← 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: 20-13534052-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=13534052&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "message": null,
  "variants": [
    {
      "acmg_by_gene": [
        {
          "benign_score": 12,
          "criteria": [
            "BP4_Moderate",
            "BP6",
            "BP7",
            "BS1",
            "BS2"
          ],
          "effects": [
            "synonymous_variant"
          ],
          "gene_symbol": "TASP1",
          "hgnc_id": 15859,
          "hgvs_c": "c.765G>A",
          "hgvs_p": "p.Leu255Leu",
          "inheritance_mode": "AR",
          "pathogenic_score": 0,
          "score": -12,
          "transcript": "NM_017714.3",
          "verdict": "Benign"
        }
      ],
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Moderate,BP6,BP7,BS1,BS2",
      "acmg_score": -12,
      "allele_count_reference_population": 5995,
      "alphamissense_prediction": null,
      "alphamissense_score": null,
      "alt": "T",
      "apogee2_prediction": null,
      "apogee2_score": null,
      "bayesdelnoaf_prediction": "Benign",
      "bayesdelnoaf_score": -0.35,
      "chr": "20",
      "clinvar_classification": "Benign",
      "clinvar_disease": "TASP1-related disorder",
      "clinvar_review_status": "no assertion criteria provided",
      "clinvar_submissions_summary": "null",
      "computational_prediction_selected": "Benign",
      "computational_score_selected": -0.3499999940395355,
      "computational_source_selected": "BayesDel_noAF",
      "consequences": [
        {
          "aa_alt": "L",
          "aa_end": null,
          "aa_length": 420,
          "aa_ref": "L",
          "aa_start": 255,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2342,
          "cdna_start": 878,
          "cds_end": null,
          "cds_length": 1263,
          "cds_start": 765,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 14,
          "exon_rank": 9,
          "exon_rank_end": null,
          "feature": "NM_017714.3",
          "gene_hgnc_id": 15859,
          "gene_symbol": "TASP1",
          "hgvs_c": "c.765G>A",
          "hgvs_p": "p.Leu255Leu",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": "ENST00000337743.9",
          "protein_coding": true,
          "protein_id": "NP_060184.2",
          "strand": false,
          "transcript": "NM_017714.3",
          "transcript_support_level": null
        },
        {
          "aa_alt": "L",
          "aa_end": null,
          "aa_length": 420,
          "aa_ref": "L",
          "aa_start": 255,
          "biotype": "protein_coding",
          "canonical": true,
          "cdna_end": null,
          "cdna_length": 2342,
          "cdna_start": 878,
          "cds_end": null,
          "cds_length": 1263,
          "cds_start": 765,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 14,
          "exon_rank": 9,
          "exon_rank_end": null,
          "feature": "ENST00000337743.9",
          "gene_hgnc_id": 15859,
          "gene_symbol": "TASP1",
          "hgvs_c": "c.765G>A",
          "hgvs_p": "p.Leu255Leu",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": "NM_017714.3",
          "protein_coding": true,
          "protein_id": "ENSP00000338624.4",
          "strand": false,
          "transcript": "ENST00000337743.9",
          "transcript_support_level": 1
        },
        {
          "aa_alt": "L",
          "aa_end": null,
          "aa_length": 450,
          "aa_ref": "L",
          "aa_start": 255,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2393,
          "cdna_start": 839,
          "cds_end": null,
          "cds_length": 1353,
          "cds_start": 765,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 14,
          "exon_rank": 8,
          "exon_rank_end": null,
          "feature": "ENST00000961261.1",
          "gene_hgnc_id": 15859,
          "gene_symbol": "TASP1",
          "hgvs_c": "c.765G>A",
          "hgvs_p": "p.Leu255Leu",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000631320.1",
          "strand": false,
          "transcript": "ENST00000961261.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "L",
          "aa_end": null,
          "aa_length": 420,
          "aa_ref": "L",
          "aa_start": 255,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2951,
          "cdna_start": 984,
          "cds_end": null,
          "cds_length": 1263,
          "cds_start": 765,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 15,
          "exon_rank": 10,
          "exon_rank_end": null,
          "feature": "ENST00000861004.1",
          "gene_hgnc_id": 15859,
          "gene_symbol": "TASP1",
          "hgvs_c": "c.765G>A",
          "hgvs_p": "p.Leu255Leu",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000531063.1",
          "strand": false,
          "transcript": "ENST00000861004.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "L",
          "aa_end": null,
          "aa_length": 420,
          "aa_ref": "L",
          "aa_start": 255,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2652,
          "cdna_start": 1191,
          "cds_end": null,
          "cds_length": 1263,
          "cds_start": 765,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 14,
          "exon_rank": 9,
          "exon_rank_end": null,
