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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: 12-109783719-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=109783719&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 109783719,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000261740.7",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.2518G>A",
"hgvs_p": "p.Glu840Lys",
"transcript": "NM_021625.5",
"protein_id": "NP_067638.3",
"transcript_support_level": null,
"aa_start": 840,
"aa_end": null,
"aa_length": 871,
"cds_start": 2518,
"cds_end": null,
"cds_length": 2616,
"cdna_start": 2598,
"cdna_end": null,
"cdna_length": 3228,
"mane_select": "ENST00000261740.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.2518G>A",
"hgvs_p": "p.Glu840Lys",
"transcript": "ENST00000261740.7",
"protein_id": "ENSP00000261740.2",
"transcript_support_level": 1,
"aa_start": 840,
"aa_end": null,
"aa_length": 871,
"cds_start": 2518,
"cds_end": null,
"cds_length": 2616,
"cdna_start": 2598,
"cdna_end": null,
"cdna_length": 3228,
"mane_select": "NM_021625.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.2518G>A",
"hgvs_p": "p.Glu840Lys",
"transcript": "ENST00000418703.7",
"protein_id": "ENSP00000406191.2",
"transcript_support_level": 1,
"aa_start": 840,
"aa_end": null,
"aa_length": 871,
"cds_start": 2518,
"cds_end": null,
"cds_length": 2616,
"cdna_start": 2613,
"cdna_end": null,
"cdna_length": 3245,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.2416G>A",
"hgvs_p": "p.Glu806Lys",
"transcript": "ENST00000536838.1",
"protein_id": "ENSP00000444336.1",
"transcript_support_level": 1,
"aa_start": 806,
"aa_end": null,
"aa_length": 837,
"cds_start": 2416,
"cds_end": null,
"cds_length": 2514,
"cdna_start": 2416,
"cdna_end": null,
"cdna_length": 2514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.2377G>A",
"hgvs_p": "p.Glu793Lys",
"transcript": "ENST00000541794.5",
"protein_id": "ENSP00000442167.1",
"transcript_support_level": 1,
"aa_start": 793,
"aa_end": null,
"aa_length": 824,
"cds_start": 2377,
"cds_end": null,
"cds_length": 2475,
"cdna_start": 2377,
"cdna_end": null,
"cdna_length": 2475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.2338G>A",
"hgvs_p": "p.Glu780Lys",
"transcript": "ENST00000537083.5",
"protein_id": "ENSP00000442738.1",
"transcript_support_level": 1,
"aa_start": 780,
"aa_end": null,
"aa_length": 811,
"cds_start": 2338,
"cds_end": null,
"cds_length": 2436,
"cdna_start": 2338,
"cdna_end": null,
"cdna_length": 2436,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.2197G>A",
"hgvs_p": "p.Glu733Lys",
"transcript": "ENST00000544971.5",
"protein_id": "ENSP00000443611.1",
"transcript_support_level": 1,
"aa_start": 733,
"aa_end": null,
"aa_length": 764,
"cds_start": 2197,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 2197,
"cdna_end": null,
"cdna_length": 2295,
"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": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "n.*901G>A",
"hgvs_p": null,
"transcript": "ENST00000538125.5",
"protein_id": "ENSP00000437449.1",
"transcript_support_level": 1,
"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": 2804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "n.*901G>A",
"hgvs_p": null,
"transcript": "ENST00000538125.5",
"protein_id": "ENSP00000437449.1",
"transcript_support_level": 1,
"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": 2804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.2518G>A",
"hgvs_p": "p.Glu840Lys",
"transcript": "ENST00000675670.1",
"protein_id": "ENSP00000502135.1",
"transcript_support_level": null,
"aa_start": 840,
"aa_end": null,
"aa_length": 871,
"cds_start": 2518,
"cds_end": null,
"cds_length": 2616,
"cdna_start": 2967,
"cdna_end": null,
"cdna_length": 3597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.2416G>A",
"hgvs_p": "p.Glu806Lys",
"transcript": "NM_001177431.1",
"protein_id": "NP_001170902.1",
"transcript_support_level": null,
"aa_start": 806,
"aa_end": null,
"aa_length": 837,
"cds_start": 2416,
"cds_end": null,
"cds_length": 2514,
"cdna_start": 2416,
"cdna_end": null,
"cdna_length": 3048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.2377G>A",
"hgvs_p": "p.Glu793Lys",
"transcript": "NM_001177428.1",
"protein_id": "NP_001170899.1",
"transcript_support_level": null,
"aa_start": 793,
"aa_end": null,
"aa_length": 824,
"cds_start": 2377,
"cds_end": null,
"cds_length": 2475,
"cdna_start": 2408,
"cdna_end": null,
"cdna_length": 3040,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.2338G>A",
"hgvs_p": "p.Glu780Lys",
"transcript": "NM_147204.2",
"protein_id": "NP_671737.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 811,
"cds_start": 2338,
"cds_end": null,
"cds_length": 2436,
"cdna_start": 2369,
"cdna_end": null,
"cdna_length": 3001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.2197G>A",
"hgvs_p": "p.Glu733Lys",
"transcript": "NM_001177433.1",
"protein_id": "NP_001170904.1",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 764,
"cds_start": 2197,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 2228,
"cdna_end": null,
