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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: 6-109825099-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=109825099&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "6",
      "pos": 109825099,
      "ref": "C",
      "alt": "T",
      "effect": "missense_variant",
      "transcript": "ENST00000230124.8",
      "consequences": [
        {
          "aa_ref": "S",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FIG4",
          "gene_hgnc_id": 16873,
          "hgvs_c": "c.2558C>T",
          "hgvs_p": "p.Ser853Leu",
          "transcript": "NM_014845.6",
          "protein_id": "NP_055660.1",
          "transcript_support_level": null,
          "aa_start": 853,
          "aa_end": null,
          "aa_length": 907,
          "cds_start": 2558,
          "cds_end": null,
          "cds_length": 2724,
          "cdna_start": 2698,
          "cdna_end": null,
          "cdna_length": 3025,
          "mane_select": "ENST00000230124.8",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "L",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FIG4",
          "gene_hgnc_id": 16873,
          "hgvs_c": "c.2558C>T",
          "hgvs_p": "p.Ser853Leu",
          "transcript": "ENST00000230124.8",
          "protein_id": "ENSP00000230124.4",
          "transcript_support_level": 1,
          "aa_start": 853,
          "aa_end": null,
          "aa_length": 907,
          "cds_start": 2558,
          "cds_end": null,
          "cds_length": 2724,
          "cdna_start": 2698,
          "cdna_end": null,
          "cdna_length": 3025,
          "mane_select": "NM_014845.6",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FIG4",
          "gene_hgnc_id": 16873,
          "hgvs_c": "c.2576C>T",
          "hgvs_p": "p.Ser859Leu",
          "transcript": "ENST00000674884.1",
          "protein_id": "ENSP00000502668.1",
          "transcript_support_level": null,
          "aa_start": 859,
          "aa_end": null,
          "aa_length": 913,
          "cds_start": 2576,
          "cds_end": null,
          "cds_length": 2742,
          "cdna_start": 2697,
          "cdna_end": null,
          "cdna_length": 3003,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FIG4",
          "gene_hgnc_id": 16873,
          "hgvs_c": "c.2552C>T",
          "hgvs_p": "p.Ser851Leu",
          "transcript": "ENST00000674744.1",
          "protein_id": "ENSP00000501661.1",
          "transcript_support_level": null,
          "aa_start": 851,
          "aa_end": null,
          "aa_length": 905,
          "cds_start": 2552,
          "cds_end": null,
          "cds_length": 2718,
          "cdna_start": 2707,
          "cdna_end": null,
          "cdna_length": 2999,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FIG4",
          "gene_hgnc_id": 16873,
          "hgvs_c": "c.2471C>T",
          "hgvs_p": "p.Ser824Leu",
          "transcript": "ENST00000675726.1",
          "protein_id": "ENSP00000502452.1",
          "transcript_support_level": null,
          "aa_start": 824,
          "aa_end": null,
          "aa_length": 878,
          "cds_start": 2471,
          "cds_end": null,
          "cds_length": 2637,
          "cdna_start": 2658,
          "cdna_end": null,
          "cdna_length": 2966,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FIG4",
          "gene_hgnc_id": 16873,
          "hgvs_c": "c.2429C>T",
          "hgvs_p": "p.Ser810Leu",
          "transcript": "ENST00000676442.1",
          "protein_id": "ENSP00000502595.1",
          "transcript_support_level": null,
          "aa_start": 810,
          "aa_end": null,
          "aa_length": 864,
          "cds_start": 2429,
          "cds_end": null,
          "cds_length": 2595,
          "cdna_start": 2600,
          "cdna_end": null,
          "cdna_length": 2915,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FIG4",
          "gene_hgnc_id": 16873,
          "hgvs_c": "c.2351C>T",
          "hgvs_p": "p.Ser784Leu",
          "transcript": "ENST00000675096.1",
          "protein_id": "ENSP00000502116.1",
          "transcript_support_level": null,
          "aa_start": 784,
          "aa_end": null,
          "aa_length": 838,
          "cds_start": 2351,
          "cds_end": null,
          "cds_length": 2517,
          "cdna_start": 2475,
          "cdna_end": null,
          "cdna_length": 2715,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FIG4",
          "gene_hgnc_id": 16873,
          "hgvs_c": "c.2327C>T",
          "hgvs_p": "p.Ser776Leu",
          "transcript": "ENST00000675523.1",
          "protein_id": "ENSP00000502384.1",
          "transcript_support_level": null,
          "aa_start": 776,
          "aa_end": null,
          "aa_length": 830,
          "cds_start": 2327,
          "cds_end": null,
          "cds_length": 2493,
          "cdna_start": 2706,
          "cdna_end": null,
          "cdna_length": 3033,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FIG4",
          "gene_hgnc_id": 16873,
          "hgvs_c": "c.2240C>T",
          "hgvs_p": "p.Ser747Leu",
          "transcript": "ENST00000674933.1",
          "protein_id": "ENSP00000502376.1",
          "transcript_support_level": null,
          "aa_start": 747,
          "aa_end": null,
          "aa_length": 801,
          "cds_start": 2240,
          "cds_end": null,
          "cds_length": 2406,
          "cdna_start": 2640,
          "cdna_end": null,
          "cdna_length": 2912,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FIG4",
          "gene_hgnc_id": 16873,
          "hgvs_c": "c.2213C>T",
          "hgvs_p": "p.Ser738Leu",
          "transcript": "ENST00000674641.1",
          "protein_id": "ENSP00000501609.1",
          "transcript_support_level": null,
          "aa_start": 738,
          "aa_end": null,
          "aa_length": 792,
          "cds_start": 2213,
          "cds_end": null,
          "cds_length": 2379,
          "cdna_start": 2475,
          "cdna_end": null,
          "cdna_length": 2786,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FIG4",
          "gene_hgnc_id": 16873,
          "hgvs_c": "c.2165C>T",
          "hgvs_p": "p.Ser722Leu",
          "transcript": "ENST00000675831.1",
          "protein_id": "ENSP00000502382.1",
          "transcript_support_level": null,
          "aa_start": 722,
          "aa_end": null,
