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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: 4-112647714-A-AAAAGGAT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=112647714&ref=A&alt=AAAAGGAT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 112647714,
"ref": "A",
"alt": "AAAAGGAT",
"effect": "frameshift_variant",
"transcript": "NM_001370974.1",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "KGY?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP7",
"gene_hgnc_id": 24912,
"hgvs_c": "c.1024_1030dupAAGGATA",
"hgvs_p": "p.Thr344fs",
"transcript": "NM_016648.4",
"protein_id": "NP_057732.2",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 582,
"cds_start": 1031,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000344442.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016648.4"
},
{
"aa_ref": "T",
"aa_alt": "KGY?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP7",
"gene_hgnc_id": 24912,
"hgvs_c": "c.1024_1030dupAAGGATA",
"hgvs_p": "p.Thr344fs",
"transcript": "ENST00000344442.10",
"protein_id": "ENSP00000344950.5",
"transcript_support_level": 2,
"aa_start": 344,
"aa_end": null,
"aa_length": 582,
"cds_start": 1031,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016648.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000344442.10"
},
{
"aa_ref": "T",
"aa_alt": "KGY?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP7",
"gene_hgnc_id": 24912,
"hgvs_c": "c.1024_1030dupAAGGATA",
"hgvs_p": "p.Thr344fs",
"transcript": "ENST00000509061.5",
"protein_id": "ENSP00000422626.2",
"transcript_support_level": 1,
"aa_start": 344,
"aa_end": null,
"aa_length": 582,
"cds_start": 1031,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000509061.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP7",
"gene_hgnc_id": 24912,
"hgvs_c": "n.*783_*789dupAAGGATA",
"hgvs_p": null,
"transcript": "ENST00000509622.5",
"protein_id": "ENSP00000422451.1",
"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": "ENST00000509622.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP7",
"gene_hgnc_id": 24912,
"hgvs_c": "n.*783_*789dupAAGGATA",
"hgvs_p": null,
"transcript": "ENST00000509622.5",
"protein_id": "ENSP00000422451.1",
"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": "ENST00000509622.5"
},
{
"aa_ref": "T",
"aa_alt": "KGY?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP7",
"gene_hgnc_id": 24912,
"hgvs_c": "c.1069_1075dupAAGGATA",
"hgvs_p": "p.Thr359fs",
"transcript": "ENST00000926151.1",
"protein_id": "ENSP00000596213.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 597,
"cds_start": 1076,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926151.1"
},
{
"aa_ref": "T",
"aa_alt": "KGY?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP7",
"gene_hgnc_id": 24912,
"hgvs_c": "c.1063_1069dupAAGGATA",
"hgvs_p": "p.Thr357fs",
"transcript": "NM_001370974.1",
"protein_id": "NP_001357903.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 595,
"cds_start": 1070,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370974.1"
},
{
"aa_ref": "T",
"aa_alt": "KGY?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP7",
"gene_hgnc_id": 24912,
"hgvs_c": "c.1063_1069dupAAGGATA",
"hgvs_p": "p.Thr357fs",
"transcript": "NM_001370975.1",
"protein_id": "NP_001357904.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 595,
"cds_start": 1070,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370975.1"
},
{
"aa_ref": "T",
"aa_alt": "KGY?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP7",
"gene_hgnc_id": 24912,
"hgvs_c": "c.1063_1069dupAAGGATA",
"hgvs_p": "p.Thr357fs",
"transcript": "ENST00000694898.1",
"protein_id": "ENSP00000511576.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 595,
"cds_start": 1070,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000694898.1"
},
{
"aa_ref": "T",
"aa_alt": "KGY?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP7",
"gene_hgnc_id": 24912,
"hgvs_c": "c.1063_1069dupAAGGATA",
"hgvs_p": "p.Thr357fs",
"transcript": "ENST00000895081.1",
"protein_id": "ENSP00000565140.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 595,
"cds_start": 1070,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895081.1"
},
{
"aa_ref": "T",
"aa_alt": "KGY?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP7",
"gene_hgnc_id": 24912,
"hgvs_c": "c.1063_1069dupAAGGATA",
"hgvs_p": "p.Thr357fs",
"transcript": "ENST00000895087.1",
"protein_id": "ENSP00000565146.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 595,
"cds_start": 1070,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895087.1"
},
{
"aa_ref": "T",
"aa_alt": "KGY?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP7",
"gene_hgnc_id": 24912,
"hgvs_c": "c.1063_1069dupAAGGATA",
"hgvs_p": "p.Thr357fs",
"transcript": "ENST00000895091.1",
"protein_id": "ENSP00000565150.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 595,
"cds_start": 1070,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895091.1"
},
{
"aa_ref": "T",
