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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: 5-135335080-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=135335080&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 135335080,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_138610.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROH2A1",
"gene_hgnc_id": 4740,
"hgvs_c": "c.1015G>A",
"hgvs_p": "p.Val339Met",
"transcript": "NM_138610.3",
"protein_id": "NP_613258.2",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 372,
"cds_start": 1015,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000511689.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138610.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROH2A1",
"gene_hgnc_id": 4740,
"hgvs_c": "c.1015G>A",
"hgvs_p": "p.Val339Met",
"transcript": "ENST00000511689.6",
"protein_id": "ENSP00000423563.1",
"transcript_support_level": 1,
"aa_start": 339,
"aa_end": null,
"aa_length": 372,
"cds_start": 1015,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_138610.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000511689.6"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROH2A1",
"gene_hgnc_id": 4740,
"hgvs_c": "c.1015G>A",
"hgvs_p": "p.Val339Met",
"transcript": "ENST00000510038.1",
"protein_id": "ENSP00000424971.1",
"transcript_support_level": 1,
"aa_start": 339,
"aa_end": null,
"aa_length": 372,
"cds_start": 1015,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000510038.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROH2A1",
"gene_hgnc_id": 4740,
"hgvs_c": "c.1012G>A",
"hgvs_p": "p.Val338Met",
"transcript": "ENST00000304332.8",
"protein_id": "ENSP00000302572.4",
"transcript_support_level": 1,
"aa_start": 338,
"aa_end": null,
"aa_length": 371,
"cds_start": 1012,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000304332.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROH2A1",
"gene_hgnc_id": 4740,
"hgvs_c": "n.10283G>A",
"hgvs_p": null,
"transcript": "ENST00000512507.5",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000512507.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROH2A1",
"gene_hgnc_id": 4740,
"hgvs_c": "c.1066G>A",
"hgvs_p": "p.Val356Met",
"transcript": "ENST00000953739.1",
"protein_id": "ENSP00000623798.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 389,
"cds_start": 1066,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953739.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROH2A1",
"gene_hgnc_id": 4740,
"hgvs_c": "c.1030G>A",
"hgvs_p": "p.Val344Met",
"transcript": "ENST00000953745.1",
"protein_id": "ENSP00000623804.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 377,
"cds_start": 1030,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953745.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROH2A1",
"gene_hgnc_id": 4740,
"hgvs_c": "c.1015G>A",
"hgvs_p": "p.Val339Met",
"transcript": "NM_001400401.1",
"protein_id": "NP_001387330.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 372,
"cds_start": 1015,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400401.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROH2A1",
"gene_hgnc_id": 4740,
"hgvs_c": "c.1015G>A",
"hgvs_p": "p.Val339Met",
"transcript": "NM_001400402.1",
"protein_id": "NP_001387331.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 372,
"cds_start": 1015,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400402.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROH2A1",
"gene_hgnc_id": 4740,
"hgvs_c": "c.1015G>A",
"hgvs_p": "p.Val339Met",
"transcript": "ENST00000877622.1",
"protein_id": "ENSP00000547681.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 372,
"cds_start": 1015,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877622.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROH2A1",
"gene_hgnc_id": 4740,
"hgvs_c": "c.1015G>A",
"hgvs_p": "p.Val339Met",
"transcript": "ENST00000877623.1",
"protein_id": "ENSP00000547682.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 372,
"cds_start": 1015,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877623.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROH2A1",
"gene_hgnc_id": 4740,
"hgvs_c": "c.1015G>A",
"hgvs_p": "p.Val339Met",
"transcript": "ENST00000923036.1",
"protein_id": "ENSP00000593095.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 372,
"cds_start": 1015,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923036.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROH2A1",
"gene_hgnc_id": 4740,
"hgvs_c": "c.1015G>A",
"hgvs_p": "p.Val339Met",
"transcript": "ENST00000953740.1",
"protein_id": "ENSP00000623799.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 372,
"cds_start": 1015,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953740.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROH2A1",
"gene_hgnc_id": 4740,
"hgvs_c": "c.1015G>A",
"hgvs_p": "p.Val339Met",
"transcript": "ENST00000953746.1",
"protein_id": "ENSP00000623805.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 372,
"cds_start": 1015,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953746.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROH2A1",
"gene_hgnc_id": 4740,
"hgvs_c": "c.1012G>A",
"hgvs_p": "p.Val338Met",
"transcript": "NM_001040158.2",