          "feature": "ENST00000861007.1",
          "gene_hgnc_id": 15859,
          "gene_symbol": "TASP1",
          "hgvs_c": "c.765G>A",
          "hgvs_p": "p.Leu255Leu",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000531066.1",
          "strand": false,
          "transcript": "ENST00000861007.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "L",
          "aa_end": null,
          "aa_length": 420,
          "aa_ref": "L",
          "aa_start": 255,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2926,
          "cdna_start": 1462,
          "cds_end": null,
          "cds_length": 1263,
          "cds_start": 765,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 14,
          "exon_rank": 9,
          "exon_rank_end": null,
          "feature": "ENST00000861008.1",
          "gene_hgnc_id": 15859,
          "gene_symbol": "TASP1",
          "hgvs_c": "c.765G>A",
          "hgvs_p": "p.Leu255Leu",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000531067.1",
          "strand": false,
          "transcript": "ENST00000861008.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "L",
          "aa_end": null,
          "aa_length": 383,
          "aa_ref": "L",
          "aa_start": 255,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2233,
          "cdna_start": 882,
          "cds_end": null,
          "cds_length": 1152,
          "cds_start": 765,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 13,
          "exon_rank": 9,
          "exon_rank_end": null,
          "feature": "ENST00000939534.1",
          "gene_hgnc_id": 15859,
          "gene_symbol": "TASP1",
          "hgvs_c": "c.765G>A",
          "hgvs_p": "p.Leu255Leu",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000609593.1",
          "strand": false,
          "transcript": "ENST00000939534.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "L",
          "aa_end": null,
          "aa_length": 365,
          "aa_ref": "L",
          "aa_start": 200,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2177,
          "cdna_start": 713,
          "cds_end": null,
          "cds_length": 1098,
          "cds_start": 600,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 12,
          "exon_rank": 7,
          "exon_rank_end": null,
          "feature": "ENST00000939535.1",
          "gene_hgnc_id": 15859,
          "gene_symbol": "TASP1",
          "hgvs_c": "c.600G>A",
          "hgvs_p": "p.Leu200Leu",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000609594.1",
          "strand": false,
          "transcript": "ENST00000939535.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "L",
          "aa_end": null,
          "aa_length": 353,
          "aa_ref": "L",
          "aa_start": 188,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2132,
          "cdna_start": 664,
          "cds_end": null,
          "cds_length": 1062,
          "cds_start": 564,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 12,
          "exon_rank": 7,
          "exon_rank_end": null,
          "feature": "ENST00000961257.1",
          "gene_hgnc_id": 15859,
          "gene_symbol": "TASP1",
          "hgvs_c": "c.564G>A",
          "hgvs_p": "p.Leu188Leu",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000631316.1",
          "strand": false,
          "transcript": "ENST00000961257.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "L",
          "aa_end": null,
          "aa_length": 318,
          "aa_ref": "L",
          "aa_start": 153,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2609,
          "cdna_start": 1145,
          "cds_end": null,
          "cds_length": 957,
          "cds_start": 459,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 15,
          "exon_rank": 10,
          "exon_rank_end": null,
          "feature": "NM_001323603.2",
          "gene_hgnc_id": 15859,
          "gene_symbol": "TASP1",
          "hgvs_c": "c.459G>A",
          "hgvs_p": "p.Leu153Leu",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_001310532.1",
          "strand": false,
          "transcript": "NM_001323603.2",
          "transcript_support_level": null
        },
        {
          "aa_alt": "L",
          "aa_end": null,
          "aa_length": 318,
          "aa_ref": "L",
          "aa_start": 153,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2417,
          "cdna_start": 953,
          "cds_end": null,
          "cds_length": 957,
          "cds_start": 459,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 15,
          "exon_rank": 10,
          "exon_rank_end": null,
          "feature": "NM_001323604.2",
          "gene_hgnc_id": 15859,
          "gene_symbol": "TASP1",
          "hgvs_c": "c.459G>A",
          "hgvs_p": "p.Leu153Leu",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_001310533.1",
          "strand": false,
          "transcript": "NM_001323604.2",
          "transcript_support_level": null
        },
        {
          "aa_alt": "L",
          "aa_end": null,
          "aa_length": 304,
          "aa_ref": "L",
          "aa_start": 232,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1000,
          "cdna_start": 780,
          "cds_end": null,
          "cds_length": 916,
          "cds_start": 696,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 10,
          "exon_rank": 8,
          "exon_rank_end": null,
