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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: 17-44851733-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=44851733&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 44851733,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_004247.4",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFTUD2",
"gene_hgnc_id": 30858,
"hgvs_c": "c.2800A>G",
"hgvs_p": "p.Met934Val",
"transcript": "NM_004247.4",
"protein_id": "NP_004238.3",
"transcript_support_level": null,
"aa_start": 934,
"aa_end": null,
"aa_length": 972,
"cds_start": 2800,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000426333.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004247.4"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFTUD2",
"gene_hgnc_id": 30858,
"hgvs_c": "c.2800A>G",
"hgvs_p": "p.Met934Val",
"transcript": "ENST00000426333.7",
"protein_id": "ENSP00000392094.1",
"transcript_support_level": 1,
"aa_start": 934,
"aa_end": null,
"aa_length": 972,
"cds_start": 2800,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004247.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426333.7"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFTUD2",
"gene_hgnc_id": 30858,
"hgvs_c": "c.2968A>G",
"hgvs_p": "p.Met990Val",
"transcript": "ENST00000969864.1",
"protein_id": "ENSP00000639923.1",
"transcript_support_level": null,
"aa_start": 990,
"aa_end": null,
"aa_length": 1028,
"cds_start": 2968,
"cds_end": null,
"cds_length": 3087,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969864.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFTUD2",
"gene_hgnc_id": 30858,
"hgvs_c": "c.2824A>G",
"hgvs_p": "p.Met942Val",
"transcript": "ENST00000880576.1",
"protein_id": "ENSP00000550635.1",
"transcript_support_level": null,
"aa_start": 942,
"aa_end": null,
"aa_length": 980,
"cds_start": 2824,
"cds_end": null,
"cds_length": 2943,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880576.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFTUD2",
"gene_hgnc_id": 30858,
"hgvs_c": "c.2806A>G",
"hgvs_p": "p.Met936Val",
"transcript": "ENST00000925102.1",
"protein_id": "ENSP00000595161.1",
"transcript_support_level": null,
"aa_start": 936,
"aa_end": null,
"aa_length": 974,
"cds_start": 2806,
"cds_end": null,
"cds_length": 2925,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925102.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFTUD2",
"gene_hgnc_id": 30858,
"hgvs_c": "c.2806A>G",
"hgvs_p": "p.Met936Val",
"transcript": "ENST00000969865.1",
"protein_id": "ENSP00000639924.1",
"transcript_support_level": null,
"aa_start": 936,
"aa_end": null,
"aa_length": 974,
"cds_start": 2806,
"cds_end": null,
"cds_length": 2925,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969865.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFTUD2",
"gene_hgnc_id": 30858,
"hgvs_c": "c.2800A>G",
"hgvs_p": "p.Met934Val",
"transcript": "NM_001258353.2",
"protein_id": "NP_001245282.1",
"transcript_support_level": null,
"aa_start": 934,
"aa_end": null,
"aa_length": 972,
"cds_start": 2800,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258353.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFTUD2",
"gene_hgnc_id": 30858,
"hgvs_c": "c.2800A>G",
"hgvs_p": "p.Met934Val",
"transcript": "ENST00000591382.5",
"protein_id": "ENSP00000467805.1",
"transcript_support_level": 2,
"aa_start": 934,
"aa_end": null,
"aa_length": 972,
"cds_start": 2800,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591382.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFTUD2",
"gene_hgnc_id": 30858,
"hgvs_c": "c.2800A>G",
"hgvs_p": "p.Met934Val",
"transcript": "ENST00000880575.1",
"protein_id": "ENSP00000550634.1",
"transcript_support_level": null,
"aa_start": 934,
"aa_end": null,
"aa_length": 972,
"cds_start": 2800,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880575.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFTUD2",
"gene_hgnc_id": 30858,
"hgvs_c": "c.2800A>G",
"hgvs_p": "p.Met934Val",
"transcript": "ENST00000880577.1",
"protein_id": "ENSP00000550636.1",
"transcript_support_level": null,
"aa_start": 934,
"aa_end": null,
"aa_length": 972,
"cds_start": 2800,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880577.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFTUD2",
"gene_hgnc_id": 30858,
"hgvs_c": "c.2800A>G",
"hgvs_p": "p.Met934Val",
"transcript": "ENST00000969866.1",
"protein_id": "ENSP00000639925.1",
"transcript_support_level": null,
"aa_start": 934,
"aa_end": null,
"aa_length": 972,
"cds_start": 2800,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969866.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFTUD2",
"gene_hgnc_id": 30858,
"hgvs_c": "c.2770A>G",
"hgvs_p": "p.Met924Val",
"transcript": "NM_001258354.2",
"protein_id": "NP_001245283.1",
"transcript_support_level": null,
"aa_start": 924,
"aa_end": null,
"aa_length": 962,
"cds_start": 2770,
"cds_end": null,
"cds_length": 2889,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258354.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFTUD2",
"gene_hgnc_id": 30858,
"hgvs_c": "c.2770A>G",
"hgvs_p": "p.Met924Val",
"transcript": "ENST00000592576.5",
"protein_id": "ENSP00000465058.1",
"transcript_support_level": 2,
"aa_start": 924,
"aa_end": null,
"aa_length": 962,
