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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: 22-30019940-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=30019940&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 30019940,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_021090.4",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR3",
"gene_hgnc_id": 7451,
"hgvs_c": "c.2281T>C",
"hgvs_p": "p.Phe761Leu",
"transcript": "NM_021090.4",
"protein_id": "NP_066576.1",
"transcript_support_level": null,
"aa_start": 761,
"aa_end": null,
"aa_length": 1198,
"cds_start": 2281,
"cds_end": null,
"cds_length": 3597,
"cdna_start": 2604,
"cdna_end": null,
"cdna_length": 8987,
"mane_select": "ENST00000401950.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021090.4"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR3",
"gene_hgnc_id": 7451,
"hgvs_c": "c.2281T>C",
"hgvs_p": "p.Phe761Leu",
"transcript": "ENST00000401950.7",
"protein_id": "ENSP00000384651.3",
"transcript_support_level": 1,
"aa_start": 761,
"aa_end": null,
"aa_length": 1198,
"cds_start": 2281,
"cds_end": null,
"cds_length": 3597,
"cdna_start": 2604,
"cdna_end": null,
"cdna_length": 8987,
"mane_select": "NM_021090.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000401950.7"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR3",
"gene_hgnc_id": 7451,
"hgvs_c": "c.2281T>C",
"hgvs_p": "p.Phe761Leu",
"transcript": "ENST00000351488.7",
"protein_id": "ENSP00000307271.6",
"transcript_support_level": 1,
"aa_start": 761,
"aa_end": null,
"aa_length": 1161,
"cds_start": 2281,
"cds_end": null,
"cds_length": 3486,
"cdna_start": 2565,
"cdna_end": null,
"cdna_length": 4464,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000351488.7"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR3",
"gene_hgnc_id": 7451,
"hgvs_c": "c.2383T>C",
"hgvs_p": "p.Phe795Leu",
"transcript": "ENST00000956491.1",
"protein_id": "ENSP00000626550.1",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 1232,
"cds_start": 2383,
"cds_end": null,
"cds_length": 3699,
"cdna_start": 2693,
"cdna_end": null,
"cdna_length": 4088,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956491.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR3",
"gene_hgnc_id": 7451,
"hgvs_c": "c.2281T>C",
"hgvs_p": "p.Phe761Leu",
"transcript": "ENST00000908090.1",
"protein_id": "ENSP00000578149.1",
"transcript_support_level": null,
"aa_start": 761,
"aa_end": null,
"aa_length": 1207,
"cds_start": 2281,
"cds_end": null,
"cds_length": 3624,
"cdna_start": 2623,
"cdna_end": null,
"cdna_length": 9017,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908090.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR3",
"gene_hgnc_id": 7451,
"hgvs_c": "c.2281T>C",
"hgvs_p": "p.Phe761Leu",
"transcript": "ENST00000908091.1",
"protein_id": "ENSP00000578150.1",
"transcript_support_level": null,
"aa_start": 761,
"aa_end": null,
"aa_length": 1207,
"cds_start": 2281,
"cds_end": null,
"cds_length": 3624,
"cdna_start": 2702,
"cdna_end": null,
"cdna_length": 6103,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908091.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR3",
"gene_hgnc_id": 7451,
"hgvs_c": "c.2281T>C",
"hgvs_p": "p.Phe761Leu",
"transcript": "ENST00000956489.1",
"protein_id": "ENSP00000626548.1",
"transcript_support_level": null,
"aa_start": 761,
"aa_end": null,
"aa_length": 1206,
"cds_start": 2281,
"cds_end": null,
"cds_length": 3621,
"cdna_start": 2572,
"cdna_end": null,
"cdna_length": 5961,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956489.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR3",
"gene_hgnc_id": 7451,
"hgvs_c": "c.2383T>C",
"hgvs_p": "p.Phe795Leu",
"transcript": "ENST00000956488.1",
"protein_id": "ENSP00000626547.1",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 1204,
"cds_start": 2383,
"cds_end": null,
"cds_length": 3615,
"cdna_start": 2706,
"cdna_end": null,
"cdna_length": 5995,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956488.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR3",
