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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: 8-38252980-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=38252980&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 38252980,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000397166.7",
"consequences": [
{
"aa_ref": "M",
"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": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.1744A>T",
"hgvs_p": "p.Met582Leu",
"transcript": "NM_015214.3",
"protein_id": "NP_056029.2",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 711,
"cds_start": 1744,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 2027,
"cdna_end": null,
"cdna_length": 4682,
"mane_select": "ENST00000397166.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": true,
"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": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.1744A>T",
"hgvs_p": "p.Met582Leu",
"transcript": "ENST00000397166.7",
"protein_id": "ENSP00000380352.2",
"transcript_support_level": 2,
"aa_start": 582,
"aa_end": null,
"aa_length": 711,
"cds_start": 1744,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 2027,
"cdna_end": null,
"cdna_length": 4682,
"mane_select": "NM_015214.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"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": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.1744A>T",
"hgvs_p": "p.Met582Leu",
"transcript": "NM_001164232.2",
"protein_id": "NP_001157704.1",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 711,
"cds_start": 1744,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 1944,
"cdna_end": null,
"cdna_length": 4599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"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": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.1744A>T",
"hgvs_p": "p.Met582Leu",
"transcript": "NM_001362911.2",
"protein_id": "NP_001349840.1",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 711,
"cds_start": 1744,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 2027,
"cdna_end": null,
"cdna_length": 3675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"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": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.1744A>T",
"hgvs_p": "p.Met582Leu",
"transcript": "NM_001362912.2",
"protein_id": "NP_001349841.1",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 711,
"cds_start": 1744,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 2027,
"cdna_end": null,
"cdna_length": 4649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"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": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.1744A>T",
"hgvs_p": "p.Met582Leu",
"transcript": "NM_001362914.2",
"protein_id": "NP_001349843.1",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 711,
"cds_start": 1744,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 2080,
"cdna_end": null,
"cdna_length": 4735,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"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": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.1744A>T",
"hgvs_p": "p.Met582Leu",
"transcript": "ENST00000520272.6",
"protein_id": "ENSP00000429932.2",
"transcript_support_level": 2,
"aa_start": 582,
"aa_end": null,
"aa_length": 711,
"cds_start": 1744,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 1944,
"cdna_end": null,
"cdna_length": 4532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.1654A>T",
"hgvs_p": "p.Met552Leu",
"transcript": "NM_001362913.2",
"protein_id": "NP_001349842.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 681,
"cds_start": 1654,
"cds_end": null,
"cds_length": 2046,
"cdna_start": 1937,
"cdna_end": null,
"cdna_length": 4592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.601A>T",
"hgvs_p": "p.Met201Leu",
"transcript": "ENST00000517385.5",
"protein_id": "ENSP00000429017.1",
"transcript_support_level": 2,
"aa_start": 201,
"aa_end": null,
"aa_length": 330,
"cds_start": 601,
"cds_end": null,
"cds_length": 993,
"cdna_start": 1528,
"cdna_end": null,
"cdna_length": 4113,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.247A>T",
"hgvs_p": "p.Met83Leu",
"transcript": "ENST00000526144.1",
"protein_id": "ENSP00000437029.1",
"transcript_support_level": 2,
"aa_start": 83,
"aa_end": null,
"aa_length": 212,
"cds_start": 247,
"cds_end": null,
"cds_length": 639,
"cdna_start": 249,
"cdna_end": null,
"cdna_length": 774,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.97A>T",
"hgvs_p": "p.Met33Leu",
"transcript": "ENST00000529845.5",
"protein_id": "ENSP00000431638.1",
"transcript_support_level": 5,
"aa_start": 33,
"aa_end": null,
"aa_length": 162,
"cds_start": 97,
"cds_end": null,
"cds_length": 489,
"cdna_start": 409,
"cdna_end": null,
"cdna_length": 945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"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": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.1744A>T",
"hgvs_p": "p.Met582Leu",
"transcript": "XM_011544456.3",
"protein_id": "XP_011542758.1",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 711,
"cds_start": 1744,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 2027,
"cdna_end": null,
"cdna_length": 8480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"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": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.1744A>T",
"hgvs_p": "p.Met582Leu",
"transcript": "XM_047421614.1",
"protein_id": "XP_047277570.1",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 711,
"cds_start": 1744,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 2027,
"cdna_end": null,
"cdna_length": 5020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.1654A>T",
"hgvs_p": "p.Met552Leu",
"transcript": "XM_047421615.1",
"protein_id": "XP_047277571.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 681,
"cds_start": 1654,
"cds_end": null,
"cds_length": 2046,
"cdna_start": 1990,
"cdna_end": null,
"cdna_length": 4645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.1654A>T",
"hgvs_p": "p.Met552Leu",
"transcript": "XM_047421616.1",
"protein_id": "XP_047277572.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 681,
"cds_start": 1654,
"cds_end": null,
"cds_length": 2046,
"cdna_start": 1937,
"cdna_end": null,
"cdna_length": 4559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "c.1654A>T",
"hgvs_p": "p.Met552Leu",
"transcript": "XM_047421617.1",
"protein_id": "XP_047277573.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 681,
"cds_start": 1654,
"cds_end": null,
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"cdna_start": 1937,
"cdna_end": null,
"cdna_length": 3585,
"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": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "n.2533A>T",
"hgvs_p": null,
"transcript": "ENST00000520176.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 3165,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "n.204A>T",
"hgvs_p": null,
"transcript": "ENST00000524545.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 699,
"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": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "n.736A>T",
"hgvs_p": null,
"transcript": "ENST00000528504.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 830,
"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": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "n.1959A>T",
"hgvs_p": null,
"transcript": "NR_156416.2",
"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,
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"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": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "n.1959A>T",
"hgvs_p": null,
"transcript": "NR_156417.2",
"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": 3607,
"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": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "n.2027A>T",
"hgvs_p": null,
"transcript": "XR_001745504.3",
"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": 2878,
"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": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"hgvs_c": "n.2027A>T",
"hgvs_p": null,
"transcript": "XR_007060723.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
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],
"exon_rank": 15,
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"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
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"hgvs_c": "n.2027A>T",
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"transcript": "XR_007060724.1",
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"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 19,
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"gene_symbol": "DDHD2",
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"transcript": "XR_007060725.1",
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"feature": null
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
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"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
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"hgvs_c": "n.1937A>T",
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"transcript": "XR_007060726.1",
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"cds_start": -4,
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"cdna_length": 2850,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDHD2",
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"hgvs_c": "n.*183A>T",
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"transcript": "ENST00000528148.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 266,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DDHD2",
"gene_hgnc_id": 29106,
"dbsnp": "rs375064450",
"frequency_reference_population": 0.000087977554,
"hom_count_reference_population": 1,
"allele_count_reference_population": 142,
"gnomad_exomes_af": 0.0000882448,
"gnomad_genomes_af": 0.0000854106,
"gnomad_exomes_ac": 129,
"gnomad_genomes_ac": 13,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3094557523727417,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.232,
"revel_prediction": "Benign",
"alphamissense_score": 0.4379,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.217,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000397166.7",
"gene_symbol": "DDHD2",
"hgnc_id": 29106,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1744A>T",
"hgvs_p": "p.Met582Leu"
}
],
"clinvar_disease": "Hereditary spastic paraplegia 54,Inborn genetic diseases,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "not specified|Inborn genetic diseases|Hereditary spastic paraplegia 54",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}