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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: 19-37344773-C-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=37344773&ref=C&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "19",
      "pos": 37344773,
      "ref": "C",
      "alt": "A",
      "effect": "missense_variant,splice_region_variant",
      "transcript": "NM_181786.4",
      "consequences": [
        {
          "aa_ref": "T",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF875",
          "gene_hgnc_id": 4928,
          "hgvs_c": "c.89C>A",
          "hgvs_p": "p.Thr30Lys",
          "transcript": "ENST00000324411.8",
          "protein_id": "ENSP00000315505.3",
          "transcript_support_level": 1,
          "aa_start": 30,
          "aa_end": null,
          "aa_length": 659,
          "cds_start": 89,
          "cds_end": null,
          "cds_length": 1980,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000324411.8"
        },
        {
          "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": 5,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ZNF875",
          "gene_hgnc_id": 4928,
          "hgvs_c": "c.34-2417C>A",
          "hgvs_p": null,
          "transcript": "NM_001353803.2",
          "protein_id": "NP_001340732.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 640,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1923,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000392153.8",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001353803.2"
        },
        {
          "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": 5,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ZNF875",
          "gene_hgnc_id": 4928,
          "hgvs_c": "c.34-2417C>A",
          "hgvs_p": null,
          "transcript": "ENST00000392153.8",
          "protein_id": "ENSP00000375994.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 640,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1923,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001353803.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000392153.8"
        },
        {
          "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": 5,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ZNF875",
          "gene_hgnc_id": 4928,
          "hgvs_c": "c.34-2417C>A",
          "hgvs_p": null,
          "transcript": "ENST00000591259.5",
          "protein_id": "ENSP00000466472.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 171,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 516,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000591259.5"
        },
        {
          "aa_ref": "T",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF875",
          "gene_hgnc_id": 4928,
          "hgvs_c": "c.89C>A",
          "hgvs_p": "p.Thr30Lys",
          "transcript": "ENST00000589801.1",
          "protein_id": "ENSP00000468528.1",
          "transcript_support_level": 3,
          "aa_start": 30,
          "aa_end": null,
          "aa_length": 36,
          "cds_start": 89,
          "cds_end": null,
          "cds_length": 113,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000589801.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF875",
          "gene_hgnc_id": 4928,
          "hgvs_c": "c.89C>A",
          "hgvs_p": "p.Thr30Lys",
          "transcript": "NM_181786.4",
          "protein_id": "NP_861451.1",
          "transcript_support_level": null,
          "aa_start": 30,
          "aa_end": null,
          "aa_length": 659,
          "cds_start": 89,
          "cds_end": null,
          "cds_length": 1980,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_181786.4"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF875",
          "gene_hgnc_id": 4928,
          "hgvs_c": "c.-2510C>A",
          "hgvs_p": null,
          "transcript": "XM_047438689.1",
          "protein_id": "XP_047294645.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 599,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1800,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047438689.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF875",
          "gene_hgnc_id": 4928,
          "hgvs_c": "c.-1109C>A",
          "hgvs_p": null,
          "transcript": "XM_047438690.1",
          "protein_id": "XP_047294646.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 599,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1800,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047438690.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF875",
          "gene_hgnc_id": 4928,
          "hgvs_c": "c.-412C>A",
          "hgvs_p": null,
          "transcript": "XM_047438691.1",
          "protein_id": "XP_047294647.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 599,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1800,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047438691.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF875",
          "gene_hgnc_id": 4928,
          "hgvs_c": "c.-342C>A",
          "hgvs_p": null,
          "transcript": "XM_047438692.1",
          "protein_id": "XP_047294648.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 599,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1800,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ZNF875",
          "gene_hgnc_id": 4928,
          "hgvs_c": "c.34-2417C>A",
          "hgvs_p": null,
          "transcript": "NM_001329761.2",
          "protein_id": "NP_001316690.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 641,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1926,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001329761.2"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 5,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ZNF875",
          "gene_hgnc_id": 4928,
          "hgvs_c": "c.34-2417C>A",
          "hgvs_p": null,
          "transcript": "NM_001329762.2",
          "protein_id": "NP_001316691.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": null,
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          "cds_length": 1926,
          "cdna_start": null,
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          "biotype": "protein_coding",
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        },
        {
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          "gene_symbol": "ZNF875",
          "gene_hgnc_id": 4928,
          "hgvs_c": "c.34-2417C>A",
          "hgvs_p": null,
          "transcript": "ENST00000589392.5",
          "protein_id": "ENSP00000467562.1",
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          "cds_start": null,
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          "biotype": "protein_coding",
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        },
        {
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          "canonical": false,
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          "consequences": [
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          "exon_count": 5,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ZNF875",
          "gene_hgnc_id": 4928,
          "hgvs_c": "c.34-2417C>A",
          "hgvs_p": null,
          "transcript": "ENST00000862311.1",
          "protein_id": "ENSP00000532370.1",
          "transcript_support_level": null,
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        {
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          "exon_count": 5,
          "intron_rank": 2,
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          "gene_symbol": "ZNF875",
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          "hgvs_c": "c.34-2417C>A",
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          "transcript": "ENST00000970698.1",
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          "cdna_start": null,
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          "gene_symbol": "ZNF875",
          "gene_hgnc_id": 4928,
          "hgvs_c": "c.34-2417C>A",
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          "transcript": "NM_001329763.2",
          "protein_id": "NP_001316692.1",
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        {
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          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 4,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ZNF875",
          "gene_hgnc_id": 4928,
          "hgvs_c": "c.34-2417C>A",
          "hgvs_p": null,
          "transcript": "ENST00000862312.1",
          "protein_id": "ENSP00000532371.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 640,
          "cds_start": null,
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          "cds_length": 1923,
          "cdna_start": null,
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          "cdna_length": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000862312.1"
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
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      "custom_annotations": null
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  "message": null
}