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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: 7-100093380-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=100093380&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 100093380,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_005916.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM7",
"gene_hgnc_id": 6950,
"hgvs_c": "c.1870G>A",
"hgvs_p": "p.Val624Met",
"transcript": "NM_005916.5",
"protein_id": "NP_005907.3",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 719,
"cds_start": 1870,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000303887.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005916.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM7",
"gene_hgnc_id": 6950,
"hgvs_c": "c.1870G>A",
"hgvs_p": "p.Val624Met",
"transcript": "ENST00000303887.10",
"protein_id": "ENSP00000307288.5",
"transcript_support_level": 1,
"aa_start": 624,
"aa_end": null,
"aa_length": 719,
"cds_start": 1870,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005916.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000303887.10"
},
{
"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": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "MCM7",
"gene_hgnc_id": 6950,
"hgvs_c": "c.986-264G>A",
"hgvs_p": null,
"transcript": "ENST00000343023.10",
"protein_id": "ENSP00000344006.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 389,
"cds_start": null,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000343023.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM7",
"gene_hgnc_id": 6950,
"hgvs_c": "n.2591G>A",
"hgvs_p": null,
"transcript": "ENST00000489841.6",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000489841.6"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM7",
"gene_hgnc_id": 6950,
"hgvs_c": "c.1918G>A",
"hgvs_p": "p.Val640Met",
"transcript": "ENST00000919122.1",
"protein_id": "ENSP00000589181.1",
"transcript_support_level": null,
"aa_start": 640,
"aa_end": null,
"aa_length": 735,
"cds_start": 1918,
"cds_end": null,
"cds_length": 2208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919122.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM7",
"gene_hgnc_id": 6950,
"hgvs_c": "c.1864G>A",
"hgvs_p": "p.Val622Met",
"transcript": "ENST00000919119.1",
"protein_id": "ENSP00000589178.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 717,
"cds_start": 1864,
"cds_end": null,
"cds_length": 2154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919119.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM7",
"gene_hgnc_id": 6950,
"hgvs_c": "c.1861G>A",
"hgvs_p": "p.Val621Met",
"transcript": "ENST00000907652.1",
"protein_id": "ENSP00000577711.1",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 716,
"cds_start": 1861,
"cds_end": null,
"cds_length": 2151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907652.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM7",
"gene_hgnc_id": 6950,
"hgvs_c": "c.1843G>A",
"hgvs_p": "p.Val615Met",
"transcript": "ENST00000919120.1",
"protein_id": "ENSP00000589179.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 710,
"cds_start": 1843,
"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": "ENST00000919120.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM7",
"gene_hgnc_id": 6950,
"hgvs_c": "c.1825G>A",
"hgvs_p": "p.Val609Met",
"transcript": "ENST00000919124.1",
"protein_id": "ENSP00000589183.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 704,
"cds_start": 1825,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919124.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM7",
"gene_hgnc_id": 6950,
"hgvs_c": "c.1786G>A",
"hgvs_p": "p.Val596Met",
"transcript": "ENST00000919121.1",
"protein_id": "ENSP00000589180.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 691,
"cds_start": 1786,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919121.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM7",
"gene_hgnc_id": 6950,
"hgvs_c": "c.1549G>A",
"hgvs_p": "p.Val517Met",
"transcript": "NM_001439271.1",
"protein_id": "NP_001426200.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 612,
"cds_start": 1549,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439271.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM7",
"gene_hgnc_id": 6950,
"hgvs_c": "c.1549G>A",
"hgvs_p": "p.Val517Met",
"transcript": "NM_001439272.1",
"protein_id": "NP_001426201.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 612,
"cds_start": 1549,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439272.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM7",
"gene_hgnc_id": 6950,
"hgvs_c": "c.1549G>A",
"hgvs_p": "p.Val517Met",
"transcript": "NM_001439273.1",
"protein_id": "NP_001426202.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 612,
"cds_start": 1549,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439273.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM7",
"gene_hgnc_id": 6950,
"hgvs_c": "c.1549G>A",
"hgvs_p": "p.Val517Met",
"transcript": "ENST00000425308.6",
"protein_id": "ENSP00000411295.2",
"transcript_support_level": 3,
"aa_start": 517,
"aa_end": null,
"aa_length": 612,
"cds_start": 1549,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000425308.6"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM7",
"gene_hgnc_id": 6950,
"hgvs_c": "c.1549G>A",
"hgvs_p": "p.Val517Met",
"transcript": "ENST00000710813.1",
"protein_id": "ENSP00000518500.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 612,
"cds_start": 1549,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000710813.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM7",
"gene_hgnc_id": 6950,
"hgvs_c": "c.1549G>A",
"hgvs_p": "p.Val517Met",
"transcript": "ENST00000710815.1",
"protein_id": "ENSP00000518502.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 612,
