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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: X-20165030-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=20165030&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "X",
      "pos": 20165030,
      "ref": "T",
      "alt": "C",
      "effect": "missense_variant",
      "transcript": "ENST00000379565.9",
      "consequences": [
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RPS6KA3",
          "gene_hgnc_id": 10432,
          "hgvs_c": "c.1633A>G",
          "hgvs_p": "p.Ile545Val",
          "transcript": "NM_004586.3",
          "protein_id": "NP_004577.1",
          "transcript_support_level": null,
          "aa_start": 545,
          "aa_end": null,
          "aa_length": 740,
          "cds_start": 1633,
          "cds_end": null,
          "cds_length": 2223,
          "cdna_start": 1910,
          "cdna_end": null,
          "cdna_length": 7987,
          "mane_select": "ENST00000379565.9",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RPS6KA3",
          "gene_hgnc_id": 10432,
          "hgvs_c": "c.1633A>G",
          "hgvs_p": "p.Ile545Val",
          "transcript": "ENST00000379565.9",
          "protein_id": "ENSP00000368884.3",
          "transcript_support_level": 1,
          "aa_start": 545,
          "aa_end": null,
          "aa_length": 740,
          "cds_start": 1633,
          "cds_end": null,
          "cds_length": 2223,
          "cdna_start": 1910,
          "cdna_end": null,
          "cdna_length": 7987,
          "mane_select": "NM_004586.3",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RPS6KA3",
          "gene_hgnc_id": 10432,
          "hgvs_c": "c.1549A>G",
          "hgvs_p": "p.Ile517Val",
          "transcript": "NM_001438340.1",
          "protein_id": "NP_001425269.1",
          "transcript_support_level": null,
          "aa_start": 517,
          "aa_end": null,
          "aa_length": 712,
          "cds_start": 1549,
          "cds_end": null,
          "cds_length": 2139,
          "cdna_start": 1616,
          "cdna_end": null,
          "cdna_length": 7693,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RPS6KA3",
          "gene_hgnc_id": 10432,
          "hgvs_c": "c.1549A>G",
          "hgvs_p": "p.Ile517Val",
          "transcript": "ENST00000642835.1",
          "protein_id": "ENSP00000494769.1",
          "transcript_support_level": null,
          "aa_start": 517,
          "aa_end": null,
          "aa_length": 712,
          "cds_start": 1549,
          "cds_end": null,
          "cds_length": 2139,
          "cdna_start": 1831,
          "cdna_end": null,
          "cdna_length": 2841,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RPS6KA3",
          "gene_hgnc_id": 10432,
          "hgvs_c": "c.1549A>G",
          "hgvs_p": "p.Ile517Val",
          "transcript": "ENST00000643085.1",
          "protein_id": "ENSP00000496271.1",
          "transcript_support_level": null,
          "aa_start": 517,
          "aa_end": null,
          "aa_length": 712,
          "cds_start": 1549,
          "cds_end": null,
          "cds_length": 2139,
          "cdna_start": 1738,
          "cdna_end": null,
          "cdna_length": 4064,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RPS6KA3",
          "gene_hgnc_id": 10432,
          "hgvs_c": "c.1549A>G",
          "hgvs_p": "p.Ile517Val",
          "transcript": "ENST00000643337.1",
          "protein_id": "ENSP00000493487.1",
          "transcript_support_level": null,
          "aa_start": 517,
          "aa_end": null,
          "aa_length": 712,
          "cds_start": 1549,
          "cds_end": null,
          "cds_length": 2139,
          "cdna_start": 2032,
          "cdna_end": null,
          "cdna_length": 3054,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RPS6KA3",
          "gene_hgnc_id": 10432,
          "hgvs_c": "c.1549A>G",
          "hgvs_p": "p.Ile517Val",
          "transcript": "ENST00000643402.1",
          "protein_id": "ENSP00000493862.1",
          "transcript_support_level": null,
          "aa_start": 517,
          "aa_end": null,
          "aa_length": 712,
          "cds_start": 1549,
          "cds_end": null,
          "cds_length": 2139,
          "cdna_start": 1896,
          "cdna_end": null,
          "cdna_length": 3294,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RPS6KA3",
          "gene_hgnc_id": 10432,
          "hgvs_c": "c.1549A>G",
          "hgvs_p": "p.Ile517Val",
          "transcript": "ENST00000644368.1",
          "protein_id": "ENSP00000495776.1",
          "transcript_support_level": null,
          "aa_start": 517,
          "aa_end": null,
          "aa_length": 712,
          "cds_start": 1549,
          "cds_end": null,
          "cds_length": 2139,
          "cdna_start": 1754,
          "cdna_end": null,
          "cdna_length": 2991,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RPS6KA3",
          "gene_hgnc_id": 10432,
          "hgvs_c": "c.1549A>G",
          "hgvs_p": "p.Ile517Val",
          "transcript": "ENST00000645270.1",
          "protein_id": "ENSP00000494967.1",
          "transcript_support_level": null,
          "aa_start": 517,
          "aa_end": null,
          "aa_length": 712,
          "cds_start": 1549,
          "cds_end": null,
          "cds_length": 2139,
          "cdna_start": 1780,
          "cdna_end": null,
          "cdna_length": 3961,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RPS6KA3",
          "gene_hgnc_id": 10432,
          "hgvs_c": "c.1549A>G",
          "hgvs_p": "p.Ile517Val",
          "transcript": "ENST00000646610.1",
          "protein_id": "ENSP00000495462.1",
          "transcript_support_level": null,
          "aa_start": 517,
          "aa_end": null,
          "aa_length": 712,
          "cds_start": 1549,
          "cds_end": null,
          "cds_length": 2139,
          "cdna_start": 1626,
          "cdna_end": null,
          "cdna_length": 2682,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RPS6KA3",
