgvs_c": "c.1282C>T",
"hgvs_p": "p.Gln428*",
"transcript": "ENST00000936411.1",
"protein_id": "ENSP00000606470.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 566,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936411.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DONSON",
"gene_hgnc_id": 2993,
"hgvs_c": "c.1282C>T",
"hgvs_p": "p.Gln428*",
"transcript": "ENST00000966265.1",
"protein_id": "ENSP00000636324.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 565,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966265.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DONSON",
"gene_hgnc_id": 2993,
"hgvs_c": "c.1243C>T",
"hgvs_p": "p.Gln415*",
"transcript": "ENST00000858803.1",
"protein_id": "ENSP00000528862.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 553,
"cds_start": 1243,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858803.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DONSON",
"gene_hgnc_id": 2993,
"hgvs_c": "c.1240C>T",
"hgvs_p": "p.Gln414*",
"transcript": "ENST00000303113.10",
"protein_id": "ENSP00000304716.3",
"transcript_support_level": 5,
"aa_start": 414,
"aa_end": null,
"aa_length": 552,
"cds_start": 1240,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000303113.10"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DONSON",
"gene_hgnc_id": 2993,
"hgvs_c": "c.1240C>T",
"hgvs_p": "p.Gln414*",
"transcript": "ENST00000936413.1",
"protein_id": "ENSP00000606472.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 552,
"cds_start": 1240,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936413.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DONSON",
"gene_hgnc_id": 2993,
"hgvs_c": "c.1192C>T",
"hgvs_p": "p.Gln398*",
"transcript": "ENST00000437395.5",
"protein_id": "ENSP00000399535.1",
"transcript_support_level": 5,
"aa_start": 398,
"aa_end": null,
"aa_length": 536,
"cds_start": 1192,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000437395.5"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DONSON",
"gene_hgnc_id": 2993,
"hgvs_c": "c.1174C>T",
"hgvs_p": "p.Gln392*",
"transcript": "ENST00000936412.1",
"protein_id": "ENSP00000606471.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 530,
"cds_start": 1174,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936412.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DONSON",
"gene_hgnc_id": 2993,
"hgvs_c": "c.1282C>T",
"hgvs_p": "p.Gln428*",
"transcript": "ENST00000858802.1",
"protein_id": "ENSP00000528861.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 524,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858802.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DONSON",
"gene_hgnc_id": 2993,
"hgvs_c": "c.1282C>T",
"hgvs_p": "p.Gln428*",
"transcript": "ENST00000453626.5",
"protein_id": "ENSP00000394276.1",
"transcript_support_level": 5,
"aa_start": 428,
"aa_end": null,
"aa_length": 508,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000453626.5"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DONSON",
"gene_hgnc_id": 2993,
"hgvs_c": "c.1282C>T",
"hgvs_p": "p.Gln428*",
"transcript": "ENST00000432378.5",
"protein_id": "ENSP00000398329.1",
"transcript_support_level": 5,
"aa_start": 428,
"aa_end": null,
"aa_length": 495,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000432378.5"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DONSON",
"gene_hgnc_id": 2993,
"hgvs_c": "c.979C>T",
"hgvs_p": "p.Gln327*",
"transcript": "ENST00000936415.1",
"protein_id": "ENSP00000606474.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 465,
"cds_start": 979,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936415.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DONSON",
"gene_hgnc_id": 2993,
"hgvs_c": "c.595C>T",
"hgvs_p": "p.Gln199*",
"transcript": "ENST00000440810.1",
"protein_id": "ENSP00000401082.1",
"transcript_support_level": 5,
"aa_start": 199,
"aa_end": null,
"aa_length": 233,
"cds_start": 595,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440810.1"
},
{
"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": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "DONSON",
"gene_hgnc_id": 2993,
"hgvs_c": "c.1206+76C>T",
"hgvs_p": null,
"transcript": "ENST00000858799.1",
"protein_id": "ENSP00000528858.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 518,
"cds_start": null,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858799.1"
},
{
"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": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "DONSON",
"gene_hgnc_id": 2993,
"hgvs_c": "c.1206+76C>T",
"hgvs_p": null,
"transcript": "ENST00000936414.1",
"protein_id": "ENSP00000606473.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 517,
"cds_start": null,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936414.1"
},
{
"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": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "DONSON",
"gene_hgnc_id": 2993,
"hgvs_c": "c.945+76C>T",
"hgvs_p": null,
"transcript": "ENST00000858801.1",
"protein_id": "ENSP00000528860.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 431,
"cds_start": null,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858801.1"
},
{
"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": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "DONSON",
"gene_hgnc_id": 2993,
"hgvs_c": "c.864+76C>T",
"hgvs_p": null,
"transcript": "ENST00000966266.1",
"protein_id": "ENSP00000636325.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 404,
"cds_start": null,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966266.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
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"exon_count": 4,
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"cds_length": 753,
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"biotype": "protein_coding",
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{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "DONSON",
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"hgvs_c": "n.*571C>T",
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"transcript": "ENST00000417871.5",
"protein_id": "ENSP00000392014.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000417871.5"
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{
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"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "DONSON",
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"hgvs_c": "n.*470C>T",
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"transcript": "ENST00000457359.5",
"protein_id": "ENSP00000415191.1",
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"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": "ENST00000457359.5"
},
{
"aa_ref": null,
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"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": "DONSON",
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"hgvs_c": "n.235C>T",
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"transcript": "ENST00000462566.1",
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"aa_end": null,
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"cds_start": null,
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"cds_length": null,
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"biotype": "retained_intron",
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{
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"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
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"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DONSON",
"gene_hgnc_id": 2993,
"hgvs_c": "n.*571C>T",
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"transcript": "ENST00000417871.5",
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"cdna_start": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000417871.5"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
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"exon_count": 9,
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"intron_rank_end": null,
"gene_symbol": "DONSON",
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"hgvs_c": "n.*470C>T",
"hgvs_p": null,
"transcript": "ENST00000457359.5",
"protein_id": "ENSP00000415191.1",
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"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": "ENST00000457359.5"
}
],
"gene_symbol": "DONSON",
"gene_hgnc_id": 2993,
"dbsnp": "rs993687029",
"frequency_reference_population": 0.000009913111,
"hom_count_reference_population": 0,
"allele_count_reference_population": 16,
"gnomad_exomes_af": 0.00000957685,
"gnomad_genomes_af": 0.0000131435,
"gnomad_exomes_ac": 14,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.48399999737739563,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "REVEL",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.484,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.59,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.605,
"phylop100way_prediction": "Pathogenic",
"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": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_017613.4",
"gene_symbol": "DONSON",
"hgnc_id": 2993,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1282C>T",
"hgvs_p": "p.Gln428*"
}
],
"clinvar_disease": " and limb abnormalities, short stature,Inborn genetic diseases,Microcephaly,Microcephaly-micromelia syndrome,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2 LP:1",
"phenotype_combined": "Microcephaly, short stature, and limb abnormalities|Microcephaly-micromelia syndrome;Microcephaly, short stature, and limb abnormalities|Inborn genetic diseases|not provided",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}