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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-78011199-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=78011199&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 78011199,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000341514.11",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7A",
"gene_hgnc_id": 869,
"hgvs_c": "c.1893G>C",
"hgvs_p": "p.Leu631Phe",
"transcript": "NM_000052.7",
"protein_id": "NP_000043.4",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 1500,
"cds_start": 1893,
"cds_end": null,
"cds_length": 4503,
"cdna_start": 2057,
"cdna_end": null,
"cdna_length": 8492,
"mane_select": "ENST00000341514.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7A",
"gene_hgnc_id": 869,
"hgvs_c": "c.1893G>C",
"hgvs_p": "p.Leu631Phe",
"transcript": "ENST00000341514.11",
"protein_id": "ENSP00000345728.6",
"transcript_support_level": 1,
"aa_start": 631,
"aa_end": null,
"aa_length": 1500,
"cds_start": 1893,
"cds_end": null,
"cds_length": 4503,
"cdna_start": 2057,
"cdna_end": null,
"cdna_length": 8492,
"mane_select": "NM_000052.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7A",
"gene_hgnc_id": 869,
"hgvs_c": "c.1986G>C",
"hgvs_p": "p.Leu662Phe",
"transcript": "ENST00000689767.1",
"protein_id": "ENSP00000509406.1",
"transcript_support_level": null,
"aa_start": 662,
"aa_end": null,
"aa_length": 1531,
"cds_start": 1986,
"cds_end": null,
"cds_length": 4596,
"cdna_start": 2134,
"cdna_end": null,
"cdna_length": 8569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7A",
"gene_hgnc_id": 869,
"hgvs_c": "c.1923G>C",
"hgvs_p": "p.Leu641Phe",
"transcript": "ENST00000343533.10",
"protein_id": "ENSP00000343026.6",
"transcript_support_level": 5,
"aa_start": 641,
"aa_end": null,
"aa_length": 1510,
"cds_start": 1923,
"cds_end": null,
"cds_length": 4533,
"cdna_start": 2113,
"cdna_end": null,
"cdna_length": 8548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7A",
"gene_hgnc_id": 869,
"hgvs_c": "c.1893G>C",
"hgvs_p": "p.Leu631Phe",
"transcript": "ENST00000685264.1",
"protein_id": "ENSP00000510136.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 1500,
"cds_start": 1893,
"cds_end": null,
"cds_length": 4503,
"cdna_start": 2085,
"cdna_end": null,
"cdna_length": 4984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7A",
"gene_hgnc_id": 869,
"hgvs_c": "c.1893G>C",
"hgvs_p": "p.Leu631Phe",
"transcript": "ENST00000686133.1",
"protein_id": "ENSP00000509233.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 1500,
"cds_start": 1893,
"cds_end": null,
"cds_length": 4503,
"cdna_start": 2064,
"cdna_end": null,
"cdna_length": 5003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7A",
"gene_hgnc_id": 869,
"hgvs_c": "c.1893G>C",
"hgvs_p": "p.Leu631Phe",
"transcript": "ENST00000687086.1",
"protein_id": "ENSP00000509566.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 1500,
"cds_start": 1893,
"cds_end": null,
"cds_length": 4503,
"cdna_start": 2206,
"cdna_end": null,
"cdna_length": 5092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7A",
"gene_hgnc_id": 869,
"hgvs_c": "c.1893G>C",
"hgvs_p": "p.Leu631Phe",
"transcript": "ENST00000686033.1",
"protein_id": "ENSP00000510693.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 1435,
"cds_start": 1893,
"cds_end": null,
"cds_length": 4308,
"cdna_start": 2011,
"cdna_end": null,
"cdna_length": 4755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7A",
"gene_hgnc_id": 869,
"hgvs_c": "c.1893G>C",
"hgvs_p": "p.Leu631Phe",
"transcript": "NM_001282224.2",
"protein_id": "NP_001269153.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 1422,
"cds_start": 1893,
"cds_end": null,
"cds_length": 4269,
"cdna_start": 2057,
"cdna_end": null,
"cdna_length": 8258,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7A",
"gene_hgnc_id": 869,
"hgvs_c": "c.1893G>C",
"hgvs_p": "p.Leu631Phe",
"transcript": "ENST00000686543.1",
"protein_id": "ENSP00000509477.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 1422,
"cds_start": 1893,
"cds_end": null,
"cds_length": 4269,
"cdna_start": 2011,
"cdna_end": null,
"cdna_length": 4716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7A",
"gene_hgnc_id": 869,
"hgvs_c": "c.1893G>C",
"hgvs_p": "p.Leu631Phe",
"transcript": "ENST00000692908.1",
"protein_id": "ENSP00000508627.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 1422,
"cds_start": 1893,
"cds_end": null,
"cds_length": 4269,
"cdna_start": 2203,
"cdna_end": null,
"cdna_length": 4908,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7A",
"gene_hgnc_id": 869,
"hgvs_c": "c.1893G>C",
"hgvs_p": "p.Leu631Phe",
"transcript": "ENST00000689530.1",
"protein_id": "ENSP00000509707.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 971,
"cds_start": 1893,
"cds_end": null,
"cds_length": 2916,
"cdna_start": 2227,
"cdna_end": null,
"cdna_length": 3250,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7A",
"gene_hgnc_id": 869,
"hgvs_c": "c.1893G>C",
"hgvs_p": "p.Leu631Phe",
"transcript": "ENST00000686688.1",
"protein_id": "ENSP00000509416.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 929,
"cds_start": 1893,
"cds_end": null,
"cds_length": 2790,
"cdna_start": 2055,
"cdna_end": null,
"cdna_length": 3050,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7A",
"gene_hgnc_id": 869,
"hgvs_c": "c.1893G>C",
"hgvs_p": "p.Leu631Phe",
"transcript": "ENST00000693398.1",
"protein_id": "ENSP00000510089.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 929,
"cds_start": 1893,
"cds_end": null,
"cds_length": 2790,
"cdna_start": 2009,
"cdna_end": null,
"cdna_length": 3000,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7A",
"gene_hgnc_id": 869,
"hgvs_c": "c.1893G>C",
"hgvs_p": "p.Leu631Phe",
"transcript": "ENST00000689649.1",
"protein_id": "ENSP00000509277.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 844,
"cds_start": 1893,
"cds_end": null,
"cds_length": 2535,
"cdna_start": 2011,
"cdna_end": null,
