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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: 2-26214490-G-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=26214490&ref=G&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "2",
      "pos": 26214490,
      "ref": "G",
      "alt": "C",
      "effect": "missense_variant",
      "transcript": "NM_000182.5",
      "consequences": [
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HADHA",
          "gene_hgnc_id": 4801,
          "hgvs_c": "c.871C>G",
          "hgvs_p": "p.Arg291Gly",
          "transcript": "NM_000182.5",
          "protein_id": "NP_000173.2",
          "transcript_support_level": null,
          "aa_start": 291,
          "aa_end": null,
          "aa_length": 763,
          "cds_start": 871,
          "cds_end": null,
          "cds_length": 2292,
          "cdna_start": 907,
          "cdna_end": null,
          "cdna_length": 2943,
          "mane_select": "ENST00000380649.8",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_000182.5"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HADHA",
          "gene_hgnc_id": 4801,
          "hgvs_c": "c.871C>G",
          "hgvs_p": "p.Arg291Gly",
          "transcript": "ENST00000380649.8",
          "protein_id": "ENSP00000370023.3",
          "transcript_support_level": 1,
          "aa_start": 291,
          "aa_end": null,
          "aa_length": 763,
          "cds_start": 871,
          "cds_end": null,
          "cds_length": 2292,
          "cdna_start": 907,
          "cdna_end": null,
          "cdna_length": 2943,
          "mane_select": "NM_000182.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000380649.8"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HADHA",
          "gene_hgnc_id": 4801,
          "hgvs_c": "c.871C>G",
          "hgvs_p": "p.Arg291Gly",
          "transcript": "ENST00000942149.1",
          "protein_id": "ENSP00000612208.1",
          "transcript_support_level": null,
          "aa_start": 291,
          "aa_end": null,
          "aa_length": 818,
          "cds_start": 871,
          "cds_end": null,
          "cds_length": 2457,
          "cdna_start": 877,
          "cdna_end": null,
          "cdna_length": 2844,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000942149.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HADHA",
          "gene_hgnc_id": 4801,
          "hgvs_c": "c.886C>G",
          "hgvs_p": "p.Arg296Gly",
          "transcript": "ENST00000942146.1",
          "protein_id": "ENSP00000612205.1",
          "transcript_support_level": null,
          "aa_start": 296,
          "aa_end": null,
          "aa_length": 795,
          "cds_start": 886,
          "cds_end": null,
          "cds_length": 2388,
          "cdna_start": 920,
          "cdna_end": null,
          "cdna_length": 2802,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000942146.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HADHA",
          "gene_hgnc_id": 4801,
          "hgvs_c": "c.871C>G",
          "hgvs_p": "p.Arg291Gly",
          "transcript": "ENST00000492433.2",
          "protein_id": "ENSP00000438039.2",
          "transcript_support_level": 2,
          "aa_start": 291,
          "aa_end": null,
          "aa_length": 792,
          "cds_start": 871,
          "cds_end": null,
          "cds_length": 2379,
          "cdna_start": 879,
          "cdna_end": null,
          "cdna_length": 2982,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000492433.2"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HADHA",
          "gene_hgnc_id": 4801,
          "hgvs_c": "c.871C>G",
          "hgvs_p": "p.Arg291Gly",
          "transcript": "ENST00000859324.1",
          "protein_id": "ENSP00000529383.1",
          "transcript_support_level": null,
          "aa_start": 291,
          "aa_end": null,
          "aa_length": 790,
          "cds_start": 871,
          "cds_end": null,
          "cds_length": 2373,
          "cdna_start": 1135,
          "cdna_end": null,
          "cdna_length": 3251,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000859324.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HADHA",
          "gene_hgnc_id": 4801,
          "hgvs_c": "c.865C>G",
          "hgvs_p": "p.Arg289Gly",
          "transcript": "ENST00000942150.1",
          "protein_id": "ENSP00000612209.1",
          "transcript_support_level": null,
          "aa_start": 289,
          "aa_end": null,
          "aa_length": 788,
          "cds_start": 865,
          "cds_end": null,
          "cds_length": 2367,
          "cdna_start": 871,
          "cdna_end": null,
          "cdna_length": 2755,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000942150.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HADHA",
          "gene_hgnc_id": 4801,
          "hgvs_c": "c.922C>G",
          "hgvs_p": "p.Arg308Gly",
          "transcript": "ENST00000859333.1",
          "protein_id": "ENSP00000529392.1",
          "transcript_support_level": null,
          "aa_start": 308,
          "aa_end": null,
          "aa_length": 780,
          "cds_start": 922,
          "cds_end": null,
          "cds_length": 2343,
          "cdna_start": 930,
          "cdna_end": null,
          "cdna_length": 2729,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000859333.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HADHA",
          "gene_hgnc_id": 4801,