"gene_hgnc_id": 7451,
"hgvs_c": "c.2281T>C",
"hgvs_p": "p.Phe761Leu",
"transcript": "ENST00000908094.1",
"protein_id": "ENSP00000578153.1",
"transcript_support_level": null,
"aa_start": 761,
"aa_end": null,
"aa_length": 1198,
"cds_start": 2281,
"cds_end": null,
"cds_length": 3597,
"cdna_start": 2723,
"cdna_end": null,
"cdna_length": 4286,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908094.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR3",
"gene_hgnc_id": 7451,
"hgvs_c": "c.2281T>C",
"hgvs_p": "p.Phe761Leu",
"transcript": "ENST00000908095.1",
"protein_id": "ENSP00000578154.1",
"transcript_support_level": null,
"aa_start": 761,
"aa_end": null,
"aa_length": 1198,
"cds_start": 2281,
"cds_end": null,
"cds_length": 3597,
"cdna_start": 2720,
"cdna_end": null,
"cdna_length": 4272,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908095.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR3",
"gene_hgnc_id": 7451,
"hgvs_c": "c.2281T>C",
"hgvs_p": "p.Phe761Leu",
"transcript": "ENST00000908096.1",
"protein_id": "ENSP00000578155.1",
"transcript_support_level": null,
"aa_start": 761,
"aa_end": null,
"aa_length": 1198,
"cds_start": 2281,
"cds_end": null,
"cds_length": 3597,
"cdna_start": 2811,
"cdna_end": null,
"cdna_length": 4374,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908096.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR3",
"gene_hgnc_id": 7451,
"hgvs_c": "c.2281T>C",
"hgvs_p": "p.Phe761Leu",
"transcript": "ENST00000908097.1",
"protein_id": "ENSP00000578156.1",
"transcript_support_level": null,
"aa_start": 761,
"aa_end": null,
"aa_length": 1198,
"cds_start": 2281,
"cds_end": null,
"cds_length": 3597,
"cdna_start": 2547,
"cdna_end": null,
"cdna_length": 5919,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908097.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR3",
"gene_hgnc_id": 7451,
"hgvs_c": "c.2281T>C",
"hgvs_p": "p.Phe761Leu",
"transcript": "NM_153050.3",
"protein_id": "NP_694690.1",
"transcript_support_level": null,
"aa_start": 761,
"aa_end": null,
"aa_length": 1170,
"cds_start": 2281,
"cds_end": null,
"cds_length": 3513,
"cdna_start": 2604,
"cdna_end": null,
"cdna_length": 8903,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153050.3"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR3",
"gene_hgnc_id": 7451,
"hgvs_c": "c.2281T>C",
"hgvs_p": "p.Phe761Leu",
"transcript": "ENST00000333027.7",
"protein_id": "ENSP00000331649.3",
"transcript_support_level": 5,
"aa_start": 761,
"aa_end": null,
"aa_length": 1170,
"cds_start": 2281,
"cds_end": null,
"cds_length": 3513,
"cdna_start": 2609,
"cdna_end": null,
"cdna_length": 8906,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000333027.7"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR3",
"gene_hgnc_id": 7451,
"hgvs_c": "c.2281T>C",
"hgvs_p": "p.Phe761Leu",
"transcript": "ENST00000406629.1",
"protein_id": "ENSP00000384077.1",
"transcript_support_level": 5,
"aa_start": 761,
"aa_end": null,
"aa_length": 1170,
"cds_start": 2281,
"cds_end": null,
"cds_length": 3513,
"cdna_start": 2290,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406629.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR3",
"gene_hgnc_id": 7451,
"hgvs_c": "c.2281T>C",
"hgvs_p": "p.Phe761Leu",
"transcript": "NM_153051.3",
"protein_id": "NP_694691.1",
"transcript_support_level": null,
"aa_start": 761,
"aa_end": null,
"aa_length": 1161,
"cds_start": 2281,
"cds_end": null,
"cds_length": 3486,
"cdna_start": 2604,
"cdna_end": null,
"cdna_length": 8876,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153051.3"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR3",
"gene_hgnc_id": 7451,
"hgvs_c": "c.2281T>C",
"hgvs_p": "p.Phe761Leu",
"transcript": "ENST00000940445.1",
"protein_id": "ENSP00000610504.1",
"transcript_support_level": null,
"aa_start": 761,
"aa_end": null,
"aa_length": 1161,
"cds_start": 2281,
"cds_end": null,
"cds_length": 3486,
"cdna_start": 2748,
"cdna_end": null,
