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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: 11-72329709-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=72329709&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "11",
      "pos": 72329709,
      "ref": "T",
      "alt": "C",
      "effect": "missense_variant,splice_region_variant",
      "transcript": "NM_030813.6",
      "consequences": [
        {
          "aa_ref": "K",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLPB",
          "gene_hgnc_id": 30664,
          "hgvs_c": "c.961A>G",
          "hgvs_p": "p.Lys321Glu",
          "transcript": "NM_030813.6",
          "protein_id": "NP_110440.1",
          "transcript_support_level": null,
          "aa_start": 321,
          "aa_end": null,
          "aa_length": 707,
          "cds_start": 961,
          "cds_end": null,
          "cds_length": 2124,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": "ENST00000294053.9",
          "biotype": "protein_coding",
          "feature": "NM_030813.6"
        },
        {
          "aa_ref": "K",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLPB",
          "gene_hgnc_id": 30664,
          "hgvs_c": "c.961A>G",
          "hgvs_p": "p.Lys321Glu",
          "transcript": "ENST00000294053.9",
          "protein_id": "ENSP00000294053.3",
          "transcript_support_level": 1,
          "aa_start": 321,
          "aa_end": null,
          "aa_length": 707,
          "cds_start": 961,
          "cds_end": null,
          "cds_length": 2124,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": "NM_030813.6",
          "biotype": "protein_coding",
          "feature": "ENST00000294053.9"
        },
        {
          "aa_ref": "K",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLPB",
          "gene_hgnc_id": 30664,
          "hgvs_c": "c.871A>G",
          "hgvs_p": "p.Lys291Glu",
          "transcript": "NM_001258392.3",
          "protein_id": "NP_001245321.1",
          "transcript_support_level": null,
          "aa_start": 291,
          "aa_end": null,
          "aa_length": 677,
          "cds_start": 871,
          "cds_end": null,
          "cds_length": 2034,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000538039.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001258392.3"
        },
        {
          "aa_ref": "K",
          "aa_alt": "E",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLPB",
          "gene_hgnc_id": 30664,
          "hgvs_c": "c.871A>G",
          "hgvs_p": "p.Lys291Glu",
          "transcript": "ENST00000538039.6",
          "protein_id": "ENSP00000441518.1",
          "transcript_support_level": 2,
          "aa_start": 291,
          "aa_end": null,
          "aa_length": 677,
          "cds_start": 871,
          "cds_end": null,
          "cds_length": 2034,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001258392.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000538039.6"
        },
        {
          "aa_ref": "K",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLPB",
          "gene_hgnc_id": 30664,
          "hgvs_c": "c.934A>G",
          "hgvs_p": "p.Lys312Glu",
          "transcript": "ENST00000955687.1",
          "protein_id": "ENSP00000625746.1",
          "transcript_support_level": null,
          "aa_start": 312,
          "aa_end": null,
          "aa_length": 698,
          "cds_start": 934,
          "cds_end": null,
          "cds_length": 2097,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000955687.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLPB",
          "gene_hgnc_id": 30664,
          "hgvs_c": "c.961A>G",
          "hgvs_p": "p.Lys321Glu",
          "transcript": "ENST00000543042.6",
          "protein_id": "ENSP00000439746.2",
          "transcript_support_level": 2,
          "aa_start": 321,
          "aa_end": null,
          "aa_length": 692,
          "cds_start": 961,
          "cds_end": null,
          "cds_length": 2079,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000543042.6"
        },
        {
          "aa_ref": "K",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLPB",
          "gene_hgnc_id": 30664,
          "hgvs_c": "c.871A>G",
          "hgvs_p": "p.Lys291Glu",
          "transcript": "ENST00000955683.1",
          "protein_id": "ENSP00000625742.1",
          "transcript_support_level": null,
          "aa_start": 291,
          "aa_end": null,
          "aa_length": 688,
          "cds_start": 871,
          "cds_end": null,
          "cds_length": 2067,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000955683.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLPB",
          "gene_hgnc_id": 30664,
          "hgvs_c": "c.946A>G",
          "hgvs_p": "p.Lys316Glu",
          "transcript": "ENST00000866362.1",
          "protein_id": "ENSP00000536421.1",
          "transcript_support_level": null,
          "aa_start": 316,
          "aa_end": null,
          "aa_length": 687,
          "cds_start": 946,
          "cds_end": null,
          "cds_length": 2064,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000866362.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLPB",
          "gene_hgnc_id": 30664,
          "hgvs_c": "c.901A>G",
          "hgvs_p": "p.Lys301Glu",
          "transcript": "ENST00000866363.1",
          "protein_id": "ENSP00000536422.1",
          "transcript_support_level": null,
          "aa_start": 301,
          "aa_end": null,
          "aa_length": 687,
          "cds_start": 901,
          "cds_end": null,
          "cds_length": 2064,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000866363.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLPB",
