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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: 19-5925722-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=5925722&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 5925722,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_007322.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RANBP3",
"gene_hgnc_id": 9850,
"hgvs_c": "c.829G>A",
"hgvs_p": "p.Val277Met",
"transcript": "NM_007322.3",
"protein_id": "NP_015561.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 567,
"cds_start": 829,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000340578.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007322.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RANBP3",
"gene_hgnc_id": 9850,
"hgvs_c": "c.829G>A",
"hgvs_p": "p.Val277Met",
"transcript": "ENST00000340578.10",
"protein_id": "ENSP00000341483.5",
"transcript_support_level": 1,
"aa_start": 277,
"aa_end": null,
"aa_length": 567,
"cds_start": 829,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_007322.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340578.10"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RANBP3",
"gene_hgnc_id": 9850,
"hgvs_c": "c.814G>A",
"hgvs_p": "p.Val272Met",
"transcript": "ENST00000439268.6",
"protein_id": "ENSP00000404837.1",
"transcript_support_level": 1,
"aa_start": 272,
"aa_end": null,
"aa_length": 562,
"cds_start": 814,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439268.6"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RANBP3",
"gene_hgnc_id": 9850,
"hgvs_c": "c.625G>A",
"hgvs_p": "p.Val209Met",
"transcript": "ENST00000034275.12",
"protein_id": "ENSP00000034275.7",
"transcript_support_level": 1,
"aa_start": 209,
"aa_end": null,
"aa_length": 499,
"cds_start": 625,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000034275.12"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RANBP3",
"gene_hgnc_id": 9850,
"hgvs_c": "c.610G>A",
"hgvs_p": "p.Val204Met",
"transcript": "ENST00000591092.5",
"protein_id": "ENSP00000465085.1",
"transcript_support_level": 1,
"aa_start": 204,
"aa_end": null,
"aa_length": 494,
"cds_start": 610,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591092.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RANBP3",
"gene_hgnc_id": 9850,
"hgvs_c": "n.1131G>A",
"hgvs_p": null,
"transcript": "ENST00000587411.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000587411.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RANBP3",
"gene_hgnc_id": 9850,
"hgvs_c": "n.*540G>A",
"hgvs_p": null,
"transcript": "ENST00000592771.5",
"protein_id": "ENSP00000466879.1",
"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": "ENST00000592771.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RANBP3",
"gene_hgnc_id": 9850,
"hgvs_c": "n.*540G>A",
"hgvs_p": null,
"transcript": "ENST00000592771.5",
"protein_id": "ENSP00000466879.1",
"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": "ENST00000592771.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RANBP3",
"gene_hgnc_id": 9850,
"hgvs_c": "c.-15G>A",
"hgvs_p": null,
"transcript": "ENST00000592621.5",
"protein_id": "ENSP00000468815.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 121,
"cds_start": null,
"cds_end": null,
"cds_length": 366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592621.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RANBP3",
"gene_hgnc_id": 9850,
"hgvs_c": "c.-15G>A",
"hgvs_p": null,
"transcript": "ENST00000590623.5",
"protein_id": "ENSP00000466510.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 50,
"cds_start": null,
"cds_end": null,
"cds_length": 153,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590623.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RANBP3",
"gene_hgnc_id": 9850,
"hgvs_c": "c.-15G>A",
"hgvs_p": null,
"transcript": "XM_011528393.2",
"protein_id": "XP_011526695.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 286,
"cds_start": null,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011528393.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RANBP3",
"gene_hgnc_id": 9850,
"hgvs_c": "c.-15G>A",
"hgvs_p": null,
"transcript": "XM_011528394.2",
"protein_id": "XP_011526696.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 286,
"cds_start": null,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011528394.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RANBP3",
"gene_hgnc_id": 9850,
"hgvs_c": "c.-15G>A",
"hgvs_p": null,
"transcript": "XM_047439571.1",
"protein_id": "XP_047295527.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 286,
"cds_start": null,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439571.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RANBP3",
"gene_hgnc_id": 9850,
"hgvs_c": "c.-15G>A",
"hgvs_p": null,
"transcript": "XM_047439572.1",
"protein_id": "XP_047295528.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 286,
"cds_start": null,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439572.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RANBP3",
"gene_hgnc_id": 9850,
"hgvs_c": "c.-15G>A",
"hgvs_p": null,
"transcript": "XM_047439573.1",
"protein_id": "XP_047295529.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 286,
"cds_start": null,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439573.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RANBP3",
"gene_hgnc_id": 9850,
"hgvs_c": "c.-15G>A",
"hgvs_p": null,
"transcript": "XM_047439574.1",
"protein_id": "XP_047295530.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 286,
"cds_start": null,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439574.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RANBP3",
"gene_hgnc_id": 9850,
"hgvs_c": "c.-15G>A",
"hgvs_p": null,