          "feature": "ENST00000455532.5",
          "gene_hgnc_id": 15859,
          "gene_symbol": "TASP1",
          "hgvs_c": "c.696G>A",
          "hgvs_p": "p.Leu232Leu",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000400580.1",
          "strand": false,
          "transcript": "ENST00000455532.5",
          "transcript_support_level": 5
        },
        {
          "aa_alt": "L",
          "aa_end": null,
          "aa_length": 289,
          "aa_ref": "L",
          "aa_start": 124,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1949,
          "cdna_start": 485,
          "cds_end": null,
          "cds_length": 870,
          "cds_start": 372,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 10,
          "exon_rank": 5,
          "exon_rank_end": null,
          "feature": "NM_001323602.2",
          "gene_hgnc_id": 15859,
          "gene_symbol": "TASP1",
          "hgvs_c": "c.372G>A",
          "hgvs_p": "p.Leu124Leu",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_001310531.1",
          "strand": false,
          "transcript": "NM_001323602.2",
          "transcript_support_level": null
        },
        {
          "aa_alt": "L",
          "aa_end": null,
          "aa_length": 289,
          "aa_ref": "L",
          "aa_start": 124,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1965,
          "cdna_start": 499,
          "cds_end": null,
          "cds_length": 870,
          "cds_start": 372,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 10,
          "exon_rank": 5,
          "exon_rank_end": null,
          "feature": "ENST00000861005.1",
          "gene_hgnc_id": 15859,
          "gene_symbol": "TASP1",
          "hgvs_c": "c.372G>A",
          "hgvs_p": "p.Leu124Leu",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000531064.1",
          "strand": false,
          "transcript": "ENST00000861005.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "L",
          "aa_end": null,
          "aa_length": 289,
          "aa_ref": "L",
          "aa_start": 124,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1973,
          "cdna_start": 562,
          "cds_end": null,
          "cds_length": 870,
          "cds_start": 372,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 10,
          "exon_rank": 5,
          "exon_rank_end": null,
          "feature": "ENST00000939537.1",
          "gene_hgnc_id": 15859,
          "gene_symbol": "TASP1",
          "hgvs_c": "c.372G>A",
          "hgvs_p": "p.Leu124Leu",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000609596.1",
          "strand": false,
          "transcript": "ENST00000939537.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "L",
          "aa_end": null,
          "aa_length": 289,
          "aa_ref": "L",
          "aa_start": 124,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1934,
          "cdna_start": 525,
          "cds_end": null,
          "cds_length": 870,
          "cds_start": 372,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 10,
          "exon_rank": 5,
          "exon_rank_end": null,
          "feature": "ENST00000961260.1",
          "gene_hgnc_id": 15859,
          "gene_symbol": "TASP1",
          "hgvs_c": "c.372G>A",
          "hgvs_p": "p.Leu124Leu",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000631319.1",
          "strand": false,
          "transcript": "ENST00000961260.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "L",
          "aa_end": null,
          "aa_length": 420,
          "aa_ref": "L",
          "aa_start": 255,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2971,
          "cdna_start": 1507,
          "cds_end": null,
          "cds_length": 1263,
          "cds_start": 765,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 14,
          "exon_rank": 9,
          "exon_rank_end": null,
          "feature": "XM_047440267.1",
          "gene_hgnc_id": 15859,
          "gene_symbol": "TASP1",
          "hgvs_c": "c.765G>A",
          "hgvs_p": "p.Leu255Leu",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "XP_047296223.1",
          "strand": false,
          "transcript": "XM_047440267.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "L",
          "aa_end": null,
          "aa_length": 420,
          "aa_ref": "L",
          "aa_start": 255,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2681,
          "cdna_start": 1217,
          "cds_end": null,
          "cds_length": 1263,
          "cds_start": 765,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 14,
          "exon_rank": 9,
          "exon_rank_end": null,
          "feature": "XM_047440268.1",
          "gene_hgnc_id": 15859,
          "gene_symbol": "TASP1",
          "hgvs_c": "c.765G>A",
          "hgvs_p": "p.Leu255Leu",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "XP_047296224.1",
          "strand": false,
          "transcript": "XM_047440268.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "L",
          "aa_end": null,
          "aa_length": 397,
          "aa_ref": "L",
          "aa_start": 255,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 16860,
          "cdna_start": 878,
          "cds_end": null,
          "cds_length": 1194,
          "cds_start": 765,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 14,
          "exon_rank": 9,
          "exon_rank_end": null,
          "feature": "XM_047440269.1",
