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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: 9-127868353-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=127868353&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 127868353,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000644144.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK1",
"gene_hgnc_id": 361,
"hgvs_c": "c.484G>A",
"hgvs_p": "p.Ala162Thr",
"transcript": "NM_000476.3",
"protein_id": "NP_000467.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 194,
"cds_start": 484,
"cds_end": null,
"cds_length": 585,
"cdna_start": 569,
"cdna_end": null,
"cdna_length": 2192,
"mane_select": "ENST00000644144.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK1",
"gene_hgnc_id": 361,
"hgvs_c": "c.484G>A",
"hgvs_p": "p.Ala162Thr",
"transcript": "ENST00000644144.2",
"protein_id": "ENSP00000494600.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 194,
"cds_start": 484,
"cds_end": null,
"cds_length": 585,
"cdna_start": 569,
"cdna_end": null,
"cdna_length": 2192,
"mane_select": "NM_000476.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000257524",
"gene_hgnc_id": null,
"hgvs_c": "n.*517G>A",
"hgvs_p": null,
"transcript": "ENST00000646171.1",
"protein_id": "ENSP00000495484.1",
"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": 1947,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000257524",
"gene_hgnc_id": null,
"hgvs_c": "n.*517G>A",
"hgvs_p": null,
"transcript": "ENST00000646171.1",
"protein_id": "ENSP00000495484.1",
"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": 1947,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK1",
"gene_hgnc_id": 361,
"hgvs_c": "c.532G>A",
"hgvs_p": "p.Ala178Thr",
"transcript": "NM_001318122.2",
"protein_id": "NP_001305051.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 210,
"cds_start": 532,
"cds_end": null,
"cds_length": 633,
"cdna_start": 564,
"cdna_end": null,
"cdna_length": 2187,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK1",
"gene_hgnc_id": 361,
"hgvs_c": "c.532G>A",
"hgvs_p": "p.Ala178Thr",
"transcript": "ENST00000223836.10",
"protein_id": "ENSP00000223836.10",
"transcript_support_level": 3,
"aa_start": 178,
"aa_end": null,
"aa_length": 210,
"cds_start": 532,
"cds_end": null,
"cds_length": 633,
"cdna_start": 628,
"cdna_end": null,
"cdna_length": 736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK1",
"gene_hgnc_id": 361,
"hgvs_c": "c.484G>A",
"hgvs_p": "p.Ala162Thr",
"transcript": "NM_001318121.1",
"protein_id": "NP_001305050.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 194,
"cds_start": 484,
"cds_end": null,
"cds_length": 585,
"cdna_start": 624,
"cdna_end": null,
"cdna_length": 2253,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK1",
"gene_hgnc_id": 361,
"hgvs_c": "c.484G>A",
"hgvs_p": "p.Ala162Thr",
"transcript": "ENST00000373156.5",
"protein_id": "ENSP00000362249.1",
"transcript_support_level": 3,
"aa_start": 162,
"aa_end": null,
"aa_length": 194,
"cds_start": 484,
"cds_end": null,
"cds_length": 585,
"cdna_start": 647,
"cdna_end": null,
"cdna_length": 757,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK1",
"gene_hgnc_id": 361,
"hgvs_c": "n.306G>A",
"hgvs_p": null,
"transcript": "ENST00000413016.5",
"protein_id": null,
"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": 525,
"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": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000257524",
"gene_hgnc_id": null,
"hgvs_c": "n.984G>A",
"hgvs_p": null,
"transcript": "ENST00000476274.7",
"protein_id": null,
"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": 1164,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK1",
"gene_hgnc_id": 361,
"hgvs_c": "n.*108G>A",
"hgvs_p": null,
"transcript": "ENST00000550143.5",
"protein_id": "ENSP00000449130.1",
"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": 532,
"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": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000257524",
"gene_hgnc_id": null,
"hgvs_c": "n.*2159G>A",
"hgvs_p": null,
"transcript": "ENST00000643029.1",
"protein_id": "ENSP00000496586.1",
"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": 3578,
"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": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000257524",
"gene_hgnc_id": null,
"hgvs_c": "n.*2048G>A",
"hgvs_p": null,
"transcript": "ENST00000643338.1",
"protein_id": "ENSP00000495890.1",
"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": 3418,
"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": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000257524",
"gene_hgnc_id": null,
"hgvs_c": "n.*2408G>A",
"hgvs_p": null,
"transcript": "ENST00000645007.1",
"protein_id": "ENSP00000494773.1",
"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": 3286,
"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": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST6GALNAC4-ST6GALNAC6-AK1",
"gene_hgnc_id": null,
"hgvs_c": "n.3803G>A",
"hgvs_p": null,
"transcript": "NR_174625.1",
"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": 5426,
"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": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST6GALNAC4-ST6GALNAC6-AK1",
"gene_hgnc_id": null,
"hgvs_c": "n.3646G>A",
"hgvs_p": null,
"transcript": "NR_174626.1",
"protein_id": null,
"transcript_support_level": null,
