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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: 16-71449594-C-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=71449594&ref=C&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "16",
      "pos": 71449594,
      "ref": "C",
      "alt": "A",
      "effect": "missense_variant",
      "transcript": "ENST00000647773.2",
      "consequences": [
        {
          "aa_ref": "G",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF23",
          "gene_hgnc_id": 13023,
          "hgvs_c": "c.560G>T",
          "hgvs_p": "p.Gly187Val",
          "transcript": "NM_001381984.1",
          "protein_id": "NP_001368913.1",
          "transcript_support_level": null,
          "aa_start": 187,
          "aa_end": null,
          "aa_length": 686,
          "cds_start": 560,
          "cds_end": null,
          "cds_length": 2061,
          "cdna_start": 630,
          "cdna_end": null,
          "cdna_length": 2627,
          "mane_select": "ENST00000647773.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "V",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF23",
          "gene_hgnc_id": 13023,
          "hgvs_c": "c.560G>T",
          "hgvs_p": "p.Gly187Val",
          "transcript": "ENST00000647773.2",
          "protein_id": "ENSP00000497736.2",
          "transcript_support_level": null,
          "aa_start": 187,
          "aa_end": null,
          "aa_length": 686,
          "cds_start": 560,
          "cds_end": null,
          "cds_length": 2061,
          "cdna_start": 630,
          "cdna_end": null,
          "cdna_length": 2627,
          "mane_select": "NM_001381984.1",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF23",
          "gene_hgnc_id": 13023,
          "hgvs_c": "c.431G>T",
          "hgvs_p": "p.Gly144Val",
          "transcript": "ENST00000393539.6",
          "protein_id": "ENSP00000377171.2",
          "transcript_support_level": 1,
          "aa_start": 144,
          "aa_end": null,
          "aa_length": 643,
          "cds_start": 431,
          "cds_end": null,
          "cds_length": 1932,
          "cdna_start": 1245,
          "cdna_end": null,
          "cdna_length": 3242,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF23",
          "gene_hgnc_id": 13023,
          "hgvs_c": "c.431G>T",
          "hgvs_p": "p.Gly144Val",
          "transcript": "ENST00000428724.5",
          "protein_id": "ENSP00000387673.3",
          "transcript_support_level": 1,
          "aa_start": 144,
          "aa_end": null,
          "aa_length": 643,
          "cds_start": 431,
          "cds_end": null,
          "cds_length": 1932,
          "cdna_start": 431,
          "cdna_end": null,
          "cdna_length": 1932,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000261611",
          "gene_hgnc_id": null,
          "hgvs_c": "n.*895G>T",
          "hgvs_p": null,
          "transcript": "ENST00000561908.1",
          "protein_id": "ENSP00000463741.1",
          "transcript_support_level": 2,
          "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": 3677,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000261611",
          "gene_hgnc_id": null,
          "hgvs_c": "n.*895G>T",
          "hgvs_p": null,
          "transcript": "ENST00000561908.1",
          "protein_id": "ENSP00000463741.1",
          "transcript_support_level": 2,
          "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": 3677,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF23",
          "gene_hgnc_id": 13023,
          "hgvs_c": "c.548G>T",
          "hgvs_p": "p.Gly183Val",
          "transcript": "NM_001381973.1",
          "protein_id": "NP_001368902.1",
          "transcript_support_level": null,
          "aa_start": 183,
          "aa_end": null,
          "aa_length": 682,
          "cds_start": 548,
          "cds_end": null,
          "cds_length": 2049,
          "cdna_start": 1247,
          "cdna_end": null,
          "cdna_length": 3244,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF23",
          "gene_hgnc_id": 13023,
          "hgvs_c": "c.548G>T",
          "hgvs_p": "p.Gly183Val",
          "transcript": "NM_001381974.1",
          "protein_id": "NP_001368903.1",
          "transcript_support_level": null,
          "aa_start": 183,
          "aa_end": null,
          "aa_length": 682,
          "cds_start": 548,
          "cds_end": null,
          "cds_length": 2049,
          "cdna_start": 1231,
          "cdna_end": null,
          "cdna_length": 3228,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF23",
          "gene_hgnc_id": 13023,
          "hgvs_c": "c.545G>T",
          "hgvs_p": "p.Gly182Val",
          "transcript": "NM_001381980.1",
          "protein_id": "NP_001368909.1",
          "transcript_support_level": null,
          "aa_start": 182,
          "aa_end": null,
          "aa_length": 681,
          "cds_start": 545,
          "cds_end": null,
          "cds_length": 2046,
          "cdna_start": 1228,
          "cdna_end": null,
          "cdna_length": 3225,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF23",
          "gene_hgnc_id": 13023,
          "hgvs_c": "c.443G>T",
          "hgvs_p": "p.Gly148Val",
          "transcript": "NM_001381981.1",
          "protein_id": "NP_001368910.1",
          "transcript_support_level": null,
          "aa_start": 148,
          "aa_end": null,
          "aa_length": 647,
          "cds_start": 443,
          "cds_end": null,
          "cds_length": 1944,
          "cdna_start": 689,
          "cdna_end": null,
          "cdna_length": 2686,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF23",
          "gene_hgnc_id": 13023,
          "hgvs_c": "c.434G>T",
          "hgvs_p": "p.Gly145Val",
