← Back to variant description
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: 16-8768866-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=8768866&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 8768866,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000268251.13",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.709G>A",
"hgvs_p": "p.Asp237Asn",
"transcript": "NM_020686.6",
"protein_id": "NP_065737.2",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 500,
"cds_start": 709,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 845,
"cdna_end": null,
"cdna_length": 4779,
"mane_select": "ENST00000268251.13",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.709G>A",
"hgvs_p": "p.Asp237Asn",
"transcript": "ENST00000268251.13",
"protein_id": "ENSP00000268251.8",
"transcript_support_level": 1,
"aa_start": 237,
"aa_end": null,
"aa_length": 500,
"cds_start": 709,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 845,
"cdna_end": null,
"cdna_length": 4779,
"mane_select": "NM_020686.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.709G>A",
"hgvs_p": "p.Asp237Asn",
"transcript": "ENST00000569156.5",
"protein_id": "ENSP00000454963.1",
"transcript_support_level": 1,
"aa_start": 237,
"aa_end": null,
"aa_length": 515,
"cds_start": 709,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 966,
"cdna_end": null,
"cdna_length": 1911,
"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": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "n.*449G>A",
"hgvs_p": null,
"transcript": "ENST00000566590.5",
"protein_id": "ENSP00000455198.1",
"transcript_support_level": 1,
"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": 2423,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "n.*449G>A",
"hgvs_p": null,
"transcript": "ENST00000566590.5",
"protein_id": "ENSP00000455198.1",
"transcript_support_level": 1,
"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": 2423,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.805G>A",
"hgvs_p": "p.Asp269Asn",
"transcript": "NM_001386615.1",
"protein_id": "NP_001373544.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 532,
"cds_start": 805,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 4875,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.709G>A",
"hgvs_p": "p.Asp237Asn",
"transcript": "NM_001386616.1",
"protein_id": "NP_001373545.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 515,
"cds_start": 709,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 972,
"cdna_end": null,
"cdna_length": 4965,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.754G>A",
"hgvs_p": "p.Asp252Asn",
"transcript": "ENST00000567812.5",
"protein_id": "ENSP00000456330.1",
"transcript_support_level": 2,
"aa_start": 252,
"aa_end": null,
"aa_length": 515,
"cds_start": 754,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 1016,
"cdna_end": null,
"cdna_length": 1959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.709G>A",
"hgvs_p": "p.Asp237Asn",
"transcript": "NM_000663.5",
"protein_id": "NP_000654.2",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 500,
"cds_start": 709,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 1036,
"cdna_end": null,
"cdna_length": 4970,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.709G>A",
"hgvs_p": "p.Asp237Asn",
"transcript": "NM_001127448.2",
"protein_id": "NP_001120920.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 500,
"cds_start": 709,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 972,
"cdna_end": null,
"cdna_length": 4906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.709G>A",
"hgvs_p": "p.Asp237Asn",
"transcript": "NM_001386600.1",
"protein_id": "NP_001373529.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 500,
"cds_start": 709,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 1529,
"cdna_end": null,
"cdna_length": 5463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.709G>A",
"hgvs_p": "p.Asp237Asn",
"transcript": "NM_001386601.1",
"protein_id": "NP_001373530.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 500,
"cds_start": 709,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 1073,
"cdna_end": null,
"cdna_length": 5007,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.709G>A",
"hgvs_p": "p.Asp237Asn",
"transcript": "NM_001386602.1",
"protein_id": "NP_001373531.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 500,
"cds_start": 709,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 946,
"cdna_end": null,
"cdna_length": 4880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.709G>A",
"hgvs_p": "p.Asp237Asn",
"transcript": "NM_001386603.1",
"protein_id": "NP_001373532.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 500,
"cds_start": 709,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 1194,
"cdna_end": null,
"cdna_length": 5128,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.709G>A",
"hgvs_p": "p.Asp237Asn",
"transcript": "NM_001386604.1",
"protein_id": "NP_001373533.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 500,
"cds_start": 709,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 1239,
"cdna_end": null,
"cdna_length": 5173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.709G>A",
"hgvs_p": "p.Asp237Asn",
"transcript": "ENST00000396600.6",
"protein_id": "ENSP00000379845.2",
"transcript_support_level": 5,
"aa_start": 237,
"aa_end": null,
"aa_length": 500,
"cds_start": 709,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 1647,
"cdna_end": null,
"cdna_length": 5586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.709G>A",
"hgvs_p": "p.Asp237Asn",
"transcript": "ENST00000425191.6",
"protein_id": "ENSP00000411916.2",
"transcript_support_level": 2,
"aa_start": 237,
"aa_end": null,
"aa_length": 500,
"cds_start": 709,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 969,
"cdna_end": null,
