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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: 5-74721687-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=74721687&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 74721687,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001281302.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFM2",
"gene_hgnc_id": 29682,
"hgvs_c": "c.2308A>G",
"hgvs_p": "p.Thr770Ala",
"transcript": "NM_032380.5",
"protein_id": "NP_115756.2",
"transcript_support_level": null,
"aa_start": 770,
"aa_end": null,
"aa_length": 779,
"cds_start": 2308,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 2512,
"cdna_end": null,
"cdna_length": 2993,
"mane_select": "ENST00000296805.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032380.5"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFM2",
"gene_hgnc_id": 29682,
"hgvs_c": "c.2308A>G",
"hgvs_p": "p.Thr770Ala",
"transcript": "ENST00000296805.8",
"protein_id": "ENSP00000296805.3",
"transcript_support_level": 1,
"aa_start": 770,
"aa_end": null,
"aa_length": 779,
"cds_start": 2308,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 2512,
"cdna_end": null,
"cdna_length": 2993,
"mane_select": "NM_032380.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000296805.8"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFM2",
"gene_hgnc_id": 29682,
"hgvs_c": "c.2308A>G",
"hgvs_p": "p.Thr770Ala",
"transcript": "ENST00000509430.5",
"protein_id": "ENSP00000427004.1",
"transcript_support_level": 1,
"aa_start": 770,
"aa_end": null,
"aa_length": 779,
"cds_start": 2308,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 2618,
"cdna_end": null,
"cdna_length": 3047,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000509430.5"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFM2",
"gene_hgnc_id": 29682,
"hgvs_c": "c.2167A>G",
"hgvs_p": "p.Thr723Ala",
"transcript": "ENST00000345239.6",
"protein_id": "ENSP00000296804.3",
"transcript_support_level": 1,
"aa_start": 723,
"aa_end": null,
"aa_length": 732,
"cds_start": 2167,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 2375,
"cdna_end": null,
"cdna_length": 2856,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000345239.6"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFM2",
"gene_hgnc_id": 29682,
"hgvs_c": "c.2404A>G",
"hgvs_p": "p.Thr802Ala",
"transcript": "NM_001281302.2",
"protein_id": "NP_001268231.1",
"transcript_support_level": null,
"aa_start": 802,
"aa_end": null,
"aa_length": 811,
"cds_start": 2404,
"cds_end": null,
"cds_length": 2436,
"cdna_start": 2630,
"cdna_end": null,
"cdna_length": 3111,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001281302.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFM2",
"gene_hgnc_id": 29682,
"hgvs_c": "c.2308A>G",
"hgvs_p": "p.Thr770Ala",
"transcript": "ENST00000905367.1",
"protein_id": "ENSP00000575426.1",
"transcript_support_level": null,
"aa_start": 770,
"aa_end": null,
"aa_length": 779,
"cds_start": 2308,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 2885,
"cdna_end": null,
"cdna_length": 3314,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905367.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFM2",
"gene_hgnc_id": 29682,
"hgvs_c": "c.2308A>G",
"hgvs_p": "p.Thr770Ala",
"transcript": "ENST00000905369.1",
"protein_id": "ENSP00000575428.1",
"transcript_support_level": null,
"aa_start": 770,
"aa_end": null,
"aa_length": 779,
"cds_start": 2308,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 2765,
"cdna_end": null,
"cdna_length": 3194,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905369.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFM2",
"gene_hgnc_id": 29682,
"hgvs_c": "c.2308A>G",
"hgvs_p": "p.Thr770Ala",
"transcript": "ENST00000905370.1",
"protein_id": "ENSP00000575429.1",
"transcript_support_level": null,
"aa_start": 770,
"aa_end": null,
"aa_length": 779,
"cds_start": 2308,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 2953,
"cdna_end": null,
"cdna_length": 3382,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905370.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFM2",
"gene_hgnc_id": 29682,
"hgvs_c": "c.2308A>G",
"hgvs_p": "p.Thr770Ala",
"transcript": "ENST00000905371.1",
"protein_id": "ENSP00000575430.1",
"transcript_support_level": null,
"aa_start": 770,
"aa_end": null,
"aa_length": 779,
"cds_start": 2308,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 2841,
"cdna_end": null,
"cdna_length": 3264,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905371.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFM2",
"gene_hgnc_id": 29682,
"hgvs_c": "c.2308A>G",
"hgvs_p": "p.Thr770Ala",
"transcript": "ENST00000905373.1",
"protein_id": "ENSP00000575432.1",
"transcript_support_level": null,
"aa_start": 770,
"aa_end": null,
"aa_length": 779,
"cds_start": 2308,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 2516,
"cdna_end": null,
"cdna_length": 2939,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905373.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFM2",
"gene_hgnc_id": 29682,
"hgvs_c": "c.2308A>G",
"hgvs_p": "p.Thr770Ala",
"transcript": "ENST00000925461.1",
"protein_id": "ENSP00000595520.1",
"transcript_support_level": null,
"aa_start": 770,
"aa_end": null,
"aa_length": 779,
"cds_start": 2308,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 2519,
"cdna_end": null,
"cdna_length": 2948,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925461.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFM2",
"gene_hgnc_id": 29682,
"hgvs_c": "c.2308A>G",
"hgvs_p": "p.Thr770Ala",
"transcript": "ENST00000925463.1",
"protein_id": "ENSP00000595522.1",
"transcript_support_level": null,