          "transcript": "NM_001381975.1",
          "protein_id": "NP_001368904.1",
          "transcript_support_level": null,
          "aa_start": 145,
          "aa_end": null,
          "aa_length": 644,
          "cds_start": 434,
          "cds_end": null,
          "cds_length": 1935,
          "cdna_start": 1247,
          "cdna_end": null,
          "cdna_length": 3244,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF23",
          "gene_hgnc_id": 13023,
          "hgvs_c": "c.434G>T",
          "hgvs_p": "p.Gly145Val",
          "transcript": "NM_001381976.1",
          "protein_id": "NP_001368905.1",
          "transcript_support_level": null,
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          "aa_end": null,
          "aa_length": 644,
          "cds_start": 434,
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          "cds_length": 1935,
          "cdna_start": 1315,
          "cdna_end": null,
          "cdna_length": 3312,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF23",
          "gene_hgnc_id": 13023,
          "hgvs_c": "c.434G>T",
          "hgvs_p": "p.Gly145Val",
          "transcript": "NM_001381977.1",
          "protein_id": "NP_001368906.1",
          "transcript_support_level": null,
          "aa_start": 145,
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          "aa_length": 644,
          "cds_start": 434,
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          "cds_length": 1935,
          "cdna_start": 1346,
          "cdna_end": null,
          "cdna_length": 3343,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
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          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF23",
          "gene_hgnc_id": 13023,
          "hgvs_c": "c.434G>T",
          "hgvs_p": "p.Gly145Val",
          "transcript": "NM_001381978.1",
          "protein_id": "NP_001368907.1",
          "transcript_support_level": null,
          "aa_start": 145,
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          "aa_length": 644,
          "cds_start": 434,
          "cds_end": null,
          "cds_length": 1935,
          "cdna_start": 1251,
          "cdna_end": null,
          "cdna_length": 3248,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
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          "exon_count": 6,
          "intron_rank": null,
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          "gene_symbol": "ZNF23",
          "gene_hgnc_id": 13023,
          "hgvs_c": "c.434G>T",
          "hgvs_p": "p.Gly145Val",
          "transcript": "NM_001381979.1",
          "protein_id": "NP_001368908.1",
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          "cdna_start": 1083,
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF23",
          "gene_hgnc_id": 13023,
          "hgvs_c": "c.431G>T",
          "hgvs_p": "p.Gly144Val",
          "transcript": "NM_001304492.2",
          "protein_id": "NP_001291421.1",
          "transcript_support_level": null,
          "aa_start": 144,
          "aa_end": null,
          "aa_length": 643,
          "cds_start": 431,
          "cds_end": null,
          "cds_length": 1932,
          "cdna_start": 677,
          "cdna_end": null,
          "cdna_length": 2674,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF23",
          "gene_hgnc_id": 13023,
          "hgvs_c": "c.431G>T",
          "hgvs_p": "p.Gly144Val",
          "transcript": "NM_001381965.1",
          "protein_id": "NP_001368894.1",
          "transcript_support_level": null,
          "aa_start": 144,
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          "cds_start": 431,
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          "cdna_start": 1343,
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          "cdna_length": 3340,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
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          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF23",
          "gene_hgnc_id": 13023,
          "hgvs_c": "c.431G>T",
          "hgvs_p": "p.Gly144Val",
          "transcript": "NM_001381966.1",
          "protein_id": "NP_001368895.1",
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          "cdna_start": 1228,
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        },
        {
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          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
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          "gene_symbol": "ZNF23",
          "gene_hgnc_id": 13023,
          "hgvs_c": "c.431G>T",
          "hgvs_p": "p.Gly144Val",
          "transcript": "NM_145911.3",
          "protein_id": "NP_666016.1",
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF23",
          "gene_hgnc_id": 13023,
          "hgvs_c": "c.431G>T",
          "hgvs_p": "p.Gly144Val",
          "transcript": "ENST00000357254.8",
          "protein_id": "ENSP00000349796.4",
          "transcript_support_level": 2,
          "aa_start": 144,
          "aa_end": null,
          "aa_length": 643,
          "cds_start": 431,
          "cds_end": null,
          "cds_length": 1932,
          "cdna_start": 1189,
          "cdna_end": null,
          "cdna_length": 3186,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF23",
          "gene_hgnc_id": 13023,
          "hgvs_c": "c.257G>T",
          "hgvs_p": "p.Gly86Val",
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      "clinvar_disease": "",
      "clinvar_classification": "",
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      "clinvar_submissions_summary": "",
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      "custom_annotations": null
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}