← 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: 3-76425934-G-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=76425934&ref=G&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "3",
      "pos": 76425934,
      "ref": "G",
      "alt": "C",
      "effect": "intron_variant",
      "transcript": "NM_001394212.1",
      "consequences": [
        {
          "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": 28,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ROBO2",
          "gene_hgnc_id": 10250,
          "hgvs_c": "c.130+114517G>C",
          "hgvs_p": null,
          "transcript": "NM_001394212.1",
          "protein_id": "NP_001381141.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1534,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4605,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8922,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 30,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ROBO2",
          "gene_hgnc_id": 10250,
          "hgvs_c": "c.109+488332G>C",
          "hgvs_p": null,
          "transcript": "NM_001378191.1",
          "protein_id": "NP_001365120.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1531,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4596,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8804,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 30,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ROBO2",
          "gene_hgnc_id": 10250,
          "hgvs_c": "c.109+488332G>C",
          "hgvs_p": null,
          "transcript": "ENST00000696630.1",
          "protein_id": "ENSP00000512767.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1531,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4596,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5618,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 28,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ROBO2",
          "gene_hgnc_id": 10250,
          "hgvs_c": "c.130+114517G>C",
          "hgvs_p": null,
          "transcript": "NM_001378192.1",
          "protein_id": "NP_001365121.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1496,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4491,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8808,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 29,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ROBO2",
          "gene_hgnc_id": 10250,
          "hgvs_c": "c.109+488332G>C",
          "hgvs_p": null,
          "transcript": "NM_001378190.1",
          "protein_id": "NP_001365119.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1489,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4470,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8678,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 28,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ROBO2",
          "gene_hgnc_id": 10250,
          "hgvs_c": "c.130+114517G>C",
          "hgvs_p": null,
          "transcript": "NM_001394213.1",
          "protein_id": "NP_001381142.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1447,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4344,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8661,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 28,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ROBO2",
          "gene_hgnc_id": 10250,
          "hgvs_c": "c.130+114517G>C",
          "hgvs_p": null,
          "transcript": "NM_001378194.1",
          "protein_id": "NP_001365123.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1442,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4329,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8643,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 27,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ROBO2",
          "gene_hgnc_id": 10250,
          "hgvs_c": "c.130+114517G>C",
          "hgvs_p": null,
          "transcript": "NM_001395657.1",
          "protein_id": "NP_001382586.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1441,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4326,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8640,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 29,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ROBO2",
          "gene_hgnc_id": 10250,
          "hgvs_c": "c.109+488332G>C",
          "hgvs_p": null,
          "transcript": "NM_001378195.1",
          "protein_id": "NP_001365124.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1440,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4323,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8531,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 29,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ROBO2",
          "gene_hgnc_id": 10250,
          "hgvs_c": "c.109+488332G>C",
          "hgvs_p": null,
          "transcript": "ENST00000696629.1",
          "protein_id": "ENSP00000512766.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1440,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4323,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4971,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 29,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ROBO2",
          "gene_hgnc_id": 10250,
          "hgvs_c": "c.109+488332G>C",
          "hgvs_p": null,
          "transcript": "NM_001378196.1",
          "protein_id": "NP_001365125.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1438,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4317,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8522,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 29,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ROBO2",
          "gene_hgnc_id": 10250,
          "hgvs_c": "c.109+488332G>C",
          "hgvs_p": null,
          "transcript": "ENST00000471893.2",
          "protein_id": "ENSP00000418190.2",
          "transcript_support_level": 4,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1438,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4317,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5843,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 27,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ROBO2",
          "gene_hgnc_id": 10250,
          "hgvs_c": "c.130+114517G>C",
          "hgvs_p": null,
          "transcript": "NM_001378198.1",
          "protein_id": "NP_001365127.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1405,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4218,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8535,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 27,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ROBO2",
          "gene_hgnc_id": 10250,
          "hgvs_c": "c.130+114517G>C",
          "hgvs_p": null,
          "transcript": "NM_001378199.1",
          "protein_id": "NP_001365128.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1403,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4212,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8526,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 27,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ROBO2",
          "gene_hgnc_id": 10250,
          "hgvs_c": "c.130+114517G>C",
          "hgvs_p": null,
          "transcript": "ENST00000475334.2",
          "protein_id": "ENSP00000418446.2",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1403,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4212,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5399,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 26,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ROBO2",
          "gene_hgnc_id": 10250,
          "hgvs_c": "c.130+114517G>C",
          "hgvs_p": null,
          "transcript": "NM_001394214.1",
          "protein_id": "NP_001381143.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1401,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4206,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8523,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 28,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ROBO2",
          "gene_hgnc_id": 10250,
          "hgvs_c": "c.109+488332G>C",
          "hgvs_p": null,
          "transcript": "NM_001378200.1",
          "protein_id": "NP_001365129.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1398,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4197,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8405,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 28,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ROBO2",
          "gene_hgnc_id": 10250,
          "hgvs_c": "c.109+488332G>C",
          "hgvs_p": null,
          "transcript": "NM_001378201.1",
          "protein_id": "NP_001365130.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1396,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4191,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8396,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 27,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ROBO2",
          "gene_hgnc_id": 10250,
          "hgvs_c": "c.109+488332G>C",
          "hgvs_p": null,
          "transcript": "NM_001128929.3",
