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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: 22-19180775-C-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=19180775&ref=C&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "22",
      "pos": 19180775,
      "ref": "C",
      "alt": "G",
      "effect": "missense_variant",
      "transcript": "NM_007098.4",
      "consequences": [
        {
          "aa_ref": "R",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 31,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLTCL1",
          "gene_hgnc_id": 2093,
          "hgvs_c": "c.4859G>C",
          "hgvs_p": "p.Arg1620Pro",
          "transcript": "NM_007098.4",
          "protein_id": "NP_009029.3",
          "transcript_support_level": null,
          "aa_start": 1620,
          "aa_end": null,
          "aa_length": 1640,
          "cds_start": 4859,
          "cds_end": null,
          "cds_length": 4923,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000427926.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_007098.4"
        },
        {
          "aa_ref": "R",
          "aa_alt": "P",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 31,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLTCL1",
          "gene_hgnc_id": 2093,
          "hgvs_c": "c.4859G>C",
          "hgvs_p": "p.Arg1620Pro",
          "transcript": "ENST00000427926.6",
          "protein_id": "ENSP00000441158.1",
          "transcript_support_level": 1,
          "aa_start": 1620,
          "aa_end": null,
          "aa_length": 1640,
          "cds_start": 4859,
          "cds_end": null,
          "cds_length": 4923,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_007098.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000427926.6"
        },
        {
          "aa_ref": "R",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLTCL1",
          "gene_hgnc_id": 2093,
          "hgvs_c": "c.4688G>C",
          "hgvs_p": "p.Arg1563Pro",
          "transcript": "ENST00000621271.4",
          "protein_id": "ENSP00000485020.1",
          "transcript_support_level": 1,
          "aa_start": 1563,
          "aa_end": null,
          "aa_length": 1583,
          "cds_start": 4688,
          "cds_end": null,
          "cds_length": 4752,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000621271.4"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLTCL1",
          "gene_hgnc_id": 2093,
          "hgvs_c": "n.4952G>C",
          "hgvs_p": null,
          "transcript": "ENST00000615606.4",
          "protein_id": null,
          "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": "retained_intron",
          "feature": "ENST00000615606.4"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 31,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLTCL1",
          "gene_hgnc_id": 2093,
          "hgvs_c": "n.*1014G>C",
          "hgvs_p": null,
          "transcript": "ENST00000617103.4",
          "protein_id": "ENSP00000480709.1",
          "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": "ENST00000617103.4"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 31,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLTCL1",
          "gene_hgnc_id": 2093,
          "hgvs_c": "n.*1014G>C",
          "hgvs_p": null,
          "transcript": "ENST00000617103.4",
          "protein_id": "ENSP00000480709.1",
          "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": "ENST00000617103.4"
        },
        {
          "aa_ref": "R",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 31,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLTCL1",
          "gene_hgnc_id": 2093,
          "hgvs_c": "c.4859G>C",
          "hgvs_p": "p.Arg1620Pro",
          "transcript": "ENST00000965499.1",
          "protein_id": "ENSP00000635558.1",
          "transcript_support_level": null,
          "aa_start": 1620,
          "aa_end": null,
          "aa_length": 1640,
          "cds_start": 4859,
          "cds_end": null,
          "cds_length": 4923,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000965499.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 31,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLTCL1",
          "gene_hgnc_id": 2093,
          "hgvs_c": "c.4835G>C",
          "hgvs_p": "p.Arg1612Pro",
          "transcript": "ENST00000897134.1",
          "protein_id": "ENSP00000567193.1",
          "transcript_support_level": null,
          "aa_start": 1612,
          "aa_end": null,
          "aa_length": 1632,
          "cds_start": 4835,
          "cds_end": null,
          "cds_length": 4899,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000897134.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 31,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLTCL1",
          "gene_hgnc_id": 2093,
          "hgvs_c": "c.4799G>C",
          "hgvs_p": "p.Arg1600Pro",
          "transcript": "ENST00000965503.1",
          "protein_id": "ENSP00000635562.1",
          "transcript_support_level": null,
          "aa_start": 1600,
          "aa_end": null,
          "aa_length": 1620,
          "cds_start": 4799,
          "cds_end": null,
          "cds_length": 4863,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000965503.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLTCL1",
          "gene_hgnc_id": 2093,
          "hgvs_c": "c.4751G>C",
          "hgvs_p": "p.Arg1584Pro",
          "transcript": "ENST00000965502.1",
          "protein_id": "ENSP00000635561.1",
          "transcript_support_level": null,
          "aa_start": 1584,
          "aa_end": null,
          "aa_length": 1604,
          "cds_start": 4751,
          "cds_end": null,
