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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: 12-113858876-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=113858876&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 113858876,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_016196.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM19",
"gene_hgnc_id": 29098,
"hgvs_c": "c.2579C>T",
"hgvs_p": "p.Thr860Met",
"transcript": "NM_016196.4",
"protein_id": "NP_057280.2",
"transcript_support_level": null,
"aa_start": 860,
"aa_end": null,
"aa_length": 960,
"cds_start": 2579,
"cds_end": null,
"cds_length": 2883,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000261741.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016196.4"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM19",
"gene_hgnc_id": 29098,
"hgvs_c": "c.2579C>T",
"hgvs_p": "p.Thr860Met",
"transcript": "ENST00000261741.10",
"protein_id": "ENSP00000261741.5",
"transcript_support_level": 1,
"aa_start": 860,
"aa_end": null,
"aa_length": 960,
"cds_start": 2579,
"cds_end": null,
"cds_length": 2883,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016196.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261741.10"
},
{
"aa_ref": "T",
"aa_alt": "M",
"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": "RBM19",
"gene_hgnc_id": 29098,
"hgvs_c": "c.2579C>T",
"hgvs_p": "p.Thr860Met",
"transcript": "ENST00000392561.7",
"protein_id": "ENSP00000376344.3",
"transcript_support_level": 1,
"aa_start": 860,
"aa_end": null,
"aa_length": 960,
"cds_start": 2579,
"cds_end": null,
"cds_length": 2883,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392561.7"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM19",
"gene_hgnc_id": 29098,
"hgvs_c": "c.2579C>T",
"hgvs_p": "p.Thr860Met",
"transcript": "ENST00000970408.1",
"protein_id": "ENSP00000640467.1",
"transcript_support_level": null,
"aa_start": 860,
"aa_end": null,
"aa_length": 1043,
"cds_start": 2579,
"cds_end": null,
"cds_length": 3132,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970408.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM19",
"gene_hgnc_id": 29098,
"hgvs_c": "c.2579C>T",
"hgvs_p": "p.Thr860Met",
"transcript": "ENST00000970412.1",
"protein_id": "ENSP00000640471.1",
"transcript_support_level": null,
"aa_start": 860,
"aa_end": null,
"aa_length": 1013,
"cds_start": 2579,
"cds_end": null,
"cds_length": 3042,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970412.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM19",
"gene_hgnc_id": 29098,
"hgvs_c": "c.2690C>T",
"hgvs_p": "p.Thr897Met",
"transcript": "ENST00000926825.1",
"protein_id": "ENSP00000596884.1",
"transcript_support_level": null,
"aa_start": 897,
"aa_end": null,
"aa_length": 997,
"cds_start": 2690,
"cds_end": null,
"cds_length": 2994,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926825.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM19",
"gene_hgnc_id": 29098,
"hgvs_c": "c.2507C>T",
"hgvs_p": "p.Thr836Met",
"transcript": "ENST00000970404.1",
"protein_id": "ENSP00000640463.1",
"transcript_support_level": null,
"aa_start": 836,
"aa_end": null,
"aa_length": 994,
"cds_start": 2507,
"cds_end": null,
"cds_length": 2985,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970404.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"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": "RBM19",
"gene_hgnc_id": 29098,
"hgvs_c": "c.2579C>T",
"hgvs_p": "p.Thr860Met",
"transcript": "ENST00000970413.1",
"protein_id": "ENSP00000640472.1",
"transcript_support_level": null,
"aa_start": 860,
"aa_end": null,
"aa_length": 990,
"cds_start": 2579,
"cds_end": null,
"cds_length": 2973,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970413.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM19",
"gene_hgnc_id": 29098,
"hgvs_c": "c.2579C>T",
"hgvs_p": "p.Thr860Met",
"transcript": "ENST00000970403.1",
"protein_id": "ENSP00000640462.1",
"transcript_support_level": null,
"aa_start": 860,
"aa_end": null,
"aa_length": 988,
"cds_start": 2579,
"cds_end": null,
"cds_length": 2967,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970403.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"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": "RBM19",
"gene_hgnc_id": 29098,
"hgvs_c": "c.2579C>T",
"hgvs_p": "p.Thr860Met",
"transcript": "ENST00000970406.1",
"protein_id": "ENSP00000640464.1",
"transcript_support_level": null,
"aa_start": 860,
"aa_end": null,
"aa_length": 988,
"cds_start": 2579,
"cds_end": null,
"cds_length": 2967,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970406.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"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": "RBM19",
"gene_hgnc_id": 29098,
"hgvs_c": "c.2573C>T",
"hgvs_p": "p.Thr858Met",
"transcript": "ENST00000970415.1",
"protein_id": "ENSP00000640474.1",
"transcript_support_level": null,
"aa_start": 858,
"aa_end": null,
"aa_length": 986,
"cds_start": 2573,
"cds_end": null,
"cds_length": 2961,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970415.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"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": "RBM19",
"gene_hgnc_id": 29098,
"hgvs_c": "c.2579C>T",
"hgvs_p": "p.Thr860Met",
"transcript": "NM_001146698.2",
"protein_id": "NP_001140170.1",
"transcript_support_level": null,
"aa_start": 860,
"aa_end": null,
"aa_length": 960,
"cds_start": 2579,
"cds_end": null,
"cds_length": 2883,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001146698.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"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": "RBM19",
"gene_hgnc_id": 29098,
"hgvs_c": "c.2579C>T",