"protein_id": "NP_001035248.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 371,
"cds_start": 1012,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001040158.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROH2A1",
"gene_hgnc_id": 4740,
"hgvs_c": "c.1012G>A",
"hgvs_p": "p.Val338Met",
"transcript": "NM_004893.3",
"protein_id": "NP_004884.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 371,
"cds_start": 1012,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004893.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROH2A1",
"gene_hgnc_id": 4740,
"hgvs_c": "c.1012G>A",
"hgvs_p": "p.Val338Met",
"transcript": "ENST00000877621.1",
"protein_id": "ENSP00000547680.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 371,
"cds_start": 1012,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877621.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROH2A1",
"gene_hgnc_id": 4740,
"hgvs_c": "c.1012G>A",
"hgvs_p": "p.Val338Met",
"transcript": "ENST00000877624.1",
"protein_id": "ENSP00000547683.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 371,
"cds_start": 1012,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877624.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROH2A1",
"gene_hgnc_id": 4740,
"hgvs_c": "c.1012G>A",
"hgvs_p": "p.Val338Met",
"transcript": "ENST00000923034.1",
"protein_id": "ENSP00000593093.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 371,
"cds_start": 1012,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923034.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROH2A1",
"gene_hgnc_id": 4740,
"hgvs_c": "c.1012G>A",
"hgvs_p": "p.Val338Met",
"transcript": "ENST00000923035.1",
"protein_id": "ENSP00000593094.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 371,
"cds_start": 1012,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923035.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROH2A1",
"gene_hgnc_id": 4740,
"hgvs_c": "c.1012G>A",
"hgvs_p": "p.Val338Met",
"transcript": "ENST00000953738.1",
"protein_id": "ENSP00000623797.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 371,
"cds_start": 1012,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953738.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROH2A1",
"gene_hgnc_id": 4740,
"hgvs_c": "c.1009G>A",
"hgvs_p": "p.Val337Met",
"transcript": "ENST00000877626.1",
"protein_id": "ENSP00000547685.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 370,
"cds_start": 1009,
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{
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{
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"biotype": "pseudogene",
"feature": "NR_174501.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000506671.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
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"gene_symbol": "MACROH2A1",
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},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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"gene_symbol": "MACROH2A1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000688649.1"
},
{
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"strand": true,
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],
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},
{
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],
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{
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"feature": "ENST00000624272.3"
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{
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{
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{
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{
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],
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},
{
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"strand": true,
"consequences": [
"downstream_gene_variant"
],
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"gene_symbol": "MACROH2A1",
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"biotype": "retained_intron",
"feature": "ENST00000505827.1"
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],
"gene_symbol": "MACROH2A1",
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"dbsnp": "rs149823680",
"frequency_reference_population": 0.00009421472,
"hom_count_reference_population": 0,
"allele_count_reference_population": 152,
"gnomad_exomes_af": 0.000101975,
"gnomad_genomes_af": 0.0000197109,
"gnomad_exomes_ac": 149,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.16869771480560303,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.156,
"revel_prediction": "Benign",
"alphamissense_score": 0.5979,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.17,
"phylop100way_prediction": "Uncertain_significance",
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_138610.3",
"gene_symbol": "MACROH2A1",
"hgnc_id": 4740,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1015G>A",
"hgvs_p": "p.Val339Met"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000624272.3",
"gene_symbol": "PITX1-AS1",
"hgnc_id": 48332,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.865+919C>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
}