← Back to variant description
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: 6-30703210-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=30703210&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 30703210,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_014641.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDC1",
"gene_hgnc_id": 21163,
"hgvs_c": "c.5759C>T",
"hgvs_p": "p.Ala1920Val",
"transcript": "NM_014641.3",
"protein_id": "NP_055456.2",
"transcript_support_level": null,
"aa_start": 1920,
"aa_end": null,
"aa_length": 2089,
"cds_start": 5759,
"cds_end": null,
"cds_length": 6270,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000376406.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014641.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDC1",
"gene_hgnc_id": 21163,
"hgvs_c": "c.5759C>T",
"hgvs_p": "p.Ala1920Val",
"transcript": "ENST00000376406.8",
"protein_id": "ENSP00000365588.3",
"transcript_support_level": 5,
"aa_start": 1920,
"aa_end": null,
"aa_length": 2089,
"cds_start": 5759,
"cds_end": null,
"cds_length": 6270,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014641.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376406.8"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDC1",
"gene_hgnc_id": 21163,
"hgvs_c": "c.5759C>T",
"hgvs_p": "p.Ala1920Val",
"transcript": "ENST00000939654.1",
"protein_id": "ENSP00000609713.1",
"transcript_support_level": null,
"aa_start": 1920,
"aa_end": null,
"aa_length": 2089,
"cds_start": 5759,
"cds_end": null,
"cds_length": 6270,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939654.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDC1",
"gene_hgnc_id": 21163,
"hgvs_c": "c.5189C>T",
"hgvs_p": "p.Ala1730Val",
"transcript": "ENST00000860518.1",
"protein_id": "ENSP00000530577.1",
"transcript_support_level": null,
"aa_start": 1730,
"aa_end": null,
"aa_length": 1899,
"cds_start": 5189,
"cds_end": null,
"cds_length": 5700,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860518.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDC1",
"gene_hgnc_id": 21163,
"hgvs_c": "c.5189C>T",
"hgvs_p": "p.Ala1730Val",
"transcript": "ENST00000939653.1",
"protein_id": "ENSP00000609712.1",
"transcript_support_level": null,
"aa_start": 1730,
"aa_end": null,
"aa_length": 1899,
"cds_start": 5189,
"cds_end": null,
"cds_length": 5700,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939653.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDC1",
"gene_hgnc_id": 21163,
"hgvs_c": "c.4958C>T",
"hgvs_p": "p.Ala1653Val",
"transcript": "ENST00000939656.1",
"protein_id": "ENSP00000609715.1",
"transcript_support_level": null,
"aa_start": 1653,
"aa_end": null,
"aa_length": 1822,
"cds_start": 4958,
"cds_end": null,
"cds_length": 5469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939656.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDC1",
"gene_hgnc_id": 21163,
"hgvs_c": "c.3482C>T",
"hgvs_p": "p.Ala1161Val",
"transcript": "ENST00000939655.1",
"protein_id": "ENSP00000609714.1",
"transcript_support_level": null,
"aa_start": 1161,
"aa_end": null,
"aa_length": 1330,
"cds_start": 3482,
"cds_end": null,
"cds_length": 3993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939655.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDC1",
"gene_hgnc_id": 21163,
"hgvs_c": "c.2690C>T",
"hgvs_p": "p.Ala897Val",
"transcript": "ENST00000860519.1",
"protein_id": "ENSP00000530578.1",
"transcript_support_level": null,
"aa_start": 897,
"aa_end": null,
"aa_length": 1066,
"cds_start": 2690,
"cds_end": null,
"cds_length": 3201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860519.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDC1",
"gene_hgnc_id": 21163,
"hgvs_c": "c.5822C>T",
"hgvs_p": "p.Ala1941Val",
"transcript": "XM_005249492.3",
"protein_id": "XP_005249549.1",
"transcript_support_level": null,
"aa_start": 1941,
"aa_end": null,
"aa_length": 2110,
"cds_start": 5822,
"cds_end": null,
"cds_length": 6333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005249492.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDC1",
"gene_hgnc_id": 21163,
"hgvs_c": "c.5822C>T",
"hgvs_p": "p.Ala1941Val",
