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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: 11-792004-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=792004&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "11",
      "pos": 792004,
      "ref": "T",
      "alt": "C",
      "effect": "missense_variant",
      "transcript": "NM_001425334.1",
      "consequences": [
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC25A22",
          "gene_hgnc_id": 19954,
          "hgvs_c": "c.883A>G",
          "hgvs_p": "p.Ile295Val",
          "transcript": "NM_001191061.2",
          "protein_id": "NP_001177990.1",
          "transcript_support_level": null,
          "aa_start": 295,
          "aa_end": null,
          "aa_length": 323,
          "cds_start": 883,
          "cds_end": null,
          "cds_length": 972,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000628067.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001191061.2"
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC25A22",
          "gene_hgnc_id": 19954,
          "hgvs_c": "c.883A>G",
          "hgvs_p": "p.Ile295Val",
          "transcript": "ENST00000628067.3",
          "protein_id": "ENSP00000486058.1",
          "transcript_support_level": 1,
          "aa_start": 295,
          "aa_end": null,
          "aa_length": 323,
          "cds_start": 883,
          "cds_end": null,
          "cds_length": 972,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001191061.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000628067.3"
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC25A22",
          "gene_hgnc_id": 19954,
          "hgvs_c": "c.883A>G",
          "hgvs_p": "p.Ile295Val",
          "transcript": "ENST00000320230.9",
          "protein_id": "ENSP00000322020.5",
          "transcript_support_level": 1,
          "aa_start": 295,
          "aa_end": null,
          "aa_length": 323,
          "cds_start": 883,
          "cds_end": null,
          "cds_length": 972,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000320230.9"
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC25A22",
          "gene_hgnc_id": 19954,
          "hgvs_c": "c.958A>G",
          "hgvs_p": "p.Ile320Val",
          "transcript": "NM_001425334.1",
          "protein_id": "NP_001412263.1",
          "transcript_support_level": null,
          "aa_start": 320,
          "aa_end": null,
          "aa_length": 348,
          "cds_start": 958,
          "cds_end": null,
          "cds_length": 1047,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001425334.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC25A22",
          "gene_hgnc_id": 19954,
          "hgvs_c": "c.958A>G",
          "hgvs_p": "p.Ile320Val",
          "transcript": "ENST00000860087.1",
          "protein_id": "ENSP00000530146.1",
          "transcript_support_level": null,
          "aa_start": 320,
          "aa_end": null,
          "aa_length": 348,
          "cds_start": 958,
          "cds_end": null,
          "cds_length": 1047,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000860087.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC25A22",
          "gene_hgnc_id": 19954,
          "hgvs_c": "c.922A>G",
          "hgvs_p": "p.Ile308Val",
          "transcript": "NM_001425335.1",
          "protein_id": "NP_001412264.1",
          "transcript_support_level": null,
          "aa_start": 308,
          "aa_end": null,
          "aa_length": 336,
          "cds_start": 922,
          "cds_end": null,
          "cds_length": 1011,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001425335.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC25A22",
          "gene_hgnc_id": 19954,
          "hgvs_c": "c.898A>G",
          "hgvs_p": "p.Ile300Val",
          "transcript": "NM_001425336.1",
          "protein_id": "NP_001412265.1",
          "transcript_support_level": null,
          "aa_start": 300,
          "aa_end": null,
          "aa_length": 328,
          "cds_start": 898,
          "cds_end": null,
          "cds_length": 987,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001425336.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC25A22",
          "gene_hgnc_id": 19954,
          "hgvs_c": "c.895A>G",
          "hgvs_p": "p.Ile299Val",
          "transcript": "ENST00000948531.1",
          "protein_id": "ENSP00000618590.1",
          "transcript_support_level": null,
          "aa_start": 299,
          "aa_end": null,
          "aa_length": 327,
          "cds_start": 895,
          "cds_end": null,
          "cds_length": 984,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000948531.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC25A22",
          "gene_hgnc_id": 19954,
          "hgvs_c": "c.883A>G",
          "hgvs_p": "p.Ile295Val",
          "transcript": "NM_001191060.2",
          "protein_id": "NP_001177989.1",
          "transcript_support_level": null,
          "aa_start": 295,
          "aa_end": null,
          "aa_length": 323,
          "cds_start": 883,
          "cds_end": null,
          "cds_length": 972,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001191060.2"
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC25A22",
          "gene_hgnc_id": 19954,
          "hgvs_c": "c.883A>G",
          "hgvs_p": "p.Ile295Val",
          "transcript": "NM_001425337.1",
          "protein_id": "NP_001412266.1",
          "transcript_support_level": null,