"cdna_length": 1923,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.709G>A",
"hgvs_p": "p.Asp237Asn",
"transcript": "NM_001386605.1",
"protein_id": "NP_001373534.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 487,
"cds_start": 709,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 845,
"cdna_end": null,
"cdna_length": 4740,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.646G>A",
"hgvs_p": "p.Asp216Asn",
"transcript": "NM_001386606.1",
"protein_id": "NP_001373535.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 479,
"cds_start": 646,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 973,
"cdna_end": null,
"cdna_length": 4907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.646G>A",
"hgvs_p": "p.Asp216Asn",
"transcript": "NM_001386607.1",
"protein_id": "NP_001373536.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 479,
"cds_start": 646,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 782,
"cdna_end": null,
"cdna_length": 4716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.616G>A",
"hgvs_p": "p.Asp206Asn",
"transcript": "NM_001386608.1",
"protein_id": "NP_001373537.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 469,
"cds_start": 616,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 752,
"cdna_end": null,
"cdna_length": 4686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.709G>A",
"hgvs_p": "p.Asp237Asn",
"transcript": "NM_001386609.1",
"protein_id": "NP_001373538.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 458,
"cds_start": 709,
"cds_end": null,
"cds_length": 1377,
"cdna_start": 845,
"cdna_end": null,
"cdna_length": 4667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.574G>A",
"hgvs_p": "p.Asp192Asn",
"transcript": "NM_001386610.1",
"protein_id": "NP_001373539.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 455,
"cds_start": 574,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 710,
"cdna_end": null,
"cdna_length": 4644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.574G>A",
"hgvs_p": "p.Asp192Asn",
"transcript": "NM_001386611.1",
"protein_id": "NP_001373540.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 455,
"cds_start": 574,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 734,
"cdna_end": null,
"cdna_length": 4668,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"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": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.511G>A",
"hgvs_p": "p.Asp171Asn",
"transcript": "NM_001386612.1",
"protein_id": "NP_001373541.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 434,
"cds_start": 511,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 671,
"cdna_end": null,
"cdna_length": 4605,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"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": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.511G>A",
"hgvs_p": "p.Asp171Asn",
"transcript": "NM_001386613.1",
"protein_id": "NP_001373542.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 434,
"cds_start": 511,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 862,
"cdna_end": null,
"cdna_length": 4796,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"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": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.463G>A",
"hgvs_p": "p.Asp155Asn",
"transcript": "NM_001386614.1",
"protein_id": "NP_001373543.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 418,
"cds_start": 463,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 599,
"cdna_end": null,
"cdna_length": 4533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.709G>A",
"hgvs_p": "p.Asp237Asn",
"transcript": "XM_047433685.1",
"protein_id": "XP_047289641.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 500,
"cds_start": 709,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 7470,
"cdna_end": null,
"cdna_length": 11404,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.709G>A",
"hgvs_p": "p.Asp237Asn",
"transcript": "XM_047433686.1",
"protein_id": "XP_047289642.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 500,
"cds_start": 709,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 7047,
"cdna_end": null,
"cdna_length": 10981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.709G>A",
"hgvs_p": "p.Asp237Asn",
"transcript": "XM_047433687.1",
"protein_id": "XP_047289643.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 500,
"cds_start": 709,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 7112,
"cdna_end": null,
"cdna_length": 11046,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.709G>A",
"hgvs_p": "p.Asp237Asn",
"transcript": "XM_047433688.1",
"protein_id": "XP_047289644.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 500,
"cds_start": 709,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 6767,
"cdna_end": null,
"cdna_length": 10701,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "n.*20G>A",
"hgvs_p": null,
"transcript": "ENST00000564453.1",
"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": 572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"dbsnp": "rs786205496",
"frequency_reference_population": 0.0000020521493,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205215,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9509471654891968,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.887,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8038,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.964,
"phylop100way_prediction": "Pathogenic",
"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": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong,PP5_Moderate",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000268251.13",
"gene_symbol": "ABAT",
"hgnc_id": 23,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.709G>A",
"hgvs_p": "p.Asp237Asn"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}