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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: 3-33798874-T-TGCGCC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=33798874&ref=T&alt=TGCGCC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 33798874,
"ref": "T",
"alt": "TGCGCC",
"effect": "frameshift_variant",
"transcript": "NM_001162429.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "AP?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD6IP",
"gene_hgnc_id": 8766,
"hgvs_c": "c.154_158dupGCCGC",
"hgvs_p": "p.Val54fs",
"transcript": "NM_013374.6",
"protein_id": "NP_037506.2",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 868,
"cds_start": 159,
"cds_end": null,
"cds_length": 2607,
"cdna_start": 258,
"cdna_end": null,
"cdna_length": 5884,
"mane_select": "ENST00000307296.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013374.6"
},
{
"aa_ref": "A",
"aa_alt": "AP?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD6IP",
"gene_hgnc_id": 8766,
"hgvs_c": "c.154_158dupGCCGC",
"hgvs_p": "p.Val54fs",
"transcript": "ENST00000307296.8",
"protein_id": "ENSP00000307387.3",
"transcript_support_level": 1,
"aa_start": 53,
"aa_end": null,
"aa_length": 868,
"cds_start": 159,
"cds_end": null,
"cds_length": 2607,
"cdna_start": 258,
"cdna_end": null,
"cdna_length": 5884,
"mane_select": "NM_013374.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000307296.8"
},
{
"aa_ref": "A",
"aa_alt": "AP?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD6IP",
"gene_hgnc_id": 8766,
"hgvs_c": "c.154_158dupGCCGC",
"hgvs_p": "p.Val54fs",
"transcript": "ENST00000457054.6",
"protein_id": "ENSP00000411825.2",
"transcript_support_level": 1,
"aa_start": 53,
"aa_end": null,
"aa_length": 873,
"cds_start": 159,
"cds_end": null,
"cds_length": 2622,
"cdna_start": 317,
"cdna_end": null,
"cdna_length": 5962,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457054.6"
},
{
"aa_ref": "A",
"aa_alt": "AP?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD6IP",
"gene_hgnc_id": 8766,
"hgvs_c": "c.154_158dupGCCGC",
"hgvs_p": "p.Val54fs",
"transcript": "ENST00000965906.1",
"protein_id": "ENSP00000635965.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 908,
"cds_start": 159,
"cds_end": null,
"cds_length": 2727,
"cdna_start": 298,
"cdna_end": null,
"cdna_length": 3340,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965906.1"
},
{
"aa_ref": "A",
"aa_alt": "AP?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD6IP",
"gene_hgnc_id": 8766,
"hgvs_c": "c.154_158dupGCCGC",
"hgvs_p": "p.Val54fs",
"transcript": "ENST00000965908.1",
"protein_id": "ENSP00000635967.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 903,
"cds_start": 159,
"cds_end": null,
"cds_length": 2712,
"cdna_start": 258,
"cdna_end": null,
"cdna_length": 3291,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965908.1"
},
{
"aa_ref": "A",
"aa_alt": "AP?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD6IP",
"gene_hgnc_id": 8766,
"hgvs_c": "c.154_158dupGCCGC",
"hgvs_p": "p.Val54fs",
"transcript": "NM_001162429.3",
"protein_id": "NP_001155901.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 873,
"cds_start": 159,
"cds_end": null,
"cds_length": 2622,
"cdna_start": 258,
"cdna_end": null,
"cdna_length": 5899,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001162429.3"
},
{
"aa_ref": "A",
"aa_alt": "AP?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD6IP",
"gene_hgnc_id": 8766,
"hgvs_c": "c.154_158dupGCCGC",
"hgvs_p": "p.Val54fs",
"transcript": "ENST00000866273.1",
"protein_id": "ENSP00000536332.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 867,
"cds_start": 159,
"cds_end": null,
"cds_length": 2604,
"cdna_start": 286,
"cdna_end": null,
"cdna_length": 3212,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866273.1"
},
{
"aa_ref": "A",
"aa_alt": "AP?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD6IP",
"gene_hgnc_id": 8766,
"hgvs_c": "c.154_158dupGCCGC",
"hgvs_p": "p.Val54fs",
"transcript": "ENST00000965903.1",
"protein_id": "ENSP00000635962.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 864,
"cds_start": 159,
"cds_end": null,
"cds_length": 2595,
"cdna_start": 301,
"cdna_end": null,
"cdna_length": 3217,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965903.1"
},
{
"aa_ref": "A",
"aa_alt": "AP?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD6IP",
"gene_hgnc_id": 8766,
"hgvs_c": "c.154_158dupGCCGC",
"hgvs_p": "p.Val54fs",
"transcript": "ENST00000965907.1",
"protein_id": "ENSP00000635966.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 862,
"cds_start": 159,
"cds_end": null,
"cds_length": 2589,
"cdna_start": 289,
"cdna_end": null,
"cdna_length": 3199,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965907.1"
},
{
"aa_ref": "A",
"aa_alt": "AP?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD6IP",
"gene_hgnc_id": 8766,
"hgvs_c": "c.154_158dupGCCGC",
"hgvs_p": "p.Val54fs",
"transcript": "ENST00000965905.1",
"protein_id": "ENSP00000635964.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 859,
"cds_start": 159,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 301,
"cdna_end": null,
"cdna_length": 3200,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965905.1"
},
{
"aa_ref": "A",
"aa_alt": "AP?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD6IP",
"gene_hgnc_id": 8766,
"hgvs_c": "c.154_158dupGCCGC",
"hgvs_p": "p.Val54fs",
"transcript": "ENST00000866274.1",
"protein_id": "ENSP00000536333.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 832,
"cds_start": 159,
"cds_end": null,
"cds_length": 2499,
"cdna_start": 230,
"cdna_end": null,