"transcript": "XM_047439575.1",
"protein_id": "XP_047295531.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 286,
"cds_start": null,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439575.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RANBP3",
"gene_hgnc_id": 9850,
"hgvs_c": "c.-15G>A",
"hgvs_p": null,
"transcript": "XM_047439576.1",
"protein_id": "XP_047295532.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 286,
"cds_start": null,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439576.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RANBP3",
"gene_hgnc_id": 9850,
"hgvs_c": "c.-15G>A",
"hgvs_p": null,
"transcript": "XM_047439577.1",
"protein_id": "XP_047295533.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 286,
"cds_start": null,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439577.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RANBP3",
"gene_hgnc_id": 9850,
"hgvs_c": "c.814G>A",
"hgvs_p": "p.Val272Met",
"transcript": "NM_003624.3",
"protein_id": "NP_003615.2",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 562,
"cds_start": 814,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003624.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RANBP3",
"gene_hgnc_id": 9850,
"hgvs_c": "c.625G>A",
"hgvs_p": "p.Val209Met",
"transcript": "NM_007320.3",
"protein_id": "NP_015559.2",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 499,
"cds_start": 625,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007320.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RANBP3",
"gene_hgnc_id": 9850,
"hgvs_c": "c.622G>A",
"hgvs_p": "p.Val208Met",
"transcript": "ENST00000852125.1",
"protein_id": "ENSP00000522184.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 498,
"cds_start": 622,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
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"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
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"exon_count": 15,
"intron_rank": null,
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"transcript": "XM_047439577.1",
"protein_id": "XP_047295533.1",
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"aa_start": null,
"aa_end": null,
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"biotype": "protein_coding",
"feature": "XM_047439577.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 8,
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"gene_symbol": "RANBP3",
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"hgvs_c": "c.609+2246G>A",
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"transcript": "ENST00000852123.1",
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"cds_length": 1104,
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"biotype": "protein_coding",
"feature": "ENST00000852123.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 5,
"intron_rank": 1,
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"gene_symbol": "RANBP3",
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"hgvs_c": "c.1-4401G>A",
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"transcript": "ENST00000587479.2",
"protein_id": "ENSP00000464774.1",
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"aa_end": null,
"aa_length": 154,
"cds_start": null,
"cds_end": null,
"cds_length": 465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000587479.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
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"gene_symbol": "RANBP3",
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"hgvs_c": "n.1391G>A",
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"transcript": "ENST00000586344.5",
"protein_id": null,
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"aa_end": null,
"aa_length": null,
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"cds_end": null,
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"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000586344.5"
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{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
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"gene_symbol": "RANBP3",
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"hgvs_c": "n.44G>A",
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"transcript": "ENST00000587799.1",
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"transcript_support_level": 2,
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"cds_end": null,
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"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000587799.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RANBP3",
"gene_hgnc_id": 9850,
"hgvs_c": "n.493G>A",
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"transcript": "ENST00000593025.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000593025.1"
}
],
"gene_symbol": "RANBP3",
"gene_hgnc_id": 9850,
"dbsnp": "rs199697489",
"frequency_reference_population": 0.00037676314,
"hom_count_reference_population": 1,
"allele_count_reference_population": 608,
"gnomad_exomes_af": 0.000394041,
"gnomad_genomes_af": 0.000210568,
"gnomad_exomes_ac": 576,
"gnomad_genomes_ac": 32,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.025848597288131714,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.051,
"revel_prediction": "Benign",
"alphamissense_score": 0.0706,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.85,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.81,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_007322.3",
"gene_symbol": "RANBP3",
"hgnc_id": 9850,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.829G>A",
"hgvs_p": "p.Val277Met"
}
],
"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
}