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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: X-10566960-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=10566960&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 10566960,
"ref": "G",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000317552.9",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MID1",
"gene_hgnc_id": 7095,
"hgvs_c": "c.588C>G",
"hgvs_p": "p.Ala196Ala",
"transcript": "NM_000381.4",
"protein_id": "NP_000372.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 667,
"cds_start": 588,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 940,
"cdna_end": null,
"cdna_length": 6168,
"mane_select": "ENST00000317552.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MID1",
"gene_hgnc_id": 7095,
"hgvs_c": "c.588C>G",
"hgvs_p": "p.Ala196Ala",
"transcript": "ENST00000317552.9",
"protein_id": "ENSP00000312678.4",
"transcript_support_level": 1,
"aa_start": 196,
"aa_end": null,
"aa_length": 667,
"cds_start": 588,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 940,
"cdna_end": null,
"cdna_length": 6168,
"mane_select": "NM_000381.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MID1",
"gene_hgnc_id": 7095,
"hgvs_c": "c.588C>G",
"hgvs_p": "p.Ala196Ala",
"transcript": "ENST00000380779.5",
"protein_id": "ENSP00000370156.1",
"transcript_support_level": 1,
"aa_start": 196,
"aa_end": null,
"aa_length": 667,
"cds_start": 588,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 816,
"cdna_end": null,
"cdna_length": 6044,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MID1",
"gene_hgnc_id": 7095,
"hgvs_c": "c.588C>G",
"hgvs_p": "p.Ala196Ala",
"transcript": "ENST00000380780.5",
"protein_id": "ENSP00000370157.1",
"transcript_support_level": 1,
"aa_start": 196,
"aa_end": null,
"aa_length": 667,
"cds_start": 588,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 967,
"cdna_end": null,
"cdna_length": 6195,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MID1",
"gene_hgnc_id": 7095,
"hgvs_c": "c.588C>G",
"hgvs_p": "p.Ala196Ala",
"transcript": "ENST00000380787.5",
"protein_id": "ENSP00000370164.1",
"transcript_support_level": 1,
"aa_start": 196,
"aa_end": null,
"aa_length": 667,
"cds_start": 588,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 745,
"cdna_end": null,
"cdna_length": 5973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MID1",
"gene_hgnc_id": 7095,
"hgvs_c": "c.588C>G",
"hgvs_p": "p.Ala196Ala",
"transcript": "ENST00000380782.6",
"protein_id": "ENSP00000370159.1",
"transcript_support_level": 1,
"aa_start": 196,
"aa_end": null,
"aa_length": 552,
"cds_start": 588,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 774,
"cdna_end": null,
"cdna_length": 3352,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MID1",
"gene_hgnc_id": 7095,
"hgvs_c": "c.588C>G",
"hgvs_p": "p.Ala196Ala",
"transcript": "ENST00000616003.5",
"protein_id": "ENSP00000484712.1",
"transcript_support_level": 1,
"aa_start": 196,
"aa_end": null,
"aa_length": 540,
"cds_start": 588,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 644,
"cdna_end": null,
"cdna_length": 1927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000291314",
"gene_hgnc_id": null,
"hgvs_c": "c.*590C>G",
"hgvs_p": null,
"transcript": "ENST00000706950.1",
"protein_id": "ENSP00000516670.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 29,
"cds_start": -4,
"cds_end": null,
"cds_length": 90,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MID1",
"gene_hgnc_id": 7095,
"hgvs_c": "n.602+42C>G",
"hgvs_p": null,
"transcript": "ENST00000610939.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MID1",
"gene_hgnc_id": 7095,
"hgvs_c": "c.588C>G",
"hgvs_p": "p.Ala196Ala",
"transcript": "ENST00000675073.1",
"protein_id": "ENSP00000501707.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 718,
"cds_start": 588,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 644,
"cdna_end": null,
"cdna_length": 2369,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MID1",
"gene_hgnc_id": 7095,
"hgvs_c": "c.588C>G",
"hgvs_p": "p.Ala196Ala",
"transcript": "NM_001098624.2",
"protein_id": "NP_001092094.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 667,
"cds_start": 588,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 919,
"cdna_end": null,
"cdna_length": 6393,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MID1",
"gene_hgnc_id": 7095,
"hgvs_c": "c.588C>G",
"hgvs_p": "p.Ala196Ala",
"transcript": "NM_001193277.1",
"protein_id": "NP_001180206.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 667,
"cds_start": 588,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 778,
"cdna_end": null,
"cdna_length": 6252,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MID1",
"gene_hgnc_id": 7095,
"hgvs_c": "c.588C>G",
"hgvs_p": "p.Ala196Ala",
"transcript": "NM_001347733.2",
"protein_id": "NP_001334662.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 667,
"cds_start": 588,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 1018,
"cdna_end": null,
"cdna_length": 6492,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MID1",
"gene_hgnc_id": 7095,
"hgvs_c": "c.588C>G",
"hgvs_p": "p.Ala196Ala",
"transcript": "NM_033290.4",
"protein_id": "NP_150632.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 667,
"cds_start": 588,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 774,
"cdna_end": null,
"cdna_length": 6248,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MID1",
"gene_hgnc_id": 7095,
"hgvs_c": "c.588C>G",
"hgvs_p": "p.Ala196Ala",
"transcript": "ENST00000380785.5",
"protein_id": "ENSP00000370162.1",
"transcript_support_level": 2,
"aa_start": 196,
"aa_end": null,
"aa_length": 667,
"cds_start": 588,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 864,
"cdna_end": null,
"cdna_length": 6092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MID1",
"gene_hgnc_id": 7095,
"hgvs_c": "c.588C>G",
"hgvs_p": "p.Ala196Ala",
"transcript": "ENST00000413894.6",
"protein_id": "ENSP00000391154.2",
"transcript_support_level": 5,
"aa_start": 196,
"aa_end": null,
"aa_length": 667,
"cds_start": 588,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 867,
