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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: 5-98774122-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=98774122&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 98774122,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001012761.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGMB",
"gene_hgnc_id": 26896,
"hgvs_c": "c.52G>A",
"hgvs_p": "p.Glu18Lys",
"transcript": "NM_001366508.1",
"protein_id": "NP_001353437.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 437,
"cds_start": 52,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 460,
"cdna_end": null,
"cdna_length": 4463,
"mane_select": "ENST00000513185.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366508.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGMB",
"gene_hgnc_id": 26896,
"hgvs_c": "c.52G>A",
"hgvs_p": "p.Glu18Lys",
"transcript": "ENST00000513185.3",
"protein_id": "ENSP00000423256.1",
"transcript_support_level": 2,
"aa_start": 18,
"aa_end": null,
"aa_length": 437,
"cds_start": 52,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 460,
"cdna_end": null,
"cdna_length": 4463,
"mane_select": "NM_001366508.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000513185.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGMB",
"gene_hgnc_id": 26896,
"hgvs_c": "c.175G>A",
"hgvs_p": "p.Glu59Lys",
"transcript": "ENST00000308234.11",
"protein_id": "ENSP00000308219.7",
"transcript_support_level": 1,
"aa_start": 59,
"aa_end": null,
"aa_length": 478,
"cds_start": 175,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 577,
"cdna_end": null,
"cdna_length": 4580,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000308234.11"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGMB",
"gene_hgnc_id": 26896,
"hgvs_c": "c.175G>A",
"hgvs_p": "p.Glu59Lys",
"transcript": "NM_001012761.3",
"protein_id": "NP_001012779.2",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 478,
"cds_start": 175,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 436,
"cdna_end": null,
"cdna_length": 4439,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001012761.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGMB",
"gene_hgnc_id": 26896,
"hgvs_c": "c.175G>A",
"hgvs_p": "p.Glu59Lys",
"transcript": "NM_001366509.1",
"protein_id": "NP_001353438.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 478,
"cds_start": 175,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 681,
"cdna_end": null,
"cdna_length": 4684,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366509.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGMB",
"gene_hgnc_id": 26896,
"hgvs_c": "c.175G>A",
"hgvs_p": "p.Glu59Lys",
"transcript": "NM_001366510.1",
"protein_id": "NP_001353439.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 478,
"cds_start": 175,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 477,
"cdna_end": null,
"cdna_length": 4480,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366510.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGMB",
"gene_hgnc_id": 26896,
"hgvs_c": "c.172G>A",
"hgvs_p": "p.Glu58Lys",
"transcript": "NM_001366511.1",
"protein_id": "NP_001353440.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 477,
"cds_start": 172,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 433,
"cdna_end": null,
"cdna_length": 4436,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366511.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGMB",
"gene_hgnc_id": 26896,
"hgvs_c": "c.52G>A",
"hgvs_p": "p.Glu18Lys",
"transcript": "ENST00000894564.1",
"protein_id": "ENSP00000564623.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 437,
"cds_start": 52,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 970,
"cdna_end": null,
"cdna_length": 4973,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894564.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGMB",
"gene_hgnc_id": 26896,
"hgvs_c": "c.52G>A",
"hgvs_p": "p.Glu18Lys",
"transcript": "ENST00000894565.1",
"protein_id": "ENSP00000564624.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 437,
"cds_start": 52,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 939,
"cdna_end": null,
"cdna_length": 4942,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894565.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGMB",
"gene_hgnc_id": 26896,
"hgvs_c": "c.52G>A",
"hgvs_p": "p.Glu18Lys",
"transcript": "ENST00000894566.1",
"protein_id": "ENSP00000564625.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 437,
"cds_start": 52,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 350,
"cdna_end": null,
"cdna_length": 4353,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894566.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGMB",
"gene_hgnc_id": 26896,
"hgvs_c": "c.52G>A",
"hgvs_p": "p.Glu18Lys",
"transcript": "ENST00000894567.1",
"protein_id": "ENSP00000564626.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 437,
"cds_start": 52,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 919,
"cdna_end": null,
"cdna_length": 4922,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894567.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGMB",
"gene_hgnc_id": 26896,
"hgvs_c": "c.52G>A",
"hgvs_p": "p.Glu18Lys",
"transcript": "ENST00000894568.1",
"protein_id": "ENSP00000564627.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 437,
"cds_start": 52,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 593,
"cdna_end": null,
"cdna_length": 4591,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894568.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGMB",
"gene_hgnc_id": 26896,
"hgvs_c": "c.52G>A",
"hgvs_p": "p.Glu18Lys",
"transcript": "ENST00000894569.1",
"protein_id": "ENSP00000564628.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 437,
"cds_start": 52,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 571,
"cdna_end": null,
"cdna_length": 2134,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894569.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGMB",
