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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: 2-120019215-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=120019215&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 120019215,
"ref": "C",
"alt": "T",
"effect": "5_prime_UTR_premature_start_codon_gain_variant",
"transcript": "NM_001330307.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L5",
"gene_hgnc_id": 19819,
"hgvs_c": "c.131C>T",
"hgvs_p": "p.Thr44Met",
"transcript": "NM_020909.4",
"protein_id": "NP_065960.2",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 733,
"cds_start": 131,
"cds_end": null,
"cds_length": 2202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000263713.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020909.4"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L5",
"gene_hgnc_id": 19819,
"hgvs_c": "c.131C>T",
"hgvs_p": "p.Thr44Met",
"transcript": "ENST00000263713.10",
"protein_id": "ENSP00000263713.5",
"transcript_support_level": 1,
"aa_start": 44,
"aa_end": null,
"aa_length": 733,
"cds_start": 131,
"cds_end": null,
"cds_length": 2202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020909.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263713.10"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L5",
"gene_hgnc_id": 19819,
"hgvs_c": "c.131C>T",
"hgvs_p": "p.Thr44Met",
"transcript": "ENST00000443124.5",
"protein_id": "ENSP00000393722.1",
"transcript_support_level": 1,
"aa_start": 44,
"aa_end": null,
"aa_length": 505,
"cds_start": 131,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000443124.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L5",
"gene_hgnc_id": 19819,
"hgvs_c": "c.-90C>T",
"hgvs_p": null,
"transcript": "NM_001330307.2",
"protein_id": "NP_001317236.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 433,
"cds_start": null,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330307.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L5",
"gene_hgnc_id": 19819,
"hgvs_c": "c.-90C>T",
"hgvs_p": null,
"transcript": "XM_006712653.2",
"protein_id": "XP_006712716.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 668,
"cds_start": null,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712653.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L5",
"gene_hgnc_id": 19819,
"hgvs_c": "c.131C>T",
"hgvs_p": "p.Thr44Met",
"transcript": "ENST00000851970.1",
"protein_id": "ENSP00000522029.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 740,
"cds_start": 131,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851970.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L5",
"gene_hgnc_id": 19819,
"hgvs_c": "c.131C>T",
"hgvs_p": "p.Thr44Met",
"transcript": "ENST00000851976.1",
"protein_id": "ENSP00000522035.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 733,
"cds_start": 131,
"cds_end": null,
"cds_length": 2202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851976.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L5",
"gene_hgnc_id": 19819,
"hgvs_c": "c.131C>T",
"hgvs_p": "p.Thr44Met",
"transcript": "NM_001330310.2",
"protein_id": "NP_001317239.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 732,
"cds_start": 131,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330310.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L5",
"gene_hgnc_id": 19819,
"hgvs_c": "c.131C>T",
"hgvs_p": "p.Thr44Met",
"transcript": "ENST00000452780.1",
"protein_id": "ENSP00000390439.1",
"transcript_support_level": 5,
"aa_start": 44,
"aa_end": null,
"aa_length": 732,
"cds_start": 131,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452780.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L5",
"gene_hgnc_id": 19819,
"hgvs_c": "c.131C>T",
"hgvs_p": "p.Thr44Met",
"transcript": "ENST00000851973.1",
"protein_id": "ENSP00000522032.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 719,
"cds_start": 131,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851973.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L5",
"gene_hgnc_id": 19819,
"hgvs_c": "c.131C>T",
"hgvs_p": "p.Thr44Met",
"transcript": "ENST00000851971.1",
"protein_id": "ENSP00000522030.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 708,
"cds_start": 131,
"cds_end": null,
"cds_length": 2127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851971.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L5",
"gene_hgnc_id": 19819,
"hgvs_c": "c.131C>T",
"hgvs_p": "p.Thr44Met",
"transcript": "ENST00000911772.1",
"protein_id": "ENSP00000581831.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 707,
"cds_start": 131,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911772.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L5",
"gene_hgnc_id": 19819,
"hgvs_c": "c.131C>T",
"hgvs_p": "p.Thr44Met",
"transcript": "ENST00000851972.1",
"protein_id": "ENSP00000522031.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 698,
"cds_start": 131,
"cds_end": null,
"cds_length": 2097,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851972.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L5",
"gene_hgnc_id": 19819,
"hgvs_c": "c.131C>T",
"hgvs_p": "p.Thr44Met",
"transcript": "ENST00000851974.1",
"protein_id": "ENSP00000522033.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 697,
"cds_start": 131,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851974.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L5",
"gene_hgnc_id": 19819,
"hgvs_c": "c.131C>T",
"hgvs_p": "p.Thr44Met",
"transcript": "NM_001184937.2",
"protein_id": "NP_001171866.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 687,
"cds_start": 131,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001184937.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L5",
"gene_hgnc_id": 19819,
"hgvs_c": "c.131C>T",
"hgvs_p": "p.Thr44Met",
"transcript": "ENST00000443902.6",
"protein_id": "ENSP00000393856.2",
"transcript_support_level": 2,
"aa_start": 44,
"aa_end": null,
"aa_length": 687,
"cds_start": 131,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000443902.6"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L5",
"gene_hgnc_id": 19819,
"hgvs_c": "c.131C>T",
"hgvs_p": "p.Thr44Met",
"transcript": "ENST00000851975.1",
"protein_id": "ENSP00000522034.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 521,
"cds_start": 131,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851975.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L5",
"gene_hgnc_id": 19819,
"hgvs_c": "c.131C>T",
"hgvs_p": "p.Thr44Met",
"transcript": "NM_001184938.4",
"protein_id": "NP_001171867.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 505,
"cds_start": 131,
"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": "NM_001184938.4"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L5",
"gene_hgnc_id": 19819,
"hgvs_c": "c.131C>T",
"hgvs_p": "p.Thr44Met",
"transcript": "NM_001184939.3",
"protein_id": "NP_001171868.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 505,
"cds_start": 131,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001184939.3"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L5",
"gene_hgnc_id": 19819,
"hgvs_c": "c.131C>T",
"hgvs_p": "p.Thr44Met",
"transcript": "ENST00000331393.8",
"protein_id": "ENSP00000329687.4",
"transcript_support_level": 2,
"aa_start": 44,
"aa_end": null,
"aa_length": 505,
"cds_start": 131,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000331393.8"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L5",
"gene_hgnc_id": 19819,
"hgvs_c": "c.131C>T",
"hgvs_p": "p.Thr44Met",
"transcript": "XM_006712651.2",
"protein_id": "XP_006712714.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 740,
"cds_start": 131,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712651.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPB41L5",
"gene_hgnc_id": 19819,
"hgvs_c": "c.131C>T",
"hgvs_p": "p.Thr44Met",
"transcript": "XM_017004567.1",
"protein_id": "XP_016860056.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 740,
"cds_start": 131,
"cds_end": null,
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"cdna_start": null,
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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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{
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},
{
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],
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"gene_symbol": "EPB41L5",
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"biotype": "pseudogene",
"feature": "NR_138472.2"
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],
"gene_symbol": "EPB41L5",
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"dbsnp": "rs143727058",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 55,
"gnomad_exomes_af": 0.0000273625,
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"gnomad_exomes_ac": 40,
"gnomad_genomes_ac": 15,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5804076790809631,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.53,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1784,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.374,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_001330307.2",
"gene_symbol": "EPB41L5",
"hgnc_id": 19819,
"effects": [
"5_prime_UTR_premature_start_codon_gain_variant"
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"inheritance_mode": "AR",
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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
}