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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: 6-24559053-A-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=24559053&ref=A&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "6",
      "pos": 24559053,
      "ref": "A",
      "alt": "G",
      "effect": "synonymous_variant",
      "transcript": "NM_014809.4",
      "consequences": [
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIAA0319",
          "gene_hgnc_id": 21580,
          "hgvs_c": "c.2694T>C",
          "hgvs_p": "p.Ala898Ala",
          "transcript": "NM_014809.4",
          "protein_id": "NP_055624.2",
          "transcript_support_level": null,
          "aa_start": 898,
          "aa_end": null,
          "aa_length": 1072,
          "cds_start": 2694,
          "cds_end": null,
          "cds_length": 3219,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000378214.8",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_014809.4"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIAA0319",
          "gene_hgnc_id": 21580,
          "hgvs_c": "c.2694T>C",
          "hgvs_p": "p.Ala898Ala",
          "transcript": "ENST00000378214.8",
          "protein_id": "ENSP00000367459.3",
          "transcript_support_level": 1,
          "aa_start": 898,
          "aa_end": null,
          "aa_length": 1072,
          "cds_start": 2694,
          "cds_end": null,
          "cds_length": 3219,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_014809.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000378214.8"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIAA0319",
          "gene_hgnc_id": 21580,
          "hgvs_c": "c.2694T>C",
          "hgvs_p": "p.Ala898Ala",
          "transcript": "ENST00000537886.5",
          "protein_id": "ENSP00000439700.1",
          "transcript_support_level": 1,
          "aa_start": 898,
          "aa_end": null,
          "aa_length": 1011,
          "cds_start": 2694,
          "cds_end": null,
          "cds_length": 3036,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000537886.5"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIAA0319",
          "gene_hgnc_id": 21580,
          "hgvs_c": "c.927T>C",
          "hgvs_p": "p.Ala309Ala",
          "transcript": "ENST00000616673.4",
          "protein_id": "ENSP00000483665.1",
          "transcript_support_level": 1,
          "aa_start": 309,
          "aa_end": null,
          "aa_length": 483,
          "cds_start": 927,
          "cds_end": null,
          "cds_length": 1452,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000616673.4"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIAA0319",
          "gene_hgnc_id": 21580,
          "hgvs_c": "c.2694T>C",
          "hgvs_p": "p.Ala898Ala",
          "transcript": "NM_001168375.2",
          "protein_id": "NP_001161847.1",
          "transcript_support_level": null,
          "aa_start": 898,
          "aa_end": null,
          "aa_length": 1072,
          "cds_start": 2694,
          "cds_end": null,
          "cds_length": 3219,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001168375.2"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIAA0319",
          "gene_hgnc_id": 21580,
          "hgvs_c": "c.2694T>C",
          "hgvs_p": "p.Ala898Ala",
          "transcript": "NM_001350403.2",
          "protein_id": "NP_001337332.1",
          "transcript_support_level": null,
          "aa_start": 898,
          "aa_end": null,
          "aa_length": 1072,
          "cds_start": 2694,
          "cds_end": null,
          "cds_length": 3219,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001350403.2"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIAA0319",
          "gene_hgnc_id": 21580,
          "hgvs_c": "c.2694T>C",
          "hgvs_p": "p.Ala898Ala",
          "transcript": "ENST00000901508.1",
          "protein_id": "ENSP00000571567.1",
          "transcript_support_level": null,
          "aa_start": 898,
          "aa_end": null,
          "aa_length": 1072,
          "cds_start": 2694,
          "cds_end": null,
          "cds_length": 3219,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000901508.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIAA0319",
          "gene_hgnc_id": 21580,
          "hgvs_c": "c.2694T>C",
          "hgvs_p": "p.Ala898Ala",
          "transcript": "ENST00000937457.1",
          "protein_id": "ENSP00000607516.1",
          "transcript_support_level": null,
          "aa_start": 898,
          "aa_end": null,
          "aa_length": 1072,
          "cds_start": 2694,
          "cds_end": null,
          "cds_length": 3219,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000937457.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIAA0319",
          "gene_hgnc_id": 21580,
          "hgvs_c": "c.2676T>C",
          "hgvs_p": "p.Ala892Ala",
          "transcript": "NM_001350404.2",
          "protein_id": "NP_001337333.1",
          "transcript_support_level": null,
          "aa_start": 892,
          "aa_end": null,
          "aa_length": 1066,
          "cds_start": 2676,
          "cds_end": null,
          "cds_length": 3201,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001350404.2"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIAA0319",
          "gene_hgnc_id": 21580,
          "hgvs_c": "c.2667T>C",
          "hgvs_p": "p.Ala889Ala",
          "transcript": "NM_001168374.2",
          "protein_id": "NP_001161846.1",
          "transcript_support_level": null,
          "aa_start": 889,
          "aa_end": null,
          "aa_length": 1063,
          "cds_start": 2667,
          "cds_end": null,
          "cds_length": 3192,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001168374.2"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIAA0319",
          "gene_hgnc_id": 21580,
          "hgvs_c": "c.2667T>C",
          "hgvs_p": "p.Ala889Ala",
          "transcript": "ENST00000535378.5",
          "protein_id": "ENSP00000442403.1",
          "transcript_support_level": 2,
          "aa_start": 889,
          "aa_end": null,
          "aa_length": 1063,
          "cds_start": 2667,
          "cds_end": null,
          "cds_length": 3192,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000535378.5"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIAA0319",
