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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: 2-207565659-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=207565659&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "2",
      "pos": 207565659,
      "ref": "C",
      "alt": "T",
      "effect": "intron_variant",
      "transcript": "ENST00000353267.8",
      "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": 8,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "CREB1",
          "gene_hgnc_id": 2345,
          "hgvs_c": "c.262-1804C>T",
          "hgvs_p": null,
          "transcript": "NM_004379.5",
          "protein_id": "NP_004370.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 327,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 984,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 10095,
          "mane_select": "ENST00000353267.8",
          "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": 8,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "CREB1",
          "gene_hgnc_id": 2345,
          "hgvs_c": "c.262-1804C>T",
          "hgvs_p": null,
          "transcript": "ENST00000353267.8",
          "protein_id": "ENSP00000236995.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 327,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 984,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 10095,
          "mane_select": "NM_004379.5",
          "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": 9,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "CREB1",
          "gene_hgnc_id": 2345,
          "hgvs_c": "c.304-1804C>T",
          "hgvs_p": null,
          "transcript": "ENST00000432329.6",
          "protein_id": "ENSP00000387699.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 341,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1026,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7650,
          "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": 9,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "CREB1",
          "gene_hgnc_id": 2345,
          "hgvs_c": "c.304-1804C>T",
          "hgvs_p": null,
          "transcript": "NM_001371426.1",
          "protein_id": "NP_001358355.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 341,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1026,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 10021,
          "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": 9,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "CREB1",
          "gene_hgnc_id": 2345,
          "hgvs_c": "c.304-1804C>T",
          "hgvs_p": null,
          "transcript": "NM_134442.5",
          "protein_id": "NP_604391.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 341,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1026,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 10137,
          "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": 8,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "CREB1",
          "gene_hgnc_id": 2345,
          "hgvs_c": "c.262-1804C>T",
          "hgvs_p": null,
          "transcript": "NM_001371427.1",
          "protein_id": "NP_001358356.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 327,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 984,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 9979,
          "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": 8,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "CREB1",
          "gene_hgnc_id": 2345,
          "hgvs_c": "c.262-1804C>T",
          "hgvs_p": null,
          "transcript": "ENST00000430624.5",
          "protein_id": "ENSP00000405539.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 327,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 984,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2005,
          "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": 7,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "CREB1",
          "gene_hgnc_id": 2345,
          "hgvs_c": "c.142-1804C>T",
          "hgvs_p": null,
          "transcript": "NM_001371428.1",
          "protein_id": "NP_001358357.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 287,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 864,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 9934,
          "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": 7,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "CREB1",
          "gene_hgnc_id": 2345,
          "hgvs_c": "c.142-1804C>T",
          "hgvs_p": null,
          "transcript": "ENST00000448277.5",
          "protein_id": "ENSP00000405711.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 250,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 755,
          "cdna_start": null,
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          "cdna_length": 829,
          "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": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "CREB1",
          "gene_hgnc_id": 2345,
          "hgvs_c": "c.262-1804C>T",
          "hgvs_p": null,
          "transcript": "NM_001320793.2",
          "protein_id": "NP_001307722.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 234,
          "cds_start": -4,
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          "cds_length": 705,
          "cdna_start": null,
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          "cdna_length": 1164,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": true,
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          "consequences": [
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          "exon_count": 6,
          "intron_rank": 4,
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          "gene_symbol": "CREB1",
          "gene_hgnc_id": 2345,
          "hgvs_c": "c.304-1804C>T",
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          "transcript": "ENST00000445803.5",
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          "transcript_support_level": 4,
          "aa_start": null,
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          "aa_length": 181,
          "cds_start": -4,
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          "cdna_start": null,
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          "mane_select": null,
          "mane_plus": null,
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        {
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          "canonical": false,
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          "consequences": [
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          "intron_rank": 2,
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          "gene_symbol": "CREB1",
          "gene_hgnc_id": 2345,
          "hgvs_c": "c.142-1804C>T",
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          "transcript": "ENST00000421139.5",
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        {
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          "gene_symbol": "CREB1",
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          "hgvs_c": "c.304-1804C>T",
          "hgvs_p": null,
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          "cds_start": -4,
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        {
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          "gene_symbol": "CREB1",
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          "hgvs_c": "c.184-1804C>T",
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          "transcript": "ENST00000457101.5",
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        {
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          "gene_symbol": "CREB1",
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          "hgvs_c": "n.233-1804C>T",
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          "transcript": "ENST00000464407.1",
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          "gene_symbol": "CREB1",
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          "hgvs_c": "n.282-1804C>T",
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          ],
          "exon_rank": null,
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          "gene_symbol": "CREB1",
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          "gene_symbol": "CREB1",
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          ],
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          "exon_count": 9,
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          "gene_symbol": "CREB1",
          "gene_hgnc_id": 2345,
          "hgvs_c": "n.327-1804C>T",
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          "transcript": "NR_163947.1",
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