"cdna_length": 3051,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866274.1"
},
{
"aa_ref": "A",
"aa_alt": "AP?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD6IP",
"gene_hgnc_id": 8766,
"hgvs_c": "c.154_158dupGCCGC",
"hgvs_p": "p.Val54fs",
"transcript": "ENST00000866275.1",
"protein_id": "ENSP00000536334.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 829,
"cds_start": 159,
"cds_end": null,
"cds_length": 2490,
"cdna_start": 273,
"cdna_end": null,
"cdna_length": 2662,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866275.1"
},
{
"aa_ref": "A",
"aa_alt": "AP?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD6IP",
"gene_hgnc_id": 8766,
"hgvs_c": "c.154_158dupGCCGC",
"hgvs_p": "p.Val54fs",
"transcript": "ENST00000965904.1",
"protein_id": "ENSP00000635963.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 785,
"cds_start": 159,
"cds_end": null,
"cds_length": 2358,
"cdna_start": 303,
"cdna_end": null,
"cdna_length": 2980,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965904.1"
},
{
"aa_ref": "A",
"aa_alt": "AP?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD6IP",
"gene_hgnc_id": 8766,
"hgvs_c": "c.154_158dupGCCGC",
"hgvs_p": "p.Val54fs",
"transcript": "NM_001256192.2",
"protein_id": "NP_001243121.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 271,
"cds_start": 159,
"cds_end": null,
"cds_length": 816,
"cdna_start": 258,
"cdna_end": null,
"cdna_length": 1506,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256192.2"
},
{
"aa_ref": "A",
"aa_alt": "AP?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD6IP",
"gene_hgnc_id": 8766,
"hgvs_c": "c.154_158dupGCCGC",
"hgvs_p": "p.Val54fs",
"transcript": "ENST00000413073.1",
"protein_id": "ENSP00000406693.1",
"transcript_support_level": 4,
"aa_start": 53,
"aa_end": null,
"aa_length": 152,
"cds_start": 159,
"cds_end": null,
"cds_length": 460,
"cdna_start": 265,
"cdna_end": null,
"cdna_length": 566,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000413073.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD6IP",
"gene_hgnc_id": 8766,
"hgvs_c": "n.154_158dupGCCGC",
"hgvs_p": null,
"transcript": "ENST00000430877.5",
"protein_id": "ENSP00000398895.1",
"transcript_support_level": 3,
"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": 582,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000430877.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD6IP",
"gene_hgnc_id": 8766,
"hgvs_c": "n.154_158dupGCCGC",
"hgvs_p": null,
"transcript": "ENST00000435909.5",
"protein_id": "ENSP00000393777.1",
"transcript_support_level": 5,
"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": 587,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000435909.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD6IP",
"gene_hgnc_id": 8766,
"hgvs_c": "n.253_257dupGCCGC",
"hgvs_p": null,
"transcript": "ENST00000477798.5",
"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": 587,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000477798.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD6IP",
"gene_hgnc_id": 8766,
"hgvs_c": "n.154_158dupGCCGC",
"hgvs_p": null,
"transcript": "ENST00000648706.1",
"protein_id": "ENSP00000497537.1",
"transcript_support_level": null,
"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": 6049,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000648706.1"
},
{
"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": "PDCD6IP-DT",
"gene_hgnc_id": 55244,
"hgvs_c": "n.151_155dupGGCGC",
"hgvs_p": null,
"transcript": "ENST00000747840.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2200,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000747840.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD6IP",
"gene_hgnc_id": 8766,
"hgvs_c": "c.-1026_-1025insGCGCC",
"hgvs_p": null,
"transcript": "XM_011533252.2",
"protein_id": "XP_011531554.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 683,
"cds_start": null,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6167,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533252.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD6IP",
"gene_hgnc_id": 8766,
"hgvs_c": "c.-898_-897insGCGCC",
"hgvs_p": null,
"transcript": "XM_047447042.1",
"protein_id": "XP_047302998.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 683,
"cds_start": null,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6039,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447042.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDCD6IP",
"gene_hgnc_id": 8766,
"hgvs_c": "n.-66_-65insGCGCC",
"hgvs_p": null,
"transcript": "ENST00000498147.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 802,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000498147.5"
}
],
"gene_symbol": "PDCD6IP",
"gene_hgnc_id": 8766,
"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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 2.213,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"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,PP5",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001162429.3",
"gene_symbol": "PDCD6IP",
"hgnc_id": 8766,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.154_158dupGCCGC",
"hgvs_p": "p.Val54fs"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000747840.1",
"gene_symbol": "PDCD6IP-DT",
"hgnc_id": 55244,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.151_155dupGGCGC",
"hgvs_p": null
}
],
"clinvar_disease": " autosomal recessive, primary,Microcephaly 29",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Microcephaly 29, primary, autosomal recessive",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}