"transcript": "XM_047419580.1",
"protein_id": "XP_047275536.1",
"transcript_support_level": null,
"aa_start": 1941,
"aa_end": null,
"aa_length": 2110,
"cds_start": 5822,
"cds_end": null,
"cds_length": 6333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419580.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDC1",
"gene_hgnc_id": 21163,
"hgvs_c": "c.5819C>T",
"hgvs_p": "p.Ala1940Val",
"transcript": "XM_047419581.1",
"protein_id": "XP_047275537.1",
"transcript_support_level": null,
"aa_start": 1940,
"aa_end": null,
"aa_length": 2109,
"cds_start": 5819,
"cds_end": null,
"cds_length": 6330,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419581.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDC1",
"gene_hgnc_id": 21163,
"hgvs_c": "c.5759C>T",
"hgvs_p": "p.Ala1920Val",
"transcript": "XM_005249494.6",
"protein_id": "XP_005249551.1",
"transcript_support_level": null,
"aa_start": 1920,
"aa_end": null,
"aa_length": 2089,
"cds_start": 5759,
"cds_end": null,
"cds_length": 6270,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005249494.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDC1",
"gene_hgnc_id": 21163,
"hgvs_c": "c.5759C>T",
"hgvs_p": "p.Ala1920Val",
"transcript": "XM_011515003.4",
"protein_id": "XP_011513305.1",
"transcript_support_level": null,
"aa_start": 1920,
"aa_end": null,
"aa_length": 2089,
"cds_start": 5759,
"cds_end": null,
"cds_length": 6270,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515003.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDC1",
"gene_hgnc_id": 21163,
"hgvs_c": "c.5759C>T",
"hgvs_p": "p.Ala1920Val",
"transcript": "XM_047419582.1",
"protein_id": "XP_047275538.1",
"transcript_support_level": null,
"aa_start": 1920,
"aa_end": null,
"aa_length": 2089,
"cds_start": 5759,
"cds_end": null,
"cds_length": 6270,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419582.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDC1",
"gene_hgnc_id": 21163,
"hgvs_c": "c.5759C>T",
"hgvs_p": "p.Ala1920Val",
"transcript": "XM_047419583.1",
"protein_id": "XP_047275539.1",
"transcript_support_level": null,
"aa_start": 1920,
"aa_end": null,
"aa_length": 2089,
"cds_start": 5759,
"cds_end": null,
"cds_length": 6270,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419583.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDC1",
"gene_hgnc_id": 21163,
"hgvs_c": "c.5759C>T",
"hgvs_p": "p.Ala1920Val",
"transcript": "XM_047419584.1",
"protein_id": "XP_047275540.1",
"transcript_support_level": null,
"aa_start": 1920,
"aa_end": null,
"aa_length": 2089,
"cds_start": 5759,
"cds_end": null,
"cds_length": 6270,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419584.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDC1",
"gene_hgnc_id": 21163,
"hgvs_c": "c.5375C>T",
"hgvs_p": "p.Ala1792Val",
"transcript": "XM_011515004.4",
"protein_id": "XP_011513306.1",
"transcript_support_level": null,
"aa_start": 1792,
"aa_end": null,
"aa_length": 1961,
"cds_start": 5375,
"cds_end": null,
"cds_length": 5886,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515004.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDC1",
"gene_hgnc_id": 21163,
"hgvs_c": "c.5252C>T",
"hgvs_p": "p.Ala1751Val",
"transcript": "XM_005249497.5",
"protein_id": "XP_005249554.1",
"transcript_support_level": null,
"aa_start": 1751,
"aa_end": null,
"aa_length": 1920,
"cds_start": 5252,
"cds_end": null,
"cds_length": 5763,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005249497.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDC1",
"gene_hgnc_id": 21163,
"hgvs_c": "c.5249C>T",
"hgvs_p": "p.Ala1750Val",
"transcript": "XM_047419585.1",
"protein_id": "XP_047275541.1",
"transcript_support_level": null,
"aa_start": 1750,
"aa_end": null,
"aa_length": 1919,
"cds_start": 5249,
"cds_end": null,
"cds_length": 5760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419585.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDC1",
"gene_hgnc_id": 21163,
"hgvs_c": "c.5189C>T",
"hgvs_p": "p.Ala1730Val",
"transcript": "XM_047419586.1",
"protein_id": "XP_047275542.1",
"transcript_support_level": null,
"aa_start": 1730,
"aa_end": null,
"aa_length": 1899,
"cds_start": 5189,
