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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: 16-2520887-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=2520887&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 2520887,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001145815.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMDHD2",
"gene_hgnc_id": 24262,
"hgvs_c": "c.202A>G",
"hgvs_p": "p.Ile68Val",
"transcript": "NM_001330449.2",
"protein_id": "NP_001317378.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 409,
"cds_start": 202,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000293971.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330449.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMDHD2",
"gene_hgnc_id": 24262,
"hgvs_c": "c.202A>G",
"hgvs_p": "p.Ile68Val",
"transcript": "ENST00000293971.11",
"protein_id": "ENSP00000293971.6",
"transcript_support_level": 1,
"aa_start": 68,
"aa_end": null,
"aa_length": 409,
"cds_start": 202,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001330449.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000293971.11"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMDHD2",
"gene_hgnc_id": 24262,
"hgvs_c": "c.202A>G",
"hgvs_p": "p.Ile68Val",
"transcript": "ENST00000302956.8",
"protein_id": "ENSP00000307481.4",
"transcript_support_level": 1,
"aa_start": 68,
"aa_end": null,
"aa_length": 439,
"cds_start": 202,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000302956.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000259784",
"gene_hgnc_id": null,
"hgvs_c": "c.80-97A>G",
"hgvs_p": null,
"transcript": "ENST00000569317.1",
"protein_id": "ENSP00000455561.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 151,
"cds_start": null,
"cds_end": null,
"cds_length": 457,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000569317.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMDHD2",
"gene_hgnc_id": 24262,
"hgvs_c": "c.202A>G",
"hgvs_p": "p.Ile68Val",
"transcript": "NM_001145815.2",
"protein_id": "NP_001139287.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 594,
"cds_start": 202,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145815.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMDHD2",
"gene_hgnc_id": 24262,
"hgvs_c": "c.202A>G",
"hgvs_p": "p.Ile68Val",
"transcript": "ENST00000413459.7",
"protein_id": "ENSP00000391596.3",
"transcript_support_level": 2,
"aa_start": 68,
"aa_end": null,
"aa_length": 594,
"cds_start": 202,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000413459.7"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMDHD2",
"gene_hgnc_id": 24262,
"hgvs_c": "c.202A>G",
"hgvs_p": "p.Ile68Val",
"transcript": "ENST00000872243.1",
"protein_id": "ENSP00000542302.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 440,
"cds_start": 202,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872243.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMDHD2",
"gene_hgnc_id": 24262,
"hgvs_c": "c.202A>G",
"hgvs_p": "p.Ile68Val",
"transcript": "NM_015944.4",
"protein_id": "NP_057028.2",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 439,
"cds_start": 202,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015944.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMDHD2",
"gene_hgnc_id": 24262,
"hgvs_c": "c.202A>G",
"hgvs_p": "p.Ile68Val",
"transcript": "ENST00000872245.1",
"protein_id": "ENSP00000542304.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 436,
"cds_start": 202,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872245.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMDHD2",
"gene_hgnc_id": 24262,
"hgvs_c": "c.202A>G",
"hgvs_p": "p.Ile68Val",
"transcript": "ENST00000872244.1",
"protein_id": "ENSP00000542303.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 410,
"cds_start": 202,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872244.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMDHD2",
"gene_hgnc_id": 24262,
"hgvs_c": "c.202A>G",
"hgvs_p": "p.Ile68Val",
"transcript": "NM_001410943.1",
"protein_id": "NP_001397872.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 386,
"cds_start": 202,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410943.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMDHD2",
"gene_hgnc_id": 24262,
"hgvs_c": "c.202A>G",
"hgvs_p": "p.Ile68Val",
"transcript": "ENST00000648227.1",
"protein_id": "ENSP00000498048.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 386,
"cds_start": 202,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648227.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMDHD2",
"gene_hgnc_id": 24262,
"hgvs_c": "c.202A>G",
"hgvs_p": "p.Ile68Val",
"transcript": "ENST00000872246.1",
"protein_id": "ENSP00000542305.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 375,
"cds_start": 202,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872246.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMDHD2",
"gene_hgnc_id": 24262,
