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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: 6-109825100-G-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=109825100&ref=G&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "6",
      "pos": 109825100,
      "ref": "G",
      "alt": "T",
      "effect": "synonymous_variant",
      "transcript": "NM_014845.6",
      "consequences": [
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_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.2559G>T",
          "hgvs_p": "p.Ser853Ser",
          "transcript": "NM_014845.6",
          "protein_id": "NP_055660.1",
          "transcript_support_level": null,
          "aa_start": 853,
          "aa_end": null,
          "aa_length": 907,
          "cds_start": 2559,
          "cds_end": null,
          "cds_length": 2724,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000230124.8",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_014845.6"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_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.2559G>T",
          "hgvs_p": "p.Ser853Ser",
          "transcript": "ENST00000230124.8",
          "protein_id": "ENSP00000230124.4",
          "transcript_support_level": 1,
          "aa_start": 853,
          "aa_end": null,
          "aa_length": 907,
          "cds_start": 2559,
          "cds_end": null,
          "cds_length": 2724,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_014845.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000230124.8"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_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.2577G>T",
          "hgvs_p": "p.Ser859Ser",
          "transcript": "ENST00000674884.1",
          "protein_id": "ENSP00000502668.1",
          "transcript_support_level": null,
          "aa_start": 859,
          "aa_end": null,
          "aa_length": 913,
          "cds_start": 2577,
          "cds_end": null,
          "cds_length": 2742,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000674884.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_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.2553G>T",
          "hgvs_p": "p.Ser851Ser",
          "transcript": "ENST00000674744.1",
          "protein_id": "ENSP00000501661.1",
          "transcript_support_level": null,
          "aa_start": 851,
          "aa_end": null,
          "aa_length": 905,
          "cds_start": 2553,
          "cds_end": null,
          "cds_length": 2718,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000674744.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_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.2472G>T",
          "hgvs_p": "p.Ser824Ser",
          "transcript": "ENST00000675726.1",
          "protein_id": "ENSP00000502452.1",
          "transcript_support_level": null,
          "aa_start": 824,
          "aa_end": null,
          "aa_length": 878,
          "cds_start": 2472,
          "cds_end": null,
          "cds_length": 2637,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000675726.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_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.2430G>T",
          "hgvs_p": "p.Ser810Ser",
          "transcript": "ENST00000676442.1",
          "protein_id": "ENSP00000502595.1",
          "transcript_support_level": null,
          "aa_start": 810,
          "aa_end": null,
          "aa_length": 864,
          "cds_start": 2430,
          "cds_end": null,
          "cds_length": 2595,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000676442.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_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.2352G>T",
          "hgvs_p": "p.Ser784Ser",
          "transcript": "ENST00000675096.1",
          "protein_id": "ENSP00000502116.1",
          "transcript_support_level": null,
          "aa_start": 784,
          "aa_end": null,
          "aa_length": 838,
          "cds_start": 2352,
          "cds_end": null,
          "cds_length": 2517,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000675096.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_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.2343G>T",
          "hgvs_p": "p.Ser781Ser",
          "transcript": "ENST00000922531.1",
          "protein_id": "ENSP00000592590.1",
          "transcript_support_level": null,
          "aa_start": 781,
          "aa_end": null,
          "aa_length": 835,
          "cds_start": 2343,
          "cds_end": null,
          "cds_length": 2508,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000922531.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_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.2328G>T",
          "hgvs_p": "p.Ser776Ser",
          "transcript": "ENST00000675523.1",
          "protein_id": "ENSP00000502384.1",
          "transcript_support_level": null,
          "aa_start": 776,
          "aa_end": null,
          "aa_length": 830,
          "cds_start": 2328,
          "cds_end": null,
          "cds_length": 2493,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000675523.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_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.2241G>T",
          "hgvs_p": "p.Ser747Ser",
          "transcript": "ENST00000674933.1",
          "protein_id": "ENSP00000502376.1",
          "transcript_support_level": null,
          "aa_start": 747,
          "aa_end": null,
          "aa_length": 801,
          "cds_start": 2241,
          "cds_end": null,
          "cds_length": 2406,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000674933.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_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.2214G>T",
          "hgvs_p": "p.Ser738Ser",
          "transcript": "ENST00000674641.1",
          "protein_id": "ENSP00000501609.1",
          "transcript_support_level": null,
          "aa_start": 738,
          "aa_end": null,
          "aa_length": 792,
          "cds_start": 2214,
          "cds_end": null,
          "cds_length": 2379,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000674641.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_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.2166G>T",
          "hgvs_p": "p.Ser722Ser",
          "transcript": "ENST00000675831.1",
          "protein_id": "ENSP00000502382.1",
          "transcript_support_level": null,
          "aa_start": 722,
          "aa_end": null,
          "aa_length": 776,
          "cds_start": 2166,
          "cds_end": null,
          "cds_length": 2331,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000675831.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_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.1065G>T",
          "hgvs_p": "p.Ser355Ser",
          "transcript": "ENST00000415980.2",
          "protein_id": "ENSP00000405660.2",
          "transcript_support_level": 3,
          "aa_start": 355,
          "aa_end": null,
          "aa_length": 409,
          "cds_start": 1065,
          "cds_end": null,
          "cds_length": 1230,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000415980.2"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_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.2496G>T",
          "hgvs_p": "p.Ser832Ser",
          "transcript": "XM_011536281.4",
          "protein_id": "XP_011534583.1",
          "transcript_support_level": null,
          "aa_start": 832,
          "aa_end": null,
          "aa_length": 886,
          "cds_start": 2496,
          "cds_end": null,
          "cds_length": 2661,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_011536281.4"
        },
        {
          "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": 23,
          "intron_rank": 22,
          "intron_rank_end": null,
          "gene_symbol": "FIG4",
          "gene_hgnc_id": 16873,
          "hgvs_c": "c.2546+28249G>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": null,
          "cds_end": null,
          "cds_length": 2595,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000675772.1"
        },
        {
          "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.5755G>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": 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": "ENST00000674532.1"
        },
        {
          "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.*1852G>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": 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": "ENST00000674557.1"
        },
        {
          "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.*1678G>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": 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": "ENST00000674569.1"
        },
        {
          "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.*1703G>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": 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": "ENST00000674571.1"
        },
        {
          "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.991G>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": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
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          "biotype": "nonsense_mediated_decay",
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      ],
      "gene_symbol": "FIG4",
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      "dbsnp": "rs1127771",
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      "hom_count_reference_population": 0,
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      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.7900000214576721,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0.019999999552965164,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
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      "revel_prediction": null,
      "alphamissense_score": null,
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      "bayesdelnoaf_score": -0.79,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -2.65,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0.02,
      "spliceai_max_prediction": "Benign",
      "dbscsnv_ada_score": null,
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      "apogee2_score": null,
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      "mitotip_score": null,
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      "acmg_score": -3,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "PM2,BP4_Strong,BP7",
      "acmg_by_gene": [
        {
          "score": -3,
          "benign_score": 5,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Strong",
            "BP7"
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          "verdict": "Likely_benign",
          "transcript": "NM_014845.6",
          "gene_symbol": "FIG4",
          "hgnc_id": 16873,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "AR,AD,Unknown",
          "hgvs_c": "c.2559G>T",
          "hgvs_p": "p.Ser853Ser"
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}
For research and educational, non-commercial use only. Not for clinical or diagnostic use. GeneBe does not provide medical advice. Data use for AI modeling is prohibited: if used, the cost is $0.001 per byte of downloaded uncompressed data.