          "gene_hgnc_id": 30664,
          "hgvs_c": "c.868A>G",
          "hgvs_p": "p.Lys290Glu",
          "transcript": "ENST00000955688.1",
          "protein_id": "ENSP00000625747.1",
          "transcript_support_level": null,
          "aa_start": 290,
          "aa_end": null,
          "aa_length": 676,
          "cds_start": 868,
          "cds_end": null,
          "cds_length": 2031,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000955688.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLPB",
          "gene_hgnc_id": 30664,
          "hgvs_c": "c.856A>G",
          "hgvs_p": "p.Lys286Glu",
          "transcript": "ENST00000955686.1",
          "protein_id": "ENSP00000625745.1",
          "transcript_support_level": null,
          "aa_start": 286,
          "aa_end": null,
          "aa_length": 672,
          "cds_start": 856,
          "cds_end": null,
          "cds_length": 2019,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000955686.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLPB",
          "gene_hgnc_id": 30664,
          "hgvs_c": "c.826A>G",
          "hgvs_p": "p.Lys276Glu",
          "transcript": "NM_001258394.3",
          "protein_id": "NP_001245323.1",
          "transcript_support_level": null,
          "aa_start": 276,
          "aa_end": null,
          "aa_length": 662,
          "cds_start": 826,
          "cds_end": null,
          "cds_length": 1989,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001258394.3"
        },
        {
          "aa_ref": "K",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLPB",
          "gene_hgnc_id": 30664,
          "hgvs_c": "c.871A>G",
          "hgvs_p": "p.Lys291Glu",
          "transcript": "ENST00000938927.1",
          "protein_id": "ENSP00000608986.1",
          "transcript_support_level": null,
          "aa_start": 291,
          "aa_end": null,
          "aa_length": 651,
          "cds_start": 871,
          "cds_end": null,
          "cds_length": 1956,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000938927.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLPB",
          "gene_hgnc_id": 30664,
          "hgvs_c": "c.784A>G",
          "hgvs_p": "p.Lys262Glu",
          "transcript": "NM_001258393.3",
          "protein_id": "NP_001245322.1",
          "transcript_support_level": null,
          "aa_start": 262,
          "aa_end": null,
          "aa_length": 648,
          "cds_start": 784,
          "cds_end": null,
          "cds_length": 1947,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001258393.3"
        },
        {
          "aa_ref": "K",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLPB",
          "gene_hgnc_id": 30664,
          "hgvs_c": "c.784A>G",
          "hgvs_p": "p.Lys262Glu",
          "transcript": "ENST00000340729.9",
          "protein_id": "ENSP00000340385.5",
          "transcript_support_level": 2,
          "aa_start": 262,
          "aa_end": null,
          "aa_length": 648,
          "cds_start": 784,
          "cds_end": null,
          "cds_length": 1947,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000340729.9"
        },
        {
          "aa_ref": "K",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLPB",
          "gene_hgnc_id": 30664,
          "hgvs_c": "c.871A>G",
          "hgvs_p": "p.Lys291Glu",
          "transcript": "ENST00000955685.1",
          "protein_id": "ENSP00000625744.1",
          "transcript_support_level": null,
          "aa_start": 291,
          "aa_end": null,
          "aa_length": 637,
          "cds_start": 871,
          "cds_end": null,
          "cds_length": 1914,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000955685.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLPB",
          "gene_hgnc_id": 30664,
          "hgvs_c": "c.742A>G",
          "hgvs_p": "p.Lys248Glu",
          "transcript": "ENST00000955684.1",
          "protein_id": "ENSP00000625743.1",
          "transcript_support_level": null,
          "aa_start": 248,
          "aa_end": null,
          "aa_length": 634,
          "cds_start": 742,
          "cds_end": null,
          "cds_length": 1905,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000955684.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLPB",
          "gene_hgnc_id": 30664,
          "hgvs_c": "c.559A>G",
          "hgvs_p": "p.Lys187Glu",
          "transcript": "ENST00000866364.1",
          "protein_id": "ENSP00000536423.1",
          "transcript_support_level": null,
          "aa_start": 187,
          "aa_end": null,
          "aa_length": 573,
          "cds_start": 559,
          "cds_end": null,
          "cds_length": 1722,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000866364.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLPB",
          "gene_hgnc_id": 30664,
          "hgvs_c": "c.358A>G",
          "hgvs_p": "p.Lys120Glu",
          "transcript": "ENST00000642288.1",
          "protein_id": "ENSP00000495167.1",
          "transcript_support_level": null,
          "aa_start": 120,
          "aa_end": null,
          "aa_length": 381,
          "cds_start": 358,
          "cds_end": null,
          "cds_length": 1146,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000642288.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
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}
For research and educational, non-commercial use only. Not for clinical or diagnostic use. GeneBe does not provide medical advice. Data use for AI modeling is prohibited: if used, the cost is $0.001 per byte of downloaded uncompressed data.