          "aa_length": 776,
          "cds_start": 2165,
          "cds_end": null,
          "cds_length": 2331,
          "cdna_start": 2288,
          "cdna_end": null,
          "cdna_length": 2501,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "L",
          "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": "FIG4",
          "gene_hgnc_id": 16873,
          "hgvs_c": "c.1064C>T",
          "hgvs_p": "p.Ser355Leu",
          "transcript": "ENST00000415980.2",
          "protein_id": "ENSP00000405660.2",
          "transcript_support_level": 3,
          "aa_start": 355,
          "aa_end": null,
          "aa_length": 409,
          "cds_start": 1064,
          "cds_end": null,
          "cds_length": 1230,
          "cdna_start": 1472,
          "cdna_end": null,
          "cdna_length": 1712,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FIG4",
          "gene_hgnc_id": 16873,
          "hgvs_c": "c.2495C>T",
          "hgvs_p": "p.Ser832Leu",
          "transcript": "XM_011536281.4",
          "protein_id": "XP_011534583.1",
          "transcript_support_level": null,
          "aa_start": 832,
          "aa_end": null,
          "aa_length": 886,
          "cds_start": 2495,
          "cds_end": null,
          "cds_length": 2661,
          "cdna_start": 3313,
          "cdna_end": null,
          "cdna_length": 3640,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FIG4",
          "gene_hgnc_id": 16873,
          "hgvs_c": "n.5754C>T",
          "hgvs_p": null,
          "transcript": "ENST00000674532.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 6030,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FIG4",
          "gene_hgnc_id": 16873,
          "hgvs_c": "n.*1851C>T",
          "hgvs_p": null,
          "transcript": "ENST00000674557.1",
          "protein_id": "ENSP00000501608.1",
          "transcript_support_level": null,
          "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": 2688,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FIG4",
          "gene_hgnc_id": 16873,
          "hgvs_c": "n.*1677C>T",
          "hgvs_p": null,
          "transcript": "ENST00000674569.1",
          "protein_id": "ENSP00000502769.1",
          "transcript_support_level": null,
          "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": 2781,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FIG4",
          "gene_hgnc_id": 16873,
          "hgvs_c": "n.*1702C>T",
          "hgvs_p": null,
          "transcript": "ENST00000674571.1",
          "protein_id": "ENSP00000501633.1",
          "transcript_support_level": null,
          "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": 2778,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FIG4",
          "gene_hgnc_id": 16873,
          "hgvs_c": "n.990C>T",
          "hgvs_p": null,
          "transcript": "ENST00000674573.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 1203,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FIG4",
          "gene_hgnc_id": 16873,
          "hgvs_c": "n.*1677C>T",
          "hgvs_p": null,
          "transcript": "ENST00000674575.1",
          "protein_id": "ENSP00000502276.1",
          "transcript_support_level": null,
          "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": 2685,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FIG4",
          "gene_hgnc_id": 16873,
          "hgvs_c": "n.*2251C>T",
          "hgvs_p": null,
          "transcript": "ENST00000674649.1",
          "protein_id": "ENSP00000501669.1",
          "transcript_support_level": null,
          "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": 2811,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FIG4",
          "gene_hgnc_id": 16873,
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          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": 22,
          "intron_rank_end": null,
          "gene_symbol": "FIG4",
          "gene_hgnc_id": 16873,
          "hgvs_c": "c.2546+28248C>T",
          "hgvs_p": null,
          "transcript": "ENST00000675772.1",
          "protein_id": "ENSP00000501678.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 864,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2595,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2963,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "FIG4",
      "gene_hgnc_id": 16873,
      "dbsnp": "rs774805375",
      "frequency_reference_population": 0.000017972192,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 29,
      "gnomad_exomes_af": 0.0000184751,
      "gnomad_genomes_af": 0.0000131428,
      "gnomad_exomes_ac": 27,
      "gnomad_genomes_ac": 2,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.7855761647224426,
      "computational_prediction_selected": "Pathogenic",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0.009999999776482582,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.199,
      "revel_prediction": "Benign",
      "alphamissense_score": 0.4162,
      "alphamissense_prediction": "Uncertain_significance",
      "bayesdelnoaf_score": 0,
      "bayesdelnoaf_prediction": "Uncertain_significance",
      "phylop100way_score": 6.19,
      "phylop100way_prediction": "Uncertain_significance",
      "spliceai_max_score": 0.01,
      "spliceai_max_prediction": "Benign",
      "dbscsnv_ada_score": null,
      "dbscsnv_ada_prediction": null,
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": 1,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PP3",
      "acmg_by_gene": [
        {
          "score": 1,
          "benign_score": 0,
          "pathogenic_score": 1,
          "criteria": [
            "PP3"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "ENST00000230124.8",
          "gene_symbol": "FIG4",
          "hgnc_id": 16873,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AR,Unknown,AD",
          "hgvs_c": "c.2558C>T",
          "hgvs_p": "p.Ser853Leu"
        }
      ],
      "clinvar_disease": "Amyotrophic lateral sclerosis type 11,Charcot-Marie-Tooth disease type 4,not provided",
      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
      "clinvar_submissions_summary": "US:3",
      "phenotype_combined": "Amyotrophic lateral sclerosis type 11|Charcot-Marie-Tooth disease type 4|not provided",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
    }
  ],
  "message": null
}