"cds_start": 1549,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000710815.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM7",
"gene_hgnc_id": 6950,
"hgvs_c": "c.1342G>A",
"hgvs_p": "p.Val448Met",
"transcript": "NM_001278595.2",
"protein_id": "NP_001265524.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 543,
"cds_start": 1342,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278595.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM7",
"gene_hgnc_id": 6950,
"hgvs_c": "c.1342G>A",
"hgvs_p": "p.Val448Met",
"transcript": "NM_182776.3",
"protein_id": "NP_877577.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 543,
"cds_start": 1342,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182776.3"
},
{
"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": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "MCM7",
"gene_hgnc_id": 6950,
"hgvs_c": "c.1849-54G>A",
"hgvs_p": null,
"transcript": "ENST00000919123.1",
"protein_id": "ENSP00000589182.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 694,
"cds_start": null,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919123.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM7",
"gene_hgnc_id": 6950,
"hgvs_c": "n.2482G>A",
"hgvs_p": null,
"transcript": "ENST00000485286.6",
"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": "ENST00000485286.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM7",
"gene_hgnc_id": 6950,
"hgvs_c": "n.469G>A",
"hgvs_p": null,
"transcript": "ENST00000493352.1",
"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": "ENST00000493352.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM7",
"gene_hgnc_id": 6950,
"hgvs_c": "n.1628G>A",
"hgvs_p": null,
"transcript": "ENST00000710814.1",
"protein_id": "ENSP00000518501.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000710814.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
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"intron_rank": null,
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"cds_length": 984,
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"cdna_length": null,
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"biotype": "protein_coding",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
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"exon_count": 11,
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"intron_rank_end": null,
"gene_symbol": "COPS6",
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"hgvs_c": "c.*385C>T",
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"transcript": "ENST00000908038.1",
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000908038.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 1,
"intron_rank": null,
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"gene_symbol": "MIR25",
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"transcript": "ENST00000384816.1",
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"transcript_support_level": 6,
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"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": "miRNA",
"feature": "ENST00000384816.1"
},
{
"aa_ref": null,
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"protein_coding": false,
"strand": true,
"consequences": [
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],
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"exon_count": 1,
"intron_rank": null,
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"gene_symbol": "MIR25",
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"transcript": "NR_029498.1",
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"cdna_length": null,
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"biotype": "pseudogene",
"feature": "NR_029498.1"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
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"exon_count": 1,
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"gene_symbol": "MIR25",
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"hgvs_c": "n.*191G>A",
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"transcript": "unassigned_transcript_1279",
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"biotype": "miRNA",
"feature": "unassigned_transcript_1279"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
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"exon_count": 1,
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"gene_symbol": "MIR25",
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"hgvs_c": "n.*230G>A",
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"transcript": "unassigned_transcript_1280",
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"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "miRNA",
"feature": "unassigned_transcript_1280"
}
],
"gene_symbol": "MCM7",
"gene_hgnc_id": 6950,
"dbsnp": "rs377697159",
"frequency_reference_population": 0.0000020522223,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205222,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1455180048942566,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.114,
"revel_prediction": "Benign",
"alphamissense_score": 0.0819,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.74,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.092,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_005916.5",
"gene_symbol": "MCM7",
"hgnc_id": 6950,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1870G>A",
"hgvs_p": "p.Val624Met"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000908037.1",
"gene_symbol": "COPS6",
"hgnc_id": 21749,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*505C>T",
"hgvs_p": null
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NR_029498.1",
"gene_symbol": "MIR25",
"hgnc_id": 31609,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*180G>A",
"hgvs_p": null
}
],
"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
}