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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: 11-35209596-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=35209596&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "11",
      "pos": 35209596,
      "ref": "G",
      "alt": "A",
      "effect": "intron_variant",
      "transcript": "NM_001440324.1",
      "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": 18,
          "intron_rank": 12,
          "intron_rank_end": null,
          "gene_symbol": "CD44",
          "gene_hgnc_id": 1681,
          "hgvs_c": "c.1517-369G>A",
          "hgvs_p": null,
          "transcript": "NM_000610.4",
          "protein_id": "NP_000601.3",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 742,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2229,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000428726.8",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_000610.4"
        },
        {
          "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": 18,
          "intron_rank": 12,
          "intron_rank_end": null,
          "gene_symbol": "CD44",
          "gene_hgnc_id": 1681,
          "hgvs_c": "c.1517-369G>A",
          "hgvs_p": null,
          "transcript": "ENST00000428726.8",
          "protein_id": "ENSP00000398632.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 742,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2229,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_000610.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000428726.8"
        },
        {
          "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": 11,
          "intron_rank_end": null,
          "gene_symbol": "CD44",
          "gene_hgnc_id": 1681,
          "hgvs_c": "c.1388-369G>A",
          "hgvs_p": null,
          "transcript": "ENST00000415148.6",
          "protein_id": "ENSP00000389830.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 699,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2100,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000415148.6"
        },
        {
          "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": 12,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "CD44",
          "gene_hgnc_id": 1681,
          "hgvs_c": "c.770-369G>A",
          "hgvs_p": null,
          "transcript": "ENST00000433892.6",
          "protein_id": "ENSP00000392331.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 493,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1482,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000433892.6"
        },
        {
          "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": 10,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "CD44",
          "gene_hgnc_id": 1681,
          "hgvs_c": "c.668-1650G>A",
          "hgvs_p": null,
          "transcript": "ENST00000434472.6",
          "protein_id": "ENSP00000404447.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 429,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1290,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000434472.6"
        },
        {
          "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": 9,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "CD44",
          "gene_hgnc_id": 1681,
          "hgvs_c": "c.668-5256G>A",
          "hgvs_p": null,
          "transcript": "ENST00000263398.11",
          "protein_id": "ENSP00000263398.6",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 361,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1086,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000263398.11"
        },
        {
          "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": 8,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "CD44",
          "gene_hgnc_id": 1681,
          "hgvs_c": "c.668-9720G>A",
          "hgvs_p": null,
          "transcript": "ENST00000352818.8",
          "protein_id": "ENSP00000309732.6",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 340,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1023,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000352818.8"
        },
        {
          "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": 9,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "CD44",
          "gene_hgnc_id": 1681,
          "hgvs_c": "c.665-5256G>A",
          "hgvs_p": null,
          "transcript": "ENST00000442151.6",
          "protein_id": "ENSP00000398099.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 293,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 882,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000442151.6"
        },
        {
          "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": 4,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "CD44",
          "gene_hgnc_id": 1681,
          "hgvs_c": "c.234-12109G>A",
          "hgvs_p": null,
          "transcript": "ENST00000278386.10",
          "protein_id": "ENSP00000278386.6",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 139,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 420,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000278386.10"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "CD44",
          "gene_hgnc_id": 1681,
          "hgvs_c": "n.*291-5256G>A",
          "hgvs_p": null,
          "transcript": "ENST00000425428.6",
          "protein_id": "ENSP00000395953.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000425428.6"
        },
        {
          "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": 12,
          "intron_rank_end": null,
          "gene_symbol": "CD44",
          "gene_hgnc_id": 1681,
          "hgvs_c": "c.1520-369G>A",
          "hgvs_p": null,
          "transcript": "NM_001440324.1",
          "protein_id": "NP_001427253.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 743,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2232,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001440324.1"
        },
        {
          "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": 12,
          "intron_rank_end": null,
          "gene_symbol": "CD44",
          "gene_hgnc_id": 1681,
          "hgvs_c": "c.1520-369G>A",
          "hgvs_p": null,
          "transcript": "ENST00000904013.1",
          "protein_id": "ENSP00000574072.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 743,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2232,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000904013.1"
        },
        {
          "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": 12,
          "intron_rank_end": null,
          "gene_symbol": "CD44",
          "gene_hgnc_id": 1681,
          "hgvs_c": "c.1517-369G>A",
          "hgvs_p": null,
          "transcript": "ENST00000969346.1",
          "protein_id": "ENSP00000639405.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 742,
          "cds_start": null,
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          "cdna_start": null,
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          "biotype": "protein_coding",
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        },
        {
          "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": 18,
          "intron_rank": 12,
          "intron_rank_end": null,
          "gene_symbol": "CD44",
          "gene_hgnc_id": 1681,
          "hgvs_c": "c.1514-369G>A",
          "hgvs_p": null,
          "transcript": "NM_001440325.1",
          "protein_id": "NP_001427254.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 741,
          "cds_start": null,
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          "cds_length": 2226,
          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": null,
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          ],
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          "intron_rank_end": null,
          "gene_symbol": "CD44",
          "gene_hgnc_id": 1681,
          "hgvs_c": "c.1514-369G>A",
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          "transcript": "ENST00000969353.1",
          "protein_id": "ENSP00000639412.1",
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          "cdna_start": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000969353.1"
        },
        {
          "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": 18,
          "intron_rank": 12,
          "intron_rank_end": null,
          "gene_symbol": "CD44",
          "gene_hgnc_id": 1681,
          "hgvs_c": "c.1517-369G>A",
          "hgvs_p": null,
          "transcript": "ENST00000969372.1",
          "protein_id": "ENSP00000639431.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 736,
          "cds_start": null,
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          "cds_length": 2211,
          "cdna_start": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000969372.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
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          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": 12,
          "intron_rank_end": null,
          "gene_symbol": "CD44",
          "gene_hgnc_id": 1681,
          "hgvs_c": "c.1427-369G>A",
          "hgvs_p": null,
          "transcript": "NM_001440326.1",
          "protein_id": "NP_001427255.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 712,
          "cds_start": null,
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          "cds_length": 2139,
          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "NM_001440326.1"
        },
        {
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          "protein_coding": true,
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          "consequences": [
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          ],
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          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "CD44",
          "gene_hgnc_id": 1681,
          "hgvs_c": "c.1391-369G>A",
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          "transcript": "NM_001440327.1",
          "protein_id": "NP_001427256.1",
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          "biotype": "protein_coding",
          "feature": "NM_001440327.1"
        },
        {
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          ],
          "exon_rank": null,
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          "exon_count": 17,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "CD44",
          "gene_hgnc_id": 1681,
          "hgvs_c": "c.1391-369G>A",
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          "transcript": "ENST00000904018.1",
          "protein_id": "ENSP00000574077.1",
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          "aa_length": 700,
          "cds_start": null,
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          "cdna_start": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000904018.1"
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "CD44",
          "gene_hgnc_id": 1681,
          "hgvs_c": "c.1388-369G>A",
          "hgvs_p": null,
          "transcript": "NM_001001389.2",
          "protein_id": "NP_001001389.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 699,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2100,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001001389.2"
        },
        {
          "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,
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