"cds_end": null,
"cds_length": 5700,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419586.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDC1",
"gene_hgnc_id": 21163,
"hgvs_c": "c.5030C>T",
"hgvs_p": "p.Ala1677Val",
"transcript": "XM_005249498.5",
"protein_id": "XP_005249555.1",
"transcript_support_level": null,
"aa_start": 1677,
"aa_end": null,
"aa_length": 1846,
"cds_start": 5030,
"cds_end": null,
"cds_length": 5541,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005249498.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDC1",
"gene_hgnc_id": 21163,
"hgvs_c": "c.5030C>T",
"hgvs_p": "p.Ala1677Val",
"transcript": "XM_047419587.1",
"protein_id": "XP_047275543.1",
"transcript_support_level": null,
"aa_start": 1677,
"aa_end": null,
"aa_length": 1846,
"cds_start": 5030,
"cds_end": null,
"cds_length": 5541,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419587.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDC1",
"gene_hgnc_id": 21163,
"hgvs_c": "c.5027C>T",
"hgvs_p": "p.Ala1676Val",
"transcript": "XM_017011522.3",
"protein_id": "XP_016867011.1",
"transcript_support_level": null,
"aa_start": 1676,
"aa_end": null,
"aa_length": 1845,
"cds_start": 5027,
"cds_end": null,
"cds_length": 5538,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011522.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDC1",
"gene_hgnc_id": 21163,
"hgvs_c": "c.4967C>T",
"hgvs_p": "p.Ala1656Val",
"transcript": "XM_047419588.1",
"protein_id": "XP_047275544.1",
"transcript_support_level": null,
"aa_start": 1656,
"aa_end": null,
"aa_length": 1825,
"cds_start": 4967,
"cds_end": null,
"cds_length": 5478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419588.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDC1",
"gene_hgnc_id": 21163,
"hgvs_c": "c.4964C>T",
"hgvs_p": "p.Ala1655Val",
"transcript": "XM_047419589.1",
"protein_id": "XP_047275545.1",
"transcript_support_level": null,
"aa_start": 1655,
"aa_end": null,
"aa_length": 1824,
"cds_start": 4964,
"cds_end": null,
"cds_length": 5475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419589.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "MDC1",
"gene_hgnc_id": 21163,
"hgvs_c": "c.5682+208C>T",
"hgvs_p": null,
"transcript": "ENST00000939657.1",
"protein_id": "ENSP00000609716.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2028,
"cds_start": null,
"cds_end": null,
"cds_length": 6087,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939657.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDC1",
"gene_hgnc_id": 21163,
"hgvs_c": "n.741C>T",
"hgvs_p": null,
"transcript": "ENST00000489540.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000489540.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MDC1-AS1",
"gene_hgnc_id": 39764,
"hgvs_c": "n.127+17G>A",
"hgvs_p": null,
"transcript": "ENST00000442150.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000442150.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MDC1-AS1",
"gene_hgnc_id": 39764,
"hgvs_c": "n.127+17G>A",
"hgvs_p": null,
"transcript": "NR_133647.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_133647.1"
}
],
"gene_symbol": "MDC1",
"gene_hgnc_id": 21163,
"dbsnp": "rs183122925",
"frequency_reference_population": 0.000058894788,
"hom_count_reference_population": 0,
"allele_count_reference_population": 95,
"gnomad_exomes_af": 0.0000342286,
"gnomad_genomes_af": 0.000295512,
"gnomad_exomes_ac": 50,
"gnomad_genomes_ac": 45,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.01031222939491272,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.209,
"revel_prediction": "Benign",
"alphamissense_score": 0.0913,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.24,
"phylop100way_prediction": "Uncertain_significance",
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_014641.3",
"gene_symbol": "MDC1",
"hgnc_id": 21163,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.5759C>T",
"hgvs_p": "p.Ala1920Val"
},
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000442150.1",
"gene_symbol": "MDC1-AS1",
"hgnc_id": 39764,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.127+17G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}