"cdna_end": null,
"cdna_length": 6095,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MID1",
"gene_hgnc_id": 7095,
"hgvs_c": "c.588C>G",
"hgvs_p": "p.Ala196Ala",
"transcript": "ENST00000453318.6",
"protein_id": "ENSP00000414521.2",
"transcript_support_level": 5,
"aa_start": 196,
"aa_end": null,
"aa_length": 667,
"cds_start": 588,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 919,
"cdna_end": null,
"cdna_length": 6393,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MID1",
"gene_hgnc_id": 7095,
"hgvs_c": "c.588C>G",
"hgvs_p": "p.Ala196Ala",
"transcript": "ENST00000691943.1",
"protein_id": "ENSP00000508663.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 631,
"cds_start": 588,
"cds_end": null,
"cds_length": 1896,
"cdna_start": 897,
"cdna_end": null,
"cdna_length": 3436,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MID1",
"gene_hgnc_id": 7095,
"hgvs_c": "c.588C>G",
"hgvs_p": "p.Ala196Ala",
"transcript": "NM_001193278.1",
"protein_id": "NP_001180207.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 540,
"cds_start": 588,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 644,
"cdna_end": null,
"cdna_length": 1926,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MID1",
"gene_hgnc_id": 7095,
"hgvs_c": "c.588C>G",
"hgvs_p": "p.Ala196Ala",
"transcript": "NM_001193279.1",
"protein_id": "NP_001180208.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 489,
"cds_start": 588,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 644,
"cdna_end": null,
"cdna_length": 1773,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MID1",
"gene_hgnc_id": 7095,
"hgvs_c": "c.588C>G",
"hgvs_p": "p.Ala196Ala",
"transcript": "ENST00000687008.1",
"protein_id": "ENSP00000508734.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 489,
"cds_start": 588,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 588,
"cdna_end": null,
"cdna_length": 2439,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MID1",
"gene_hgnc_id": 7095,
"hgvs_c": "n.876C>G",
"hgvs_p": null,
"transcript": "ENST00000686012.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2250,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "MID1",
"gene_hgnc_id": 7095,
"hgvs_c": "n.494C>G",
"hgvs_p": null,
"transcript": "ENST00000689180.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
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},
{
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},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": 2,
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"exon_count": 2,
"intron_rank": null,
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"gene_symbol": "MID1",
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"hgvs_c": "n.946C>G",
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"transcript": "ENST00000693721.1",
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},
{
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"canonical": false,
"protein_coding": true,
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"consequences": [
"intron_variant"
],
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"exon_count": 10,
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"gene_symbol": "MID1",
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"hgvs_c": "c.546+42C>G",
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"transcript": "NM_033289.2",
"protein_id": "NP_150631.1",
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"aa_start": null,
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"aa_length": 629,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 6300,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 2,
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"gene_symbol": "MID1",
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"hgvs_c": "c.546+42C>G",
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"transcript": "ENST00000689773.1",
"protein_id": "ENSP00000509925.1",
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},
{
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],
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"gene_symbol": "MID1",
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"hgvs_c": "c.546+42C>G",
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"transcript": "ENST00000690004.1",
"protein_id": "ENSP00000509730.1",
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"cdna_length": 3473,
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 6,
"intron_rank": 1,
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"gene_symbol": "MID1",
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"hgvs_c": "c.546+42C>G",
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"transcript": "NM_001193280.1",
"protein_id": "NP_001180209.1",
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"cdna_length": 1659,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "MID1",
"gene_hgnc_id": 7095,
"dbsnp": "rs41303167",
"frequency_reference_population": 0.0022090087,
"hom_count_reference_population": 887,
"allele_count_reference_population": 2673,
"gnomad_exomes_af": 0.00224275,
"gnomad_genomes_af": 0.00187767,
"gnomad_exomes_ac": 2463,
"gnomad_genomes_ac": 210,
"gnomad_exomes_homalt": 3,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5199999809265137,
"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": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.556,
"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,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000317552.9",
"gene_symbol": "MID1",
"hgnc_id": 7095,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.588C>G",
"hgvs_p": "p.Ala196Ala"
},
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000706950.1",
"gene_symbol": "ENSG00000291314",
"hgnc_id": null,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.*590C>G",
"hgvs_p": null
}
],
"clinvar_disease": "Inborn genetic diseases,MID1-related disorder,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:3",
"phenotype_combined": "not specified|not provided|MID1-related disorder|Inborn genetic diseases",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}