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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: 5-88234436-A-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=88234436&ref=A&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "5",
      "pos": 88234436,
      "ref": "A",
      "alt": "C",
      "effect": "intron_variant",
      "transcript": "ENST00000296595.11",
      "consequences": [
        {
          "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": 12,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "TMEM161B",
          "gene_hgnc_id": 28483,
          "hgvs_c": "c.108-5908T>G",
          "hgvs_p": null,
          "transcript": "NM_153354.5",
          "protein_id": "NP_699185.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 487,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1464,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2750,
          "mane_select": "ENST00000296595.11",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "TMEM161B",
          "gene_hgnc_id": 28483,
          "hgvs_c": "c.108-5908T>G",
          "hgvs_p": null,
          "transcript": "ENST00000296595.11",
          "protein_id": "ENSP00000296595.6",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 487,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1464,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2750,
          "mane_select": "NM_153354.5",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "TMEM161B",
          "gene_hgnc_id": 28483,
          "hgvs_c": "n.-274-5908T>G",
          "hgvs_p": null,
          "transcript": "ENST00000510089.5",
          "protein_id": "ENSP00000423380.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7608,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "TMEM161B",
          "gene_hgnc_id": 28483,
          "hgvs_c": "n.108-5908T>G",
          "hgvs_p": null,
          "transcript": "ENST00000511087.5",
          "protein_id": "ENSP00000421805.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2804,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TMEM161B",
          "gene_hgnc_id": 28483,
          "hgvs_c": "c.-2992T>G",
          "hgvs_p": null,
          "transcript": "XM_047416810.1",
          "protein_id": "XP_047272766.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 360,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1083,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 11559,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 15,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "TMEM161B",
          "gene_hgnc_id": 28483,
          "hgvs_c": "c.108-5908T>G",
          "hgvs_p": null,
          "transcript": "NM_001349407.2",
          "protein_id": "NP_001336336.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 534,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1605,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2834,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 13,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "TMEM161B",
          "gene_hgnc_id": 28483,
          "hgvs_c": "c.108-5908T>G",
          "hgvs_p": null,
          "transcript": "NM_001289007.2",
          "protein_id": "NP_001275936.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 502,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1509,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2050,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 13,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "TMEM161B",
          "gene_hgnc_id": 28483,
          "hgvs_c": "c.108-5908T>G",
          "hgvs_p": null,
          "transcript": "ENST00000514135.5",
          "protein_id": "ENSP00000426354.1",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 502,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1509,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2035,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 13,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "TMEM161B",
          "gene_hgnc_id": 28483,
          "hgvs_c": "c.75-5908T>G",
          "hgvs_p": null,
          "transcript": "NM_001289008.2",
          "protein_id": "NP_001275937.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 476,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1431,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2882,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 13,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "TMEM161B",
          "gene_hgnc_id": 28483,
          "hgvs_c": "c.75-5908T>G",
          "hgvs_p": null,
          "transcript": "ENST00000512429.5",
          "protein_id": "ENSP00000421498.1",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 476,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1431,
          "cdna_start": null,
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          "cdna_length": 1796,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 12,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "TMEM161B",
          "gene_hgnc_id": 28483,
          "hgvs_c": "c.-401-5908T>G",
          "hgvs_p": null,
          "transcript": "NM_001349400.2",
          "protein_id": "NP_001336329.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 305,
          "cds_start": -4,
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          "cds_length": 918,
          "cdna_start": null,
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          "cdna_length": 2712,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "TMEM161B",
          "gene_hgnc_id": 28483,
          "hgvs_c": "c.-303-5908T>G",
          "hgvs_p": null,
          "transcript": "NM_001349402.2",
          "protein_id": "NP_001336331.1",
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          "cdna_start": null,
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        {
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          "intron_rank": 1,
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          "gene_symbol": "TMEM161B",
          "gene_hgnc_id": 28483,
          "hgvs_c": "c.-401-5908T>G",
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          "transcript": "NM_001349403.2",
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          "mane_select": null,
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        {
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          "intron_rank": 1,
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          "gene_symbol": "TMEM161B",
          "gene_hgnc_id": 28483,
          "hgvs_c": "c.-303-5908T>G",
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          "transcript": "NM_001349405.2",
          "protein_id": "NP_001336334.1",
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          "mane_select": null,
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        },
        {
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          "gene_symbol": "TMEM161B",
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        {
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          "gene_symbol": "TMEM161B",
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          "hgvs_c": "n.501-5908T>G",
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          "transcript": "ENST00000503194.1",
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        {
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          "intron_rank": 1,
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          "gene_symbol": "TMEM161B",
          "gene_hgnc_id": 28483,
          "hgvs_c": "n.110-5908T>G",
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        {
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 3,
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          "gene_symbol": "TMEM161B",
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          "gene_symbol": "TMEM161B",
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        {
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        },
        {
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "TMEM161B",
          "gene_hgnc_id": 28483,
          "hgvs_c": "n.62-5908T>G",
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          "transcript": "ENST00000513487.5",
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}