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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: 6-145919455-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=145919455&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 145919455,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001042683.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHPRH",
"gene_hgnc_id": 19336,
"hgvs_c": "c.4045G>A",
"hgvs_p": "p.Val1349Met",
"transcript": "NM_001042683.3",
"protein_id": "NP_001036148.2",
"transcript_support_level": null,
"aa_start": 1349,
"aa_end": null,
"aa_length": 1683,
"cds_start": 4045,
"cds_end": null,
"cds_length": 5052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000275233.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042683.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHPRH",
"gene_hgnc_id": 19336,
"hgvs_c": "c.4045G>A",
"hgvs_p": "p.Val1349Met",
"transcript": "ENST00000275233.12",
"protein_id": "ENSP00000275233.7",
"transcript_support_level": 1,
"aa_start": 1349,
"aa_end": null,
"aa_length": 1683,
"cds_start": 4045,
"cds_end": null,
"cds_length": 5052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001042683.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000275233.12"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHPRH",
"gene_hgnc_id": 19336,
"hgvs_c": "c.4057G>A",
"hgvs_p": "p.Val1353Met",
"transcript": "ENST00000438092.6",
"protein_id": "ENSP00000412797.2",
"transcript_support_level": 1,
"aa_start": 1353,
"aa_end": null,
"aa_length": 1659,
"cds_start": 4057,
"cds_end": null,
"cds_length": 4980,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438092.6"
},
{
"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": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHPRH",
"gene_hgnc_id": 19336,
"hgvs_c": "n.*2648G>A",
"hgvs_p": null,
"transcript": "ENST00000433355.6",
"protein_id": "ENSP00000408019.2",
"transcript_support_level": 1,
"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": "ENST00000433355.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHPRH",
"gene_hgnc_id": 19336,
"hgvs_c": "n.*2648G>A",
"hgvs_p": null,
"transcript": "ENST00000433355.6",
"protein_id": "ENSP00000408019.2",
"transcript_support_level": 1,
"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": "ENST00000433355.6"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHPRH",
"gene_hgnc_id": 19336,
"hgvs_c": "c.4057G>A",
"hgvs_p": "p.Val1353Met",
"transcript": "ENST00000629427.2",
"protein_id": "ENSP00000486723.1",
"transcript_support_level": 5,
"aa_start": 1353,
"aa_end": null,
"aa_length": 1687,
"cds_start": 4057,
"cds_end": null,
"cds_length": 5064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000629427.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHPRH",
"gene_hgnc_id": 19336,
"hgvs_c": "c.4045G>A",
"hgvs_p": "p.Val1349Met",
"transcript": "NM_001370327.1",
"protein_id": "NP_001357256.1",
"transcript_support_level": null,
"aa_start": 1349,
"aa_end": null,
"aa_length": 1683,
"cds_start": 4045,
"cds_end": null,
"cds_length": 5052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370327.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHPRH",
"gene_hgnc_id": 19336,
"hgvs_c": "c.4045G>A",
"hgvs_p": "p.Val1349Met",
"transcript": "ENST00000367505.6",
"protein_id": "ENSP00000356475.2",
"transcript_support_level": 5,
"aa_start": 1349,
"aa_end": null,
"aa_length": 1683,
"cds_start": 4045,
"cds_end": null,
"cds_length": 5052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367505.6"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHPRH",
"gene_hgnc_id": 19336,
"hgvs_c": "c.4045G>A",
"hgvs_p": "p.Val1349Met",
"transcript": "ENST00000915805.1",
"protein_id": "ENSP00000585864.1",
"transcript_support_level": null,
"aa_start": 1349,
"aa_end": null,
"aa_length": 1683,
"cds_start": 4045,
"cds_end": null,
"cds_length": 5052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915805.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHPRH",
"gene_hgnc_id": 19336,
"hgvs_c": "c.4057G>A",
"hgvs_p": "p.Val1353Met",
"transcript": "NM_173082.4",
"protein_id": "NP_775105.1",
"transcript_support_level": null,
"aa_start": 1353,
"aa_end": null,
"aa_length": 1659,
"cds_start": 4057,
"cds_end": null,
"cds_length": 4980,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173082.4"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHPRH",
"gene_hgnc_id": 19336,
"hgvs_c": "c.2602G>A",
"hgvs_p": "p.Val868Met",
"transcript": "NM_001370328.1",
"protein_id": "NP_001357257.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 1202,
"cds_start": 2602,
"cds_end": null,
"cds_length": 3609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370328.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHPRH",
"gene_hgnc_id": 19336,
"hgvs_c": "c.4045G>A",
"hgvs_p": "p.Val1349Met",
"transcript": "XM_047418600.1",
"protein_id": "XP_047274556.1",
"transcript_support_level": null,
"aa_start": 1349,
"aa_end": null,
"aa_length": 1774,
"cds_start": 4045,
"cds_end": null,
"cds_length": 5325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418600.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHPRH",
"gene_hgnc_id": 19336,
"hgvs_c": "c.4045G>A",
"hgvs_p": "p.Val1349Met",
"transcript": "XM_047418601.1",
"protein_id": "XP_047274557.1",
"transcript_support_level": null,
"aa_start": 1349,
"aa_end": null,
"aa_length": 1774,
"cds_start": 4045,
"cds_end": null,
"cds_length": 5325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418601.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHPRH",
