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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: 17-4967789-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=4967789&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 4967789,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_004890.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG7",
"gene_hgnc_id": 11216,
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Gly6Ser",
"transcript": "NM_004890.3",
"protein_id": "NP_004881.2",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 227,
"cds_start": 16,
"cds_end": null,
"cds_length": 684,
"cdna_start": 29,
"cdna_end": null,
"cdna_length": 1005,
"mane_select": "ENST00000206020.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG7",
"gene_hgnc_id": 11216,
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Gly6Ser",
"transcript": "ENST00000206020.8",
"protein_id": "ENSP00000206020.3",
"transcript_support_level": 1,
"aa_start": 6,
"aa_end": null,
"aa_length": 227,
"cds_start": 16,
"cds_end": null,
"cds_length": 684,
"cdna_start": 29,
"cdna_end": null,
"cdna_length": 1005,
"mane_select": "NM_004890.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG7",
"gene_hgnc_id": 11216,
"hgvs_c": "c.-18G>A",
"hgvs_p": null,
"transcript": "ENST00000575142.5",
"protein_id": "ENSP00000461145.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 194,
"cds_start": -4,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1094,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG7",
"gene_hgnc_id": 11216,
"hgvs_c": "n.20G>A",
"hgvs_p": null,
"transcript": "ENST00000571023.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG7",
"gene_hgnc_id": 11216,
"hgvs_c": "n.-18G>A",
"hgvs_p": null,
"transcript": "ENST00000575784.2",
"protein_id": "ENSP00000458264.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG7",
"gene_hgnc_id": 11216,
"hgvs_c": "n.-18G>A",
"hgvs_p": null,
"transcript": "ENST00000575784.2",
"protein_id": "ENSP00000458264.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA2",
"gene_hgnc_id": 18807,
"hgvs_c": "c.*967G>A",
"hgvs_p": null,
"transcript": "NM_015099.4",
"protein_id": "NP_055914.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1202,
"cds_start": -4,
"cds_end": null,
"cds_length": 3609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4515,
"mane_select": "ENST00000348066.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA2",
"gene_hgnc_id": 18807,
"hgvs_c": "c.*967G>A",
"hgvs_p": null,
"transcript": "ENST00000348066.8",
"protein_id": "ENSP00000321813.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1202,
"cds_start": -4,
"cds_end": null,
"cds_length": 3609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4515,
"mane_select": "NM_015099.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA2",
"gene_hgnc_id": 18807,
"hgvs_c": "c.*917G>A",
"hgvs_p": null,
"transcript": "ENST00000414043.7",
"protein_id": "ENSP00000412886.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1241,
"cds_start": -4,
"cds_end": null,
"cds_length": 3726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA2",
"gene_hgnc_id": 18807,
"hgvs_c": "c.*967G>A",
"hgvs_p": null,
"transcript": "ENST00000361571.9",
"protein_id": "ENSP00000354828.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1201,
"cds_start": -4,
"cds_end": null,
"cds_length": 3606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA2",
"gene_hgnc_id": 18807,
"hgvs_c": "c.*967G>A",
"hgvs_p": null,
"transcript": "ENST00000381311.9",
"protein_id": "ENSP00000370712.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1197,
"cds_start": -4,
"cds_end": null,
"cds_length": 3594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG7",
"gene_hgnc_id": 11216,
"hgvs_c": "n.-4G>A",
"hgvs_p": null,
"transcript": "ENST00000573805.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 495,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000262429",
"gene_hgnc_id": null,
"hgvs_c": "n.-206C>T",
"hgvs_p": null,
"transcript": "ENST00000576752.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 474,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC124900387",
"gene_hgnc_id": null,
"hgvs_c": "n.-76G>A",
"hgvs_p": null,
"transcript": "XR_007065587.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 1811,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA2",
"gene_hgnc_id": 18807,
"hgvs_c": "c.*917G>A",
"hgvs_p": null,
"transcript": "NM_001171167.2",
"protein_id": "NP_001164638.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1241,
"cds_start": -4,
"cds_end": null,
"cds_length": 3726,
"cdna_start": null,
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"cdna_length": 4938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA2",
