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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: 5-37157798-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=37157798&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "5",
      "pos": 37157798,
      "ref": "T",
      "alt": "C",
      "effect": "missense_variant",
      "transcript": "ENST00000651892.2",
      "consequences": [
        {
          "aa_ref": "E",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 40,
          "exon_rank_end": null,
          "exon_count": 53,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CPLANE1",
          "gene_hgnc_id": 25801,
          "hgvs_c": "c.7883A>G",
          "hgvs_p": "p.Glu2628Gly",
          "transcript": "NM_001384732.1",
          "protein_id": "NP_001371661.1",
          "transcript_support_level": null,
          "aa_start": 2628,
          "aa_end": null,
          "aa_length": 3251,
          "cds_start": 7883,
          "cds_end": null,
          "cds_length": 9756,
          "cdna_start": 8062,
          "cdna_end": null,
          "cdna_length": 11302,
          "mane_select": "ENST00000651892.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "G",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 40,
          "exon_rank_end": null,
          "exon_count": 53,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CPLANE1",
          "gene_hgnc_id": 25801,
          "hgvs_c": "c.7883A>G",
          "hgvs_p": "p.Glu2628Gly",
          "transcript": "ENST00000651892.2",
          "protein_id": "ENSP00000498265.2",
          "transcript_support_level": null,
          "aa_start": 2628,
          "aa_end": null,
          "aa_length": 3251,
          "cds_start": 7883,
          "cds_end": null,
          "cds_length": 9756,
          "cdna_start": 8062,
          "cdna_end": null,
          "cdna_length": 11302,
          "mane_select": "NM_001384732.1",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 37,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CPLANE1",
          "gene_hgnc_id": 25801,
          "hgvs_c": "c.5027A>G",
          "hgvs_p": "p.Glu1676Gly",
          "transcript": "ENST00000514429.5",
          "protein_id": "ENSP00000424223.1",
          "transcript_support_level": 1,
          "aa_start": 1676,
          "aa_end": null,
          "aa_length": 2263,
          "cds_start": 5027,
          "cds_end": null,
          "cds_length": 6792,
          "cdna_start": 5027,
          "cdna_end": null,
          "cdna_length": 7416,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 37,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CPLANE1",
          "gene_hgnc_id": 25801,
          "hgvs_c": "n.4895A>G",
          "hgvs_p": null,
          "transcript": "ENST00000509849.5",
          "protein_id": "ENSP00000426337.1",
          "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": 7392,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CPLANE1",
          "gene_hgnc_id": 25801,
          "hgvs_c": "n.125A>G",
          "hgvs_p": null,
          "transcript": "ENST00000509957.5",
          "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": 4282,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 40,
          "exon_rank_end": null,
          "exon_count": 52,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CPLANE1",
          "gene_hgnc_id": 25801,
          "hgvs_c": "c.7829A>G",
          "hgvs_p": "p.Glu2610Gly",
          "transcript": "NM_023073.4",
          "protein_id": "NP_075561.3",
          "transcript_support_level": null,
          "aa_start": 2610,
          "aa_end": null,
          "aa_length": 3197,
          "cds_start": 7829,
          "cds_end": null,
          "cds_length": 9594,
          "cdna_start": 8008,
          "cdna_end": null,
          "cdna_length": 11140,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 39,
          "exon_rank_end": null,
          "exon_count": 51,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CPLANE1",
          "gene_hgnc_id": 25801,
          "hgvs_c": "c.7829A>G",
          "hgvs_p": "p.Glu2610Gly",
          "transcript": "ENST00000508244.5",
          "protein_id": "ENSP00000421690.1",
          "transcript_support_level": 5,
          "aa_start": 2610,
          "aa_end": null,
          "aa_length": 3197,
          "cds_start": 7829,
          "cds_end": null,
          "cds_length": 9594,
          "cdna_start": 7923,
          "cdna_end": null,
          "cdna_length": 11062,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 40,
          "exon_rank_end": null,
          "exon_count": 53,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CPLANE1",
          "gene_hgnc_id": 25801,
          "hgvs_c": "c.7883A>G",
          "hgvs_p": "p.Glu2628Gly",
          "transcript": "XM_011514085.4",
          "protein_id": "XP_011512387.1",
          "transcript_support_level": null,
          "aa_start": 2628,
          "aa_end": null,
          "aa_length": 3251,
          "cds_start": 7883,
          "cds_end": null,
          "cds_length": 9756,
          "cdna_start": 8461,
          "cdna_end": null,
          "cdna_length": 11701,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 40,