"aa_alt": "KGY?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP7",
"gene_hgnc_id": 24912,
"hgvs_c": "c.1060_1066dupAAGGATA",
"hgvs_p": "p.Thr356fs",
"transcript": "NM_001370976.1",
"protein_id": "NP_001357905.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 594,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370976.1"
},
{
"aa_ref": "T",
"aa_alt": "KGY?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP7",
"gene_hgnc_id": 24912,
"hgvs_c": "c.1060_1066dupAAGGATA",
"hgvs_p": "p.Thr356fs",
"transcript": "NM_001370977.1",
"protein_id": "NP_001357906.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 594,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370977.1"
},
{
"aa_ref": "T",
"aa_alt": "KGY?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP7",
"gene_hgnc_id": 24912,
"hgvs_c": "c.1060_1066dupAAGGATA",
"hgvs_p": "p.Thr356fs",
"transcript": "ENST00000511529.2",
"protein_id": "ENSP00000426376.2",
"transcript_support_level": 5,
"aa_start": 356,
"aa_end": null,
"aa_length": 594,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000511529.2"
},
{
"aa_ref": "T",
"aa_alt": "KGY?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP7",
"gene_hgnc_id": 24912,
"hgvs_c": "c.1063_1069dupAAGGATA",
"hgvs_p": "p.Thr357fs",
"transcript": "ENST00000694896.1",
"protein_id": "ENSP00000511574.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 594,
"cds_start": 1070,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000694896.1"
},
{
"aa_ref": "T",
"aa_alt": "KGY?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP7",
"gene_hgnc_id": 24912,
"hgvs_c": "c.1060_1066dupAAGGATA",
"hgvs_p": "p.Thr356fs",
"transcript": "ENST00000895090.1",
"protein_id": "ENSP00000565149.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 594,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895090.1"
},
{
"aa_ref": "T",
"aa_alt": "KGY?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP7",
"gene_hgnc_id": 24912,
"hgvs_c": "c.1063_1069dupAAGGATA",
"hgvs_p": "p.Thr357fs",
"transcript": "ENST00000895092.1",
"protein_id": "ENSP00000565151.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 594,
"cds_start": 1070,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895092.1"
},
{
"aa_ref": "T",
"aa_alt": "KGY?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP7",
"gene_hgnc_id": 24912,
"hgvs_c": "c.1063_1069dupAAGGATA",
"hgvs_p": "p.Thr357fs",
"transcript": "ENST00000969073.1",
"protein_id": "ENSP00000639132.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 594,
"cds_start": 1070,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969073.1"
},
{
"aa_ref": "T",
"aa_alt": "KGY?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP7",
"gene_hgnc_id": 24912,
"hgvs_c": "c.1024_1030dupAAGGATA",
"hgvs_p": "p.Thr344fs",
"transcript": "NM_001267039.4",
"protein_id": "NP_001253968.2",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 582,
"cds_start": 1031,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001267039.4"
},
{
"aa_ref": "T",
"aa_alt": "KGY?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP7",
"gene_hgnc_id": 24912,
"hgvs_c": "c.1024_1030dupAAGGATA",
"hgvs_p": "p.Thr344fs",
"transcript": "NM_001370978.1",
"protein_id": "NP_001357907.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 582,
"cds_start": 1031,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370978.1"
},
{
"aa_ref": "T",
"aa_alt": "KGY?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARP7",
"gene_hgnc_id": 24912,
"hgvs_c": "c.1024_1030dupAAGGATA",
"hgvs_p": "p.Thr344fs",
"transcript": "NM_015454.3",
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"gene_hgnc_id": 31781,
"hgvs_c": "n.*194_*200dupATCCTTT",
"hgvs_p": null,
"transcript": "unassigned_transcript_770",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "miRNA",
"feature": "unassigned_transcript_770"
}
],
"gene_symbol": "LARP7",
"gene_hgnc_id": 24912,
"dbsnp": "rs1057519017",
"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": -0.154,
"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": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "NM_001370974.1",
"gene_symbol": "LARP7",
"hgnc_id": 24912,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1063_1069dupAAGGATA",
"hgvs_p": "p.Thr357fs"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP5_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000688371.3",
"gene_symbol": "MIR302CHG",
"hgnc_id": 41070,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.980_986dupATCCTTT",
"hgvs_p": null
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP5_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NR_029860.1",
"gene_symbol": "MIR367",
"hgnc_id": 31781,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*153_*159dupATCCTTT",
"hgvs_p": null
}
],
"clinvar_disease": " Alazami type,Microcephalic primordial dwarfism",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Microcephalic primordial dwarfism, Alazami type",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}