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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: 3-49967663-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=49967663&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 49967663,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_005777.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM6",
"gene_hgnc_id": 9903,
"hgvs_c": "c.238G>A",
"hgvs_p": "p.Gly80Arg",
"transcript": "NM_005777.3",
"protein_id": "NP_005768.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 1123,
"cds_start": 238,
"cds_end": null,
"cds_length": 3372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000266022.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005777.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM6",
"gene_hgnc_id": 9903,
"hgvs_c": "c.238G>A",
"hgvs_p": "p.Gly80Arg",
"transcript": "ENST00000266022.9",
"protein_id": "ENSP00000266022.4",
"transcript_support_level": 1,
"aa_start": 80,
"aa_end": null,
"aa_length": 1123,
"cds_start": 238,
"cds_end": null,
"cds_length": 3372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005777.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000266022.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RBM6",
"gene_hgnc_id": 9903,
"hgvs_c": "c.-10+4978G>A",
"hgvs_p": null,
"transcript": "ENST00000442092.5",
"protein_id": "ENSP00000393530.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 601,
"cds_start": null,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000442092.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM6",
"gene_hgnc_id": 9903,
"hgvs_c": "c.238G>A",
"hgvs_p": "p.Gly80Arg",
"transcript": "ENST00000858028.1",
"protein_id": "ENSP00000528087.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 1131,
"cds_start": 238,
"cds_end": null,
"cds_length": 3396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858028.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM6",
"gene_hgnc_id": 9903,
"hgvs_c": "c.238G>A",
"hgvs_p": "p.Gly80Arg",
"transcript": "ENST00000858030.1",
"protein_id": "ENSP00000528089.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 1123,
"cds_start": 238,
"cds_end": null,
"cds_length": 3372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858030.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM6",
"gene_hgnc_id": 9903,
"hgvs_c": "c.238G>A",
"hgvs_p": "p.Gly80Arg",
"transcript": "ENST00000931422.1",
"protein_id": "ENSP00000601481.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 1123,
"cds_start": 238,
"cds_end": null,
"cds_length": 3372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931422.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM6",
"gene_hgnc_id": 9903,
"hgvs_c": "c.238G>A",
"hgvs_p": "p.Gly80Arg",
"transcript": "ENST00000931423.1",
"protein_id": "ENSP00000601482.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 1123,
"cds_start": 238,
"cds_end": null,
"cds_length": 3372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931423.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM6",
"gene_hgnc_id": 9903,
"hgvs_c": "c.238G>A",
"hgvs_p": "p.Gly80Arg",
"transcript": "ENST00000858029.1",
"protein_id": "ENSP00000528088.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 1078,
"cds_start": 238,
"cds_end": null,
"cds_length": 3237,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858029.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM6",
"gene_hgnc_id": 9903,
"hgvs_c": "c.238G>A",
"hgvs_p": "p.Gly80Arg",
"transcript": "ENST00000947579.1",
"protein_id": "ENSP00000617638.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 751,
"cds_start": 238,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947579.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM6",
"gene_hgnc_id": 9903,
"hgvs_c": "c.238G>A",
"hgvs_p": "p.Gly80Arg",
"transcript": "XM_047447131.1",
"protein_id": "XP_047303087.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 1123,
"cds_start": 238,
"cds_end": null,
"cds_length": 3372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447131.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM6",
"gene_hgnc_id": 9903,
"hgvs_c": "c.238G>A",
"hgvs_p": "p.Gly80Arg",
"transcript": "XM_047447132.1",
"protein_id": "XP_047303088.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 1040,
"cds_start": 238,
"cds_end": null,
"cds_length": 3123,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447132.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM6",
"gene_hgnc_id": 9903,
"hgvs_c": "c.238G>A",
"hgvs_p": "p.Gly80Arg",
"transcript": "XM_017005496.3",
"protein_id": "XP_016860985.2",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 769,
"cds_start": 238,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005496.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM6",
"gene_hgnc_id": 9903,
"hgvs_c": "c.238G>A",
"hgvs_p": "p.Gly80Arg",
"transcript": "XM_047447136.1",
"protein_id": "XP_047303092.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 584,
"cds_start": 238,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447136.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM6",
"gene_hgnc_id": 9903,
"hgvs_c": "c.238G>A",
"hgvs_p": "p.Gly80Arg",
"transcript": "XM_047447137.1",
"protein_id": "XP_047303093.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 584,
"cds_start": 238,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447137.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM6",
"gene_hgnc_id": 9903,
"hgvs_c": "c.-159G>A",
"hgvs_p": null,
"transcript": "ENST00000443081.5",
"protein_id": "ENSP00000396466.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 991,
"cds_start": null,
"cds_end": null,
"cds_length": 2976,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000443081.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM6",
"gene_hgnc_id": 9903,
"hgvs_c": "c.-1255G>A",
"hgvs_p": null,
"transcript": "NM_001349191.2",
"protein_id": "NP_001336120.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 601,
"cds_start": null,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349191.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM6",
"gene_hgnc_id": 9903,
"hgvs_c": "c.-1614G>A",
"hgvs_p": null,
"transcript": "NM_001349192.2",
"protein_id": "NP_001336121.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 601,
"cds_start": null,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349192.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM6",
"gene_hgnc_id": 9903,
"hgvs_c": "c.-1496G>A",
"hgvs_p": null,
"transcript": "NM_001349193.2",
"protein_id": "NP_001336122.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 601,
"cds_start": null,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349193.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM6",
"gene_hgnc_id": 9903,
"hgvs_c": "c.-159G>A",
"hgvs_p": null,
"transcript": "XM_006712916.2",
"protein_id": "XP_006712979.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 991,
"cds_start": null,
"cds_end": null,
"cds_length": 2976,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712916.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RBM6",
"gene_hgnc_id": 9903,
"hgvs_c": "c.-60+4978G>A",
"hgvs_p": null,
"transcript": "NM_001349194.2",
"protein_id": "NP_001336123.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 609,
"cds_start": null,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349194.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RBM6",
"gene_hgnc_id": 9903,
"hgvs_c": "c.-10+4978G>A",
"hgvs_p": null,
"transcript": "NM_001167582.2",
"protein_id": "NP_001161054.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 601,
"cds_start": null,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001167582.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RBM6",
"gene_hgnc_id": 9903,
"hgvs_c": "c.-169-4396G>A",
"hgvs_p": null,
"transcript": "NM_001349190.2",
"protein_id": "NP_001336119.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 601,
"cds_start": null,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349190.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
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{
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{
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"feature": "ENST00000425608.5"
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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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{
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],
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{
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],
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"gene_symbol": "RBM6",
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},
{
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"consequences": [
"downstream_gene_variant"
],
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"gene_symbol": "RBM6",
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"transcript": "ENST00000433811.1",
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"biotype": "protein_coding",
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],
"gene_symbol": "RBM6",
"gene_hgnc_id": 9903,
"dbsnp": "rs775742397",
"frequency_reference_population": 0.000003097955,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000273618,
"gnomad_genomes_af": 0.00000657566,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.17054525017738342,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.142,
"revel_prediction": "Benign",
"alphamissense_score": 0.4695,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.997,
"phylop100way_prediction": "Benign",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_005777.3",
"gene_symbol": "RBM6",
"hgnc_id": 9903,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.238G>A",
"hgvs_p": "p.Gly80Arg"
}
],
"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
}