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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: 14-64458272-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=64458272&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "14",
      "pos": 64458272,
      "ref": "C",
      "alt": "T",
      "effect": "missense_variant",
      "transcript": "NM_005956.4",
      "consequences": [
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MTHFD1",
          "gene_hgnc_id": 7432,
          "hgvs_c": "c.2777C>T",
          "hgvs_p": "p.Pro926Leu",
          "transcript": "NM_005956.4",
          "protein_id": "NP_005947.3",
          "transcript_support_level": null,
          "aa_start": 926,
          "aa_end": null,
          "aa_length": 935,
          "cds_start": 2777,
          "cds_end": null,
          "cds_length": 2808,
          "cdna_start": 2852,
          "cdna_end": null,
          "cdna_length": 3154,
          "mane_select": "ENST00000652337.1",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_005956.4"
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MTHFD1",
          "gene_hgnc_id": 7432,
          "hgvs_c": "c.2777C>T",
          "hgvs_p": "p.Pro926Leu",
          "transcript": "ENST00000652337.1",
          "protein_id": "ENSP00000498336.1",
          "transcript_support_level": null,
          "aa_start": 926,
          "aa_end": null,
          "aa_length": 935,
          "cds_start": 2777,
          "cds_end": null,
          "cds_length": 2808,
          "cdna_start": 2852,
          "cdna_end": null,
          "cdna_length": 3154,
          "mane_select": "NM_005956.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000652337.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ZBTB25",
          "gene_hgnc_id": 13112,
          "hgvs_c": "c.174-8634G>A",
          "hgvs_p": null,
          "transcript": "ENST00000555220.5",
          "protein_id": "ENSP00000450718.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 86,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 261,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1440,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000555220.5"
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MTHFD1",
          "gene_hgnc_id": 7432,
          "hgvs_c": "c.2858C>T",
          "hgvs_p": "p.Pro953Leu",
          "transcript": "ENST00000900031.1",
          "protein_id": "ENSP00000570090.1",
          "transcript_support_level": null,
          "aa_start": 953,
          "aa_end": null,
          "aa_length": 962,
          "cds_start": 2858,
          "cds_end": null,
          "cds_length": 2889,
          "cdna_start": 2901,
          "cdna_end": null,
          "cdna_length": 3182,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000900031.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MTHFD1",
          "gene_hgnc_id": 7432,
          "hgvs_c": "c.2828C>T",
          "hgvs_p": "p.Pro943Leu",
          "transcript": "ENST00000940490.1",
          "protein_id": "ENSP00000610549.1",
          "transcript_support_level": null,
          "aa_start": 943,
          "aa_end": null,
          "aa_length": 952,
          "cds_start": 2828,
          "cds_end": null,
          "cds_length": 2859,
          "cdna_start": 2937,
          "cdna_end": null,
          "cdna_length": 3219,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000940490.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MTHFD1",
          "gene_hgnc_id": 7432,
          "hgvs_c": "c.2777C>T",
          "hgvs_p": "p.Pro926Leu",
          "transcript": "ENST00000940495.1",
          "protein_id": "ENSP00000610554.1",
          "transcript_support_level": null,
          "aa_start": 926,
          "aa_end": null,
          "aa_length": 935,
          "cds_start": 2777,
          "cds_end": null,
          "cds_length": 2808,
          "cdna_start": 2851,
          "cdna_end": null,
          "cdna_length": 4581,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000940495.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MTHFD1",
          "gene_hgnc_id": 7432,
          "hgvs_c": "c.2777C>T",
          "hgvs_p": "p.Pro926Leu",
          "transcript": "ENST00000941180.1",
          "protein_id": "ENSP00000611239.1",
          "transcript_support_level": null,
          "aa_start": 926,
          "aa_end": null,
          "aa_length": 935,
          "cds_start": 2777,
          "cds_end": null,
          "cds_length": 2808,
          "cdna_start": 2852,
          "cdna_end": null,
          "cdna_length": 3019,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000941180.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MTHFD1",
          "gene_hgnc_id": 7432,
          "hgvs_c": "c.2768C>T",
          "hgvs_p": "p.Pro923Leu",
          "transcript": "ENST00000900023.1",
          "protein_id": "ENSP00000570082.1",
          "transcript_support_level": null,
          "aa_start": 923,
          "aa_end": null,
          "aa_length": 932,
          "cds_start": 2768,
          "cds_end": null,
          "cds_length": 2799,
          "cdna_start": 2868,
          "cdna_end": null,
          "cdna_length": 3152,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000900023.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MTHFD1",
          "gene_hgnc_id": 7432,
          "hgvs_c": "c.2750C>T",
          "hgvs_p": "p.Pro917Leu",
          "transcript": "ENST00000940488.1",
          "protein_id": "ENSP00000610547.1",
          "transcript_support_level": null,
          "aa_start": 917,
          "aa_end": null,
          "aa_length": 926,
          "cds_start": 2750,
