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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: 2-169636927-A-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=169636927&ref=A&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "2",
      "pos": 169636927,
      "ref": "A",
      "alt": "C",
      "effect": "missense_variant",
      "transcript": "NM_004792.3",
      "consequences": [
        {
          "aa_ref": "S",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPIG",
          "gene_hgnc_id": 14650,
          "hgvs_c": "c.1669A>C",
          "hgvs_p": "p.Ser557Arg",
          "transcript": "NM_004792.3",
          "protein_id": "NP_004783.2",
          "transcript_support_level": null,
          "aa_start": 557,
          "aa_end": null,
          "aa_length": 754,
          "cds_start": 1669,
          "cds_end": null,
          "cds_length": 2265,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000260970.8",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_004792.3"
        },
        {
          "aa_ref": "S",
          "aa_alt": "R",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPIG",
          "gene_hgnc_id": 14650,
          "hgvs_c": "c.1669A>C",
          "hgvs_p": "p.Ser557Arg",
          "transcript": "ENST00000260970.8",
          "protein_id": "ENSP00000260970.3",
          "transcript_support_level": 1,
          "aa_start": 557,
          "aa_end": null,
          "aa_length": 754,
          "cds_start": 1669,
          "cds_end": null,
          "cds_length": 2265,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_004792.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000260970.8"
        },
        {
          "aa_ref": "S",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPIG",
          "gene_hgnc_id": 14650,
          "hgvs_c": "c.1669A>C",
          "hgvs_p": "p.Ser557Arg",
          "transcript": "ENST00000433207.6",
          "protein_id": "ENSP00000408683.2",
          "transcript_support_level": 1,
          "aa_start": 557,
          "aa_end": null,
          "aa_length": 754,
          "cds_start": 1669,
          "cds_end": null,
          "cds_length": 2265,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000433207.6"
        },
        {
          "aa_ref": "S",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPIG",
          "gene_hgnc_id": 14650,
          "hgvs_c": "c.1669A>C",
          "hgvs_p": "p.Ser557Arg",
          "transcript": "ENST00000448752.7",
          "protein_id": "ENSP00000407083.2",
          "transcript_support_level": 1,
          "aa_start": 557,
          "aa_end": null,
          "aa_length": 754,
          "cds_start": 1669,
          "cds_end": null,
          "cds_length": 2265,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000448752.7"
        },
        {
          "aa_ref": "S",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPIG",
          "gene_hgnc_id": 14650,
          "hgvs_c": "c.1624A>C",
          "hgvs_p": "p.Ser542Arg",
          "transcript": "ENST00000409714.7",
          "protein_id": "ENSP00000386245.3",
          "transcript_support_level": 1,
          "aa_start": 542,
          "aa_end": null,
          "aa_length": 739,
          "cds_start": 1624,
          "cds_end": null,
          "cds_length": 2220,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000409714.7"
        },
        {
          "aa_ref": "S",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPIG",
          "gene_hgnc_id": 14650,
          "hgvs_c": "c.1669A>C",
          "hgvs_p": "p.Ser557Arg",
          "transcript": "ENST00000676756.1",
          "protein_id": "ENSP00000503525.1",
          "transcript_support_level": null,
          "aa_start": 557,
          "aa_end": null,
          "aa_length": 754,
          "cds_start": 1669,
          "cds_end": null,
          "cds_length": 2265,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000676756.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPIG",
          "gene_hgnc_id": 14650,
          "hgvs_c": "c.1669A>C",
          "hgvs_p": "p.Ser557Arg",
          "transcript": "ENST00000678499.1",
          "protein_id": "ENSP00000503136.1",
          "transcript_support_level": null,
          "aa_start": 557,
          "aa_end": null,
          "aa_length": 754,
          "cds_start": 1669,
          "cds_end": null,
          "cds_length": 2265,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000678499.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPIG",
          "gene_hgnc_id": 14650,
          "hgvs_c": "c.1669A>C",
          "hgvs_p": "p.Ser557Arg",
          "transcript": "ENST00000679107.1",
          "protein_id": "ENSP00000502997.1",
          "transcript_support_level": null,
          "aa_start": 557,
          "aa_end": null,
          "aa_length": 754,
          "cds_start": 1669,
          "cds_end": null,
          "cds_length": 2265,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000679107.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPIG",
          "gene_hgnc_id": 14650,
          "hgvs_c": "c.1669A>C",
          "hgvs_p": "p.Ser557Arg",
          "transcript": "ENST00000935437.1",
          "protein_id": "ENSP00000605496.1",
          "transcript_support_level": null,
          "aa_start": 557,
          "aa_end": null,
          "aa_length": 754,
          "cds_start": 1669,
          "cds_end": null,
          "cds_length": 2265,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000935437.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPIG",
          "gene_hgnc_id": 14650,
          "hgvs_c": "c.1669A>C",
          "hgvs_p": "p.Ser557Arg",
          "transcript": "ENST00000951877.1",
          "protein_id": "ENSP00000621936.1",
          "transcript_support_level": null,
          "aa_start": 557,
          "aa_end": null,
          "aa_length": 754,
          "cds_start": 1669,
