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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: 22-31103532-A-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=31103532&ref=A&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "22",
      "pos": 31103532,
      "ref": "A",
      "alt": "G",
      "effect": "intron_variant",
      "transcript": "ENST00000333137.12",
      "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": 21,
          "intron_rank": 20,
          "intron_rank_end": null,
          "gene_symbol": "SMTN",
          "gene_hgnc_id": 11126,
          "hgvs_c": "c.*21-784A>G",
          "hgvs_p": null,
          "transcript": "NM_134269.3",
          "protein_id": "NP_599031.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 915,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2748,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3296,
          "mane_select": "ENST00000333137.12",
          "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": 21,
          "intron_rank": 20,
          "intron_rank_end": null,
          "gene_symbol": "SMTN",
          "gene_hgnc_id": 11126,
          "hgvs_c": "c.*21-784A>G",
          "hgvs_p": null,
          "transcript": "ENST00000333137.12",
          "protein_id": "ENSP00000329532.7",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 915,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2748,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3296,
          "mane_select": "NM_134269.3",
          "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": 20,
          "intron_rank": 19,
          "intron_rank_end": null,
          "gene_symbol": "SMTN",
          "gene_hgnc_id": 11126,
          "hgvs_c": "c.2604-784A>G",
          "hgvs_p": null,
          "transcript": "ENST00000347557.6",
          "protein_id": "ENSP00000328635.5",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 917,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2754,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3130,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SMTN",
          "gene_hgnc_id": 11126,
          "hgvs_c": "n.1383A>G",
          "hgvs_p": null,
          "transcript": "ENST00000504335.1",
          "protein_id": null,
          "transcript_support_level": 2,
          "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": 2608,
          "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": 23,
          "intron_rank": 22,
          "intron_rank_end": null,
          "gene_symbol": "SMTN",
          "gene_hgnc_id": 11126,
          "hgvs_c": "c.*21-784A>G",
          "hgvs_p": null,
          "transcript": "NM_001382642.1",
          "protein_id": "NP_001369571.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1009,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3030,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3623,
          "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": 21,
          "intron_rank": 20,
          "intron_rank_end": null,
          "gene_symbol": "SMTN",
          "gene_hgnc_id": 11126,
          "hgvs_c": "c.2859-784A>G",
          "hgvs_p": null,
          "transcript": "NM_001207017.1",
          "protein_id": "NP_001193946.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1002,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3009,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3228,
          "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": 21,
          "intron_rank": 20,
          "intron_rank_end": null,
          "gene_symbol": "SMTN",
          "gene_hgnc_id": 11126,
          "hgvs_c": "c.2859-784A>G",
          "hgvs_p": null,
          "transcript": "ENST00000619644.5",
          "protein_id": "ENSP00000484398.1",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1002,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3009,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3009,
          "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": 19,
          "intron_rank_end": null,
          "gene_symbol": "SMTN",
          "gene_hgnc_id": 11126,
          "hgvs_c": "c.*21-784A>G",
          "hgvs_p": null,
          "transcript": "NM_001207018.2",
          "protein_id": "NP_001193947.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 971,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2916,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3322,
          "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": 19,
          "intron_rank_end": null,
          "gene_symbol": "SMTN",
          "gene_hgnc_id": 11126,
          "hgvs_c": "c.*21-784A>G",
          "hgvs_p": null,
          "transcript": "ENST00000612341.4",
          "protein_id": "ENSP00000479578.1",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 971,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2916,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3321,
          "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": 23,
          "intron_rank_end": null,
          "gene_symbol": "SMTN",
          "gene_hgnc_id": 11126,
          "hgvs_c": "c.*21-784A>G",
          "hgvs_p": null,
          "transcript": "NM_001382643.1",
          "protein_id": "NP_001369572.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 969,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2910,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3513,
          "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": 22,
          "intron_rank": 21,
          "intron_rank_end": null,
          "gene_symbol": "SMTN",
          "gene_hgnc_id": 11126,
          "hgvs_c": "c.*21-784A>G",
          "hgvs_p": null,