          "protein_id": "NP_001122401.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1394,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4185,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8393,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 27,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ROBO2",
          "gene_hgnc_id": 10250,
          "hgvs_c": "c.109+488332G>C",
          "hgvs_p": null,
          "transcript": "ENST00000487694.7",
          "protein_id": "ENSP00000417335.2",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1394,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4185,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5919,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 27,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ROBO2",
          "gene_hgnc_id": 10250,
          "hgvs_c": "c.109+488332G>C",
          "hgvs_p": null,
          "transcript": "NM_001378203.1",
          "protein_id": "NP_001365132.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1338,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4017,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8222,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 23,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ROBO2",
          "gene_hgnc_id": 10250,
          "hgvs_c": "c.109+488332G>C",
          "hgvs_p": null,
          "transcript": "ENST00000602589.5",
          "protein_id": "ENSP00000473268.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1069,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3210,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3382,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 30,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ROBO2",
          "gene_hgnc_id": 10250,
          "hgvs_c": "c.130+114517G>C",
          "hgvs_p": null,
          "transcript": "XM_011533981.3",
          "protein_id": "XP_011532283.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1597,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4794,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 9108,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 29,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ROBO2",
          "gene_hgnc_id": 10250,
          "hgvs_c": "c.130+114517G>C",
          "hgvs_p": null,
          "transcript": "XM_011533982.2",
          "protein_id": "XP_011532284.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1557,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4674,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8991,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 29,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ROBO2",
          "gene_hgnc_id": 10250,
          "hgvs_c": "c.130+114517G>C",
          "hgvs_p": null,
          "transcript": "XM_017006987.2",
          "protein_id": "XP_016862476.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1554,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4665,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8982,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 29,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ROBO2",
          "gene_hgnc_id": 10250,
          "hgvs_c": "c.130+114517G>C",
          "hgvs_p": null,
          "transcript": "XM_011533983.2",
          "protein_id": "XP_011532285.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1538,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4617,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8934,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 29,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ROBO2",
          "gene_hgnc_id": 10250,
          "hgvs_c": "c.130+114517G>C",
          "hgvs_p": null,
          "transcript": "XM_017006988.2",
          "protein_id": "XP_016862477.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1536,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4611,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8925,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 28,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ROBO2",
          "gene_hgnc_id": 10250,
          "hgvs_c": "c.130+114517G>C",
          "hgvs_p": null,
          "transcript": "XM_047448671.1",
          "protein_id": "XP_047304627.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1493,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4482,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8799,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 28,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ROBO2",
          "gene_hgnc_id": 10250,
          "hgvs_c": "c.130+114517G>C",
          "hgvs_p": null,
          "transcript": "XM_047448672.1",
          "protein_id": "XP_047304628.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1466,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4401,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8718,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 28,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ROBO2",
          "gene_hgnc_id": 10250,
          "hgvs_c": "c.109+488332G>C",
          "hgvs_p": null,
          "transcript": "XM_047448673.1",
          "protein_id": "XP_047304629.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1455,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4368,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8576,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 28,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ROBO2",
          "gene_hgnc_id": 10250,
          "hgvs_c": "c.130+114517G>C",
          "hgvs_p": null,
          "transcript": "XM_017006994.2",
          "protein_id": "XP_016862483.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1445,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4338,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8652,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 28,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ROBO2",
          "gene_hgnc_id": 10250,
          "hgvs_c": "c.130+114517G>C",
          "hgvs_p": null,
          "transcript": "XM_047448674.1",
          "protein_id": "XP_047304630.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1444,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4335,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8652,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 27,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ROBO2",
          "gene_hgnc_id": 10250,
          "hgvs_c": "c.130+114517G>C",
          "hgvs_p": null,
          "transcript": "XM_047448676.1",
          "protein_id": "XP_047304632.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1443,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4332,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8649,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 27,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ROBO2",
          "gene_hgnc_id": 10250,
          "hgvs_c": "c.130+114517G>C",
          "hgvs_p": null,
          "transcript": "XM_017007002.2",
          "protein_id": "XP_016862491.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1402,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4209,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8526,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 26,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ROBO2",
          "gene_hgnc_id": 10250,
          "hgvs_c": "c.130+114517G>C",
          "hgvs_p": null,
          "transcript": "XM_047448677.1",
          "protein_id": "XP_047304633.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1399,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4200,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8514,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "ROBO2",
      "gene_hgnc_id": 10250,
      "dbsnp": "rs9827843",
      "frequency_reference_population": 0.666318,
      "hom_count_reference_population": 34484,
      "allele_count_reference_population": 101287,
      "gnomad_exomes_af": null,
      "gnomad_genomes_af": 0.666318,
      "gnomad_exomes_ac": null,
      "gnomad_genomes_ac": 101287,
      "gnomad_exomes_homalt": null,
      "gnomad_genomes_homalt": 34484,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.949999988079071,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": null,
      "splice_prediction_selected": null,
      "splice_source_selected": null,
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.95,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -0.12,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": null,
      "spliceai_max_prediction": null,
      "dbscsnv_ada_score": null,
      "dbscsnv_ada_prediction": null,
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": -12,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BA1",
      "acmg_by_gene": [
        {
          "score": -12,
          "benign_score": 12,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "NM_001394212.1",
          "gene_symbol": "ROBO2",
          "hgnc_id": 10250,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.130+114517G>C",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}