          "gene_hgnc_id": 21580,
          "hgvs_c": "c.2601T>C",
          "hgvs_p": "p.Ala867Ala",
          "transcript": "ENST00000901509.1",
          "protein_id": "ENSP00000571568.1",
          "transcript_support_level": null,
          "aa_start": 867,
          "aa_end": null,
          "aa_length": 1041,
          "cds_start": 2601,
          "cds_end": null,
          "cds_length": 3126,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000901509.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIAA0319",
          "gene_hgnc_id": 21580,
          "hgvs_c": "c.2601T>C",
          "hgvs_p": "p.Ala867Ala",
          "transcript": "ENST00000964874.1",
          "protein_id": "ENSP00000634933.1",
          "transcript_support_level": null,
          "aa_start": 867,
          "aa_end": null,
          "aa_length": 1041,
          "cds_start": 2601,
          "cds_end": null,
          "cds_length": 3126,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000964874.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIAA0319",
          "gene_hgnc_id": 21580,
          "hgvs_c": "c.2595T>C",
          "hgvs_p": "p.Ala865Ala",
          "transcript": "NM_001350405.2",
          "protein_id": "NP_001337334.1",
          "transcript_support_level": null,
          "aa_start": 865,
          "aa_end": null,
          "aa_length": 1039,
          "cds_start": 2595,
          "cds_end": null,
          "cds_length": 3120,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001350405.2"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIAA0319",
          "gene_hgnc_id": 21580,
          "hgvs_c": "c.2559T>C",
          "hgvs_p": "p.Ala853Ala",
          "transcript": "NM_001168376.2",
          "protein_id": "NP_001161848.1",
          "transcript_support_level": null,
          "aa_start": 853,
          "aa_end": null,
          "aa_length": 1027,
          "cds_start": 2559,
          "cds_end": null,
          "cds_length": 3084,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001168376.2"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIAA0319",
          "gene_hgnc_id": 21580,
          "hgvs_c": "c.2559T>C",
          "hgvs_p": "p.Ala853Ala",
          "transcript": "NM_001350406.2",
          "protein_id": "NP_001337335.1",
          "transcript_support_level": null,
          "aa_start": 853,
          "aa_end": null,
          "aa_length": 1027,
          "cds_start": 2559,
          "cds_end": null,
          "cds_length": 3084,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001350406.2"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIAA0319",
          "gene_hgnc_id": 21580,
          "hgvs_c": "c.2559T>C",
          "hgvs_p": "p.Ala853Ala",
          "transcript": "ENST00000430948.6",
          "protein_id": "ENSP00000401086.2",
          "transcript_support_level": 2,
          "aa_start": 853,
          "aa_end": null,
          "aa_length": 1027,
          "cds_start": 2559,
          "cds_end": null,
          "cds_length": 3084,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000430948.6"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIAA0319",
          "gene_hgnc_id": 21580,
          "hgvs_c": "c.2694T>C",
          "hgvs_p": "p.Ala898Ala",
          "transcript": "NM_001168377.2",
          "protein_id": "NP_001161849.1",
          "transcript_support_level": null,
          "aa_start": 898,
          "aa_end": null,
          "aa_length": 1011,
          "cds_start": 2694,
          "cds_end": null,
          "cds_length": 3036,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001168377.2"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIAA0319",
          "gene_hgnc_id": 21580,
          "hgvs_c": "c.2694T>C",
          "hgvs_p": "p.Ala898Ala",
          "transcript": "NM_001350407.2",
          "protein_id": "NP_001337336.1",
          "transcript_support_level": null,
          "aa_start": 898,
          "aa_end": null,
          "aa_length": 978,
          "cds_start": 2694,
          "cds_end": null,
          "cds_length": 2937,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001350407.2"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIAA0319",
          "gene_hgnc_id": 21580,
          "hgvs_c": "c.2694T>C",
          "hgvs_p": "p.Ala898Ala",
          "transcript": "NM_001350408.2",
          "protein_id": "NP_001337337.1",
          "transcript_support_level": null,
          "aa_start": 898,
          "aa_end": null,
          "aa_length": 978,
          "cds_start": 2694,
          "cds_end": null,
          "cds_length": 2937,
          "cdna_start": null,
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      ],
      "gene_symbol": "KIAA0319",
      "gene_hgnc_id": 21580,
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      "gnomad_exomes_af": 0.223047,
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      "computational_score_selected": -0.7300000190734863,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
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      "alphamissense_score": null,
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      "bayesdelnoaf_score": -0.73,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -2.721,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
      "dbscsnv_ada_score": null,
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      "acmg_score": -14,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BP6,BP7,BA1",
      "acmg_by_gene": [
        {
          "score": -14,
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          "pathogenic_score": 0,
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            "BP6",
            "BP7",
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "NM_014809.4",
          "gene_symbol": "KIAA0319",
          "hgnc_id": 21580,
          "effects": [
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          ],
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      ],
      "clinvar_disease": "KIAA0319-related disorder",
      "clinvar_classification": "Benign",
      "clinvar_review_status": "no assertion criteria provided",
      "clinvar_submissions_summary": "null",
      "phenotype_combined": "KIAA0319-related disorder",
      "pathogenicity_classification_combined": "Benign",
      "custom_annotations": null
    }
  ],
  "message": null
}