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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: 3-113615386-A-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=113615386&ref=A&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "3",
      "pos": 113615386,
      "ref": "A",
      "alt": "T",
      "effect": "intron_variant",
      "transcript": "ENST00000264852.9",
      "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": 25,
          "intron_rank": 19,
          "intron_rank_end": null,
          "gene_symbol": "SIDT1",
          "gene_hgnc_id": 25967,
          "hgvs_c": "c.1967-714A>T",
          "hgvs_p": null,
          "transcript": "NM_017699.3",
          "protein_id": "NP_060169.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 827,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2484,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4818,
          "mane_select": "ENST00000264852.9",
          "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": 25,
          "intron_rank": 19,
          "intron_rank_end": null,
          "gene_symbol": "SIDT1",
          "gene_hgnc_id": 25967,
          "hgvs_c": "c.1967-714A>T",
          "hgvs_p": null,
          "transcript": "ENST00000264852.9",
          "protein_id": "ENSP00000264852.4",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 827,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2484,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4818,
          "mane_select": "NM_017699.3",
          "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": 26,
          "intron_rank": 20,
          "intron_rank_end": null,
          "gene_symbol": "SIDT1",
          "gene_hgnc_id": 25967,
          "hgvs_c": "c.1981+309A>T",
          "hgvs_p": null,
          "transcript": "ENST00000393830.5",
          "protein_id": "ENSP00000377416.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 832,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2499,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4544,
          "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": 26,
          "intron_rank": 20,
          "intron_rank_end": null,
          "gene_symbol": "SIDT1",
          "gene_hgnc_id": 25967,
          "hgvs_c": "c.1981+309A>T",
          "hgvs_p": null,
          "transcript": "NM_001322294.2",
          "protein_id": "NP_001309223.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 833,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2502,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4836,
          "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": 26,
          "intron_rank": 20,
          "intron_rank_end": null,
          "gene_symbol": "SIDT1",
          "gene_hgnc_id": 25967,
          "hgvs_c": "c.1981+309A>T",
          "hgvs_p": null,
          "transcript": "NM_001308350.2",
          "protein_id": "NP_001295279.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 832,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2499,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4833,
          "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": 25,
          "intron_rank": 19,
          "intron_rank_end": null,
          "gene_symbol": "SIDT1",
          "gene_hgnc_id": 25967,
          "hgvs_c": "c.1897+309A>T",
          "hgvs_p": null,
          "transcript": "NM_001322295.2",
          "protein_id": "NP_001309224.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 804,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2415,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4749,
          "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": 24,
          "intron_rank": 18,
          "intron_rank_end": null,
          "gene_symbol": "SIDT1",
          "gene_hgnc_id": 25967,
          "hgvs_c": "c.1795+309A>T",
          "hgvs_p": null,
          "transcript": "NM_001322296.2",
          "protein_id": "NP_001309225.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 770,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2313,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4647,
          "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": 25,
          "intron_rank": 19,
          "intron_rank_end": null,
          "gene_symbol": "SIDT1",
          "gene_hgnc_id": 25967,
          "hgvs_c": "c.1528+309A>T",
          "hgvs_p": null,
          "transcript": "NM_001322297.2",
          "protein_id": "NP_001309226.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 681,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2046,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4711,
          "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": 25,
          "intron_rank": 19,
          "intron_rank_end": null,
          "gene_symbol": "SIDT1",
          "gene_hgnc_id": 25967,
          "hgvs_c": "c.1438+309A>T",
          "hgvs_p": null,
          "transcript": "NM_001322298.2",
          "protein_id": "NP_001309227.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 651,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1956,
          "cdna_start": null,
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          "cdna_length": 4810,
          "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": 25,
          "intron_rank": 19,
          "intron_rank_end": null,
          "gene_symbol": "SIDT1",
          "gene_hgnc_id": 25967,
          "hgvs_c": "c.1226-714A>T",
          "hgvs_p": null,
          "transcript": "NM_001322299.2",
          "protein_id": "NP_001309228.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 580,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1743,
          "cdna_start": null,
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          "cdna_length": 4837,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 25,
          "intron_rank": 19,
          "intron_rank_end": null,
          "gene_symbol": "SIDT1",
          "gene_hgnc_id": 25967,
          "hgvs_c": "c.700+309A>T",
          "hgvs_p": null,
          "transcript": "NM_001322300.2",
          "protein_id": "NP_001309229.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 405,
          "cds_start": -4,
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          "cds_length": 1218,
          "cdna_start": null,
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          "cdna_length": 4730,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "SIDT1",
          "gene_hgnc_id": 25967,
          "hgvs_c": "n.817+309A>T",
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          "transcript": "ENST00000463226.1",
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          "transcript_support_level": 2,
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          "cds_start": -4,
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        {
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          "canonical": false,
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          "strand": true,
          "consequences": [
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          "exon_rank": null,
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          "exon_count": 26,
          "intron_rank": 20,
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          "gene_symbol": "SIDT1",
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          "hgvs_c": "n.2454+309A>T",
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          "transcript": "NR_136280.2",
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        },
        {
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          "gene_symbol": "SIDT1",
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          "hgvs_c": "n.2393+309A>T",
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          "transcript": "NR_136281.2",
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        },
        {
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          "gene_symbol": "SIDT1",
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          "hgvs_c": "n.2237+309A>T",
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        {
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          "intron_rank": 16,
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          "gene_symbol": "SIDT1",
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          "hgvs_c": "n.2144+309A>T",
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          "transcript": "NR_136284.2",
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        {
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          ],
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          "exon_count": 21,
          "intron_rank": 15,
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          "gene_symbol": "SIDT1",
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          "hgvs_c": "n.2007+309A>T",
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          "gene_symbol": "SIDT1",
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        {
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          "intron_rank": 18,
          "intron_rank_end": null,
          "gene_symbol": "SIDT1",
          "gene_hgnc_id": 25967,
          "hgvs_c": "c.1883-711A>T",
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          "transcript": "XM_047448377.1",
          "protein_id": "XP_047304333.1",
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}