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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": 1218,
"cdna_end": null,
"cdna_length": 1917,
"mane_select": "ENST00000511689.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 1218,
"cdna_end": null,
"cdna_length": 1917,
"mane_select": "NM_138610.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 1147,
"cdna_end": null,
"cdna_length": 1314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 1184,
"cdna_end": null,
"cdna_length": 1881,
"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": 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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10982,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 1150,
"cdna_end": null,
"cdna_length": 1849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 1187,
"cdna_end": null,
"cdna_length": 1886,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 1215,
"cdna_end": null,
"cdna_length": 1914,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 1184,
"cdna_end": null,
"cdna_length": 1883,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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.1006G>A",
"hgvs_p": "p.Val336Met",
"transcript": "NM_138609.3",
"protein_id": "NP_613075.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 369,
"cds_start": 1006,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 1209,
"cdna_end": null,
"cdna_length": 1908,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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.1006G>A",
"hgvs_p": "p.Val336Met",
"transcript": "ENST00000312469.8",
"protein_id": "ENSP00000310169.4",
"transcript_support_level": 5,
"aa_start": 336,
"aa_end": null,
"aa_length": 369,
"cds_start": 1006,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 1189,
"cdna_end": null,
"cdna_length": 1859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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.1003G>A",
"hgvs_p": "p.Val335Met",
"transcript": "NM_001400403.1",
"protein_id": "NP_001387332.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 368,
"cds_start": 1003,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 1206,
"cdna_end": null,
"cdna_length": 1905,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROH2A1",
"gene_hgnc_id": 4740,
"hgvs_c": "c.499G>A",
"hgvs_p": "p.Val167Met",
"transcript": "NM_001400404.1",
"protein_id": "NP_001387333.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 200,
"cds_start": 499,
"cds_end": null,
"cds_length": 603,
"cdna_start": 702,
"cdna_end": null,
"cdna_length": 1401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROH2A1",
"gene_hgnc_id": 4740,
"hgvs_c": "c.499G>A",
"hgvs_p": "p.Val167Met",
"transcript": "ENST00000423969.6",
"protein_id": "ENSP00000415121.2",
"transcript_support_level": 2,
"aa_start": 167,
"aa_end": null,
"aa_length": 200,
"cds_start": 499,
"cds_end": null,
"cds_length": 603,
"cdna_start": 700,
"cdna_end": null,
"cdna_length": 924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "XM_011543730.4",
"protein_id": "XP_011542032.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 371,
"cds_start": 1012,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 1147,
"cdna_end": null,
"cdna_length": 1846,
"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": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROH2A1",
"gene_hgnc_id": 4740,
"hgvs_c": "n.1109G>A",
"hgvs_p": null,
"transcript": "ENST00000360597.8",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"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": 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.1045G>A",
"hgvs_p": null,
"transcript": "ENST00000451949.6",
"protein_id": null,
"transcript_support_level": 2,
"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": 1744,
"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": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROH2A1",
"gene_hgnc_id": 4740,
"hgvs_c": "n.*590G>A",
"hgvs_p": null,
"transcript": "ENST00000506671.5",
"protein_id": "ENSP00000423718.1",
"transcript_support_level": 5,
"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": 1905,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROH2A1",
"gene_hgnc_id": 4740,
"hgvs_c": "n.1876G>A",
"hgvs_p": null,
"transcript": "ENST00000511494.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"mane_select": null,
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"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": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROH2A1",
"gene_hgnc_id": 4740,
"hgvs_c": "n.*131G>A",
"hgvs_p": null,
"transcript": "ENST00000687629.1",
"protein_id": "ENSP00000508931.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 2039,
"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": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROH2A1",
"gene_hgnc_id": 4740,
"hgvs_c": "n.*131G>A",
"hgvs_p": null,
"transcript": "ENST00000688649.1",
"protein_id": "ENSP00000510509.1",
"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": 1772,
"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": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROH2A1",
"gene_hgnc_id": 4740,
"hgvs_c": "n.1013G>A",
"hgvs_p": null,
"transcript": "NR_174483.1",
"protein_id": null,
"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": 1712,
"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": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROH2A1",
"gene_hgnc_id": 4740,
"hgvs_c": "n.1202G>A",
"hgvs_p": null,
"transcript": "NR_174484.1",
"protein_id": null,
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"cdna_end": null,
"cdna_length": 1641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PITX1-AS1",
"gene_hgnc_id": 48332,
"hgvs_c": "n.336-2851C>T",
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"transcript": "ENST00000782565.1",
"protein_id": null,
"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": 1609,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 1,
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"gene_symbol": "PITX1-AS1",
"gene_hgnc_id": 48332,
"hgvs_c": "n.208-2851C>T",
"hgvs_p": null,
"transcript": "ENST00000782566.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 1485,
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"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 4,
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"gene_symbol": "PITX1-AS1",
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"hgvs_c": "n.871+919C>T",
"hgvs_p": null,
"transcript": "NR_161235.1",
"protein_id": null,
"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": 2480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MACROH2A1",
"gene_hgnc_id": 4740,
"hgvs_c": "n.*21G>A",
"hgvs_p": null,
"transcript": "ENST00000505827.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 2769,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MACROH2A1",
"gene_hgnc_id": 4740,
"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
}