"cdna_length": 6011,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940445.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR3",
"gene_hgnc_id": 7451,
"hgvs_c": "c.2167T>C",
"hgvs_p": "p.Phe723Leu",
"transcript": "ENST00000908093.1",
"protein_id": "ENSP00000578152.1",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
"aa_length": 1160,
"cds_start": 2167,
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"cdna_start": 2463,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908093.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR3",
"gene_hgnc_id": 7451,
"hgvs_c": "c.2257T>C",
"hgvs_p": "p.Phe753Leu",
"transcript": "ENST00000908092.1",
"protein_id": "ENSP00000578151.1",
"transcript_support_level": null,
"aa_start": 753,
"aa_end": null,
"aa_length": 1153,
"cds_start": 2257,
"cds_end": null,
"cds_length": 3462,
"cdna_start": 2550,
"cdna_end": null,
"cdna_length": 5811,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908092.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR3",
"gene_hgnc_id": 7451,
"hgvs_c": "c.2281T>C",
"hgvs_p": "p.Phe761Leu",
"transcript": "ENST00000956490.1",
"protein_id": "ENSP00000626549.1",
"transcript_support_level": null,
"aa_start": 761,
"aa_end": null,
"aa_length": 1152,
"cds_start": 2281,
"cds_end": null,
"cds_length": 3459,
"cdna_start": 2588,
"cdna_end": null,
"cdna_length": 3938,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956490.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR3",
"gene_hgnc_id": 7451,
"hgvs_c": "c.1873T>C",
"hgvs_p": "p.Phe625Leu",
"transcript": "ENST00000323630.9",
"protein_id": "ENSP00000318070.5",
"transcript_support_level": 5,
"aa_start": 625,
"aa_end": null,
"aa_length": 1062,
"cds_start": 1873,
"cds_end": null,
"cds_length": 3189,
"cdna_start": 2493,
"cdna_end": null,
"cdna_length": 5866,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000323630.9"
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "HORMAD2-AS1",
"gene_hgnc_id": 50729,
"hgvs_c": "n.416-1211A>G",
"hgvs_p": null,
"transcript": "ENST00000429350.6",
"protein_id": null,
"transcript_support_level": 3,
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{
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{
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{
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],
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{
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],
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},
{
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],
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"gene_symbol": "HORMAD2-AS1",
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},
{
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"consequences": [
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],
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"gene_symbol": "HORMAD2-AS1",
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"transcript": "NR_110541.2",
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"biotype": "pseudogene",
"feature": "NR_110541.2"
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],
"gene_symbol": "MTMR3",
"gene_hgnc_id": 7451,
"dbsnp": "rs139080545",
"frequency_reference_population": 0.000006814774,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.00000273618,
"gnomad_genomes_af": 0.0000459776,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03436550498008728,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.205,
"revel_prediction": "Benign",
"alphamissense_score": 0.2299,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.042,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_021090.4",
"gene_symbol": "MTMR3",
"hgnc_id": 7451,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2281T>C",
"hgvs_p": "p.Phe761Leu"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000429350.6",
"gene_symbol": "HORMAD2-AS1",
"hgnc_id": 50729,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.416-1211A>G",
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}