"hgvs_c": "c.202A>G",
"hgvs_p": "p.Ile68Val",
"transcript": "ENST00000872247.1",
"protein_id": "ENSP00000542306.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 360,
"cds_start": 202,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872247.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMDHD2",
"gene_hgnc_id": 24262,
"hgvs_c": "c.202A>G",
"hgvs_p": "p.Ile68Val",
"transcript": "ENST00000915809.1",
"protein_id": "ENSP00000585868.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 352,
"cds_start": 202,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915809.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMDHD2",
"gene_hgnc_id": 24262,
"hgvs_c": "c.202A>G",
"hgvs_p": "p.Ile68Val",
"transcript": "ENST00000566706.5",
"protein_id": "ENSP00000456898.1",
"transcript_support_level": 5,
"aa_start": 68,
"aa_end": null,
"aa_length": 299,
"cds_start": 202,
"cds_end": null,
"cds_length": 902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000566706.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMDHD2",
"gene_hgnc_id": 24262,
"hgvs_c": "c.202A>G",
"hgvs_p": "p.Ile68Val",
"transcript": "ENST00000569879.5",
"protein_id": "ENSP00000457398.1",
"transcript_support_level": 3,
"aa_start": 68,
"aa_end": null,
"aa_length": 295,
"cds_start": 202,
"cds_end": null,
"cds_length": 890,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000569879.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMDHD2",
"gene_hgnc_id": 24262,
"hgvs_c": "c.202A>G",
"hgvs_p": "p.Ile68Val",
"transcript": "ENST00000563556.1",
"protein_id": "ENSP00000456656.1",
"transcript_support_level": 4,
"aa_start": 68,
"aa_end": null,
"aa_length": 154,
"cds_start": 202,
"cds_end": null,
"cds_length": 467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000563556.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AMDHD2",
"gene_hgnc_id": 24262,
"hgvs_c": "c.-488-97A>G",
"hgvs_p": null,
"transcript": "ENST00000568263.5",
"protein_id": "ENSP00000457136.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 268,
"cds_start": null,
"cds_end": null,
"cds_length": 809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000568263.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AMDHD2",
"gene_hgnc_id": 24262,
"hgvs_c": "c.-488-97A>G",
"hgvs_p": null,
"transcript": "XM_017023267.3",
"protein_id": "XP_016878756.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 203,
"cds_start": null,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017023267.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMDHD2",
"gene_hgnc_id": 24262,
"hgvs_c": "n.202A>G",
"hgvs_p": null,
"transcript": "ENST00000563633.5",
"protein_id": "ENSP00000457021.1",
"transcript_support_level": 5,
"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": "ENST00000563633.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "AMDHD2",
"gene_hgnc_id": 24262,
"hgvs_c": "n.271A>G",
"hgvs_p": null,
"transcript": "ENST00000565963.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000565963.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMDHD2",
"gene_hgnc_id": 24262,
"hgvs_c": "n.260A>G",
"hgvs_p": null,
"transcript": "ENST00000567475.5",
"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": "ENST00000567475.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "AMDHD2",
"gene_hgnc_id": 24262,
"hgvs_c": "n.258A>G",
"hgvs_p": null,
"transcript": "ENST00000569219.1",
"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": "ENST00000569219.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMDHD2",
"gene_hgnc_id": 24262,
"hgvs_c": "c.-274A>G",
"hgvs_p": null,
"transcript": "XM_017023266.3",
"protein_id": "XP_016878755.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 276,
"cds_start": null,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017023266.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMDHD2",
"gene_hgnc_id": 24262,
"hgvs_c": "c.-274A>G",
"hgvs_p": null,
"transcript": "XM_047434190.1",
"protein_id": "XP_047290146.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 246,
"cds_start": null,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434190.1"
}
],
"gene_symbol": "AMDHD2",
"gene_hgnc_id": 24262,
"dbsnp": null,
"frequency_reference_population": 6.8596137e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.85961e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7251533269882202,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.265,
"revel_prediction": "Benign",
"alphamissense_score": 0.1563,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.817,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": "NM_001145815.2",
"gene_symbol": "AMDHD2",
"hgnc_id": 24262,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.202A>G",
"hgvs_p": "p.Ile68Val"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000569317.1",
"gene_symbol": "ENSG00000259784",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.80-97A>G",
"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
}