          "gene_hgnc_id": 10432,
          "hgvs_c": "c.1549A>G",
          "hgvs_p": "p.Ile517Val",
          "transcript": "ENST00000647265.1",
          "protein_id": "ENSP00000494220.1",
          "transcript_support_level": null,
          "aa_start": 517,
          "aa_end": null,
          "aa_length": 712,
          "cds_start": 1549,
          "cds_end": null,
          "cds_length": 2139,
          "cdna_start": 1814,
          "cdna_end": null,
          "cdna_length": 3015,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RPS6KA3",
          "gene_hgnc_id": 10432,
          "hgvs_c": "c.1546A>G",
          "hgvs_p": "p.Ile516Val",
          "transcript": "ENST00000457145.6",
          "protein_id": "ENSP00000407655.2",
          "transcript_support_level": 2,
          "aa_start": 516,
          "aa_end": null,
          "aa_length": 711,
          "cds_start": 1546,
          "cds_end": null,
          "cds_length": 2136,
          "cdna_start": 1667,
          "cdna_end": null,
          "cdna_length": 2820,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RPS6KA3",
          "gene_hgnc_id": 10432,
          "hgvs_c": "c.1546A>G",
          "hgvs_p": "p.Ile516Val",
          "transcript": "ENST00000644893.1",
          "protein_id": "ENSP00000495974.1",
          "transcript_support_level": null,
          "aa_start": 516,
          "aa_end": null,
          "aa_length": 711,
          "cds_start": 1546,
          "cds_end": null,
          "cds_length": 2136,
          "cdna_start": 1720,
          "cdna_end": null,
          "cdna_length": 2451,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RPS6KA3",
          "gene_hgnc_id": 10432,
          "hgvs_c": "c.1651A>G",
          "hgvs_p": "p.Ile551Val",
          "transcript": "XM_011545555.2",
          "protein_id": "XP_011543857.1",
          "transcript_support_level": null,
          "aa_start": 551,
          "aa_end": null,
          "aa_length": 746,
          "cds_start": 1651,
          "cds_end": null,
          "cds_length": 2241,
          "cdna_start": 1928,
          "cdna_end": null,
          "cdna_length": 3944,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RPS6KA3",
          "gene_hgnc_id": 10432,
          "hgvs_c": "c.1648A>G",
          "hgvs_p": "p.Ile550Val",
          "transcript": "XM_011545556.2",
          "protein_id": "XP_011543858.1",
          "transcript_support_level": null,
          "aa_start": 550,
          "aa_end": null,
          "aa_length": 745,
          "cds_start": 1648,
          "cds_end": null,
          "cds_length": 2238,
          "cdna_start": 1925,
          "cdna_end": null,
          "cdna_length": 8002,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RPS6KA3",
          "gene_hgnc_id": 10432,
          "hgvs_c": "c.1633A>G",
          "hgvs_p": "p.Ile545Val",
          "transcript": "XM_047442332.1",
          "protein_id": "XP_047298288.1",
          "transcript_support_level": null,
          "aa_start": 545,
          "aa_end": null,
          "aa_length": 740,
          "cds_start": 1633,
          "cds_end": null,
          "cds_length": 2223,
          "cdna_start": 1910,
          "cdna_end": null,
          "cdna_length": 3926,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RPS6KA3",
          "gene_hgnc_id": 10432,
          "hgvs_c": "c.1630A>G",
          "hgvs_p": "p.Ile544Val",
          "transcript": "XM_005274573.3",
          "protein_id": "XP_005274630.1",
          "transcript_support_level": null,
          "aa_start": 544,
          "aa_end": null,
          "aa_length": 739,
          "cds_start": 1630,
          "cds_end": null,
          "cds_length": 2220,
          "cdna_start": 1907,
          "cdna_end": null,
          "cdna_length": 7984,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RPS6KA3",
          "gene_hgnc_id": 10432,
          "hgvs_c": "c.1630A>G",
          "hgvs_p": "p.Ile544Val",
          "transcript": "XM_047442333.1",
          "protein_id": "XP_047298289.1",
          "transcript_support_level": null,
          "aa_start": 544,
          "aa_end": null,
          "aa_length": 739,
          "cds_start": 1630,
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          "cds_length": 2220,
          "cdna_start": 1907,
          "cdna_end": null,
          "cdna_length": 3923,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RPS6KA3",
          "gene_hgnc_id": 10432,
          "hgvs_c": "c.1567A>G",
          "hgvs_p": "p.Ile523Val",
          "transcript": "XM_011545557.3",
          "protein_id": "XP_011543859.1",
          "transcript_support_level": null,
          "aa_start": 523,
          "aa_end": null,
          "aa_length": 718,
          "cds_start": 1567,
          "cds_end": null,
          "cds_length": 2157,
          "cdna_start": 2059,
          "cdna_end": null,
          "cdna_length": 8136,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RPS6KA3",
          "gene_hgnc_id": 10432,
          "hgvs_c": "c.1567A>G",
          "hgvs_p": "p.Ile523Val",
          "transcript": "XM_011545560.2",
          "protein_id": "XP_011543862.1",
          "transcript_support_level": null,
          "aa_start": 523,
          "aa_end": null,
          "aa_length": 718,
          "cds_start": 1567,
          "cds_end": null,
          "cds_length": 2157,
          "cdna_start": 1965,
          "cdna_end": null,
          "cdna_length": 8042,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
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      "gnomad_exomes_af": 9.19066e-7,
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      "spliceai_max_score": 0,
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      "acmg_classification": "Uncertain_significance",
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      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "US:1",
      "phenotype_combined": "Inborn genetic diseases",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
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  "message": null
}