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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: 11-118511963-C-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=118511963&ref=C&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "11",
      "pos": 118511963,
      "ref": "C",
      "alt": "G",
      "effect": "stop_gained",
      "transcript": "NM_001197104.2",
      "consequences": [
        {
          "aa_ref": "S",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 31,
          "exon_rank_end": null,
          "exon_count": 36,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KMT2A",
          "gene_hgnc_id": 7132,
          "hgvs_c": "c.11084C>G",
          "hgvs_p": "p.Ser3695*",
          "transcript": "NM_001197104.2",
          "protein_id": "NP_001184033.1",
          "transcript_support_level": null,
          "aa_start": 3695,
          "aa_end": null,
          "aa_length": 3972,
          "cds_start": 11084,
          "cds_end": null,
          "cds_length": 11919,
          "cdna_start": 11105,
          "cdna_end": null,
          "cdna_length": 16600,
          "mane_select": "ENST00000534358.8",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "*",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 31,
          "exon_rank_end": null,
          "exon_count": 36,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KMT2A",
          "gene_hgnc_id": 7132,
          "hgvs_c": "c.11084C>G",
          "hgvs_p": "p.Ser3695*",
          "transcript": "ENST00000534358.8",
          "protein_id": "ENSP00000436786.2",
          "transcript_support_level": 1,
          "aa_start": 3695,
          "aa_end": null,
          "aa_length": 3972,
          "cds_start": 11084,
          "cds_end": null,
          "cds_length": 11919,
          "cdna_start": 11105,
          "cdna_end": null,
          "cdna_length": 16600,
          "mane_select": "NM_001197104.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 31,
          "exon_rank_end": null,
          "exon_count": 36,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KMT2A",
          "gene_hgnc_id": 7132,
          "hgvs_c": "c.11075C>G",
          "hgvs_p": "p.Ser3692*",
          "transcript": "ENST00000389506.10",
          "protein_id": "ENSP00000374157.5",
          "transcript_support_level": 1,
          "aa_start": 3692,
          "aa_end": null,
          "aa_length": 3969,
          "cds_start": 11075,
          "cds_end": null,
          "cds_length": 11910,
          "cdna_start": 11098,
          "cdna_end": null,
          "cdna_length": 13678,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 32,
          "exon_rank_end": null,
          "exon_count": 37,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KMT2A",
          "gene_hgnc_id": 7132,
          "hgvs_c": "c.11183C>G",
          "hgvs_p": "p.Ser3728*",
          "transcript": "ENST00000531904.7",
          "protein_id": "ENSP00000432391.3",
          "transcript_support_level": 2,
          "aa_start": 3728,
          "aa_end": null,
          "aa_length": 4005,
          "cds_start": 11183,
          "cds_end": null,
          "cds_length": 12018,
          "cdna_start": 11204,
          "cdna_end": null,
          "cdna_length": 16699,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 32,
          "exon_rank_end": null,
          "exon_count": 37,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KMT2A",
          "gene_hgnc_id": 7132,
          "hgvs_c": "c.11174C>G",
          "hgvs_p": "p.Ser3725*",
          "transcript": "NM_001412597.1",
          "protein_id": "NP_001399526.1",
          "transcript_support_level": null,
          "aa_start": 3725,
          "aa_end": null,
          "aa_length": 4002,
          "cds_start": 11174,
          "cds_end": null,
          "cds_length": 12009,
          "cdna_start": 11195,
          "cdna_end": null,
          "cdna_length": 16690,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 32,
          "exon_rank_end": null,
          "exon_count": 37,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KMT2A",
          "gene_hgnc_id": 7132,
          "hgvs_c": "c.11174C>G",
          "hgvs_p": "p.Ser3725*",
          "transcript": "ENST00000710560.1",
          "protein_id": "ENSP00000518343.1",
          "transcript_support_level": null,
          "aa_start": 3725,
          "aa_end": null,
          "aa_length": 4002,
          "cds_start": 11174,
          "cds_end": null,
          "cds_length": 12009,
          "cdna_start": 11230,
          "cdna_end": null,
          "cdna_length": 16725,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 32,
          "exon_rank_end": null,
          "exon_count": 37,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KMT2A",
          "gene_hgnc_id": 7132,
          "hgvs_c": "c.11156C>G",
          "hgvs_p": "p.Ser3719*",
          "transcript": "ENST00000691053.1",
          "protein_id": "ENSP00000509168.1",
          "transcript_support_level": null,
          "aa_start": 3719,
          "aa_end": null,
          "aa_length": 3996,