          "hgvs_c": "c.871C>G",
          "hgvs_p": "p.Arg291Gly",
          "transcript": "ENST00000942153.1",
          "protein_id": "ENSP00000612212.1",
          "transcript_support_level": null,
          "aa_start": 291,
          "aa_end": null,
          "aa_length": 775,
          "cds_start": 871,
          "cds_end": null,
          "cds_length": 2328,
          "cdna_start": 877,
          "cdna_end": null,
          "cdna_length": 2712,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000942153.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HADHA",
          "gene_hgnc_id": 4801,
          "hgvs_c": "c.871C>G",
          "hgvs_p": "p.Arg291Gly",
          "transcript": "ENST00000942145.1",
          "protein_id": "ENSP00000612204.1",
          "transcript_support_level": null,
          "aa_start": 291,
          "aa_end": null,
          "aa_length": 769,
          "cds_start": 871,
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          "cds_length": 2310,
          "cdna_start": 924,
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          "cdna_length": 2744,
          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
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          "gene_symbol": "HADHA",
          "gene_hgnc_id": 4801,
          "hgvs_c": "c.886C>G",
          "hgvs_p": "p.Arg296Gly",
          "transcript": "ENST00000859325.1",
          "protein_id": "ENSP00000529384.1",
          "transcript_support_level": null,
          "aa_start": 296,
          "aa_end": null,
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          "cds_start": 886,
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          "cdna_start": 922,
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          "cdna_length": 2958,
          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "R",
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          "consequences": [
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          ],
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          "intron_rank": null,
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          "gene_symbol": "HADHA",
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          "hgvs_c": "c.871C>G",
          "hgvs_p": "p.Arg291Gly",
          "transcript": "ENST00000942141.1",
          "protein_id": "ENSP00000612200.1",
          "transcript_support_level": null,
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          "aa_end": null,
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          "cds_start": 871,
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          "cdna_start": 969,
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          "mane_select": null,
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          "biotype": "protein_coding",
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        {
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          "strand": false,
          "consequences": [
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          ],
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          "intron_rank": null,
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          "gene_symbol": "HADHA",
          "gene_hgnc_id": 4801,
          "hgvs_c": "c.871C>G",
          "hgvs_p": "p.Arg291Gly",
          "transcript": "ENST00000942144.1",
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        },
        {
          "aa_ref": "R",
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          "strand": false,
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          ],
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          "intron_rank": null,
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          "gene_symbol": "HADHA",
          "gene_hgnc_id": 4801,
          "hgvs_c": "c.871C>G",
          "hgvs_p": "p.Arg291Gly",
          "transcript": "ENST00000925541.1",
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        {
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          "gene_symbol": "HADHA",
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          "transcript": "ENST00000942142.1",
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        },
        {
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          "intron_rank": null,
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          "gene_symbol": "HADHA",
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        {
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          "gene_symbol": "HADHA",
          "gene_hgnc_id": 4801,
          "hgvs_c": "c.862C>G",
          "hgvs_p": "p.Arg288Gly",
          "transcript": "ENST00000942147.1",
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          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
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          "consequences": [
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          ],
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          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HADHA",
          "gene_hgnc_id": 4801,
          "hgvs_c": "c.871C>G",
          "hgvs_p": "p.Arg291Gly",
          "transcript": "ENST00000859331.1",
          "protein_id": "ENSP00000529390.1",
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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.