          "transcript": "NM_001382644.1",
          "protein_id": "NP_001369573.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 969,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2910,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3383,
          "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": 22,
          "intron_rank": 21,
          "intron_rank_end": null,
          "gene_symbol": "SMTN",
          "gene_hgnc_id": 11126,
          "hgvs_c": "c.*21-784A>G",
          "hgvs_p": null,
          "transcript": "ENST00000440425.6",
          "protein_id": "ENSP00000401341.2",
          "transcript_support_level": 4,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 968,
          "cds_start": -4,
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          "cds_length": 2907,
          "cdna_start": null,
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          "cdna_length": 3322,
          "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": 23,
          "intron_rank": 22,
          "intron_rank_end": null,
          "gene_symbol": "SMTN",
          "gene_hgnc_id": 11126,
          "hgvs_c": "c.*21-784A>G",
          "hgvs_p": null,
          "transcript": "NM_001382645.1",
          "protein_id": "NP_001369574.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 946,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2841,
          "cdna_start": null,
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          "cdna_length": 3625,
          "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": 21,
          "intron_rank": 20,
          "intron_rank_end": null,
          "gene_symbol": "SMTN",
          "gene_hgnc_id": 11126,
          "hgvs_c": "c.2673-784A>G",
          "hgvs_p": null,
          "transcript": "NM_134270.3",
          "protein_id": "NP_599032.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 940,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2823,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3200,
          "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": 21,
          "intron_rank": 20,
          "intron_rank_end": null,
          "gene_symbol": "SMTN",
          "gene_hgnc_id": 11126,
          "hgvs_c": "c.2673-784A>G",
          "hgvs_p": null,
          "transcript": "ENST00000358743.5",
          "protein_id": "ENSP00000351593.1",
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          "aa_start": null,
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          "aa_length": 940,
          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 3198,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 20,
          "intron_rank": 19,
          "intron_rank_end": null,
          "gene_symbol": "SMTN",
          "gene_hgnc_id": 11126,
          "hgvs_c": "c.2604-784A>G",
          "hgvs_p": null,
          "transcript": "NM_006932.5",
          "protein_id": "NP_008863.3",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 917,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2754,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3131,
          "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,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": 22,
          "intron_rank_end": null,
          "gene_symbol": "SMTN",
          "gene_hgnc_id": 11126,
          "hgvs_c": "c.*21-784A>G",
          "hgvs_p": null,
          "transcript": "NM_001382638.1",
          "protein_id": "NP_001369567.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 915,
          "cds_start": -4,
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          "cds_length": 2748,
          "cdna_start": null,
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          "cdna_length": 3426,
          "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": 23,
          "intron_rank": 22,
          "intron_rank_end": null,
          "gene_symbol": "SMTN",
          "gene_hgnc_id": 11126,
          "hgvs_c": "c.*21-784A>G",
          "hgvs_p": null,
          "transcript": "NM_001382639.1",
          "protein_id": "NP_001369568.1",
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          "cdna_start": null,
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          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 21,
          "intron_rank": 20,
          "intron_rank_end": null,
          "gene_symbol": "SMTN",
          "gene_hgnc_id": 11126,
          "hgvs_c": "c.*21-784A>G",
          "hgvs_p": null,
          "transcript": "NM_001382640.1",
          "protein_id": "NP_001369569.1",
          "transcript_support_level": null,
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          "cdna_start": null,
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 22,
          "intron_rank": 21,
          "intron_rank_end": null,
          "gene_symbol": "SMTN",
          "gene_hgnc_id": 11126,
          "hgvs_c": "c.*21-784A>G",
          "hgvs_p": null,
          "transcript": "NM_001382641.1",
          "protein_id": "NP_001369570.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 915,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2748,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3532,
          "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": 19,
          "intron_rank_end": null,
          "gene_symbol": "SMTN",
          "gene_hgnc_id": 11126,
          "hgvs_c": "c.*38-784A>G",
          "hgvs_p": null,
          "transcript": "NM_001382646.1",
          "protein_id": "NP_001369575.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 870,
          "cds_start": -4,
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