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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: 8-85333605-AGT-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=85333605&ref=AGT&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 85333605,
"ref": "AGT",
"alt": "A",
"effect": "frameshift_variant",
"transcript": "ENST00000523022.6",
"consequences": [
{
"aa_ref": "H",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA1",
"gene_hgnc_id": 1368,
"hgvs_c": "c.368_369delAC",
"hgvs_p": "p.His123fs",
"transcript": "NM_001128831.4",
"protein_id": "NP_001122303.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 261,
"cds_start": 368,
"cds_end": null,
"cds_length": 786,
"cdna_start": 461,
"cdna_end": null,
"cdna_length": 1830,
"mane_select": "ENST00000523022.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA1",
"gene_hgnc_id": 1368,
"hgvs_c": "c.368_369delAC",
"hgvs_p": "p.His123fs",
"transcript": "ENST00000523022.6",
"protein_id": "ENSP00000429798.1",
"transcript_support_level": 1,
"aa_start": 123,
"aa_end": null,
"aa_length": 261,
"cds_start": 368,
"cds_end": null,
"cds_length": 786,
"cdna_start": 461,
"cdna_end": null,
"cdna_length": 1830,
"mane_select": "NM_001128831.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA1",
"gene_hgnc_id": 1368,
"hgvs_c": "c.368_369delAC",
"hgvs_p": "p.His123fs",
"transcript": "ENST00000523953.5",
"protein_id": "ENSP00000430656.1",
"transcript_support_level": 1,
"aa_start": 123,
"aa_end": null,
"aa_length": 261,
"cds_start": 368,
"cds_end": null,
"cds_length": 786,
"cdna_start": 1416,
"cdna_end": null,
"cdna_length": 2785,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA1",
"gene_hgnc_id": 1368,
"hgvs_c": "c.368_369delAC",
"hgvs_p": "p.His123fs",
"transcript": "ENST00000517618.5",
"protein_id": "ENSP00000430861.1",
"transcript_support_level": 1,
"aa_start": 123,
"aa_end": null,
"aa_length": 250,
"cds_start": 368,
"cds_end": null,
"cds_length": 753,
"cdna_start": 448,
"cdna_end": null,
"cdna_length": 832,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA1",
"gene_hgnc_id": 1368,
"hgvs_c": "c.368_369delAC",
"hgvs_p": "p.His123fs",
"transcript": "NM_001128829.4",
"protein_id": "NP_001122301.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 261,
"cds_start": 368,
"cds_end": null,
"cds_length": 786,
"cdna_start": 536,
"cdna_end": null,
"cdna_length": 1905,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA1",
"gene_hgnc_id": 1368,
"hgvs_c": "c.368_369delAC",
"hgvs_p": "p.His123fs",
"transcript": "NM_001128830.4",
"protein_id": "NP_001122302.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 261,
"cds_start": 368,
"cds_end": null,
"cds_length": 786,
"cdna_start": 538,
"cdna_end": null,
"cdna_length": 1907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA1",
"gene_hgnc_id": 1368,
"hgvs_c": "c.368_369delAC",
"hgvs_p": "p.His123fs",
"transcript": "NM_001164830.2",
"protein_id": "NP_001158302.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 261,
"cds_start": 368,
"cds_end": null,
"cds_length": 786,
"cdna_start": 448,
"cdna_end": null,
"cdna_length": 1817,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA1",
"gene_hgnc_id": 1368,
"hgvs_c": "c.368_369delAC",
"hgvs_p": "p.His123fs",
"transcript": "NM_001738.5",
"protein_id": "NP_001729.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 261,
"cds_start": 368,
"cds_end": null,
"cds_length": 786,
"cdna_start": 515,
"cdna_end": null,
"cdna_length": 1884,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA1",
"gene_hgnc_id": 1368,
"hgvs_c": "c.368_369delAC",
"hgvs_p": "p.His123fs",
"transcript": "ENST00000431316.3",
"protein_id": "ENSP00000392338.1",
"transcript_support_level": 5,
"aa_start": 123,
"aa_end": null,
"aa_length": 261,
"cds_start": 368,
"cds_end": null,
"cds_length": 786,
"cdna_start": 484,
"cdna_end": null,
"cdna_length": 1232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA1",
"gene_hgnc_id": 1368,
"hgvs_c": "c.368_369delAC",
"hgvs_p": "p.His123fs",
"transcript": "ENST00000542576.5",
"protein_id": "ENSP00000443517.1",
"transcript_support_level": 5,
"aa_start": 123,
"aa_end": null,
"aa_length": 261,
"cds_start": 368,
"cds_end": null,
"cds_length": 786,
"cdna_start": 488,
"cdna_end": null,
"cdna_length": 1236,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA1",
"gene_hgnc_id": 1368,
"hgvs_c": "c.170_171delAC",
"hgvs_p": "p.His57fs",
"transcript": "NM_001291967.2",
"protein_id": "NP_001278896.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 195,
"cds_start": 170,
"cds_end": null,
"cds_length": 588,
"cdna_start": 263,
"cdna_end": null,
"cdna_length": 1632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA1",
"gene_hgnc_id": 1368,
"hgvs_c": "c.170_171delAC",
"hgvs_p": "p.His57fs",
"transcript": "ENST00000524324.5",
"protein_id": "ENSP00000428923.1",
"transcript_support_level": 2,
"aa_start": 57,
"aa_end": null,
"aa_length": 193,
"cds_start": 170,
"cds_end": null,
"cds_length": 583,
"cdna_start": 263,
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"cdna_length": 675,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA1",
"gene_hgnc_id": 1368,
"hgvs_c": "c.176_177delAC",
"hgvs_p": "p.His59fs",
"transcript": "ENST00000521679.5",
"protein_id": "ENSP00000429300.1",
"transcript_support_level": 3,
"aa_start": 59,
"aa_end": null,
"aa_length": 177,
"cds_start": 176,
"cds_end": null,
"cds_length": 534,
"cdna_start": 178,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
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"gene_symbol": "CA1",
"gene_hgnc_id": 1368,
"hgvs_c": "c.368_369delAC",
"hgvs_p": "p.His123fs",
"transcript": "ENST00000517590.5",
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},
{
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"strand": false,
