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GeneBe API Showcase

This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.

API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.

Documentation & Advanced Usage

Complete API documentation:docs.genebe.net/docs/api/overview/

Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/

Python client for pandas:pypi.org/project/genebe/

Java CLI for VCF files:github.com/pstawinski/genebe-cli

All tools documented at:docs.genebe.net

API Request Examples for Variant: 13-108209531-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=108209531&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "13",
      "pos": 108209531,
      "ref": "G",
      "alt": "A",
      "effect": "stop_gained",
      "transcript": "NM_001352604.2",
      "consequences": [
        {
          "aa_ref": "R",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LIG4",
          "gene_hgnc_id": 6601,
          "hgvs_c": "c.1738C>T",
          "hgvs_p": "p.Arg580*",
          "transcript": "NM_206937.2",
          "protein_id": "NP_996820.1",
          "transcript_support_level": null,
          "aa_start": 580,
          "aa_end": null,
          "aa_length": 911,
          "cds_start": 1738,
          "cds_end": null,
          "cds_length": 2736,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000442234.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_206937.2"
        },
        {
          "aa_ref": "R",
          "aa_alt": "*",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LIG4",
          "gene_hgnc_id": 6601,
          "hgvs_c": "c.1738C>T",
          "hgvs_p": "p.Arg580*",
          "transcript": "ENST00000442234.6",
          "protein_id": "ENSP00000402030.1",
          "transcript_support_level": 1,
          "aa_start": 580,
          "aa_end": null,
          "aa_length": 911,
          "cds_start": 1738,
          "cds_end": null,
          "cds_length": 2736,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_206937.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000442234.6"
        },
        {
          "aa_ref": "R",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LIG4",
          "gene_hgnc_id": 6601,
          "hgvs_c": "c.1738C>T",
          "hgvs_p": "p.Arg580*",
          "transcript": "ENST00000405925.2",
          "protein_id": "ENSP00000385955.1",
          "transcript_support_level": 1,
          "aa_start": 580,
          "aa_end": null,
          "aa_length": 911,
          "cds_start": 1738,
          "cds_end": null,
          "cds_length": 2736,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000405925.2"
        },
        {
          "aa_ref": "R",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LIG4",
          "gene_hgnc_id": 6601,
          "hgvs_c": "c.1774C>T",
          "hgvs_p": "p.Arg592*",
          "transcript": "NM_001352604.2",
          "protein_id": "NP_001339533.1",
          "transcript_support_level": null,
          "aa_start": 592,
          "aa_end": null,
          "aa_length": 923,
          "cds_start": 1774,
          "cds_end": null,
          "cds_length": 2772,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001352604.2"
        },
        {
          "aa_ref": "R",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LIG4",
          "gene_hgnc_id": 6601,
          "hgvs_c": "c.1738C>T",
          "hgvs_p": "p.Arg580*",
          "transcript": "NM_001098268.2",
          "protein_id": "NP_001091738.1",
          "transcript_support_level": null,
          "aa_start": 580,
          "aa_end": null,
          "aa_length": 911,
          "cds_start": 1738,
          "cds_end": null,
          "cds_length": 2736,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001098268.2"
        },
        {
          "aa_ref": "R",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LIG4",
          "gene_hgnc_id": 6601,
          "hgvs_c": "c.1738C>T",
          "hgvs_p": "p.Arg580*",
          "transcript": "NM_001352598.2",
          "protein_id": "NP_001339527.1",
          "transcript_support_level": null,
          "aa_start": 580,
          "aa_end": null,
          "aa_length": 911,
          "cds_start": 1738,
          "cds_end": null,
          "cds_length": 2736,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001352598.2"
        },
        {
          "aa_ref": "R",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LIG4",
          "gene_hgnc_id": 6601,
          "hgvs_c": "c.1738C>T",
          "hgvs_p": "p.Arg580*",
          "transcript": "NM_001352599.2",
          "protein_id": "NP_001339528.1",
          "transcript_support_level": null,
          "aa_start": 580,
          "aa_end": null,
          "aa_length": 911,
          "cds_start": 1738,
          "cds_end": null,
          "cds_length": 2736,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001352599.2"
        },
        {
          "aa_ref": "R",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LIG4",
          "gene_hgnc_id": 6601,
          "hgvs_c": "c.1738C>T",
          "hgvs_p": "p.Arg580*",
          "transcript": "NM_001352600.2",
          "protein_id": "NP_001339529.1",
          "transcript_support_level": null,
          "aa_start": 580,
          "aa_end": null,
          "aa_length": 911,
          "cds_start": 1738,
          "cds_end": null,
          "cds_length": 2736,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001352600.2"
        },
        {
          "aa_ref": "R",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LIG4",
          "gene_hgnc_id": 6601,
          "hgvs_c": "c.1738C>T",
          "hgvs_p": "p.Arg580*",
          "transcript": "NM_001352601.2",
          "protein_id": "NP_001339530.1",
          "transcript_support_level": null,
          "aa_start": 580,
          "aa_end": null,
          "aa_length": 911,
          "cds_start": 1738,
          "cds_end": null,
          "cds_length": 2736,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001352601.2"
        },
        {
          "aa_ref": "R",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LIG4",
          "gene_hgnc_id": 6601,
          "hgvs_c": "c.1738C>T",
          "hgvs_p": "p.Arg580*",
          "transcript": "NM_001352602.2",
          "protein_id": "NP_001339531.1",
          "transcript_support_level": null,
          "aa_start": 580,
          "aa_end": null,
          "aa_length": 911,
          "cds_start": 1738,
          "cds_end": null,
          "cds_length": 2736,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001352602.2"
        },
        {