          "aa_start": 295,
          "aa_end": null,
          "aa_length": 323,
          "cds_start": 883,
          "cds_end": null,
          "cds_length": 972,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001425337.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC25A22",
          "gene_hgnc_id": 19954,
          "hgvs_c": "c.883A>G",
          "hgvs_p": "p.Ile295Val",
          "transcript": "NM_001425338.1",
          "protein_id": "NP_001412267.1",
          "transcript_support_level": null,
          "aa_start": 295,
          "aa_end": null,
          "aa_length": 323,
          "cds_start": 883,
          "cds_end": null,
          "cds_length": 972,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001425338.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC25A22",
          "gene_hgnc_id": 19954,
          "hgvs_c": "c.883A>G",
          "hgvs_p": "p.Ile295Val",
          "transcript": "NM_001425339.1",
          "protein_id": "NP_001412268.1",
          "transcript_support_level": null,
          "aa_start": 295,
          "aa_end": null,
          "aa_length": 323,
          "cds_start": 883,
          "cds_end": null,
          "cds_length": 972,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001425339.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC25A22",
          "gene_hgnc_id": 19954,
          "hgvs_c": "c.883A>G",
          "hgvs_p": "p.Ile295Val",
          "transcript": "NM_024698.6",
          "protein_id": "NP_078974.1",
          "transcript_support_level": null,
          "aa_start": 295,
          "aa_end": null,
          "aa_length": 323,
          "cds_start": 883,
          "cds_end": null,
          "cds_length": 972,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_024698.6"
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC25A22",
          "gene_hgnc_id": 19954,
          "hgvs_c": "c.883A>G",
          "hgvs_p": "p.Ile295Val",
          "transcript": "ENST00000531214.5",
          "protein_id": "ENSP00000437236.1",
          "transcript_support_level": 2,
          "aa_start": 295,
          "aa_end": null,
          "aa_length": 323,
          "cds_start": 883,
          "cds_end": null,
          "cds_length": 972,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000531214.5"
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC25A22",
          "gene_hgnc_id": 19954,
          "hgvs_c": "c.883A>G",
          "hgvs_p": "p.Ile295Val",
          "transcript": "ENST00000860084.1",
          "protein_id": "ENSP00000530143.1",
          "transcript_support_level": null,
          "aa_start": 295,
          "aa_end": null,
          "aa_length": 323,
          "cds_start": 883,
          "cds_end": null,
          "cds_length": 972,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000860084.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC25A22",
          "gene_hgnc_id": 19954,
          "hgvs_c": "c.883A>G",
          "hgvs_p": "p.Ile295Val",
          "transcript": "ENST00000860086.1",
          "protein_id": "ENSP00000530145.1",
          "transcript_support_level": null,
          "aa_start": 295,
          "aa_end": null,
          "aa_length": 323,
          "cds_start": 883,
          "cds_end": null,
          "cds_length": 972,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000860086.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC25A22",
          "gene_hgnc_id": 19954,
          "hgvs_c": "c.883A>G",
          "hgvs_p": "p.Ile295Val",
          "transcript": "ENST00000860088.1",
          "protein_id": "ENSP00000530147.1",
          "transcript_support_level": null,
          "aa_start": 295,
          "aa_end": null,
          "aa_length": 323,
          "cds_start": 883,
          "cds_end": null,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000860088.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC25A22",
          "gene_hgnc_id": 19954,
          "hgvs_c": "c.883A>G",
          "hgvs_p": "p.Ile295Val",
          "transcript": "ENST00000860089.1",
          "protein_id": "ENSP00000530148.1",
          "transcript_support_level": null,
          "aa_start": 295,
          "aa_end": null,
          "aa_length": 323,
          "cds_start": 883,
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          "cds_length": 972,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000860089.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC25A22",
          "gene_hgnc_id": 19954,
          "hgvs_c": "c.883A>G",
          "hgvs_p": "p.Ile295Val",
          "transcript": "ENST00000860091.1",
          "protein_id": "ENSP00000530150.1",
          "transcript_support_level": null,
          "aa_start": 295,
          "aa_end": null,
          "aa_length": 323,
          "cds_start": 883,
          "cds_end": null,
          "cds_length": 972,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000860091.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC25A22",
          "gene_hgnc_id": 19954,
          "hgvs_c": "c.883A>G",
          "hgvs_p": "p.Ile295Val",
          "transcript": "ENST00000860092.1",
          "protein_id": "ENSP00000530151.1",
          "transcript_support_level": null,
          "aa_start": 295,
          "aa_end": null,
          "aa_length": 323,
          "cds_start": 883,
          "cds_end": null,
          "cds_length": 972,
          "cdna_start": null,
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