"aa_start": 770,
"aa_end": null,
"aa_length": 779,
"cds_start": 2308,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 2502,
"cdna_end": null,
"cdna_length": 2931,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925463.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFM2",
"gene_hgnc_id": 29682,
"hgvs_c": "c.2308A>G",
"hgvs_p": "p.Thr770Ala",
"transcript": "ENST00000925464.1",
"protein_id": "ENSP00000595523.1",
"transcript_support_level": null,
"aa_start": 770,
"aa_end": null,
"aa_length": 779,
"cds_start": 2308,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 2691,
"cdna_end": null,
"cdna_length": 3120,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925464.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFM2",
"gene_hgnc_id": 29682,
"hgvs_c": "c.2173A>G",
"hgvs_p": "p.Thr725Ala",
"transcript": "ENST00000905366.1",
"protein_id": "ENSP00000575425.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 734,
"cds_start": 2173,
"cds_end": null,
"cds_length": 2205,
"cdna_start": 2396,
"cdna_end": null,
"cdna_length": 2877,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905366.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFM2",
"gene_hgnc_id": 29682,
"hgvs_c": "c.2167A>G",
"hgvs_p": "p.Thr723Ala",
"transcript": "NM_170691.3",
"protein_id": "NP_733792.1",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
"aa_length": 732,
"cds_start": 2167,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 2371,
"cdna_end": null,
"cdna_length": 2852,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_170691.3"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFM2",
"gene_hgnc_id": 29682,
"hgvs_c": "c.2167A>G",
"hgvs_p": "p.Thr723Ala",
"transcript": "ENST00000958297.1",
"protein_id": "ENSP00000628356.1",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
"aa_length": 732,
"cds_start": 2167,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 2389,
"cdna_end": null,
"cdna_length": 2812,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958297.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFM2",
"gene_hgnc_id": 29682,
"hgvs_c": "c.2167A>G",
"hgvs_p": "p.Thr723Ala",
"transcript": "ENST00000958298.1",
"protein_id": "ENSP00000628357.1",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
"aa_length": 732,
"cds_start": 2167,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 2441,
"cdna_end": null,
"cdna_length": 2862,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958298.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFM2",
"gene_hgnc_id": 29682,
"hgvs_c": "c.2152A>G",
"hgvs_p": "p.Thr718Ala",
"transcript": "ENST00000925462.1",
"protein_id": "ENSP00000595521.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 727,
"cds_start": 2152,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 2358,
"cdna_end": null,
"cdna_length": 2787,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925462.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFM2",
"gene_hgnc_id": 29682,
"hgvs_c": "c.2092A>G",
"hgvs_p": "p.Thr698Ala",
"transcript": "ENST00000958296.1",
"protein_id": "ENSP00000628355.1",
"transcript_support_level": null,
"aa_start": 698,
"aa_end": null,
"aa_length": 707,
"cds_start": 2092,
"cds_end": null,
"cds_length": 2124,
"cdna_start": 2322,
"cdna_end": null,
"cdna_length": 2802,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958296.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFM2",
"gene_hgnc_id": 29682,
"hgvs_c": "c.2032A>G",
"hgvs_p": "p.Thr678Ala",
"transcript": "ENST00000905368.1",
"protein_id": "ENSP00000575427.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 687,
"cds_start": 2032,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 2241,
"cdna_end": null,
"cdna_length": 2670,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905368.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFM2",
"gene_hgnc_id": 29682,
"hgvs_c": "c.1867A>G",
"hgvs_p": "p.Thr623Ala",
"transcript": "ENST00000905372.1",
"protein_id": "ENSP00000575431.1",
"transcript_support_level": null,
"aa_start": 623,
"aa_end": null,
"aa_length": 632,
"cds_start": 1867,
"cds_end": null,
"cds_length": 1899,
"cdna_start": 2066,
"cdna_end": null,
"cdna_length": 2495,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905372.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFM2",
"gene_hgnc_id": 29682,
"hgvs_c": "c.2308A>G",
"hgvs_p": "p.Thr770Ala",
"transcript": "XM_017009986.2",
"protein_id": "XP_016865475.1",
"transcript_support_level": null,
"aa_start": 770,
"aa_end": 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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],
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"dbsnp": "rs1162838536",
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"hom_count_reference_population": 0,
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"gnomad_genomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06684911251068115,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.129,
"revel_prediction": "Benign",
"alphamissense_score": 0.0566,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.63,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.029,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001281302.2",
"gene_symbol": "GFM2",
"hgnc_id": 29682,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2404A>G",
"hgvs_p": "p.Thr802Ala"
},
{
"score": -2,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000513867.1",
"gene_symbol": "HEXB",
"hgnc_id": 4879,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.380+251T>C",
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}
],
"clinvar_disease": "Inborn genetic diseases,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}