          "aa_ref": "R",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LIG4",
          "gene_hgnc_id": 6601,
          "hgvs_c": "c.1738C>T",
          "hgvs_p": "p.Arg580*",
          "transcript": "NM_001352603.1",
          "protein_id": "NP_001339532.1",
          "transcript_support_level": null,
          "aa_start": 580,
          "aa_end": null,
          "aa_length": 911,
          "cds_start": 1738,
          "cds_end": null,
          "cds_length": 2736,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001352603.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LIG4",
          "gene_hgnc_id": 6601,
          "hgvs_c": "c.1738C>T",
          "hgvs_p": "p.Arg580*",
          "transcript": "NM_001379095.1",
          "protein_id": "NP_001366024.1",
          "transcript_support_level": null,
          "aa_start": 580,
          "aa_end": null,
          "aa_length": 911,
          "cds_start": 1738,
          "cds_end": null,
          "cds_length": 2736,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001379095.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LIG4",
          "gene_hgnc_id": 6601,
          "hgvs_c": "c.1738C>T",
          "hgvs_p": "p.Arg580*",
          "transcript": "NM_002312.3",
          "protein_id": "NP_002303.2",
          "transcript_support_level": null,
          "aa_start": 580,
          "aa_end": null,
          "aa_length": 911,
          "cds_start": 1738,
          "cds_end": null,
          "cds_length": 2736,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_002312.3"
        },
        {
          "aa_ref": "R",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LIG4",
          "gene_hgnc_id": 6601,
          "hgvs_c": "c.1738C>T",
          "hgvs_p": "p.Arg580*",
          "transcript": "ENST00000611712.4",
          "protein_id": "ENSP00000484288.1",
          "transcript_support_level": 4,
          "aa_start": 580,
          "aa_end": null,
          "aa_length": 911,
          "cds_start": 1738,
          "cds_end": null,
          "cds_length": 2736,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000611712.4"
        },
        {
          "aa_ref": "R",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LIG4",
          "gene_hgnc_id": 6601,
          "hgvs_c": "c.1738C>T",
          "hgvs_p": "p.Arg580*",
          "transcript": "ENST00000685338.1",
          "protein_id": "ENSP00000510567.1",
          "transcript_support_level": null,
          "aa_start": 580,
          "aa_end": null,
          "aa_length": 911,
          "cds_start": 1738,
          "cds_end": null,
          "cds_length": 2736,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000685338.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LIG4",
          "gene_hgnc_id": 6601,
          "hgvs_c": "c.1738C>T",
          "hgvs_p": "p.Arg580*",
          "transcript": "ENST00000686095.1",
          "protein_id": "ENSP00000509942.1",
          "transcript_support_level": null,
          "aa_start": 580,
          "aa_end": null,
          "aa_length": 911,
          "cds_start": 1738,
          "cds_end": null,
          "cds_length": 2736,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000686095.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LIG4",
          "gene_hgnc_id": 6601,
          "hgvs_c": "c.1738C>T",
          "hgvs_p": "p.Arg580*",
          "transcript": "ENST00000686204.1",
          "protein_id": "ENSP00000509685.1",
          "transcript_support_level": null,
          "aa_start": 580,
          "aa_end": null,
          "aa_length": 911,
          "cds_start": 1738,
          "cds_end": null,
          "cds_length": 2736,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000686204.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LIG4",
          "gene_hgnc_id": 6601,
          "hgvs_c": "c.1738C>T",
          "hgvs_p": "p.Arg580*",
          "transcript": "ENST00000686913.1",
          "protein_id": "ENSP00000509299.1",
          "transcript_support_level": null,
          "aa_start": 580,
          "aa_end": null,
          "aa_length": 911,
          "cds_start": 1738,
          "cds_end": null,
          "cds_length": 2736,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000686913.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LIG4",
          "gene_hgnc_id": 6601,
          "hgvs_c": "c.1738C>T",
          "hgvs_p": "p.Arg580*",
          "transcript": "ENST00000686926.1",
          "protein_id": "ENSP00000509122.1",
          "transcript_support_level": null,
          "aa_start": 580,
          "aa_end": null,
          "aa_length": 911,
          "cds_start": 1738,
          "cds_end": null,
          "cds_length": 2736,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000686926.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LIG4",
          "gene_hgnc_id": 6601,
          "hgvs_c": "c.1738C>T",
          "hgvs_p": "p.Arg580*",
          "transcript": "ENST00000687164.1",
          "protein_id": "ENSP00000508512.1",
          "transcript_support_level": null,
          "aa_start": 580,
          "aa_end": null,
          "aa_length": 911,
          "cds_start": 1738,
          "cds_end": null,
          "cds_length": 2736,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000687164.1"
        },
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      "bayesdelnoaf_prediction": "Pathogenic",
      "phylop100way_score": 2.763,
      "phylop100way_prediction": "Benign",
      "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": 18,
      "acmg_classification": "Pathogenic",
      "acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
      "acmg_by_gene": [
        {
          "score": 18,
          "benign_score": 0,
          "pathogenic_score": 18,
          "criteria": [
            "PVS1",
            "PM2",
            "PP5_Very_Strong"
          ],
          "verdict": "Pathogenic",
          "transcript": "NM_001352604.2",
          "gene_symbol": "LIG4",
          "hgnc_id": 6601,
          "effects": [
            "stop_gained"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.1774C>T",
          "hgvs_p": "p.Arg592*"
        }
      ],
      "clinvar_disease": "DNA ligase IV deficiency,Multiple myeloma,not provided",
      "clinvar_classification": "Pathogenic/Likely pathogenic",
      "clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
      "clinvar_submissions_summary": "P:2 LP:1",
      "phenotype_combined": "DNA ligase IV deficiency|not provided|Multiple myeloma;DNA ligase IV deficiency",
      "pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
      "custom_annotations": null
    }
  ],
  "message": null
}