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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: 9-129040620-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=129040620&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 129040620,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_032809.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA2",
"gene_hgnc_id": 23621,
"hgvs_c": "c.26C>T",
"hgvs_p": "p.Thr9Met",
"transcript": "NM_001329990.2",
"protein_id": "NP_001316919.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 593,
"cds_start": 26,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000684074.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329990.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA2",
"gene_hgnc_id": 23621,
"hgvs_c": "c.26C>T",
"hgvs_p": "p.Thr9Met",
"transcript": "ENST00000684074.1",
"protein_id": "ENSP00000506871.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 593,
"cds_start": 26,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001329990.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684074.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA2",
"gene_hgnc_id": 23621,
"hgvs_c": "c.26C>T",
"hgvs_p": "p.Thr9Met",
"transcript": "ENST00000358369.8",
"protein_id": "ENSP00000351138.4",
"transcript_support_level": 1,
"aa_start": 9,
"aa_end": null,
"aa_length": 593,
"cds_start": 26,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358369.8"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA2",
"gene_hgnc_id": 23621,
"hgvs_c": "c.26C>T",
"hgvs_p": "p.Thr9Met",
"transcript": "ENST00000942817.1",
"protein_id": "ENSP00000612876.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 707,
"cds_start": 26,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942817.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA2",
"gene_hgnc_id": 23621,
"hgvs_c": "c.26C>T",
"hgvs_p": "p.Thr9Met",
"transcript": "ENST00000942819.1",
"protein_id": "ENSP00000612878.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 662,
"cds_start": 26,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942819.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA2",
"gene_hgnc_id": 23621,
"hgvs_c": "c.218C>T",
"hgvs_p": "p.Thr73Met",
"transcript": "NM_032809.4",
"protein_id": "NP_116198.3",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 657,
"cds_start": 218,
"cds_end": null,
"cds_length": 1974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032809.4"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA2",
"gene_hgnc_id": 23621,
"hgvs_c": "c.26C>T",
"hgvs_p": "p.Thr9Met",
"transcript": "ENST00000885494.1",
"protein_id": "ENSP00000555553.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 593,
"cds_start": 26,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885494.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA2",
"gene_hgnc_id": 23621,
"hgvs_c": "c.26C>T",
"hgvs_p": "p.Thr9Met",
"transcript": "ENST00000885496.1",
"protein_id": "ENSP00000555555.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 593,
"cds_start": 26,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885496.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA2",
"gene_hgnc_id": 23621,
"hgvs_c": "c.26C>T",
"hgvs_p": "p.Thr9Met",
"transcript": "ENST00000923055.1",
"protein_id": "ENSP00000593114.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 593,
"cds_start": 26,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923055.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA2",
"gene_hgnc_id": 23621,
"hgvs_c": "c.26C>T",
"hgvs_p": "p.Thr9Met",
"transcript": "ENST00000942814.1",
"protein_id": "ENSP00000612873.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 591,
"cds_start": 26,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942814.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA2",
"gene_hgnc_id": 23621,
"hgvs_c": "c.26C>T",
"hgvs_p": "p.Thr9Met",
"transcript": "ENST00000885495.1",
"protein_id": "ENSP00000555554.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 583,
"cds_start": 26,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885495.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA2",
"gene_hgnc_id": 23621,
"hgvs_c": "c.26C>T",
"hgvs_p": "p.Thr9Met",
"transcript": "ENST00000885493.1",
"protein_id": "ENSP00000555552.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 579,
"cds_start": 26,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885493.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA2",
"gene_hgnc_id": 23621,
"hgvs_c": "c.26C>T",
"hgvs_p": "p.Thr9Met",
"transcript": "ENST00000942820.1",
"protein_id": "ENSP00000612879.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 579,
"cds_start": 26,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942820.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA2",
"gene_hgnc_id": 23621,
"hgvs_c": "c.26C>T",
"hgvs_p": "p.Thr9Met",
"transcript": "ENST00000942816.1",
"protein_id": "ENSP00000612875.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 575,
"cds_start": 26,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942816.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA2",
"gene_hgnc_id": 23621,
"hgvs_c": "c.26C>T",
"hgvs_p": "p.Thr9Met",
"transcript": "ENST00000942815.1",
"protein_id": "ENSP00000612874.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 554,
"cds_start": 26,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942815.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA2",
"gene_hgnc_id": 23621,
"hgvs_c": "c.26C>T",
"hgvs_p": "p.Thr9Met",
"transcript": "ENST00000942818.1",
"protein_id": "ENSP00000612877.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 428,