"hgvs_p": "p.Thr860Met",
"transcript": "NM_001146699.2",
"protein_id": "NP_001140171.1",
"transcript_support_level": null,
"aa_start": 860,
"aa_end": null,
"aa_length": 960,
"cds_start": 2579,
"cds_end": null,
"cds_length": 2883,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001146699.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"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": "RBM19",
"gene_hgnc_id": 29098,
"hgvs_c": "c.2579C>T",
"hgvs_p": "p.Thr860Met",
"transcript": "ENST00000545145.6",
"protein_id": "ENSP00000442053.2",
"transcript_support_level": 2,
"aa_start": 860,
"aa_end": null,
"aa_length": 960,
"cds_start": 2579,
"cds_end": null,
"cds_length": 2883,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545145.6"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM19",
"gene_hgnc_id": 29098,
"hgvs_c": "c.2576C>T",
"hgvs_p": "p.Thr859Met",
"transcript": "ENST00000970407.1",
"protein_id": "ENSP00000640466.1",
"transcript_support_level": null,
"aa_start": 859,
"aa_end": null,
"aa_length": 959,
"cds_start": 2576,
"cds_end": null,
"cds_length": 2880,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970407.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM19",
"gene_hgnc_id": 29098,
"hgvs_c": "c.2576C>T",
"hgvs_p": "p.Thr859Met",
"transcript": "ENST00000970410.1",
"protein_id": "ENSP00000640469.1",
"transcript_support_level": null,
"aa_start": 859,
"aa_end": null,
"aa_length": 959,
"cds_start": 2576,
"cds_end": null,
"cds_length": 2880,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970410.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM19",
"gene_hgnc_id": 29098,
"hgvs_c": "c.2573C>T",
"hgvs_p": "p.Thr858Met",
"transcript": "ENST00000970414.1",
"protein_id": "ENSP00000640473.1",
"transcript_support_level": null,
"aa_start": 858,
"aa_end": null,
"aa_length": 958,
"cds_start": 2573,
"cds_end": null,
"cds_length": 2877,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970414.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM19",
"gene_hgnc_id": 29098,
"hgvs_c": "c.2570C>T",
"hgvs_p": "p.Thr857Met",
"transcript": "ENST00000926824.1",
"protein_id": "ENSP00000596883.1",
"transcript_support_level": null,
"aa_start": 857,
"aa_end": null,
"aa_length": 957,
"cds_start": 2570,
"cds_end": null,
"cds_length": 2874,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926824.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM19",
"gene_hgnc_id": 29098,
"hgvs_c": "c.2507C>T",
"hgvs_p": "p.Thr836Met",
"transcript": "ENST00000895029.1",
"protein_id": "ENSP00000565088.1",
"transcript_support_level": null,
"aa_start": 836,
"aa_end": null,
"aa_length": 936,
"cds_start": 2507,
"cds_end": null,
"cds_length": 2811,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895029.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM19",
"gene_hgnc_id": 29098,
"hgvs_c": "c.2507C>T",
"hgvs_p": "p.Thr836Met",
"transcript": "ENST00000895030.1",
"protein_id": "ENSP00000565089.1",
"transcript_support_level": null,
"aa_start": 836,
"aa_end": null,
"aa_length": 936,
"cds_start": 2507,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895030.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM19",
"gene_hgnc_id": 29098,
"hgvs_c": "c.2507C>T",
"hgvs_p": "p.Thr836Met",
"transcript": "XM_017020281.2",
"protein_id": "XP_016875770.1",
"transcript_support_level": null,
"aa_start": 836,
"aa_end": null,
"aa_length": 936,
"cds_start": 2507,
"cds_end": null,
"cds_length": 2811,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020281.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM19",
"gene_hgnc_id": 29098,
"hgvs_c": "c.2507C>T",
"hgvs_p": "p.Thr836Met",
"transcript": "XM_047429936.1",
"protein_id": "XP_047285892.1",
"transcript_support_level": null,
"aa_start": 836,
"aa_end": null,
"aa_length": 936,
"cds_start": 2507,
"cds_end": null,
"cds_length": 2811,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429936.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM19",
"gene_hgnc_id": 29098,
"hgvs_c": "n.29C>T",
"hgvs_p": null,
"transcript": "ENST00000552384.1",
"protein_id": "ENSP00000449604.1",
"transcript_support_level": 3,
"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": "nonsense_mediated_decay",
"feature": "ENST00000552384.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM19",
"gene_hgnc_id": 29098,
"hgvs_c": "n.2605C>T",
"hgvs_p": null,
"transcript": "XR_001748932.2",
"protein_id": null,
"transcript_support_level": null,
"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": "XR_001748932.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM19",
"gene_hgnc_id": 29098,
"hgvs_c": "n.2677C>T",
"hgvs_p": null,
"transcript": "XR_944848.3",
"protein_id": null,
"transcript_support_level": null,
"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": "XR_944848.3"
}
],
"gene_symbol": "RBM19",
"gene_hgnc_id": 29098,
"dbsnp": "rs760805668",
"frequency_reference_population": 0.000011771543,
"hom_count_reference_population": 0,
"allele_count_reference_population": 19,
"gnomad_exomes_af": 0.0000116289,
"gnomad_genomes_af": 0.0000131418,
"gnomad_exomes_ac": 17,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5063107013702393,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.454,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0917,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.12,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.333,
"phylop100way_prediction": "Pathogenic",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_016196.4",
"gene_symbol": "RBM19",
"hgnc_id": 29098,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2579C>T",
"hgvs_p": "p.Thr860Met"
}
],
"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
}