"gene_hgnc_id": 18807,
"hgvs_c": "c.*967G>A",
"hgvs_p": null,
"transcript": "ENST00000572543.5",
"protein_id": "ENSP00000460779.1",
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": 1207,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA2",
"gene_hgnc_id": 18807,
"hgvs_c": "c.*967G>A",
"hgvs_p": null,
"transcript": "NM_001171168.2",
"protein_id": "NP_001164639.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1201,
"cds_start": -4,
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"cds_length": 3606,
"cdna_start": null,
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"cdna_length": 4868,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA2",
"gene_hgnc_id": 18807,
"hgvs_c": "c.*967G>A",
"hgvs_p": null,
"transcript": "NM_001171166.2",
"protein_id": "NP_001164637.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1197,
"cds_start": -4,
"cds_end": null,
"cds_length": 3594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4399,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA2",
"gene_hgnc_id": 18807,
"hgvs_c": "n.*4136G>A",
"hgvs_p": null,
"transcript": "ENST00000574951.5",
"protein_id": "ENSP00000458560.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA2",
"gene_hgnc_id": 18807,
"hgvs_c": "c.*967G>A",
"hgvs_p": null,
"transcript": "XM_011523746.4",
"protein_id": "XP_011522048.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1230,
"cds_start": -4,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA2",
"gene_hgnc_id": 18807,
"hgvs_c": "c.*967G>A",
"hgvs_p": null,
"transcript": "XM_011523747.4",
"protein_id": "XP_011522049.1",
"transcript_support_level": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA2",
"gene_hgnc_id": 18807,
"hgvs_c": "c.*967G>A",
"hgvs_p": null,
"transcript": "XM_011523748.4",
"protein_id": "XP_011522050.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1223,
"cds_start": -4,
"cds_end": null,
"cds_length": 3672,
"cdna_start": null,
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"cdna_length": 4934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA2",
"gene_hgnc_id": 18807,
"hgvs_c": "c.*967G>A",
"hgvs_p": null,
"transcript": "XM_011523749.4",
"protein_id": "XP_011522051.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1218,
"cds_start": -4,
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"cds_length": 3657,
"cdna_start": null,
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"cdna_length": 4919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA2",
"gene_hgnc_id": 18807,
"hgvs_c": "c.*967G>A",
"hgvs_p": null,
"transcript": "XM_006721478.5",
"protein_id": "XP_006721541.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1207,
"cds_start": -4,
"cds_end": null,
"cds_length": 3624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA2",
"gene_hgnc_id": 18807,
"hgvs_c": "c.*967G>A",
"hgvs_p": null,
"transcript": "XM_047435670.1",
"protein_id": "XP_047291626.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1194,
"cds_start": -4,
"cds_end": null,
"cds_length": 3585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4847,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMTA2",
"gene_hgnc_id": 18807,
"hgvs_c": "c.*967G>A",
"hgvs_p": null,
"transcript": "XM_006721482.4",
"protein_id": "XP_006721545.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1015,
"cds_start": -4,
"cds_end": null,
"cds_length": 3048,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SPAG7",
"gene_hgnc_id": 11216,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7640895843505859,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.341,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5268,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.09,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.974,
"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": 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_004890.3",
"gene_symbol": "SPAG7",
"hgnc_id": 11216,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Gly6Ser"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_015099.4",
"gene_symbol": "CAMTA2",
"hgnc_id": 18807,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.*967G>A",
"hgvs_p": null
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "XR_007065587.1",
"gene_symbol": "LOC124900387",
"hgnc_id": null,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-76G>A",
"hgvs_p": null
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000576752.1",
"gene_symbol": "ENSG00000262429",
"hgnc_id": null,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-206C>T",
"hgvs_p": null
}
],
"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
}