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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: 12-32722472-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=32722472&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 32722472,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_001278464.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.957A>G",
"hgvs_p": "p.Thr319Thr",
"transcript": "NM_001278464.2",
"protein_id": "NP_001265393.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 749,
"cds_start": 957,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "ENST00000553257.6",
"biotype": "protein_coding",
"feature": "NM_001278464.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.957A>G",
"hgvs_p": "p.Thr319Thr",
"transcript": "ENST00000553257.6",
"protein_id": "ENSP00000449089.1",
"transcript_support_level": 2,
"aa_start": 319,
"aa_end": null,
"aa_length": 749,
"cds_start": 957,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "NM_001278464.2",
"biotype": "protein_coding",
"feature": "ENST00000553257.6"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.918A>G",
"hgvs_p": "p.Thr306Thr",
"transcript": "NM_012062.5",
"protein_id": "NP_036192.2",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 736,
"cds_start": 918,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000549701.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012062.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.918A>G",
"hgvs_p": "p.Thr306Thr",
"transcript": "ENST00000549701.6",
"protein_id": "ENSP00000450399.1",
"transcript_support_level": 1,
"aa_start": 306,
"aa_end": null,
"aa_length": 736,
"cds_start": 918,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012062.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000549701.6"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.957A>G",
"hgvs_p": "p.Thr319Thr",
"transcript": "ENST00000381000.8",
"protein_id": "ENSP00000370388.4",
"transcript_support_level": 1,
"aa_start": 319,
"aa_end": null,
"aa_length": 738,
"cds_start": 957,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381000.8"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.918A>G",
"hgvs_p": "p.Thr306Thr",
"transcript": "ENST00000547312.5",
"protein_id": "ENSP00000448610.1",
"transcript_support_level": 1,
"aa_start": 306,
"aa_end": null,
"aa_length": 725,
"cds_start": 918,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000547312.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.918A>G",
"hgvs_p": "p.Thr306Thr",
"transcript": "ENST00000452533.6",
"protein_id": "ENSP00000415131.2",
"transcript_support_level": 1,
"aa_start": 306,
"aa_end": null,
"aa_length": 710,
"cds_start": 918,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452533.6"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.918A>G",
"hgvs_p": "p.Thr306Thr",
"transcript": "ENST00000266481.10",
"protein_id": "ENSP00000266481.6",
"transcript_support_level": 1,
"aa_start": 306,
"aa_end": null,
"aa_length": 699,
"cds_start": 918,
"cds_end": null,
"cds_length": 2100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000266481.10"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.957A>G",
"hgvs_p": "p.Thr319Thr",
"transcript": "ENST00000945622.1",
"protein_id": "ENSP00000615681.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 766,
"cds_start": 957,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945622.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.918A>G",
"hgvs_p": "p.Thr306Thr",
"transcript": "ENST00000924992.1",
"protein_id": "ENSP00000595051.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 753,
"cds_start": 918,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924992.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.957A>G",
"hgvs_p": "p.Thr319Thr",
"transcript": "NM_001278465.2",
"protein_id": "NP_001265394.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 738,
"cds_start": 957,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278465.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.918A>G",
"hgvs_p": "p.Thr306Thr",
"transcript": "ENST00000861255.1",
"protein_id": "ENSP00000531314.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 727,
"cds_start": 918,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861255.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.918A>G",
"hgvs_p": "p.Thr306Thr",
"transcript": "NM_001278463.2",
"protein_id": "NP_001265392.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 725,
"cds_start": 918,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278463.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.867A>G",
"hgvs_p": "p.Thr289Thr",
"transcript": "ENST00000551476.6",
"protein_id": "ENSP00000447845.2",
"transcript_support_level": 5,
"aa_start": 289,
"aa_end": null,
"aa_length": 719,
"cds_start": 867,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000551476.6"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.957A>G",
"hgvs_p": "p.Thr319Thr",
"transcript": "NM_001330380.2",
"protein_id": "NP_001317309.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 712,
"cds_start": 957,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330380.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.957A>G",
"hgvs_p": "p.Thr319Thr",
"transcript": "ENST00000358214.9",
"protein_id": "ENSP00000350948.5",
"transcript_support_level": 5,
"aa_start": 319,
"aa_end": null,
"aa_length": 712,
"cds_start": 957,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358214.9"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.918A>G",
"hgvs_p": "p.Thr306Thr",
"transcript": "NM_012063.4",
"protein_id": "NP_036193.2",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 710,
"cds_start": 918,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012063.4"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.918A>G",
"hgvs_p": "p.Thr306Thr",
"transcript": "NM_005690.5",
"protein_id": "NP_005681.2",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 699,
"cds_start": 918,
"cds_end": null,
"cds_length": 2100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005690.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.831A>G",
"hgvs_p": "p.Thr277Thr",
"transcript": "ENST00000548750.6",
"protein_id": "ENSP00000447788.2",
"transcript_support_level": 3,
"aa_start": 277,
"aa_end": null,
"aa_length": 696,
"cds_start": 831,
"cds_end": null,
"cds_length": 2091,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000548750.6"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.870A>G",
"hgvs_p": "p.Thr290Thr",
"transcript": "ENST00000945620.1",
"protein_id": "ENSP00000615679.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 683,
"cds_start": 870,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945620.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.831A>G",
"hgvs_p": "p.Thr277Thr",
"transcript": "ENST00000945618.1",
"protein_id": "ENSP00000615677.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 681,
"cds_start": 831,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945618.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"hgvs_c": "c.918A>G",
"hgvs_p": "p.Thr306Thr",
"transcript": "ENST00000924991.1",
"protein_id": "ENSP00000595050.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
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{
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],
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"exon_count": 20,
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"gene_symbol": "DNM1L",
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},
{
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],
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"gene_symbol": "DNM1L",
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"transcript": "ENST00000703360.1",
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{
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"gene_symbol": "DNM1L",
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"transcript": "ENST00000703362.1",
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{
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"gene_symbol": "DNM1L",
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"hgvs_c": "n.*465A>G",
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"transcript": "ENST00000703368.1",
"protein_id": "ENSP00000515278.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000703368.1"
}
],
"gene_symbol": "DNM1L",
"gene_hgnc_id": 2973,
"dbsnp": "rs10844318",
"frequency_reference_population": 0.13479422,
"hom_count_reference_population": 15139,
"allele_count_reference_population": 217343,
"gnomad_exomes_af": 0.134121,
"gnomad_genomes_af": 0.141252,
"gnomad_exomes_ac": 195843,
"gnomad_genomes_ac": 21500,
"gnomad_exomes_homalt": 13584,
"gnomad_genomes_homalt": 1555,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5699999928474426,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.749,
"phylop100way_prediction": "Benign",
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001278464.2",
"gene_symbol": "DNM1L",
"hgnc_id": 2973,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.957A>G",
"hgvs_p": "p.Thr319Thr"
}
],
"clinvar_disease": " due to defective mitochondrial peroxisomal fission 1, lethal,Encephalopathy,Optic atrophy 5,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:6",
"phenotype_combined": "not specified|not provided|Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1|Optic atrophy 5",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}