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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: 7-47303192-G-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=47303192&ref=G&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "7",
      "pos": 47303192,
      "ref": "G",
      "alt": "T",
      "effect": "missense_variant",
      "transcript": "ENST00000311160.14",
      "consequences": [
        {
          "aa_ref": "T",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TNS3",
          "gene_hgnc_id": 21616,
          "hgvs_c": "c.3215C>A",
          "hgvs_p": "p.Thr1072Lys",
          "transcript": "NM_022748.12",
          "protein_id": "NP_073585.8",
          "transcript_support_level": null,
          "aa_start": 1072,
          "aa_end": null,
          "aa_length": 1445,
          "cds_start": 3215,
          "cds_end": null,
          "cds_length": 4338,
          "cdna_start": 3540,
          "cdna_end": null,
          "cdna_length": 7585,
          "mane_select": "ENST00000311160.14",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "K",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TNS3",
          "gene_hgnc_id": 21616,
          "hgvs_c": "c.3215C>A",
          "hgvs_p": "p.Thr1072Lys",
          "transcript": "ENST00000311160.14",
          "protein_id": "ENSP00000312143.9",
          "transcript_support_level": 1,
          "aa_start": 1072,
          "aa_end": null,
          "aa_length": 1445,
          "cds_start": 3215,
          "cds_end": null,
          "cds_length": 4338,
          "cdna_start": 3540,
          "cdna_end": null,
          "cdna_length": 7585,
          "mane_select": "NM_022748.12",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TNS3",
          "gene_hgnc_id": 21616,
          "hgvs_c": "c.3557C>A",
          "hgvs_p": "p.Thr1186Lys",
          "transcript": "NM_001410877.1",
          "protein_id": "NP_001397806.1",
          "transcript_support_level": null,
          "aa_start": 1186,
          "aa_end": null,
          "aa_length": 1559,
          "cds_start": 3557,
          "cds_end": null,
          "cds_length": 4680,
          "cdna_start": 3922,
          "cdna_end": null,
          "cdna_length": 7967,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TNS3",
          "gene_hgnc_id": 21616,
          "hgvs_c": "c.3557C>A",
          "hgvs_p": "p.Thr1186Lys",
          "transcript": "ENST00000705350.1",
          "protein_id": "ENSP00000516118.1",
          "transcript_support_level": null,
          "aa_start": 1186,
          "aa_end": null,
          "aa_length": 1559,
          "cds_start": 3557,
          "cds_end": null,
          "cds_length": 4680,
          "cdna_start": 3792,
          "cdna_end": null,
          "cdna_length": 7837,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TNS3",
          "gene_hgnc_id": 21616,
          "hgvs_c": "c.3524C>A",
          "hgvs_p": "p.Thr1175Lys",
          "transcript": "NM_001410878.1",
          "protein_id": "NP_001397807.1",
          "transcript_support_level": null,
          "aa_start": 1175,
          "aa_end": null,
          "aa_length": 1548,
          "cds_start": 3524,
          "cds_end": null,
          "cds_length": 4647,
          "cdna_start": 3639,
          "cdna_end": null,
          "cdna_length": 7684,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TNS3",
          "gene_hgnc_id": 21616,
          "hgvs_c": "c.3524C>A",
          "hgvs_p": "p.Thr1175Lys",
          "transcript": "ENST00000457718.6",
          "protein_id": "ENSP00000414358.2",
          "transcript_support_level": 5,
          "aa_start": 1175,
          "aa_end": null,
          "aa_length": 1548,
          "cds_start": 3524,
          "cds_end": null,
          "cds_length": 4647,
          "cdna_start": 3611,
          "cdna_end": null,
          "cdna_length": 7656,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TNS3",
          "gene_hgnc_id": 21616,
          "hgvs_c": "c.3482C>A",
          "hgvs_p": "p.Thr1161Lys",
          "transcript": "ENST00000450444.6",
          "protein_id": "ENSP00000396914.2",
          "transcript_support_level": 5,
          "aa_start": 1161,
          "aa_end": null,
          "aa_length": 1534,
          "cds_start": 3482,
          "cds_end": null,
          "cds_length": 4605,
          "cdna_start": 3682,
          "cdna_end": null,
          "cdna_length": 7727,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TNS3",
          "gene_hgnc_id": 21616,
          "hgvs_c": "c.1886C>A",
          "hgvs_p": "p.Thr629Lys",
          "transcript": "ENST00000705474.1",
          "protein_id": "ENSP00000516130.1",
          "transcript_support_level": null,
          "aa_start": 629,
          "aa_end": null,
          "aa_length": 1002,
          "cds_start": 1886,
          "cds_end": null,
          "cds_length": 3009,
          "cdna_start": 2529,
          "cdna_end": null,
          "cdna_length": 6572,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TNS3",
          "gene_hgnc_id": 21616,
          "hgvs_c": "c.524C>A",
          "hgvs_p": "p.Thr175Lys",
          "transcript": "ENST00000705473.1",
          "protein_id": "ENSP00000516129.1",
          "transcript_support_level": null,
          "aa_start": 175,
          "aa_end": null,
          "aa_length": 548,
          "cds_start": 524,
          "cds_end": null,
          "cds_length": 1647,
          "cdna_start": 723,
          "cdna_end": null,
          "cdna_length": 4766,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TNS3",
          "gene_hgnc_id": 21616,
          "hgvs_c": "c.524C>A",
          "hgvs_p": "p.Thr175Lys",
          "transcript": "ENST00000705472.1",