"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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"cdna_length": 5269,
"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": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST6GALNAC4-ST6GALNAC6-AK1",
"gene_hgnc_id": null,
"hgvs_c": "n.3683G>A",
"hgvs_p": null,
"transcript": "NR_174627.1",
"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": 5306,
"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": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST6GALNAC4-ST6GALNAC6-AK1",
"gene_hgnc_id": null,
"hgvs_c": "n.3061G>A",
"hgvs_p": null,
"transcript": "NR_174628.1",
"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": 4684,
"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": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST6GALNAC4-ST6GALNAC6-AK1",
"gene_hgnc_id": null,
"hgvs_c": "n.3006G>A",
"hgvs_p": null,
"transcript": "NR_174629.1",
"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": 4629,
"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": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST6GALNAC4-ST6GALNAC6-AK1",
"gene_hgnc_id": null,
"hgvs_c": "n.3042G>A",
"hgvs_p": null,
"transcript": "NR_174630.1",
"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": 4665,
"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": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST6GALNAC4-ST6GALNAC6-AK1",
"gene_hgnc_id": null,
"hgvs_c": "n.2987G>A",
"hgvs_p": null,
"transcript": "NR_174631.1",
"protein_id": null,
"transcript_support_level": null,
"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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"cdna_length": 4610,
"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": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST6GALNAC4-ST6GALNAC6-AK1",
"gene_hgnc_id": null,
"hgvs_c": "n.3076G>A",
"hgvs_p": null,
"transcript": "NR_174632.1",
"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": 4699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AK1",
"gene_hgnc_id": 361,
"hgvs_c": "n.*108G>A",
"hgvs_p": null,
"transcript": "ENST00000550143.5",
"protein_id": "ENSP00000449130.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
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},
{
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"protein_coding": false,
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"exon_count": 14,
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"transcript": "ENST00000643029.1",
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},
{
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"protein_coding": false,
"strand": false,
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"3_prime_UTR_variant"
],
"exon_rank": 12,
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"exon_count": 13,
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"gene_symbol": "ENSG00000257524",
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"hgvs_c": "n.*2048G>A",
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"transcript": "ENST00000643338.1",
"protein_id": "ENSP00000495890.1",
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
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"exon_count": 15,
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"gene_symbol": "ENSG00000257524",
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"hgvs_c": "n.*2408G>A",
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"transcript": "ENST00000645007.1",
"protein_id": "ENSP00000494773.1",
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
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"exon_count": 6,
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"gene_symbol": "AK1",
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"hgvs_c": "n.*504G>A",
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"transcript": "ENST00000550992.1",
"protein_id": "ENSP00000448741.1",
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}
],
"gene_symbol": "AK1",
"gene_hgnc_id": 361,
"dbsnp": "rs35902264",
"frequency_reference_population": 0.0027075869,
"hom_count_reference_population": 74,
"allele_count_reference_population": 4351,
"gnomad_exomes_af": 0.00220463,
"gnomad_genomes_af": 0.00751149,
"gnomad_exomes_ac": 3207,
"gnomad_genomes_ac": 1144,
"gnomad_exomes_homalt": 57,
"gnomad_genomes_homalt": 17,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.005394697189331055,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.107,
"revel_prediction": "Benign",
"alphamissense_score": 0.0821,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.104,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000644144.2",
"gene_symbol": "AK1",
"hgnc_id": 361,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.484G>A",
"hgvs_p": "p.Ala162Thr"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000646171.1",
"gene_symbol": "ENSG00000257524",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*517G>A",
"hgvs_p": null
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NR_174625.1",
"gene_symbol": "ST6GALNAC4-ST6GALNAC6-AK1",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.3803G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Hemolytic anemia due to adenylate kinase deficiency,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 B:1",
"phenotype_combined": "not provided|Hemolytic anemia due to adenylate kinase deficiency",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}