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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: 1-155342040-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=155342040&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 155342040,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000392403.8",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "P",
"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": "ASH1L",
"gene_hgnc_id": 19088,
"hgvs_c": "c.8356G>C",
"hgvs_p": "p.Ala2786Pro",
"transcript": "NM_018489.3",
"protein_id": "NP_060959.2",
"transcript_support_level": null,
"aa_start": 2786,
"aa_end": null,
"aa_length": 2964,
"cds_start": 8356,
"cds_end": null,
"cds_length": 8895,
"cdna_start": 9106,
"cdna_end": null,
"cdna_length": 12037,
"mane_select": "ENST00000392403.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"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": "ASH1L",
"gene_hgnc_id": 19088,
"hgvs_c": "c.8356G>C",
"hgvs_p": "p.Ala2786Pro",
"transcript": "ENST00000392403.8",
"protein_id": "ENSP00000376204.3",
"transcript_support_level": 5,
"aa_start": 2786,
"aa_end": null,
"aa_length": 2964,
"cds_start": 8356,
"cds_end": null,
"cds_length": 8895,
"cdna_start": 9106,
"cdna_end": null,
"cdna_length": 12037,
"mane_select": "NM_018489.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"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": "ASH1L",
"gene_hgnc_id": 19088,
"hgvs_c": "c.8371G>C",
"hgvs_p": "p.Ala2791Pro",
"transcript": "ENST00000368346.7",
"protein_id": "ENSP00000357330.3",
"transcript_support_level": 1,
"aa_start": 2791,
"aa_end": null,
"aa_length": 2969,
"cds_start": 8371,
"cds_end": null,
"cds_length": 8910,
"cdna_start": 9011,
"cdna_end": null,
"cdna_length": 11942,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"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": "ASH1L",
"gene_hgnc_id": 19088,
"hgvs_c": "c.8371G>C",
"hgvs_p": "p.Ala2791Pro",
"transcript": "NM_001366177.2",
"protein_id": "NP_001353106.1",
"transcript_support_level": null,
"aa_start": 2791,
"aa_end": null,
"aa_length": 2969,
"cds_start": 8371,
"cds_end": null,
"cds_length": 8910,
"cdna_start": 9121,
"cdna_end": null,
"cdna_length": 12052,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"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": "ASH1L",
"gene_hgnc_id": 19088,
"hgvs_c": "c.8356G>C",
"hgvs_p": "p.Ala2786Pro",
"transcript": "ENST00000679133.1",
"protein_id": "ENSP00000504026.1",
"transcript_support_level": null,
"aa_start": 2786,
"aa_end": null,
"aa_length": 2969,
"cds_start": 8356,
"cds_end": null,
"cds_length": 8910,
"cdna_start": 8518,
"cdna_end": null,
"cdna_length": 11431,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"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": "ASH1L",
"gene_hgnc_id": 19088,
"hgvs_c": "c.8356G>C",
"hgvs_p": "p.Ala2786Pro",
"transcript": "ENST00000677213.1",
"protein_id": "ENSP00000503315.1",
"transcript_support_level": null,
"aa_start": 2786,
"aa_end": null,
"aa_length": 2964,
"cds_start": 8356,
"cds_end": null,
"cds_length": 8895,
"cdna_start": 8545,
"cdna_end": null,
"cdna_length": 11457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"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": "ASH1L",
"gene_hgnc_id": 19088,
"hgvs_c": "c.8356G>C",
"hgvs_p": "p.Ala2786Pro",
"transcript": "ENST00000678117.1",
"protein_id": "ENSP00000504629.1",
"transcript_support_level": null,
"aa_start": 2786,
"aa_end": null,
"aa_length": 2964,
"cds_start": 8356,
"cds_end": null,
"cds_length": 8895,
"cdna_start": 8637,
"cdna_end": null,
"cdna_length": 11549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"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": "ASH1L",
"gene_hgnc_id": 19088,
"hgvs_c": "c.8356G>C",
"hgvs_p": "p.Ala2786Pro",
"transcript": "ENST00000679097.1",
"protein_id": "ENSP00000503265.1",
"transcript_support_level": null,
"aa_start": 2786,
"aa_end": null,
"aa_length": 2964,
"cds_start": 8356,
"cds_end": null,
"cds_length": 8895,
"cdna_start": 8618,
"cdna_end": null,
"cdna_length": 11530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"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": "ASH1L",
"gene_hgnc_id": 19088,
"hgvs_c": "c.8353G>C",
"hgvs_p": "p.Ala2785Pro",
"transcript": "ENST00000677825.1",
"protein_id": "ENSP00000503792.1",
"transcript_support_level": null,
"aa_start": 2785,
"aa_end": null,
"aa_length": 2963,
"cds_start": 8353,
"cds_end": null,
"cds_length": 8892,
"cdna_start": 8452,
"cdna_end": null,
"cdna_length": 11364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"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": "ASH1L",
"gene_hgnc_id": 19088,
"hgvs_c": "c.8176G>C",
"hgvs_p": "p.Ala2726Pro",
"transcript": "ENST00000679333.1",
"protein_id": "ENSP00000504598.1",
"transcript_support_level": null,
"aa_start": 2726,
"aa_end": null,
"aa_length": 2904,
"cds_start": 8176,
"cds_end": null,
"cds_length": 8715,
"cdna_start": 8338,
"cdna_end": null,
"cdna_length": 11250,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH1L",
"gene_hgnc_id": 19088,
"hgvs_c": "c.478G>C",
"hgvs_p": "p.Ala160Pro",
"transcript": "ENST00000677992.1",
"protein_id": "ENSP00000503958.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 338,
"cds_start": 478,
"cds_end": null,
"cds_length": 1017,
"cdna_start": 479,
"cdna_end": null,
"cdna_length": 3377,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"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": "ASH1L",
"gene_hgnc_id": 19088,
"hgvs_c": "c.8356G>C",
"hgvs_p": "p.Ala2786Pro",
"transcript": "XM_006711450.4",
"protein_id": "XP_006711513.1",
"transcript_support_level": null,
"aa_start": 2786,
"aa_end": null,
"aa_length": 2964,
"cds_start": 8356,
"cds_end": null,
"cds_length": 8895,
"cdna_start": 8586,
"cdna_end": null,