          "cds_start": 11156,
          "cds_end": null,
          "cds_length": 11991,
          "cdna_start": 11164,
          "cdna_end": null,
          "cdna_length": 13708,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 31,
          "exon_rank_end": null,
          "exon_count": 36,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KMT2A",
          "gene_hgnc_id": 7132,
          "hgvs_c": "c.11075C>G",
          "hgvs_p": "p.Ser3692*",
          "transcript": "NM_005933.4",
          "protein_id": "NP_005924.2",
          "transcript_support_level": null,
          "aa_start": 3692,
          "aa_end": null,
          "aa_length": 3969,
          "cds_start": 11075,
          "cds_end": null,
          "cds_length": 11910,
          "cdna_start": 11096,
          "cdna_end": null,
          "cdna_length": 16591,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 35,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KMT2A",
          "gene_hgnc_id": 7132,
          "hgvs_c": "c.10961C>G",
          "hgvs_p": "p.Ser3654*",
          "transcript": "ENST00000649699.1",
          "protein_id": "ENSP00000496927.1",
          "transcript_support_level": null,
          "aa_start": 3654,
          "aa_end": null,
          "aa_length": 3931,
          "cds_start": 10961,
          "cds_end": null,
          "cds_length": 11796,
          "cdna_start": 10961,
          "cdna_end": null,
          "cdna_length": 11796,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KMT2A",
          "gene_hgnc_id": 7132,
          "hgvs_c": "c.5144C>G",
          "hgvs_p": "p.Ser1715*",
          "transcript": "ENST00000686370.1",
          "protein_id": "ENSP00000509179.1",
          "transcript_support_level": null,
          "aa_start": 1715,
          "aa_end": null,
          "aa_length": 1792,
          "cds_start": 5144,
          "cds_end": null,
          "cds_length": 5381,
          "cdna_start": 5144,
          "cdna_end": null,
          "cdna_length": 5381,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KMT2A",
          "gene_hgnc_id": 7132,
          "hgvs_c": "c.5042C>G",
          "hgvs_p": "p.Ser1681*",
          "transcript": "ENST00000685397.1",
          "protein_id": "ENSP00000509586.1",
          "transcript_support_level": null,
          "aa_start": 1681,
          "aa_end": null,
          "aa_length": 1758,
          "cds_start": 5042,
          "cds_end": null,
          "cds_length": 5279,
          "cdna_start": 5042,
          "cdna_end": null,
          "cdna_length": 5279,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 32,
          "exon_rank_end": null,
          "exon_count": 37,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KMT2A",
          "gene_hgnc_id": 7132,
          "hgvs_c": "c.11183C>G",
          "hgvs_p": "p.Ser3728*",
          "transcript": "XM_011542829.3",
          "protein_id": "XP_011541131.1",
          "transcript_support_level": null,
          "aa_start": 3728,
          "aa_end": null,
          "aa_length": 4005,
          "cds_start": 11183,
          "cds_end": null,
          "cds_length": 12018,
          "cdna_start": 11204,
          "cdna_end": null,
          "cdna_length": 16699,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 32,
          "exon_rank_end": null,
          "exon_count": 37,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KMT2A",
          "gene_hgnc_id": 7132,
          "hgvs_c": "c.11180C>G",
          "hgvs_p": "p.Ser3727*",
          "transcript": "XM_011542830.3",
          "protein_id": "XP_011541132.1",
          "transcript_support_level": null,
          "aa_start": 3727,
          "aa_end": null,
          "aa_length": 4004,
          "cds_start": 11180,
          "cds_end": null,
          "cds_length": 12015,
          "cdna_start": 11201,
          "cdna_end": null,
          "cdna_length": 16696,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 32,
          "exon_rank_end": null,
          "exon_count": 37,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KMT2A",
          "gene_hgnc_id": 7132,
          "hgvs_c": "c.11171C>G",
          "hgvs_p": "p.Ser3724*",
          "transcript": "XM_047426963.1",
          "protein_id": "XP_047282919.1",
          "transcript_support_level": null,
          "aa_start": 3724,
          "aa_end": null,
          "aa_length": 4001,
          "cds_start": 11171,
          "cds_end": null,
          "cds_length": 12006,
          "cdna_start": 11192,
          "cdna_end": null,
          "cdna_length": 16687,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 32,
          "exon_rank_end": null,
          "exon_count": 37,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KMT2A",
          "gene_hgnc_id": 7132,
          "hgvs_c": "c.8666C>G",
          "hgvs_p": "p.Ser2889*",
          "transcript": "XM_011542833.3",
          "protein_id": "XP_011541135.1",
          "transcript_support_level": null,
          "aa_start": 2889,
          "aa_end": null,
          "aa_length": 3166,
          "cds_start": 8666,
          "cds_end": null,