          "cds_end": null,
          "cds_length": 2265,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000951877.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPIG",
          "gene_hgnc_id": 14650,
          "hgvs_c": "c.1666A>C",
          "hgvs_p": "p.Ser556Arg",
          "transcript": "ENST00000935439.1",
          "protein_id": "ENSP00000605498.1",
          "transcript_support_level": null,
          "aa_start": 556,
          "aa_end": null,
          "aa_length": 753,
          "cds_start": 1666,
          "cds_end": null,
          "cds_length": 2262,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000935439.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPIG",
          "gene_hgnc_id": 14650,
          "hgvs_c": "c.1660A>C",
          "hgvs_p": "p.Ser554Arg",
          "transcript": "ENST00000678088.1",
          "protein_id": "ENSP00000504661.1",
          "transcript_support_level": null,
          "aa_start": 554,
          "aa_end": null,
          "aa_length": 751,
          "cds_start": 1660,
          "cds_end": null,
          "cds_length": 2256,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000678088.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPIG",
          "gene_hgnc_id": 14650,
          "hgvs_c": "c.1660A>C",
          "hgvs_p": "p.Ser554Arg",
          "transcript": "ENST00000935438.1",
          "protein_id": "ENSP00000605497.1",
          "transcript_support_level": null,
          "aa_start": 554,
          "aa_end": null,
          "aa_length": 751,
          "cds_start": 1660,
          "cds_end": null,
          "cds_length": 2256,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000935438.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPIG",
          "gene_hgnc_id": 14650,
          "hgvs_c": "c.1660A>C",
          "hgvs_p": "p.Ser554Arg",
          "transcript": "ENST00000951878.1",
          "protein_id": "ENSP00000621937.1",
          "transcript_support_level": null,
          "aa_start": 554,
          "aa_end": null,
          "aa_length": 751,
          "cds_start": 1660,
          "cds_end": null,
          "cds_length": 2256,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000951878.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPIG",
          "gene_hgnc_id": 14650,
          "hgvs_c": "c.1624A>C",
          "hgvs_p": "p.Ser542Arg",
          "transcript": "ENST00000951879.1",
          "protein_id": "ENSP00000621938.1",
          "transcript_support_level": null,
          "aa_start": 542,
          "aa_end": null,
          "aa_length": 739,
          "cds_start": 1624,
          "cds_end": null,
          "cds_length": 2220,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000951879.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPIG",
          "gene_hgnc_id": 14650,
          "hgvs_c": "c.1603A>C",
          "hgvs_p": "p.Ser535Arg",
          "transcript": "ENST00000678638.1",
          "protein_id": "ENSP00000504607.1",
          "transcript_support_level": null,
          "aa_start": 535,
          "aa_end": null,
          "aa_length": 732,
          "cds_start": 1603,
          "cds_end": null,
          "cds_length": 2199,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000678638.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPIG",
          "gene_hgnc_id": 14650,
          "hgvs_c": "c.1603A>C",
          "hgvs_p": "p.Ser535Arg",
          "transcript": "ENST00000898369.1",
          "protein_id": "ENSP00000568428.1",
          "transcript_support_level": null,
          "aa_start": 535,
          "aa_end": null,
          "aa_length": 732,
          "cds_start": 1603,
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          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000898369.1"
        },
        {
          "aa_ref": "S",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
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          ],
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          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPIG",
          "gene_hgnc_id": 14650,
          "hgvs_c": "c.1603A>C",
          "hgvs_p": "p.Ser535Arg",
          "transcript": "ENST00000935436.1",
          "protein_id": "ENSP00000605495.1",
          "transcript_support_level": null,
          "aa_start": 535,
          "aa_end": null,
          "aa_length": 732,
          "cds_start": 1603,
          "cds_end": null,
          "cds_length": 2199,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000935436.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPIG",
          "gene_hgnc_id": 14650,
          "hgvs_c": "c.1603A>C",
          "hgvs_p": "p.Ser535Arg",
          "transcript": "ENST00000951876.1",
          "protein_id": "ENSP00000621935.1",
          "transcript_support_level": null,
          "aa_start": 535,
          "aa_end": null,
          "aa_length": 732,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000951876.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PPIG",
          "gene_hgnc_id": 14650,
          "hgvs_c": "c.1594A>C",
          "hgvs_p": "p.Ser532Arg",
          "transcript": "ENST00000935440.1",
          "protein_id": "ENSP00000605499.1",
          "transcript_support_level": null,
          "aa_start": 532,
          "aa_end": null,
          "aa_length": 729,
          "cds_start": 1594,
          "cds_end": null,
          "cds_length": 2190,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
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          "score": 0,
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            "BP4_Moderate"
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          "verdict": "Uncertain_significance",
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      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
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  "message": null
}