"cdna_length": 2860,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.2671G>A",
"hgvs_p": "p.Glu891Lys",
"transcript": "XM_011538630.3",
"protein_id": "XP_011536932.2",
"transcript_support_level": null,
"aa_start": 891,
"aa_end": null,
"aa_length": 922,
"cds_start": 2671,
"cds_end": null,
"cds_length": 2769,
"cdna_start": 3709,
"cdna_end": null,
"cdna_length": 4341,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.2530G>A",
"hgvs_p": "p.Glu844Lys",
"transcript": "XM_011538631.3",
"protein_id": "XP_011536933.2",
"transcript_support_level": null,
"aa_start": 844,
"aa_end": null,
"aa_length": 875,
"cds_start": 2530,
"cds_end": null,
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"cdna_start": 3568,
"cdna_end": null,
"cdna_length": 4200,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.2518G>A",
"hgvs_p": "p.Glu840Lys",
"transcript": "XM_017019774.2",
"protein_id": "XP_016875263.1",
"transcript_support_level": null,
"aa_start": 840,
"aa_end": null,
"aa_length": 871,
"cds_start": 2518,
"cds_end": null,
"cds_length": 2616,
"cdna_start": 3342,
"cdna_end": null,
"cdna_length": 3974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.2491G>A",
"hgvs_p": "p.Glu831Lys",
"transcript": "XM_011538632.3",
"protein_id": "XP_011536934.2",
"transcript_support_level": null,
"aa_start": 831,
"aa_end": null,
"aa_length": 862,
"cds_start": 2491,
"cds_end": null,
"cds_length": 2589,
"cdna_start": 3529,
"cdna_end": null,
"cdna_length": 4161,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.2377G>A",
"hgvs_p": "p.Glu793Lys",
"transcript": "XM_047429293.1",
"protein_id": "XP_047285249.1",
"transcript_support_level": null,
"aa_start": 793,
"aa_end": null,
"aa_length": 824,
"cds_start": 2377,
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"cdna_start": 2457,
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"cdna_length": 3089,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.2350G>A",
"hgvs_p": "p.Glu784Lys",
"transcript": "XM_011538633.3",
"protein_id": "XP_011536935.2",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 815,
"cds_start": 2350,
"cds_end": null,
"cds_length": 2448,
"cdna_start": 3389,
"cdna_end": null,
"cdna_length": 4021,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.2338G>A",
"hgvs_p": "p.Glu780Lys",
"transcript": "XM_047429294.1",
"protein_id": "XP_047285250.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 811,
"cds_start": 2338,
"cds_end": null,
"cds_length": 2436,
"cdna_start": 2418,
"cdna_end": null,
"cdna_length": 3050,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.2197G>A",
"hgvs_p": "p.Glu733Lys",
"transcript": "XM_047429295.1",
"protein_id": "XP_047285251.1",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 764,
"cds_start": 2197,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 2277,
"cdna_end": null,
"cdna_length": 2909,
"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": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "n.*1605G>A",
"hgvs_p": null,
"transcript": "ENST00000674908.1",
"protein_id": "ENSP00000502012.1",
"transcript_support_level": null,
"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": 3266,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "n.*1605G>A",
"hgvs_p": null,
"transcript": "ENST00000674908.1",
"protein_id": "ENSP00000502012.1",
"transcript_support_level": null,
"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": 3266,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"dbsnp": "rs55728855",
"frequency_reference_population": 0.010054234,
"hom_count_reference_population": 104,
"allele_count_reference_population": 16225,
"gnomad_exomes_af": 0.010378,
"gnomad_genomes_af": 0.00694481,
"gnomad_exomes_ac": 15168,
"gnomad_genomes_ac": 1057,
"gnomad_exomes_homalt": 98,
"gnomad_genomes_homalt": 6,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.007524043321609497,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.278,
"revel_prediction": "Benign",
"alphamissense_score": 0.2301,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.19,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.343,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000261740.7",
"gene_symbol": "TRPV4",
"hgnc_id": 18083,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2518G>A",
"hgvs_p": "p.Glu840Lys"
}
],
"clinvar_disease": " Kozlowski type, autosomal dominant 8, distal hereditary motor,Brachyrachia (short spine dysplasia),Charcot-Marie-Tooth disease,Charcot-Marie-Tooth disease axonal type 2C,Connective tissue disorder,Inborn genetic diseases,Metatropic dysplasia,Neuronopathy,Scapuloperoneal spinal muscular atrophy,Spondylometaphyseal dysplasia,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 B:14",
"phenotype_combined": "not specified|Metatropic dysplasia|Scapuloperoneal spinal muscular atrophy|Brachyrachia (short spine dysplasia)|not provided|Neuronopathy, distal hereditary motor, autosomal dominant 8|Spondylometaphyseal dysplasia, Kozlowski type|Connective tissue disorder|Charcot-Marie-Tooth disease axonal type 2C|Charcot-Marie-Tooth disease|Inborn genetic diseases",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}