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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: 9-127495380-C-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=127495380&ref=C&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "9",
      "pos": 127495380,
      "ref": "C",
      "alt": "A",
      "effect": "synonymous_variant",
      "transcript": "NM_001005373.4",
      "consequences": [
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LRSAM1",
          "gene_hgnc_id": 25135,
          "hgvs_c": "c.1660C>A",
          "hgvs_p": "p.Arg554Arg",
          "transcript": "NM_001005373.4",
          "protein_id": "NP_001005373.1",
          "transcript_support_level": null,
          "aa_start": 554,
          "aa_end": null,
          "aa_length": 723,
          "cds_start": 1660,
          "cds_end": null,
          "cds_length": 2172,
          "cdna_start": 2008,
          "cdna_end": null,
          "cdna_length": 3120,
          "mane_select": "ENST00000300417.11",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LRSAM1",
          "gene_hgnc_id": 25135,
          "hgvs_c": "c.1660C>A",
          "hgvs_p": "p.Arg554Arg",
          "transcript": "ENST00000300417.11",
          "protein_id": "ENSP00000300417.6",
          "transcript_support_level": 1,
          "aa_start": 554,
          "aa_end": null,
          "aa_length": 723,
          "cds_start": 1660,
          "cds_end": null,
          "cds_length": 2172,
          "cdna_start": 2008,
          "cdna_end": null,
          "cdna_length": 3120,
          "mane_select": "NM_001005373.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LRSAM1",
          "gene_hgnc_id": 25135,
          "hgvs_c": "c.1660C>A",
          "hgvs_p": "p.Arg554Arg",
          "transcript": "ENST00000373322.1",
          "protein_id": "ENSP00000362419.1",
          "transcript_support_level": 1,
          "aa_start": 554,
          "aa_end": null,
          "aa_length": 723,
          "cds_start": 1660,
          "cds_end": null,
          "cds_length": 2172,
          "cdna_start": 1737,
          "cdna_end": null,
          "cdna_length": 2849,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LRSAM1",
          "gene_hgnc_id": 25135,
          "hgvs_c": "c.1741C>A",
          "hgvs_p": "p.Arg581Arg",
          "transcript": "ENST00000676170.1",
          "protein_id": "ENSP00000502177.1",
          "transcript_support_level": null,
          "aa_start": 581,
          "aa_end": null,
          "aa_length": 750,
          "cds_start": 1741,
          "cds_end": null,
          "cds_length": 2253,
          "cdna_start": 2089,
          "cdna_end": null,
          "cdna_length": 3185,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LRSAM1",
          "gene_hgnc_id": 25135,
          "hgvs_c": "c.1660C>A",
          "hgvs_p": "p.Arg554Arg",
          "transcript": "NM_001005374.4",
          "protein_id": "NP_001005374.1",
          "transcript_support_level": null,
          "aa_start": 554,
          "aa_end": null,
          "aa_length": 723,
          "cds_start": 1660,
          "cds_end": null,
          "cds_length": 2172,
          "cdna_start": 1737,
          "cdna_end": null,
          "cdna_length": 2849,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LRSAM1",
          "gene_hgnc_id": 25135,
          "hgvs_c": "c.1660C>A",
          "hgvs_p": "p.Arg554Arg",
          "transcript": "NM_001384142.1",
          "protein_id": "NP_001371071.1",
          "transcript_support_level": null,
          "aa_start": 554,
          "aa_end": null,
          "aa_length": 723,
          "cds_start": 1660,
          "cds_end": null,
          "cds_length": 2172,
          "cdna_start": 3025,
          "cdna_end": null,
          "cdna_length": 4137,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LRSAM1",
          "gene_hgnc_id": 25135,
          "hgvs_c": "c.1660C>A",
          "hgvs_p": "p.Arg554Arg",
          "transcript": "NM_138361.5",
          "protein_id": "NP_612370.3",
          "transcript_support_level": null,
          "aa_start": 554,
          "aa_end": null,
          "aa_length": 723,
          "cds_start": 1660,
          "cds_end": null,
          "cds_length": 2172,
          "cdna_start": 2291,
          "cdna_end": null,
          "cdna_length": 3405,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LRSAM1",
          "gene_hgnc_id": 25135,
          "hgvs_c": "c.1660C>A",
          "hgvs_p": "p.Arg554Arg",
          "transcript": "ENST00000323301.8",
          "protein_id": "ENSP00000322937.4",
          "transcript_support_level": 2,
          "aa_start": 554,
          "aa_end": null,
          "aa_length": 723,
          "cds_start": 1660,
          "cds_end": null,
          "cds_length": 2172,
          "cdna_start": 2264,
          "cdna_end": null,
          "cdna_length": 3376,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LRSAM1",
          "gene_hgnc_id": 25135,
          "hgvs_c": "c.1660C>A",
          "hgvs_p": "p.Arg554Arg",
          "transcript": "ENST00000675448.1",
          "protein_id": "ENSP00000502167.1",
          "transcript_support_level": null,
          "aa_start": 554,
          "aa_end": null,
          "aa_length": 723,
          "cds_start": 1660,
          "cds_end": null,
          "cds_length": 2172,
          "cdna_start": 1997,
          "cdna_end": null,
          "cdna_length": 3096,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LRSAM1",
          "gene_hgnc_id": 25135,
          "hgvs_c": "c.1615C>A",
          "hgvs_p": "p.Arg539Arg",