          "cds_end": null,
          "cds_length": 2781,
          "cdna_start": 2872,
          "cdna_end": null,
          "cdna_length": 3156,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000940488.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MTHFD1",
          "gene_hgnc_id": 7432,
          "hgvs_c": "c.2708C>T",
          "hgvs_p": "p.Pro903Leu",
          "transcript": "ENST00000900025.1",
          "protein_id": "ENSP00000570084.1",
          "transcript_support_level": null,
          "aa_start": 903,
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          "aa_length": 912,
          "cds_start": 2708,
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          "cdna_start": 2793,
          "cdna_end": null,
          "cdna_length": 3075,
          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "P",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MTHFD1",
          "gene_hgnc_id": 7432,
          "hgvs_c": "c.2636C>T",
          "hgvs_p": "p.Pro879Leu",
          "transcript": "ENST00000940494.1",
          "protein_id": "ENSP00000610553.1",
          "transcript_support_level": null,
          "aa_start": 879,
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          "aa_length": 888,
          "cds_start": 2636,
          "cds_end": null,
          "cds_length": 2667,
          "cdna_start": 2724,
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          "mane_select": null,
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        {
          "aa_ref": "P",
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          "intron_rank": null,
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          "gene_symbol": "MTHFD1",
          "gene_hgnc_id": 7432,
          "hgvs_c": "c.2630C>T",
          "hgvs_p": "p.Pro877Leu",
          "transcript": "ENST00000940489.1",
          "protein_id": "ENSP00000610548.1",
          "transcript_support_level": null,
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          "aa_length": 886,
          "cds_start": 2630,
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          "cdna_start": 2752,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "P",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
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          ],
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          "intron_rank": null,
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          "gene_symbol": "MTHFD1",
          "gene_hgnc_id": 7432,
          "hgvs_c": "c.2624C>T",
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          "transcript": "ENST00000697168.1",
          "protein_id": "ENSP00000513156.1",
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          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "P",
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          "strand": true,
          "consequences": [
            "missense_variant"
          ],
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          "intron_rank": null,
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          "gene_symbol": "MTHFD1",
          "gene_hgnc_id": 7432,
          "hgvs_c": "c.2624C>T",
          "hgvs_p": "p.Pro875Leu",
          "transcript": "ENST00000940486.1",
          "protein_id": "ENSP00000610545.1",
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        {
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          "gene_symbol": "MTHFD1",
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          "hgvs_p": "p.Pro856Leu",
          "transcript": "ENST00000940485.1",
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          "cdna_start": 2719,
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          "mane_select": null,
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          "biotype": "protein_coding",
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        {
          "aa_ref": "P",
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          "strand": true,
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          "intron_rank": null,
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          "gene_symbol": "MTHFD1",
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          "hgvs_c": "c.2537C>T",
          "hgvs_p": "p.Pro846Leu",
          "transcript": "ENST00000900024.1",
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        {
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          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 28,
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          "exon_count": 29,
          "intron_rank": null,
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          "gene_symbol": "MTHFD1",
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          "hgvs_c": "c.2534C>T",
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        {
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        {
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          "biotype": "protein_coding",
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        },
        {
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          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
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          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MTHFD1",
          "gene_hgnc_id": 7432,
          "hgvs_c": "c.2528C>T",
          "hgvs_p": "p.Pro843Leu",
          "transcript": "ENST00000697174.1",
          "protein_id": "ENSP00000513160.1",
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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.