"cds_start": 26,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942818.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA2",
"gene_hgnc_id": 23621,
"hgvs_c": "c.26C>T",
"hgvs_p": "p.Thr9Met",
"transcript": "ENST00000450073.1",
"protein_id": "ENSP00000409348.1",
"transcript_support_level": 5,
"aa_start": 9,
"aa_end": null,
"aa_length": 98,
"cds_start": 26,
"cds_end": null,
"cds_length": 299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450073.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA2",
"gene_hgnc_id": 23621,
"hgvs_c": "c.218C>T",
"hgvs_p": "p.Thr73Met",
"transcript": "XM_047423975.1",
"protein_id": "XP_047279931.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 562,
"cds_start": 218,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423975.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA2",
"gene_hgnc_id": 23621,
"hgvs_c": "c.218C>T",
"hgvs_p": "p.Thr73Met",
"transcript": "XM_047423976.1",
"protein_id": "XP_047279932.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 468,
"cds_start": 218,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423976.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA2",
"gene_hgnc_id": 23621,
"hgvs_c": "n.26C>T",
"hgvs_p": null,
"transcript": "ENST00000439290.5",
"protein_id": "ENSP00000391603.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000439290.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA2",
"gene_hgnc_id": 23621,
"hgvs_c": "n.26C>T",
"hgvs_p": null,
"transcript": "ENST00000445183.5",
"protein_id": "ENSP00000396618.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000445183.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA2",
"gene_hgnc_id": 23621,
"hgvs_c": "n.230C>T",
"hgvs_p": null,
"transcript": "ENST00000474534.1",
"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": "ENST00000474534.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
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"exon_count": 3,
"intron_rank": null,
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"gene_symbol": "MIGA2",
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"transcript_support_level": 4,
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"biotype": "pseudogene",
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},
{
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"protein_coding": false,
"strand": true,
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],
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"exon_count": 17,
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"gene_symbol": "MIGA2",
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"hgvs_c": "n.225C>T",
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"transcript": "NR_138421.2",
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"biotype": "pseudogene",
"feature": "NR_138421.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
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"exon_count": 14,
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"gene_symbol": "MIGA2",
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"hgvs_c": "n.225C>T",
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"transcript": "NR_138422.2",
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"biotype": "pseudogene",
"feature": "NR_138422.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 17,
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"gene_symbol": "MIGA2",
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"transcript": "NR_138423.2",
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"feature": "NR_138423.2"
},
{
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"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"gene_symbol": "MIGA2",
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"transcript": "NR_138424.2",
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"feature": "NR_138424.2"
},
{
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"strand": true,
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],
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"exon_count": 16,
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"gene_symbol": "MIGA2",
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"transcript": "NR_138425.2",
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"biotype": "pseudogene",
"feature": "NR_138425.2"
},
{
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"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"gene_symbol": "MIGA2",
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"hgvs_c": "n.252C>T",
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"transcript": "XR_007061362.1",
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007061362.1"
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],
"gene_symbol": "MIGA2",
"gene_hgnc_id": 23621,
"dbsnp": "rs549699802",
"frequency_reference_population": 0.000010537565,
"hom_count_reference_population": 0,
"allele_count_reference_population": 17,
"gnomad_exomes_af": 0.0000102662,
"gnomad_genomes_af": 0.0000131434,
"gnomad_exomes_ac": 15,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06045958399772644,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.083,
"revel_prediction": "Benign",
"alphamissense_score": 0.0519,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.56,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_032809.4",
"gene_symbol": "MIGA2",
"hgnc_id": 23621,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.218C>T",
"hgvs_p": "p.Thr73Met"
}
],
"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
}