"gene_hgnc_id": 19336,
"hgvs_c": "c.4045G>A",
"hgvs_p": "p.Val1349Met",
"transcript": "XM_017010691.3",
"protein_id": "XP_016866180.1",
"transcript_support_level": null,
"aa_start": 1349,
"aa_end": null,
"aa_length": 1744,
"cds_start": 4045,
"cds_end": null,
"cds_length": 5235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010691.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHPRH",
"gene_hgnc_id": 19336,
"hgvs_c": "c.4045G>A",
"hgvs_p": "p.Val1349Met",
"transcript": "XM_017010692.2",
"protein_id": "XP_016866181.1",
"transcript_support_level": null,
"aa_start": 1349,
"aa_end": null,
"aa_length": 1744,
"cds_start": 4045,
"cds_end": null,
"cds_length": 5235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010692.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHPRH",
"gene_hgnc_id": 19336,
"hgvs_c": "c.4045G>A",
"hgvs_p": "p.Val1349Met",
"transcript": "XM_006715439.5",
"protein_id": "XP_006715502.1",
"transcript_support_level": null,
"aa_start": 1349,
"aa_end": null,
"aa_length": 1707,
"cds_start": 4045,
"cds_end": null,
"cds_length": 5124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006715439.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHPRH",
"gene_hgnc_id": 19336,
"hgvs_c": "c.4045G>A",
"hgvs_p": "p.Val1349Met",
"transcript": "XM_017010693.3",
"protein_id": "XP_016866182.1",
"transcript_support_level": null,
"aa_start": 1349,
"aa_end": null,
"aa_length": 1690,
"cds_start": 4045,
"cds_end": null,
"cds_length": 5073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010693.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHPRH",
"gene_hgnc_id": 19336,
"hgvs_c": "c.4045G>A",
"hgvs_p": "p.Val1349Met",
"transcript": "XM_011535719.4",
"protein_id": "XP_011534021.1",
"transcript_support_level": null,
"aa_start": 1349,
"aa_end": null,
"aa_length": 1677,
"cds_start": 4045,
"cds_end": null,
"cds_length": 5034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535719.4"
},
{
"aa_ref": "V",
"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": "SHPRH",
"gene_hgnc_id": 19336,
"hgvs_c": "c.4045G>A",
"hgvs_p": "p.Val1349Met",
"transcript": "XM_006715443.5",
"protein_id": "XP_006715506.1",
"transcript_support_level": null,
"aa_start": 1349,
"aa_end": null,
"aa_length": 1507,
"cds_start": 4045,
"cds_end": null,
"cds_length": 4524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006715443.5"
},
{
"aa_ref": "V",
"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": "SHPRH",
"gene_hgnc_id": 19336,
"hgvs_c": "c.4045G>A",
"hgvs_p": "p.Val1349Met",
"transcript": "XM_047418602.1",
"protein_id": "XP_047274558.1",
"transcript_support_level": null,
"aa_start": 1349,
"aa_end": null,
"aa_length": 1507,
"cds_start": 4045,
"cds_end": null,
"cds_length": 4524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418602.1"
},
{
"aa_ref": "V",
"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": "SHPRH",
"gene_hgnc_id": 19336,
"hgvs_c": "c.4045G>A",
"hgvs_p": "p.Val1349Met",
"transcript": "XM_047418603.1",
"protein_id": "XP_047274559.1",
"transcript_support_level": null,
"aa_start": 1349,
"aa_end": null,
"aa_length": 1507,
"cds_start": 4045,
"cds_end": null,
"cds_length": 4524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418603.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHPRH",
"gene_hgnc_id": 19336,
"hgvs_c": "n.*929G>A",
"hgvs_p": null,
"transcript": "ENST00000519632.5",
"protein_id": "ENSP00000430528.1",
"transcript_support_level": 5,
"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": "ENST00000519632.5"
},
{
"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": "SHPRH",
"gene_hgnc_id": 19336,
"hgvs_c": "n.992G>A",
"hgvs_p": null,
"transcript": "ENST00000523276.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000523276.1"
},
{
"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": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHPRH",
"gene_hgnc_id": 19336,
"hgvs_c": "n.4279G>A",
"hgvs_p": null,
"transcript": "XR_942390.4",
"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_942390.4"
},
{
"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": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHPRH",
"gene_hgnc_id": 19336,
"hgvs_c": "n.4279G>A",
"hgvs_p": null,
"transcript": "XR_942393.4",
"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_942393.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHPRH",
"gene_hgnc_id": 19336,
"hgvs_c": "n.*929G>A",
"hgvs_p": null,
"transcript": "ENST00000519632.5",
"protein_id": "ENSP00000430528.1",
"transcript_support_level": 5,
"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": "ENST00000519632.5"
}
],
"gene_symbol": "SHPRH",
"gene_hgnc_id": 19336,
"dbsnp": "rs1248378477",
"frequency_reference_population": 6.845274e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84527e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.529470682144165,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.379,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.7229,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.16,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.683,
"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": 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_001042683.3",
"gene_symbol": "SHPRH",
"hgnc_id": 19336,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4045G>A",
"hgvs_p": "p.Val1349Met"
}
],
"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
}