"cdna_length": 11517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"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": "ASH1L",
"gene_hgnc_id": 19088,
"hgvs_c": "c.8356G>C",
"hgvs_p": "p.Ala2786Pro",
"transcript": "XM_006711451.4",
"protein_id": "XP_006711514.1",
"transcript_support_level": null,
"aa_start": 2786,
"aa_end": null,
"aa_length": 2964,
"cds_start": 8356,
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"cds_length": 8895,
"cdna_start": 8661,
"cdna_end": null,
"cdna_length": 11592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"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": "ASH1L",
"gene_hgnc_id": 19088,
"hgvs_c": "c.8356G>C",
"hgvs_p": "p.Ala2786Pro",
"transcript": "XM_017001785.2",
"protein_id": "XP_016857274.1",
"transcript_support_level": null,
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"aa_end": null,
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"cds_start": 8356,
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"cdna_start": 8585,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"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": "ASH1L",
"gene_hgnc_id": 19088,
"hgvs_c": "c.8356G>C",
"hgvs_p": "p.Ala2786Pro",
"transcript": "XM_047425230.1",
"protein_id": "XP_047281186.1",
"transcript_support_level": null,
"aa_start": 2786,
"aa_end": null,
"aa_length": 2964,
"cds_start": 8356,
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"cdna_start": 8703,
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"cdna_length": 11634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"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": "ASH1L",
"gene_hgnc_id": 19088,
"hgvs_c": "c.8356G>C",
"hgvs_p": "p.Ala2786Pro",
"transcript": "XM_047425235.1",
"protein_id": "XP_047281191.1",
"transcript_support_level": null,
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"cdna_start": 12342,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"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": "ASH1L",
"gene_hgnc_id": 19088,
"hgvs_c": "c.8356G>C",
"hgvs_p": "p.Ala2786Pro",
"transcript": "XM_047425241.1",
"protein_id": "XP_047281197.1",
"transcript_support_level": null,
"aa_start": 2786,
"aa_end": null,
"aa_length": 2964,
"cds_start": 8356,
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"cdna_start": 9593,
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"cdna_length": 12524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"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": "ASH1L",
"gene_hgnc_id": 19088,
"hgvs_c": "c.8176G>C",
"hgvs_p": "p.Ala2726Pro",
"transcript": "XM_047425247.1",
"protein_id": "XP_047281203.1",
"transcript_support_level": null,
"aa_start": 2726,
"aa_end": null,
"aa_length": 2904,
"cds_start": 8176,
"cds_end": null,
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"cdna_start": 8481,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"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": "ASH1L",
"gene_hgnc_id": 19088,
"hgvs_c": "c.8176G>C",
"hgvs_p": "p.Ala2726Pro",
"transcript": "XM_047425248.1",
"protein_id": "XP_047281204.1",
"transcript_support_level": null,
"aa_start": 2726,
"aa_end": null,
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"cdna_start": 8405,
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"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH1L",
"gene_hgnc_id": 19088,
"hgvs_c": "c.3196G>C",
"hgvs_p": "p.Ala1066Pro",
"transcript": "XM_011509770.4",
"protein_id": "XP_011508072.1",
"transcript_support_level": null,
"aa_start": 1066,
"aa_end": null,
"aa_length": 1244,
"cds_start": 3196,
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"cdna_start": 3361,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH1L",
"gene_hgnc_id": 19088,
"hgvs_c": "c.3196G>C",
"hgvs_p": "p.Ala1066Pro",
"transcript": "XM_017001788.2",
"protein_id": "XP_016857277.1",
"transcript_support_level": null,
"aa_start": 1066,
"aa_end": null,
"aa_length": 1244,
"cds_start": 3196,
"cds_end": null,
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"cdna_start": 3334,
"cdna_end": null,
"cdna_length": 6265,
"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": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASH1L",
"gene_hgnc_id": 19088,
"hgvs_c": "n.*3373G>C",
"hgvs_p": null,
"transcript": "ENST00000676814.1",
"protein_id": "ENSP00000504300.1",
"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": 12184,
"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": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
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"gene_symbol": "ASH1L",
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},
{
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},
{
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},
{
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},
{
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}
],
"gene_symbol": "ASH1L",
"gene_hgnc_id": 19088,
"dbsnp": "rs1553241570",
"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": 0.8890221118927002,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.853,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9951,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.36,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.492,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.04,
"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": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate,PP5",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000392403.8",
"gene_symbol": "ASH1L",
"hgnc_id": 19088,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.8356G>C",
"hgvs_p": "p.Ala2786Pro"
}
],
"clinvar_disease": " autosomal dominant 52,Intellectual disability",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Intellectual disability, autosomal dominant 52",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}