          "gene_hgnc_id": 15859,
          "gene_symbol": "TASP1",
          "hgvs_c": "c.765G>A",
          "hgvs_p": "p.Leu255Leu",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "XP_047296225.1",
          "strand": false,
          "transcript": "XM_047440269.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "L",
          "aa_end": null,
          "aa_length": 350,
          "aa_ref": "L",
          "aa_start": 255,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1230,
          "cdna_start": 878,
          "cds_end": null,
          "cds_length": 1053,
          "cds_start": 765,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 13,
          "exon_rank": 9,
          "exon_rank_end": null,
          "feature": "XM_047440270.1",
          "gene_hgnc_id": 15859,
          "gene_symbol": "TASP1",
          "hgvs_c": "c.765G>A",
          "hgvs_p": "p.Leu255Leu",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "XP_047296226.1",
          "strand": false,
          "transcript": "XM_047440270.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "L",
          "aa_end": null,
          "aa_length": 338,
          "aa_ref": "L",
          "aa_start": 255,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1194,
          "cdna_start": 878,
          "cds_end": null,
          "cds_length": 1017,
          "cds_start": 765,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 12,
          "exon_rank": 9,
          "exon_rank_end": null,
          "feature": "XM_047440271.1",
          "gene_hgnc_id": 15859,
          "gene_symbol": "TASP1",
          "hgvs_c": "c.765G>A",
          "hgvs_p": "p.Leu255Leu",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "XP_047296227.1",
          "strand": false,
          "transcript": "XM_047440271.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "L",
          "aa_end": null,
          "aa_length": 338,
          "aa_ref": "L",
          "aa_start": 255,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1213,
          "cdna_start": 878,
          "cds_end": null,
          "cds_length": 1017,
          "cds_start": 765,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 13,
          "exon_rank": 9,
          "exon_rank_end": null,
          "feature": "XM_047440272.1",
          "gene_hgnc_id": 15859,
          "gene_symbol": "TASP1",
          "hgvs_c": "c.765G>A",
          "hgvs_p": "p.Leu255Leu",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "XP_047296228.1",
          "strand": false,
          "transcript": "XM_047440272.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "L",
          "aa_end": null,
          "aa_length": 318,
          "aa_ref": "L",
          "aa_start": 153,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2105,
          "cdna_start": 641,
          "cds_end": null,
          "cds_length": 957,
          "cds_start": 459,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 12,
          "exon_rank": 7,
          "exon_rank_end": null,
          "feature": "XM_047440273.1",
          "gene_hgnc_id": 15859,
          "gene_symbol": "TASP1",
          "hgvs_c": "c.459G>A",
          "hgvs_p": "p.Leu153Leu",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "XP_047296229.1",
          "strand": false,
          "transcript": "XM_047440273.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "L",
          "aa_end": null,
          "aa_length": 318,
          "aa_ref": "L",
          "aa_start": 153,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2190,
          "cdna_start": 726,
          "cds_end": null,
          "cds_length": 957,
          "cds_start": 459,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 12,
          "exon_rank": 7,
          "exon_rank_end": null,
          "feature": "XM_047440274.1",
          "gene_hgnc_id": 15859,
          "gene_symbol": "TASP1",
          "hgvs_c": "c.459G>A",
          "hgvs_p": "p.Leu153Leu",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "XP_047296230.1",
          "strand": false,
          "transcript": "XM_047440274.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "L",
          "aa_end": null,
          "aa_length": 289,
          "aa_ref": "L",
          "aa_start": 124,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2288,
          "cdna_start": 824,
          "cds_end": null,
          "cds_length": 870,
          "cds_start": 372,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 10,
          "exon_rank": 5,
          "exon_rank_end": null,
          "feature": "XM_047440275.1",
          "gene_hgnc_id": 15859,
          "gene_symbol": "TASP1",
          "hgvs_c": "c.372G>A",
          "hgvs_p": "p.Leu124Leu",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "XP_047296231.1",
          "strand": false,
          "transcript": "XM_047440275.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "L",
          "aa_end": null,
          "aa_length": 234,
          "aa_ref": "L",
          "aa_start": 69,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1829,
          "cdna_start": 365,
          "cds_end": null,
          "cds_length": 705,
          "cds_start": 207,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_count": 9,
          "exon_rank": 4,
          "exon_rank_end": null,
          "feature": "XM_047440276.1",
          "gene_hgnc_id": 15859,
          "gene_symbol": "TASP1",