"cdna_length": 3268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7A",
"gene_hgnc_id": 869,
"hgvs_c": "c.1893G>C",
"hgvs_p": "p.Leu631Phe",
"transcript": "ENST00000686480.1",
"protein_id": "ENSP00000508978.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 766,
"cds_start": 1893,
"cds_end": null,
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"cdna_start": 2011,
"cdna_end": null,
"cdna_length": 3115,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7A",
"gene_hgnc_id": 869,
"hgvs_c": "c.1809G>C",
"hgvs_p": "p.Leu603Phe",
"transcript": "ENST00000692110.1",
"protein_id": "ENSP00000509366.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 695,
"cds_start": 1809,
"cds_end": null,
"cds_length": 2088,
"cdna_start": 1923,
"cdna_end": null,
"cdna_length": 2202,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7A",
"gene_hgnc_id": 869,
"hgvs_c": "n.*1807G>C",
"hgvs_p": null,
"transcript": "ENST00000645094.1",
"protein_id": "ENSP00000493605.1",
"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": 4019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7A",
"gene_hgnc_id": 869,
"hgvs_c": "n.348G>C",
"hgvs_p": null,
"transcript": "ENST00000682475.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 6274,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7A",
"gene_hgnc_id": 869,
"hgvs_c": "n.728G>C",
"hgvs_p": null,
"transcript": "ENST00000686255.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7359,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7A",
"gene_hgnc_id": 869,
"hgvs_c": "n.2033G>C",
"hgvs_p": null,
"transcript": "ENST00000686515.1",
"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": 2605,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7A",
"gene_hgnc_id": 869,
"hgvs_c": "n.2204G>C",
"hgvs_p": null,
"transcript": "ENST00000686999.1",
"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": 2834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7A",
"gene_hgnc_id": 869,
"hgvs_c": "n.3906G>C",
"hgvs_p": null,
"transcript": "ENST00000687628.1",
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{
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"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
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"exon_count": 9,
"intron_rank": null,
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},
{
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"canonical": false,
"protein_coding": false,
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"consequences": [
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"gene_symbol": "ATP7A",
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"transcript": "ENST00000645094.1",
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"cds_end": null,
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"cdna_start": null,
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"cdna_length": 4019,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
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"gene_symbol": "PGK1",
"gene_hgnc_id": 8896,
"hgvs_c": "c.-19-98668G>C",
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"transcript": "ENST00000644362.1",
"protein_id": "ENSP00000496140.1",
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"aa_end": null,
"aa_length": 389,
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"cds_length": 1170,
"cdna_start": null,
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"cdna_length": 2405,
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 9,
"intron_rank": 6,
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"gene_symbol": "ATP7A",
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"hgvs_c": "n.1870-250G>C",
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"transcript": "ENST00000689872.1",
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"cdna_length": 5842,
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 10,
"intron_rank": 2,
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"gene_symbol": "ATP7A",
"gene_hgnc_id": 869,
"hgvs_c": "n.285-20201G>C",
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"transcript": "NR_104109.2",
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"cdna_length": 5501,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "ATP7A",
"gene_hgnc_id": 869,
"dbsnp": "rs372898963",
"frequency_reference_population": 0.00018052036,
"hom_count_reference_population": 80,
"allele_count_reference_population": 218,
"gnomad_exomes_af": 0.000193342,
"gnomad_genomes_af": 0.0000539971,
"gnomad_exomes_ac": 212,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8719530701637268,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.777,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.2575,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.12,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 1.627,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM1,PP3_Moderate,BP6,BS2",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 5,
"pathogenic_score": 4,
"criteria": [
"PM1",
"PP3_Moderate",
"BP6",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000341514.11",
"gene_symbol": "ATP7A",
"hgnc_id": 869,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL,AD",
"hgvs_c": "c.1893G>C",
"hgvs_p": "p.Leu631Phe"
},
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PP3_Moderate",
"BP6",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000644362.1",
"gene_symbol": "PGK1",
"hgnc_id": 8896,
"effects": [
"intron_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.-19-98668G>C",
"hgvs_p": null
}
],
"clinvar_disease": " X-linked,Cutis laxa,Inborn genetic diseases,Menkes kinky-hair syndrome,X-linked distal spinal muscular atrophy type 3,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:2",
"phenotype_combined": "not provided|Menkes kinky-hair syndrome;Cutis laxa, X-linked;X-linked distal spinal muscular atrophy type 3|Inborn genetic diseases",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}