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],
"exon_rank": 7,
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"intron_rank": null,
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"gene_symbol": "CA1",
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"hgvs_c": "c.368_369delAC",
"hgvs_p": "p.His123fs",
"transcript": "ENST00000521846.5",
"protein_id": "ENSP00000430471.1",
"transcript_support_level": 3,
"aa_start": 123,
"aa_end": null,
"aa_length": 148,
"cds_start": 368,
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"cdna_start": 587,
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"cdna_length": 666,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "CA1",
"gene_hgnc_id": 1368,
"hgvs_c": "c.29_30delAC",
"hgvs_p": "p.His10fs",
"transcript": "NM_001291968.2",
"protein_id": "NP_001278897.1",
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},
{
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],
"exon_rank": 6,
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"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "CA1",
"gene_hgnc_id": 1368,
"hgvs_c": "c.368_369delAC",
"hgvs_p": "p.His123fs",
"transcript": "ENST00000522579.5",
"protein_id": "ENSP00000427852.1",
"transcript_support_level": 3,
"aa_start": 123,
"aa_end": null,
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"cds_start": 368,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA1",
"gene_hgnc_id": 1368,
"hgvs_c": "c.368_369delAC",
"hgvs_p": "p.His123fs",
"transcript": "ENST00000522814.5",
"protein_id": "ENSP00000430737.1",
"transcript_support_level": 3,
"aa_start": 123,
"aa_end": null,
"aa_length": 147,
"cds_start": 368,
"cds_end": null,
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"cdna_start": 542,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "CA1",
"gene_hgnc_id": 1368,
"hgvs_c": "c.29_30delAC",
"hgvs_p": "p.His10fs",
"transcript": "ENST00000519991.5",
"protein_id": "ENSP00000430543.1",
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},
{
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],
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"intron_rank": null,
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"gene_symbol": "CA1",
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"hgvs_c": "c.29_30delAC",
"hgvs_p": "p.His10fs",
"transcript": "ENST00000522389.5",
"protein_id": "ENSP00000427773.1",
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},
{
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"consequences": [
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],
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"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "CA1",
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"hgvs_c": "c.29_30delAC",
"hgvs_p": "p.His10fs",
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"protein_id": "ENSP00000486171.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA1",
"gene_hgnc_id": 1368,
"hgvs_c": "c.29_30delAC",
"hgvs_p": "p.His10fs",
"transcript": "ENST00000520663.5",
"protein_id": "ENSP00000430571.1",
"transcript_support_level": 3,
"aa_start": 10,
"aa_end": null,
"aa_length": 86,
"cds_start": 29,
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"cds_length": 263,
"cdna_start": 221,
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"cdna_length": 454,
"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": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA1",
"gene_hgnc_id": 1368,
"hgvs_c": "n.*173_*174delAC",
"hgvs_p": null,
"transcript": "ENST00000517429.5",
"protein_id": "ENSP00000430710.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
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],
"exon_rank": 2,
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"exon_count": 3,
"intron_rank": null,
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"transcript": "ENST00000518233.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
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"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "CA1",
"gene_hgnc_id": 1368,
"hgvs_c": "n.576_577delAC",
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"transcript": "ENST00000518341.5",
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"transcript_support_level": 2,
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"aa_end": null,
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"cds_start": -4,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"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": "CA1",
"gene_hgnc_id": 1368,
"hgvs_c": "n.282_283delAC",
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"transcript": "ENST00000523712.5",
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"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CA1",
"gene_hgnc_id": 1368,
"hgvs_c": "n.*173_*174delAC",
"hgvs_p": null,
"transcript": "ENST00000517429.5",
"protein_id": "ENSP00000430710.1",
"transcript_support_level": 5,
"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": 652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CA1",
"gene_hgnc_id": 1368,
"dbsnp": "rs768769200",
"frequency_reference_population": 0.0000041176327,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000411763,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 4.476,
"phylop100way_prediction": "Uncertain_significance",
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000523022.6",
"gene_symbol": "CA1",
"hgnc_id": 1368,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.368_369delAC",
"hgvs_p": "p.His123fs"
}
],
"clinvar_disease": "Metabolic acidosis,Renal tubular acidosis,Rickets",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Renal tubular acidosis;Rickets;Metabolic acidosis",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}