          "hgvs_c": "c.207G>A",
          "hgvs_p": "p.Leu69Leu",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "XP_047296232.1",
          "strand": false,
          "transcript": "XM_047440276.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": 318,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2040,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": 957,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 11,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000861006.1",
          "gene_hgnc_id": 15859,
          "gene_symbol": "TASP1",
          "hgvs_c": "c.568+35455G>A",
          "hgvs_p": null,
          "intron_rank": 7,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000531065.1",
          "strand": false,
          "transcript": "ENST00000861006.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": 263,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1858,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": 792,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 9,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000961258.1",
          "gene_hgnc_id": 15859,
          "gene_symbol": "TASP1",
          "hgvs_c": "c.404-50715G>A",
          "hgvs_p": null,
          "intron_rank": 5,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000631317.1",
          "strand": false,
          "transcript": "ENST00000961258.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": 249,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1809,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": 750,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 9,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000961259.1",
          "gene_hgnc_id": 15859,
          "gene_symbol": "TASP1",
          "hgvs_c": "c.283-5541G>A",
          "hgvs_p": null,
          "intron_rank": 4,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000631318.1",
          "strand": false,
          "transcript": "ENST00000961259.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": 161,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1545,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": 486,
          "cds_start": null,
          "consequences": [
            "intron_variant"
          ],
          "exon_count": 6,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000939536.1",
          "gene_hgnc_id": 15859,
          "gene_symbol": "TASP1",
          "hgvs_c": "c.283-50715G>A",
          "hgvs_p": null,
          "intron_rank": 4,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000609595.1",
          "strand": false,
          "transcript": "ENST00000939536.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": null,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "pseudogene",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 993,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": null,
          "cds_start": null,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_count": 10,
          "exon_rank": 7,
          "exon_rank_end": null,
          "feature": "ENST00000465381.5",
          "gene_hgnc_id": 15859,
          "gene_symbol": "TASP1",
          "hgvs_c": "n.662G>A",
          "hgvs_p": null,
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": false,
          "protein_id": null,
          "strand": false,
          "transcript": "ENST00000465381.5",
          "transcript_support_level": 5
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": null,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "pseudogene",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2302,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": null,
          "cds_start": null,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_count": 14,
          "exon_rank": 9,
          "exon_rank_end": null,
          "feature": "ENST00000480436.5",
          "gene_hgnc_id": 15859,
          "gene_symbol": "TASP1",
          "hgvs_c": "n.849G>A",
          "hgvs_p": null,
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": false,
          "protein_id": null,
          "strand": false,
          "transcript": "ENST00000480436.5",
          "transcript_support_level": 5
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": null,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "pseudogene",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2222,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": null,
          "cds_start": null,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_count": 13,
          "exon_rank": 8,
          "exon_rank_end": null,
          "feature": "NR_136628.2",
          "gene_hgnc_id": 15859,
          "gene_symbol": "TASP1",
          "hgvs_c": "n.771G>A",
          "hgvs_p": null,
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": false,
          "protein_id": null,
          "strand": false,
          "transcript": "NR_136628.2",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": null,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "pseudogene",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2155,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": null,
          "cds_start": null,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_count": 12,
          "exon_rank": 7,
          "exon_rank_end": null,
          "feature": "NR_136629.2",
          "gene_hgnc_id": 15859,