          "cds_length": 4815,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000965502.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLTCL1",
          "gene_hgnc_id": 2093,
          "hgvs_c": "c.4745G>C",
          "hgvs_p": "p.Arg1582Pro",
          "transcript": "ENST00000897132.1",
          "protein_id": "ENSP00000567191.1",
          "transcript_support_level": null,
          "aa_start": 1582,
          "aa_end": null,
          "aa_length": 1602,
          "cds_start": 4745,
          "cds_end": null,
          "cds_length": 4809,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000897132.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 31,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLTCL1",
          "gene_hgnc_id": 2093,
          "hgvs_c": "c.4706G>C",
          "hgvs_p": "p.Arg1569Pro",
          "transcript": "ENST00000932470.1",
          "protein_id": "ENSP00000602529.1",
          "transcript_support_level": null,
          "aa_start": 1569,
          "aa_end": null,
          "aa_length": 1589,
          "cds_start": 4706,
          "cds_end": null,
          "cds_length": 4770,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000932470.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLTCL1",
          "gene_hgnc_id": 2093,
          "hgvs_c": "c.4694G>C",
          "hgvs_p": "p.Arg1565Pro",
          "transcript": "ENST00000965514.1",
          "protein_id": "ENSP00000635573.1",
          "transcript_support_level": null,
          "aa_start": 1565,
          "aa_end": null,
          "aa_length": 1585,
          "cds_start": 4694,
          "cds_end": null,
          "cds_length": 4758,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000965514.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLTCL1",
          "gene_hgnc_id": 2093,
          "hgvs_c": "c.4691G>C",
          "hgvs_p": "p.Arg1564Pro",
          "transcript": "ENST00000932468.1",
          "protein_id": "ENSP00000602527.1",
          "transcript_support_level": null,
          "aa_start": 1564,
          "aa_end": null,
          "aa_length": 1584,
          "cds_start": 4691,
          "cds_end": null,
          "cds_length": 4755,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000932468.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLTCL1",
          "gene_hgnc_id": 2093,
          "hgvs_c": "c.4688G>C",
          "hgvs_p": "p.Arg1563Pro",
          "transcript": "NM_001835.4",
          "protein_id": "NP_001826.3",
          "transcript_support_level": null,
          "aa_start": 1563,
          "aa_end": null,
          "aa_length": 1583,
          "cds_start": 4688,
          "cds_end": null,
          "cds_length": 4752,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001835.4"
        },
        {
          "aa_ref": "R",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLTCL1",
          "gene_hgnc_id": 2093,
          "hgvs_c": "c.4688G>C",
          "hgvs_p": "p.Arg1563Pro",
          "transcript": "ENST00000965511.1",
          "protein_id": "ENSP00000635570.1",
          "transcript_support_level": null,
          "aa_start": 1563,
          "aa_end": null,
          "aa_length": 1583,
          "cds_start": 4688,
          "cds_end": null,
          "cds_length": 4752,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000965511.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLTCL1",
          "gene_hgnc_id": 2093,
          "hgvs_c": "c.4685G>C",
          "hgvs_p": "p.Arg1562Pro",
          "transcript": "ENST00000932469.1",
          "protein_id": "ENSP00000602528.1",
          "transcript_support_level": null,
          "aa_start": 1562,
          "aa_end": null,
          "aa_length": 1582,
          "cds_start": 4685,
          "cds_end": null,
          "cds_length": 4749,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000932469.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLTCL1",
          "gene_hgnc_id": 2093,
          "hgvs_c": "c.4685G>C",
          "hgvs_p": "p.Arg1562Pro",
          "transcript": "ENST00000965515.1",
          "protein_id": "ENSP00000635574.1",
          "transcript_support_level": null,
          "aa_start": 1562,
          "aa_end": null,
          "aa_length": 1582,
          "cds_start": 4685,
          "cds_end": null,
          "cds_length": 4749,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000965515.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLTCL1",
          "gene_hgnc_id": 2093,
          "hgvs_c": "c.4664G>C",
          "hgvs_p": "p.Arg1555Pro",
          "transcript": "ENST00000897133.1",
          "protein_id": "ENSP00000567192.1",
          "transcript_support_level": null,
          "aa_start": 1555,
          "aa_end": null,
          "aa_length": 1575,
          "cds_start": 4664,
          "cds_end": null,
          "cds_length": 4728,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000897133.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 31,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CLTCL1",
          "gene_hgnc_id": 2093,
          "hgvs_c": "c.4646G>C",
          "hgvs_p": "p.Arg1549Pro",
          "transcript": "ENST00000965496.1",
          "protein_id": "ENSP00000635555.1",
          "transcript_support_level": null,
          "aa_start": 1549,
          "aa_end": null,
          "aa_length": 1569,
          "cds_start": 4646,
          "cds_end": null,
          "cds_length": 4710,
          "cdna_start": null,
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      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
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      "pathogenicity_classification_combined": null,
      "custom_annotations": null
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  "message": null
}