"gene_hgnc_id": 26896,
"hgvs_c": "c.52G>A",
"hgvs_p": "p.Glu18Lys",
"transcript": "ENST00000894570.1",
"protein_id": "ENSP00000564629.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 437,
"cds_start": 52,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 546,
"cdna_end": null,
"cdna_length": 2664,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894570.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGMB",
"gene_hgnc_id": 26896,
"hgvs_c": "c.52G>A",
"hgvs_p": "p.Glu18Lys",
"transcript": "ENST00000894571.1",
"protein_id": "ENSP00000564630.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 437,
"cds_start": 52,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 698,
"cdna_end": null,
"cdna_length": 2224,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894571.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGMB",
"gene_hgnc_id": 26896,
"hgvs_c": "c.52G>A",
"hgvs_p": "p.Glu18Lys",
"transcript": "ENST00000894572.1",
"protein_id": "ENSP00000564631.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 437,
"cds_start": 52,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 391,
"cdna_end": null,
"cdna_length": 1955,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894572.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGMB",
"gene_hgnc_id": 26896,
"hgvs_c": "c.52G>A",
"hgvs_p": "p.Glu18Lys",
"transcript": "ENST00000929800.1",
"protein_id": "ENSP00000599859.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 437,
"cds_start": 52,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 667,
"cdna_end": null,
"cdna_length": 4670,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929800.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGMB",
"gene_hgnc_id": 26896,
"hgvs_c": "c.52G>A",
"hgvs_p": "p.Glu18Lys",
"transcript": "ENST00000929801.1",
"protein_id": "ENSP00000599860.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 437,
"cds_start": 52,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 650,
"cdna_end": null,
"cdna_length": 4651,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929801.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGMB",
"gene_hgnc_id": 26896,
"hgvs_c": "c.52G>A",
"hgvs_p": "p.Glu18Lys",
"transcript": "ENST00000929802.1",
"protein_id": "ENSP00000599861.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 437,
"cds_start": 52,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 598,
"cdna_end": null,
"cdna_length": 4582,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929802.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGMB",
"gene_hgnc_id": 26896,
"hgvs_c": "c.52G>A",
"hgvs_p": "p.Glu18Lys",
"transcript": "ENST00000929803.1",
"protein_id": "ENSP00000599862.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 437,
"cds_start": 52,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 2948,
"cdna_end": null,
"cdna_length": 4510,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929803.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGMB",
"gene_hgnc_id": 26896,
"hgvs_c": "c.52G>A",
"hgvs_p": "p.Glu18Lys",
"transcript": "ENST00000947709.1",
"protein_id": "ENSP00000617768.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 437,
"cds_start": 52,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 693,
"cdna_end": null,
"cdna_length": 2264,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947709.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGMB",
"gene_hgnc_id": 26896,
"hgvs_c": "c.52G>A",
"hgvs_p": "p.Glu18Lys",
"transcript": "ENST00000947710.1",
"protein_id": "ENSP00000617769.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 437,
"cds_start": 52,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 610,
"cdna_end": null,
"cdna_length": 2175,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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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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"feature": "XM_011543345.3"
},
{
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],
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},
{
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"5_prime_UTR_variant"
],
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"feature": "XM_011543346.3"
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{
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"strand": true,
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],
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},
{
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],
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"biotype": "pseudogene",
"feature": "ENST00000504776.5"
},
{
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"intron_variant"
],
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"gene_symbol": "RGMB-AS1",
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"biotype": "pseudogene",
"feature": "ENST00000812108.1"
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],
"gene_symbol": "RGMB",
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"dbsnp": "rs1389589451",
"frequency_reference_population": 0.000003134423,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000313442,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.31932252645492554,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.296,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2556,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.474,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001012761.3",
"gene_symbol": "RGMB",
"hgnc_id": 26896,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
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"hgvs_p": "p.Glu59Lys"
},
{
"score": 1,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000812108.1",
"gene_symbol": "RGMB-AS1",
"hgnc_id": 48666,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.160+226C>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
}