          "exon_rank_end": null,
          "exon_count": 53,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CPLANE1",
          "gene_hgnc_id": 25801,
          "hgvs_c": "c.7883A>G",
          "hgvs_p": "p.Glu2628Gly",
          "transcript": "XM_011514086.4",
          "protein_id": "XP_011512388.1",
          "transcript_support_level": null,
          "aa_start": 2628,
          "aa_end": null,
          "aa_length": 3251,
          "cds_start": 7883,
          "cds_end": null,
          "cds_length": 9756,
          "cdna_start": 8105,
          "cdna_end": null,
          "cdna_length": 11345,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 40,
          "exon_rank_end": null,
          "exon_count": 53,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CPLANE1",
          "gene_hgnc_id": 25801,
          "hgvs_c": "c.7880A>G",
          "hgvs_p": "p.Glu2627Gly",
          "transcript": "XM_005248346.5",
          "protein_id": "XP_005248403.1",
          "transcript_support_level": null,
          "aa_start": 2627,
          "aa_end": null,
          "aa_length": 3250,
          "cds_start": 7880,
          "cds_end": null,
          "cds_length": 9753,
          "cdna_start": 8059,
          "cdna_end": null,
          "cdna_length": 11299,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
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        },
        {
          "aa_ref": "E",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 40,
          "exon_rank_end": null,
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          "intron_rank": null,
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          "gene_symbol": "CPLANE1",
          "gene_hgnc_id": 25801,
          "hgvs_c": "c.7880A>G",
          "hgvs_p": "p.Glu2627Gly",
          "transcript": "XM_005248347.5",
          "protein_id": "XP_005248404.1",
          "transcript_support_level": null,
          "aa_start": 2627,
          "aa_end": null,
          "aa_length": 3250,
          "cds_start": 7880,
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          "cds_length": 9753,
          "cdna_start": 8059,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 40,
          "exon_rank_end": null,
          "exon_count": 53,
          "intron_rank": null,
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          "gene_symbol": "CPLANE1",
          "gene_hgnc_id": 25801,
          "hgvs_c": "c.7880A>G",
          "hgvs_p": "p.Glu2627Gly",
          "transcript": "XM_047417541.1",
          "protein_id": "XP_047273497.1",
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          "cds_start": 7880,
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          "mane_select": null,
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        {
          "aa_ref": "E",
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          ],
          "exon_rank": 40,
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          "gene_symbol": "CPLANE1",
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          "hgvs_c": "c.7880A>G",
          "hgvs_p": "p.Glu2627Gly",
          "transcript": "XM_047417542.1",
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        {
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          "intron_rank": null,
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          "gene_symbol": "CPLANE1",
          "gene_hgnc_id": 25801,
          "hgvs_c": "c.7880A>G",
          "hgvs_p": "p.Glu2627Gly",
          "transcript": "XM_047417543.1",
          "protein_id": "XP_047273499.1",
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        {
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        {
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          "strand": false,
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          "gene_symbol": "CPLANE1",
          "gene_hgnc_id": 25801,
          "hgvs_c": "c.7877A>G",
          "hgvs_p": "p.Glu2626Gly",
          "transcript": "XM_006714491.4",
          "protein_id": "XP_006714554.2",
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        {
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          "gene_symbol": "CPLANE1",
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          "hgvs_c": "c.7829A>G",
          "hgvs_p": "p.Glu2610Gly",
          "transcript": "XM_011514087.3",
          "protein_id": "XP_011512389.1",
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        {
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          "exon_count": 53,
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          "gene_symbol": "CPLANE1",
          "gene_hgnc_id": 25801,
          "hgvs_c": "c.7826A>G",
          "hgvs_p": "p.Glu2609Gly",
          "transcript": "XM_047417548.1",
          "protein_id": "XP_047273504.1",
          "transcript_support_level": null,
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        },
        {
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          "consequences": [
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          ],
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}