          "gene_symbol": "TASP1",
          "hgvs_c": "n.691G>A",
          "hgvs_p": null,
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": false,
          "protein_id": null,
          "strand": false,
          "transcript": "NR_136629.2",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": null,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "pseudogene",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2409,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": null,
          "cds_start": null,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_count": 13,
          "exon_rank": 8,
          "exon_rank_end": null,
          "feature": "NR_136630.2",
          "gene_hgnc_id": 15859,
          "gene_symbol": "TASP1",
          "hgvs_c": "n.958G>A",
          "hgvs_p": null,
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": false,
          "protein_id": null,
          "strand": false,
          "transcript": "NR_136630.2",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": null,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "pseudogene",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 2489,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": null,
          "cds_start": null,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_count": 14,
          "exon_rank": 9,
          "exon_rank_end": null,
          "feature": "NR_136631.2",
          "gene_hgnc_id": 15859,
          "gene_symbol": "TASP1",
          "hgvs_c": "n.1038G>A",
          "hgvs_p": null,
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": false,
          "protein_id": null,
          "strand": false,
          "transcript": "NR_136631.2",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": null,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "pseudogene",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 1855,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": null,
          "cds_start": null,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_count": 15,
          "exon_rank": 9,
          "exon_rank_end": null,
          "feature": "XR_001754319.3",
          "gene_hgnc_id": 15859,
          "gene_symbol": "TASP1",
          "hgvs_c": "n.878G>A",
          "hgvs_p": null,
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": false,
          "protein_id": null,
          "strand": false,
          "transcript": "XR_001754319.3",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": null,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "pseudogene",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 35426,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": null,
          "cds_start": null,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_count": 15,
          "exon_rank": 9,
          "exon_rank_end": null,
          "feature": "XR_007067463.1",
          "gene_hgnc_id": 15859,
          "gene_symbol": "TASP1",
          "hgvs_c": "n.878G>A",
          "hgvs_p": null,
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": false,
          "protein_id": null,
          "strand": false,
          "transcript": "XR_007067463.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": null,
          "aa_end": null,
          "aa_length": 256,
          "aa_ref": null,
          "aa_start": null,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 982,
          "cdna_start": null,
          "cds_end": null,
          "cds_length": 771,
          "cds_start": null,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_count": 10,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "XM_017027929.3",
          "gene_hgnc_id": 15859,
          "gene_symbol": "TASP1",
          "hgvs_c": "c.*103G>A",
          "hgvs_p": null,
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "XP_016883418.1",
          "strand": true,
          "transcript": "XM_017027929.3",
          "transcript_support_level": null
        }
      ],
      "custom_annotations": null,
      "dbscsnv_ada_prediction": null,
      "dbscsnv_ada_score": null,
      "dbsnp": "rs145022707",
      "effect": "synonymous_variant",
      "frequency_reference_population": 0.0037157326,
      "gene_hgnc_id": 15859,
      "gene_symbol": "TASP1",
      "gnomad_exomes_ac": 5502,
      "gnomad_exomes_af": 0.00376535,
      "gnomad_exomes_homalt": 35,
      "gnomad_genomes_ac": 493,
      "gnomad_genomes_af": 0.00323937,
      "gnomad_genomes_homalt": 2,
      "gnomad_mito_heteroplasmic": null,
      "gnomad_mito_homoplasmic": null,
      "hom_count_reference_population": 37,
      "mitotip_prediction": null,
      "mitotip_score": null,
      "pathogenicity_classification_combined": "Benign",
      "phenotype_combined": "TASP1-related disorder",
      "phylop100way_prediction": "Benign",
      "phylop100way_score": 1.04,
      "pos": 13534052,
      "ref": "C",
      "revel_prediction": null,
      "revel_score": null,
      "splice_prediction_selected": "Benign",
      "splice_score_selected": 0,
      "splice_source_selected": "max_spliceai",
      "spliceai_max_prediction": "Benign",
      "spliceai_max_score": 0,
      "transcript": "NM_017714.3"
    }
  ]
}
For research and educational, non-commercial use only. Not for clinical or diagnostic use. GeneBe does not provide medical advice. Data use for AI modeling is prohibited: if used, the cost is $0.001 per byte of downloaded uncompressed data.