          "cds_length": 9501,
          "cdna_start": 8687,
          "cdna_end": null,
          "cdna_length": 14182,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 31,
          "exon_rank_end": null,
          "exon_count": 36,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KMT2A",
          "gene_hgnc_id": 7132,
          "hgvs_c": "c.8567C>G",
          "hgvs_p": "p.Ser2856*",
          "transcript": "XM_006718839.4",
          "protein_id": "XP_006718902.2",
          "transcript_support_level": null,
          "aa_start": 2856,
          "aa_end": null,
          "aa_length": 3133,
          "cds_start": 8567,
          "cds_end": null,
          "cds_length": 9402,
          "cdna_start": 8588,
          "cdna_end": null,
          "cdna_length": 14083,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 31,
          "exon_rank_end": null,
          "exon_count": 36,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KMT2A",
          "gene_hgnc_id": 7132,
          "hgvs_c": "c.8558C>G",
          "hgvs_p": "p.Ser2853*",
          "transcript": "XM_047426964.1",
          "protein_id": "XP_047282920.1",
          "transcript_support_level": null,
          "aa_start": 2853,
          "aa_end": null,
          "aa_length": 3130,
          "cds_start": 8558,
          "cds_end": null,
          "cds_length": 9393,
          "cdna_start": 8579,
          "cdna_end": null,
          "cdna_length": 14074,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KMT2A",
          "gene_hgnc_id": 7132,
          "hgvs_c": "n.584C>G",
          "hgvs_p": null,
          "transcript": "ENST00000527839.2",
          "protein_id": null,
          "transcript_support_level": 3,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4823,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TTC36-AS1",
          "gene_hgnc_id": 55495,
          "hgvs_c": "n.379G>C",
          "hgvs_p": null,
          "transcript": "ENST00000532597.6",
          "protein_id": null,
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2069,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KMT2A",
          "gene_hgnc_id": 7132,
          "hgvs_c": "n.542C>G",
          "hgvs_p": null,
          "transcript": "ENST00000534678.3",
          "protein_id": null,
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1793,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
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          "gene_symbol": "KMT2A",
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        {
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          "exon_rank": 9,
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          "protein_id": "ENSP00000497891.2",
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      ],
      "gene_symbol": "KMT2A",
      "gene_hgnc_id": 7132,
      "dbsnp": "rs782477344",
      "frequency_reference_population": null,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 0,
      "gnomad_exomes_af": null,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": null,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": null,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.6200000047683716,
      "computational_prediction_selected": "Pathogenic",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": 0.62,
      "bayesdelnoaf_prediction": "Pathogenic",
      "phylop100way_score": 3.737,
      "phylop100way_prediction": "Uncertain_significance",
      "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": 12,
      "acmg_classification": "Pathogenic",
      "acmg_criteria": "PVS1,PM2,PP5_Moderate",
      "acmg_by_gene": [
        {
          "score": 12,
          "benign_score": 0,
          "pathogenic_score": 12,
          "criteria": [
            "PVS1",
            "PM2",
            "PP5_Moderate"
          ],
          "verdict": "Pathogenic",
          "transcript": "NM_001197104.2",
          "gene_symbol": "KMT2A",
          "hgnc_id": 7132,
          "effects": [
            "stop_gained"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.11084C>G",
          "hgvs_p": "p.Ser3695*"
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        {
          "score": 8,
          "benign_score": 0,
          "pathogenic_score": 8,
          "criteria": [
            "PM2",
            "PP3_Strong",
            "PP5_Moderate"
          ],
          "verdict": "Likely_pathogenic",
          "transcript": "ENST00000532597.6",
          "gene_symbol": "TTC36-AS1",
          "hgnc_id": 55495,
          "effects": [
            "non_coding_transcript_exon_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.379G>C",
          "hgvs_p": null
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      ],
      "clinvar_disease": "Wiedemann-Steiner syndrome",
      "clinvar_classification": "Pathogenic",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "P:1",
      "phenotype_combined": "Wiedemann-Steiner syndrome",
      "pathogenicity_classification_combined": "Pathogenic",
      "custom_annotations": null
    }
  ],
  "message": null
}