          "protein_id": "ENSP00000516128.1",
          "transcript_support_level": null,
          "aa_start": 175,
          "aa_end": null,
          "aa_length": 501,
          "cds_start": 524,
          "cds_end": null,
          "cds_length": 1506,
          "cdna_start": 723,
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          "mane_select": null,
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        },
        {
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          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 24,
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          "exon_count": 33,
          "intron_rank": null,
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          "gene_symbol": "TNS3",
          "gene_hgnc_id": 21616,
          "hgvs_c": "c.3605C>A",
          "hgvs_p": "p.Thr1202Lys",
          "transcript": "XM_047420723.1",
          "protein_id": "XP_047276679.1",
          "transcript_support_level": null,
          "aa_start": 1202,
          "aa_end": null,
          "aa_length": 1575,
          "cds_start": 3605,
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          "cds_length": 4728,
          "cdna_start": 3711,
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          "mane_select": null,
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        },
        {
          "aa_ref": "T",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 24,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
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          "gene_symbol": "TNS3",
          "gene_hgnc_id": 21616,
          "hgvs_c": "c.3605C>A",
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          "transcript": "XM_047420724.1",
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          "cds_start": 3605,
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        },
        {
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          "consequences": [
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          ],
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          "intron_rank": null,
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          "gene_symbol": "TNS3",
          "gene_hgnc_id": 21616,
          "hgvs_c": "c.3563C>A",
          "hgvs_p": "p.Thr1188Lys",
          "transcript": "XM_047420725.1",
          "protein_id": "XP_047276681.1",
          "transcript_support_level": null,
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        {
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          "protein_coding": true,
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          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
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          "gene_symbol": "TNS3",
          "gene_hgnc_id": 21616,
          "hgvs_c": "c.3524C>A",
          "hgvs_p": "p.Thr1175Lys",
          "transcript": "XM_017012537.2",
          "protein_id": "XP_016868026.1",
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        },
        {
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          ],
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          "hgvs_c": "c.3518C>A",
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        },
        {
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          ],
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          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
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          "gene_symbol": "TNS3",
          "gene_hgnc_id": 21616,
          "hgvs_c": "c.3491C>A",
          "hgvs_p": "p.Thr1164Lys",
          "transcript": "XM_047420728.1",
          "protein_id": "XP_047276684.1",
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        {
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          ],
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          "intron_rank": null,
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          "gene_symbol": "TNS3",
          "gene_hgnc_id": 21616,
          "hgvs_c": "c.3485C>A",
          "hgvs_p": "p.Thr1162Lys",
          "transcript": "XM_047420729.1",
          "protein_id": "XP_047276685.1",
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        {
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          "gene_symbol": "TNS3",
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          "transcript": "XM_011515478.3",
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        {
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          ],
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          "hgvs_c": "c.3344C>A",
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        {
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          "consequences": [
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          ],
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          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
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          "gene_symbol": "TNS3",
          "gene_hgnc_id": 21616,
          "hgvs_c": "c.3215C>A",
          "hgvs_p": "p.Thr1072Lys",
          "transcript": "XM_011515480.4",
          "protein_id": "XP_011513782.1",
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          "cdna_start": 3608,
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        },
        {
          "aa_ref": "T",
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          "strand": false,
          "consequences": [
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          ],
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