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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: 17-43529506-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=43529506&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 43529506,
"ref": "C",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001986.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV4",
"gene_hgnc_id": 3493,
"hgvs_c": "c.1126G>A",
"hgvs_p": "p.Glu376Lys",
"transcript": "NM_001079675.5",
"protein_id": "NP_001073143.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 484,
"cds_start": 1126,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000319349.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001079675.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV4",
"gene_hgnc_id": 3493,
"hgvs_c": "c.1126G>A",
"hgvs_p": "p.Glu376Lys",
"transcript": "ENST00000319349.10",
"protein_id": "ENSP00000321835.4",
"transcript_support_level": 1,
"aa_start": 376,
"aa_end": null,
"aa_length": 484,
"cds_start": 1126,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001079675.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000319349.10"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV4",
"gene_hgnc_id": 3493,
"hgvs_c": "c.1126G>A",
"hgvs_p": "p.Glu376Lys",
"transcript": "ENST00000393664.6",
"protein_id": "ENSP00000377273.1",
"transcript_support_level": 1,
"aa_start": 376,
"aa_end": null,
"aa_length": 484,
"cds_start": 1126,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393664.6"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV4",
"gene_hgnc_id": 3493,
"hgvs_c": "c.1126G>A",
"hgvs_p": "p.Glu376Lys",
"transcript": "ENST00000591713.5",
"protein_id": "ENSP00000465718.1",
"transcript_support_level": 1,
"aa_start": 376,
"aa_end": null,
"aa_length": 484,
"cds_start": 1126,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591713.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV4",
"gene_hgnc_id": 3493,
"hgvs_c": "c.295G>A",
"hgvs_p": "p.Glu99Lys",
"transcript": "ENST00000586826.1",
"protein_id": "ENSP00000468636.1",
"transcript_support_level": 1,
"aa_start": 99,
"aa_end": null,
"aa_length": 207,
"cds_start": 295,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000586826.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV4",
"gene_hgnc_id": 3493,
"hgvs_c": "c.1126G>A",
"hgvs_p": "p.Glu376Lys",
"transcript": "NM_001369366.2",
"protein_id": "NP_001356295.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 484,
"cds_start": 1126,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369366.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV4",
"gene_hgnc_id": 3493,
"hgvs_c": "c.1126G>A",
"hgvs_p": "p.Glu376Lys",
"transcript": "NM_001986.4",
"protein_id": "NP_001977.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 484,
"cds_start": 1126,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001986.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV4",
"gene_hgnc_id": 3493,
"hgvs_c": "c.1126G>A",
"hgvs_p": "p.Glu376Lys",
"transcript": "ENST00000857844.1",
"protein_id": "ENSP00000527903.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 484,
"cds_start": 1126,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857844.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV4",
"gene_hgnc_id": 3493,
"hgvs_c": "c.1126G>A",
"hgvs_p": "p.Glu376Lys",
"transcript": "ENST00000922775.1",
"protein_id": "ENSP00000592834.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 484,
"cds_start": 1126,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922775.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV4",
"gene_hgnc_id": 3493,
"hgvs_c": "c.1123G>A",
"hgvs_p": "p.Glu375Lys",
"transcript": "NM_001369367.2",
"protein_id": "NP_001356296.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 483,
"cds_start": 1123,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369367.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV4",
"gene_hgnc_id": 3493,
"hgvs_c": "c.1111G>A",
"hgvs_p": "p.Glu371Lys",
"transcript": "NM_001369368.2",
"protein_id": "NP_001356297.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 479,
"cds_start": 1111,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369368.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV4",
"gene_hgnc_id": 3493,
"hgvs_c": "c.1111G>A",
"hgvs_p": "p.Glu371Lys",
"transcript": "ENST00000857843.1",
"protein_id": "ENSP00000527902.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 479,
"cds_start": 1111,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857843.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV4",
"gene_hgnc_id": 3493,
"hgvs_c": "c.1111G>A",
"hgvs_p": "p.Glu371Lys",
"transcript": "ENST00000922774.1",
"protein_id": "ENSP00000592833.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 479,
"cds_start": 1111,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922774.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV4",
"gene_hgnc_id": 3493,
"hgvs_c": "c.1066G>A",
"hgvs_p": "p.Glu356Lys",
"transcript": "ENST00000922776.1",
"protein_id": "ENSP00000592835.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 464,
"cds_start": 1066,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922776.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV4",
"gene_hgnc_id": 3493,
"hgvs_c": "c.1051G>A",
"hgvs_p": "p.Glu351Lys",
"transcript": "ENST00000922777.1",
"protein_id": "ENSP00000592836.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 459,
"cds_start": 1051,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922777.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV4",
"gene_hgnc_id": 3493,
"hgvs_c": "c.1009G>A",
"hgvs_p": "p.Glu337Lys",
"transcript": "NM_001261437.3",
"protein_id": "NP_001248366.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 445,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001261437.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV4",
"gene_hgnc_id": 3493,
"hgvs_c": "c.1009G>A",
"hgvs_p": "p.Glu337Lys",
"transcript": "NM_001261438.3",
"protein_id": "NP_001248367.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 445,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001261438.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV4",
"gene_hgnc_id": 3493,
"hgvs_c": "c.1009G>A",
"hgvs_p": "p.Glu337Lys",
"transcript": "ENST00000538265.5",
"protein_id": "ENSP00000443846.1",
"transcript_support_level": 2,
"aa_start": 337,
"aa_end": null,
"aa_length": 445,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000538265.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV4",
"gene_hgnc_id": 3493,
"hgvs_c": "c.1009G>A",
"hgvs_p": "p.Glu337Lys",
"transcript": "ENST00000545954.5",
"protein_id": "ENSP00000440023.1",
"transcript_support_level": 2,
"aa_start": 337,
"aa_end": null,
"aa_length": 445,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545954.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV4",
"gene_hgnc_id": 3493,
"hgvs_c": "c.964G>A",
"hgvs_p": "p.Glu322Lys",
"transcript": "ENST00000545089.5",
"protein_id": "ENSP00000441749.1",
"transcript_support_level": 2,
"aa_start": 322,
"aa_end": null,
"aa_length": 430,
"cds_start": 964,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545089.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV4",
"gene_hgnc_id": 3493,
"hgvs_c": "c.949G>A",
"hgvs_p": "p.Glu317Lys",
"transcript": "ENST00000922779.1",
"protein_id": "ENSP00000592838.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 425,
"cds_start": 949,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922779.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
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{
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"splice_region_variant"
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{
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{
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"splice_region_variant"
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{
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"splice_region_variant"
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{
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},
{
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],
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"biotype": "protein_coding",
"feature": "ENST00000589898.2"
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{
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],
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"gene_symbol": "DHX8",
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"transcript": "ENST00000650571.1",
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"biotype": "nonsense_mediated_decay",
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],
"gene_symbol": "ETV4",
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"dbsnp": "rs768920741",
"frequency_reference_population": 0.000012428536,
"hom_count_reference_population": 0,
"allele_count_reference_population": 20,
"gnomad_exomes_af": 0.0000123534,
"gnomad_genomes_af": 0.0000131487,
"gnomad_exomes_ac": 18,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6768608093261719,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.8240000009536743,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.476,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9908,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.13,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.905,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.977190638185931,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001986.4",
"gene_symbol": "ETV4",
"hgnc_id": 3493,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1126G>A",
"hgvs_p": "p.Glu376Lys"
},
{
"score": -3,
"benign_score": 4,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001322219.2",
"gene_symbol": "DHX8",
"hgnc_id": 2749,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3444-6906C>T",
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}
],
"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
}