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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: 3-9657375-G-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=9657375&ref=G&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "3",
      "pos": 9657375,
      "ref": "G",
      "alt": "T",
      "effect": "intron_variant",
      "transcript": "ENST00000296003.9",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "MTMR14",
          "gene_hgnc_id": 26190,
          "hgvs_c": "c.308+3606G>T",
          "hgvs_p": null,
          "transcript": "NM_001077525.3",
          "protein_id": "NP_001070993.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 650,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1953,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2452,
          "mane_select": "ENST00000296003.9",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "MTMR14",
          "gene_hgnc_id": 26190,
          "hgvs_c": "c.308+3606G>T",
          "hgvs_p": null,
          "transcript": "ENST00000296003.9",
          "protein_id": "ENSP00000296003.5",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 650,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1953,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2452,
          "mane_select": "NM_001077525.3",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "MTMR14",
          "gene_hgnc_id": 26190,
          "hgvs_c": "c.308+3606G>T",
          "hgvs_p": null,
          "transcript": "ENST00000353332.9",
          "protein_id": "ENSP00000323462.8",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 598,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1797,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2368,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "MTMR14",
          "gene_hgnc_id": 26190,
          "hgvs_c": "c.308+3606G>T",
          "hgvs_p": null,
          "transcript": "ENST00000351233.9",
          "protein_id": "ENSP00000334070.7",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 538,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1617,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2105,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "MTMR14",
          "gene_hgnc_id": 26190,
          "hgvs_c": "c.377+3606G>T",
          "hgvs_p": null,
          "transcript": "NM_001400518.1",
          "protein_id": "NP_001387447.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 673,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2022,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2654,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "MTMR14",
          "gene_hgnc_id": 26190,
          "hgvs_c": "c.308+3606G>T",
          "hgvs_p": null,
          "transcript": "NM_001400519.1",
          "protein_id": "NP_001387448.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 649,
          "cds_start": -4,
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          "cds_length": 1950,
          "cdna_start": null,
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          "cdna_length": 2449,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "MTMR14",
          "gene_hgnc_id": 26190,
          "hgvs_c": "c.308+3606G>T",
          "hgvs_p": null,
          "transcript": "NM_001400520.1",
          "protein_id": "NP_001387449.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 625,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1878,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2377,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "MTMR14",
          "gene_hgnc_id": 26190,
          "hgvs_c": "c.377+3606G>T",
          "hgvs_p": null,
          "transcript": "NM_001400521.1",
          "protein_id": "NP_001387450.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 621,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1866,
          "cdna_start": null,
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          "cdna_length": 2498,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 18,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "MTMR14",
          "gene_hgnc_id": 26190,
          "hgvs_c": "c.308+3606G>T",
          "hgvs_p": null,
          "transcript": "NM_001077526.3",
          "protein_id": "NP_001070994.1",
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        },
        {
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          "intron_rank": 2,
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          "gene_symbol": "MTMR14",
          "gene_hgnc_id": 26190,
          "hgvs_c": "c.308+3606G>T",
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          "transcript": "NM_001400522.1",
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}