          "transcript": "ENST00000675213.1",
          "protein_id": "ENSP00000502218.1",
          "transcript_support_level": null,
          "aa_start": 539,
          "aa_end": null,
          "aa_length": 708,
          "cds_start": 1615,
          "cds_end": null,
          "cds_length": 2127,
          "cdna_start": 1801,
          "cdna_end": null,
          "cdna_length": 2913,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LRSAM1",
          "gene_hgnc_id": 25135,
          "hgvs_c": "c.1603C>A",
          "hgvs_p": "p.Arg535Arg",
          "transcript": "ENST00000676014.1",
          "protein_id": "ENSP00000502058.1",
          "transcript_support_level": null,
          "aa_start": 535,
          "aa_end": null,
          "aa_length": 704,
          "cds_start": 1603,
          "cds_end": null,
          "cds_length": 2115,
          "cdna_start": 1835,
          "cdna_end": null,
          "cdna_length": 2934,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LRSAM1",
          "gene_hgnc_id": 25135,
          "hgvs_c": "c.1579C>A",
          "hgvs_p": "p.Arg527Arg",
          "transcript": "NM_001190723.3",
          "protein_id": "NP_001177652.1",
          "transcript_support_level": null,
          "aa_start": 527,
          "aa_end": null,
          "aa_length": 696,
          "cds_start": 1579,
          "cds_end": null,
          "cds_length": 2091,
          "cdna_start": 1927,
          "cdna_end": null,
          "cdna_length": 3039,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LRSAM1",
          "gene_hgnc_id": 25135,
          "hgvs_c": "c.1579C>A",
          "hgvs_p": "p.Arg527Arg",
          "transcript": "ENST00000373324.8",
          "protein_id": "ENSP00000362421.4",
          "transcript_support_level": 2,
          "aa_start": 527,
          "aa_end": null,
          "aa_length": 696,
          "cds_start": 1579,
          "cds_end": null,
          "cds_length": 2091,
          "cdna_start": 1932,
          "cdna_end": null,
          "cdna_length": 3044,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LRSAM1",
          "gene_hgnc_id": 25135,
          "hgvs_c": "c.1579C>A",
          "hgvs_p": "p.Arg527Arg",
          "transcript": "ENST00000675883.1",
          "protein_id": "ENSP00000501592.1",
          "transcript_support_level": null,
          "aa_start": 527,
          "aa_end": null,
          "aa_length": 696,
          "cds_start": 1579,
          "cds_end": null,
          "cds_length": 2091,
          "cdna_start": 2074,
          "cdna_end": null,
          "cdna_length": 3180,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
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          "gene_symbol": "LRSAM1",
          "gene_hgnc_id": 25135,
          "hgvs_c": "c.871C>A",
          "hgvs_p": "p.Arg291Arg",
          "transcript": "NM_001384144.1",
          "protein_id": "NP_001371073.1",
          "transcript_support_level": null,
          "aa_start": 291,
          "aa_end": null,
          "aa_length": 460,
          "cds_start": 871,
          "cds_end": null,
          "cds_length": 1383,
          "cdna_start": 2003,
          "cdna_end": null,
          "cdna_length": 3115,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LRSAM1",
          "gene_hgnc_id": 25135,
          "hgvs_c": "c.871C>A",
          "hgvs_p": "p.Arg291Arg",
          "transcript": "XM_047424059.1",
          "protein_id": "XP_047280015.1",
          "transcript_support_level": null,
          "aa_start": 291,
          "aa_end": null,
          "aa_length": 460,
          "cds_start": 871,
          "cds_end": null,
          "cds_length": 1383,
          "cdna_start": 1078,
          "cdna_end": null,
          "cdna_length": 2192,
          "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": 22,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LRSAM1",
          "gene_hgnc_id": 25135,
          "hgvs_c": "n.*1388C>A",
          "hgvs_p": null,
          "transcript": "ENST00000472068.2",
          "protein_id": "ENSP00000501555.1",
          "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": 2531,
          "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": 5,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LRSAM1",
          "gene_hgnc_id": 25135,
          "hgvs_c": "n.2325C>A",
          "hgvs_p": null,
          "transcript": "ENST00000483302.6",
          "protein_id": null,
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
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          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 3421,
          "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": 24,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LRSAM1",
          "gene_hgnc_id": 25135,
          "hgvs_c": "n.*551C>A",
          "hgvs_p": null,
          "transcript": "ENST00000498513.6",
          "protein_id": "ENSP00000501637.1",
          "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": 3474,
          "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": 21,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LRSAM1",
          "gene_hgnc_id": 25135,
          "hgvs_c": "n.1660C>A",
          "hgvs_p": null,
          "transcript": "ENST00000674516.1",
          "protein_id": "ENSP00000502441.1",
          "transcript_support_level": null,
          "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": 3827,
          "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": 15,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LRSAM1",
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