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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: 3-64695029-C-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=64695029&ref=C&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "3",
      "pos": 64695029,
      "ref": "C",
      "alt": "A",
      "effect": "intron_variant",
      "transcript": "ENST00000460833.2",
      "consequences": [
        {
          "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": 2,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ADAMTS9-AS2",
          "gene_hgnc_id": 42435,
          "hgvs_c": "n.460+9691C>A",
          "hgvs_p": null,
          "transcript": "ENST00000460833.2",
          "protein_id": null,
          "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": 3721,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 6,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ADAMTS9-AS2",
          "gene_hgnc_id": 42435,
          "hgvs_c": "n.225+9691C>A",
          "hgvs_p": null,
          "transcript": "ENST00000481312.2",
          "protein_id": null,
          "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": 1984,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 5,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ADAMTS9-AS2",
          "gene_hgnc_id": 42435,
          "hgvs_c": "n.235+9691C>A",
          "hgvs_p": null,
          "transcript": "ENST00000474768.5",
          "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": 2388,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 3,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ADAMTS9-AS2",
          "gene_hgnc_id": 42435,
          "hgvs_c": "n.235+9691C>A",
          "hgvs_p": null,
          "transcript": "ENST00000485174.5",
          "protein_id": null,
          "transcript_support_level": 4,
          "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": 573,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 12,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ADAMTS9-AS2",
          "gene_hgnc_id": 42435,
          "hgvs_c": "n.404+9691C>A",
          "hgvs_p": null,
          "transcript": "ENST00000650103.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 2261,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 6,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ADAMTS9-AS2",
          "gene_hgnc_id": 42435,
          "hgvs_c": "n.259+9691C>A",
          "hgvs_p": null,
          "transcript": "ENST00000691998.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 2146,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 1,
          "intron_rank_end": null,
          "gene_symbol": "ADAMTS9-AS2",
          "gene_hgnc_id": 42435,
          "hgvs_c": "n.418+9691C>A",
          "hgvs_p": null,
          "transcript": "ENST00000692372.2",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 2930,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 5,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ADAMTS9-AS2",
          "gene_hgnc_id": 42435,
          "hgvs_c": "n.400+9691C>A",
          "hgvs_p": null,
          "transcript": "ENST00000702102.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 3154,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 5,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ADAMTS9-AS2",
          "gene_hgnc_id": 42435,
          "hgvs_c": "n.424+9691C>A",
          "hgvs_p": null,
          "transcript": "ENST00000702331.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 2123,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 9,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ADAMTS9-AS2",
          "gene_hgnc_id": 42435,
          "hgvs_c": "n.430+9691C>A",
          "hgvs_p": null,
          "transcript": "ENST00000770413.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 1955,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 6,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ADAMTS9-AS2",
          "gene_hgnc_id": 42435,
          "hgvs_c": "n.401+9691C>A",
          "hgvs_p": null,
          "transcript": "ENST00000770414.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": null,
          "cds_start": -4,
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          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 1415,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 7,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ADAMTS9-AS2",
          "gene_hgnc_id": 42435,
          "hgvs_c": "n.383+9691C>A",
          "hgvs_p": null,
          "transcript": "ENST00000770415.1",
          "protein_id": null,
          "transcript_support_level": null,
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          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 2317,
          "mane_select": null,
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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": 5,
          "intron_rank": 1,
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          "gene_symbol": "ADAMTS9-AS2",
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          "hgvs_c": "n.222+9691C>A",
          "hgvs_p": null,
          "transcript": "ENST00000770416.1",
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          "cdna_length": 1260,
          "mane_select": null,
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        {
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          "strand": true,
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          ],
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          "exon_count": 5,
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          "hgvs_c": "n.235+9691C>A",
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          "transcript": "ENST00000770417.1",
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          "cdna_length": 741,
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        {
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          "strand": true,
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          ],
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          "intron_rank": 1,
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          "gene_symbol": "ADAMTS9-AS2",
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          "hgvs_c": "n.205+9691C>A",
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          "transcript": "ENST00000770418.1",
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          "intron_rank": 1,
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          "gene_symbol": "ADAMTS9-AS2",
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          "hgvs_c": "n.224+9255C>A",
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          "transcript": "ENST00000770419.1",
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        },
        {
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          "consequences": [
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          ],
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          "intron_rank": 1,
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          "gene_symbol": "ADAMTS9-AS2",
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          "hgvs_c": "n.231+9691C>A",
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          "transcript": "ENST00000770420.1",
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        {
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          "consequences": [
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          ],
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          "exon_count": 6,
          "intron_rank": 1,
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          "gene_symbol": "ADAMTS9-AS2",
          "gene_hgnc_id": 42435,
          "hgvs_c": "n.235+9691C>A",
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          "gene_symbol": "ADAMTS9-AS2",
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          "gene_symbol": "ADAMTS9-AS2",
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        },
        {
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          "consequences": [
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          ],
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          "exon_count": 4,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ADAMTS9-AS2",
          "gene_hgnc_id": 42435,
          "hgvs_c": "n.457+9691C>A",
          "hgvs_p": null,
          "transcript": "ENST00000770424.1",
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        {
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}