"cds_start": 2770,
"cds_end": null,
"cds_length": 2889,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592576.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFTUD2",
"gene_hgnc_id": 30858,
"hgvs_c": "c.2764A>G",
"hgvs_p": "p.Met922Val",
"transcript": "ENST00000925103.1",
"protein_id": "ENSP00000595162.1",
"transcript_support_level": null,
"aa_start": 922,
"aa_end": null,
"aa_length": 960,
"cds_start": 2764,
"cds_end": null,
"cds_length": 2883,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925103.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFTUD2",
"gene_hgnc_id": 30858,
"hgvs_c": "c.2752A>G",
"hgvs_p": "p.Met918Val",
"transcript": "ENST00000880574.1",
"protein_id": "ENSP00000550633.1",
"transcript_support_level": null,
"aa_start": 918,
"aa_end": null,
"aa_length": 956,
"cds_start": 2752,
"cds_end": null,
"cds_length": 2871,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880574.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFTUD2",
"gene_hgnc_id": 30858,
"hgvs_c": "c.2737A>G",
"hgvs_p": "p.Met913Val",
"transcript": "ENST00000925105.1",
"protein_id": "ENSP00000595164.1",
"transcript_support_level": null,
"aa_start": 913,
"aa_end": null,
"aa_length": 951,
"cds_start": 2737,
"cds_end": null,
"cds_length": 2856,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925105.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFTUD2",
"gene_hgnc_id": 30858,
"hgvs_c": "c.2800A>G",
"hgvs_p": "p.Met934Val",
"transcript": "ENST00000969868.1",
"protein_id": "ENSP00000639927.1",
"transcript_support_level": null,
"aa_start": 934,
"aa_end": null,
"aa_length": 949,
"cds_start": 2800,
"cds_end": null,
"cds_length": 2850,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969868.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFTUD2",
"gene_hgnc_id": 30858,
"hgvs_c": "c.2698A>G",
"hgvs_p": "p.Met900Val",
"transcript": "ENST00000969867.1",
"protein_id": "ENSP00000639926.1",
"transcript_support_level": null,
"aa_start": 900,
"aa_end": null,
"aa_length": 938,
"cds_start": 2698,
"cds_end": null,
"cds_length": 2817,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969867.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFTUD2",
"gene_hgnc_id": 30858,
"hgvs_c": "c.2695A>G",
"hgvs_p": "p.Met899Val",
"transcript": "NM_001142605.2",
"protein_id": "NP_001136077.1",
"transcript_support_level": null,
"aa_start": 899,
"aa_end": null,
"aa_length": 937,
"cds_start": 2695,
"cds_end": null,
"cds_length": 2814,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142605.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFTUD2",
"gene_hgnc_id": 30858,
"hgvs_c": "c.2695A>G",
"hgvs_p": "p.Met899Val",
"transcript": "ENST00000402521.7",
"protein_id": "ENSP00000385873.2",
"transcript_support_level": 2,
"aa_start": 899,
"aa_end": null,
"aa_length": 937,
"cds_start": 2695,
"cds_end": null,
"cds_length": 2814,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402521.7"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFTUD2",
"gene_hgnc_id": 30858,
"hgvs_c": "c.2659A>G",
"hgvs_p": "p.Met887Val",
"transcript": "ENST00000969863.1",
"protein_id": "ENSP00000639922.1",
"transcript_support_level": null,
"aa_start": 887,
"aa_end": null,
"aa_length": 925,
"cds_start": 2659,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969863.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFTUD2",
"gene_hgnc_id": 30858,
"hgvs_c": "c.2611A>G",
"hgvs_p": "p.Met871Val",
"transcript": "ENST00000880573.1",
"protein_id": "ENSP00000550632.1",
"transcript_support_level": null,
"aa_start": 871,
"aa_end": null,
"aa_length": 909,
"cds_start": 2611,
"cds_end": null,
"cds_length": 2730,
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{
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{
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{
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"feature": "ENST00000925104.1"
},
{
"aa_ref": null,
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"consequences": [
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],
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{
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"feature": "ENST00000589769.1"
},
{
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],
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{
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],
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},
{
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"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
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"gene_symbol": "EFTUD2",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000589769.1"
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],
"gene_symbol": "EFTUD2",
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"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6413859724998474,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.377,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3384,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.411,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004247.4",
"gene_symbol": "EFTUD2",
"hgnc_id": 30858,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2800A>G",
"hgvs_p": "p.Met934Val"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}