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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: 17-50548182-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=50548182&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "17",
      "pos": 50548182,
      "ref": "G",
      "alt": "A",
      "effect": "intron_variant",
      "transcript": "ENST00000006658.11",
      "consequences": [
        {
          "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": 17,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "SPATA20",
          "gene_hgnc_id": 26125,
          "hgvs_c": "c.126-101G>A",
          "hgvs_p": null,
          "transcript": "NM_022827.4",
          "protein_id": "NP_073738.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 802,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2409,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2634,
          "mane_select": "ENST00000006658.11",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 17,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "SPATA20",
          "gene_hgnc_id": 26125,
          "hgvs_c": "c.126-101G>A",
          "hgvs_p": null,
          "transcript": "ENST00000006658.11",
          "protein_id": "ENSP00000006658.6",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 802,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2409,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2634,
          "mane_select": "NM_022827.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 16,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "SPATA20",
          "gene_hgnc_id": 26125,
          "hgvs_c": "c.78-101G>A",
          "hgvs_p": null,
          "transcript": "ENST00000356488.8",
          "protein_id": "ENSP00000348878.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 786,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2361,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2634,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "SPATA20",
          "gene_hgnc_id": 26125,
          "hgvs_c": "n.*49-101G>A",
          "hgvs_p": null,
          "transcript": "ENST00000503127.5",
          "protein_id": "ENSP00000426228.1",
          "transcript_support_level": 1,
          "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": 2734,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "SPATA20",
          "gene_hgnc_id": 26125,
          "hgvs_c": "n.77+21G>A",
          "hgvs_p": null,
          "transcript": "ENST00000511937.5",
          "protein_id": "ENSP00000489476.1",
          "transcript_support_level": 1,
          "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": 2669,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "SPATA20",
          "gene_hgnc_id": 26125,
          "hgvs_c": "n.89+21G>A",
          "hgvs_p": null,
          "transcript": "ENST00000635113.1",
          "protein_id": null,
          "transcript_support_level": 1,
          "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": 1706,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 16,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "SPATA20",
          "gene_hgnc_id": 26125,
          "hgvs_c": "c.78-101G>A",
          "hgvs_p": null,
          "transcript": "NM_001258372.2",
          "protein_id": "NP_001245301.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 786,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2361,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2586,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 16,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "SPATA20",
          "gene_hgnc_id": 26125,
          "hgvs_c": "c.77+21G>A",
          "hgvs_p": null,
          "transcript": "ENST00000634597.1",
          "protein_id": "ENSP00000489591.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 786,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2361,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2587,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 17,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "SPATA20",
          "gene_hgnc_id": 26125,
          "hgvs_c": "c.-55-101G>A",
          "hgvs_p": null,
          "transcript": "NM_001258373.2",
          "protein_id": "NP_001245302.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 742,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2229,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2689,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "SPATA20",
          "gene_hgnc_id": 26125,
          "hgvs_c": "n.*73+21G>A",
          "hgvs_p": null,
          "transcript": "ENST00000502911.5",
          "protein_id": "ENSP00000422378.1",
          "transcript_support_level": 5,
          "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": 879,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "SPATA20",
          "gene_hgnc_id": 26125,
          "hgvs_c": "n.149+21G>A",
          "hgvs_p": null,
          "transcript": "ENST00000503063.5",
          "protein_id": null,
          "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,
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          "cdna_length": 3232,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 18,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "SPATA20",
          "gene_hgnc_id": 26125,
          "hgvs_c": "n.*49-101G>A",
          "hgvs_p": null,
          "transcript": "ENST00000504334.5",
          "protein_id": "ENSP00000424215.1",
          "transcript_support_level": 2,
          "aa_start": null,
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          "cds_start": -4,
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          "cdna_start": null,
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          "mane_select": null,
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        {
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          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 4,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "SPATA20",
          "gene_hgnc_id": 26125,
          "hgvs_c": "n.*109-101G>A",
          "hgvs_p": null,
          "transcript": "ENST00000505085.5",
          "protein_id": "ENSP00000427374.1",
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          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 628,
          "mane_select": null,
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        },
        {
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          "canonical": false,
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          "strand": true,
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          ],
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          "intron_rank": 1,
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          "gene_symbol": "SPATA20",
          "gene_hgnc_id": 26125,
          "hgvs_c": "n.102+21G>A",
          "hgvs_p": null,
          "transcript": "ENST00000505336.1",
          "protein_id": null,
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          "cds_start": -4,
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          "cdna_length": 534,
          "mane_select": null,
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        },
        {
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          "strand": true,
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          ],
          "exon_rank": null,
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          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "SPATA20",
          "gene_hgnc_id": 26125,
          "hgvs_c": "n.*167+21G>A",
          "hgvs_p": null,
          "transcript": "ENST00000505456.6",
          "protein_id": "ENSP00000426608.1",
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        {
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          "gene_symbol": "SPATA20",
          "gene_hgnc_id": 26125,
          "hgvs_c": "n.*236-101G>A",
          "hgvs_p": null,
          "transcript": "ENST00000505559.5",
          "protein_id": "ENSP00000426025.1",
          "transcript_support_level": 2,
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          "cdna_length": 1590,
          "mane_select": null,
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        {
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          "canonical": false,
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          "strand": true,
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": 2,
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          "gene_symbol": "SPATA20",
          "gene_hgnc_id": 26125,
          "hgvs_c": "n.372-101G>A",
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          "transcript": "ENST00000508598.5",
          "protein_id": null,
          "transcript_support_level": 4,
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          "mane_select": null,
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        {
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          "canonical": false,
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          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 4,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "SPATA20",
          "gene_hgnc_id": 26125,
          "hgvs_c": "n.*49-101G>A",
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          "transcript": "ENST00000510917.5",
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          ],
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          "gene_symbol": "SPATA20",
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          "hgvs_c": "n.126-101G>A",
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          "gene_symbol": "SPATA20",
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          "hgvs_c": "n.143+21G>A",
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          "transcript": "ENST00000512181.5",
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          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "SPATA20",
          "gene_hgnc_id": 26125,
          "hgvs_c": "n.86+21G>A",
          "hgvs_p": null,
          "transcript": "ENST00000512416.5",
          "protein_id": null,
          "transcript_support_level": 3,
          "aa_start": null,
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        {
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "SPATA20",
          "gene_hgnc_id": 26125,
          "hgvs_c": "n.78-101G>A",
          "hgvs_p": null,
          "transcript": "ENST00000515526.5",
          "protein_id": null,
          "transcript_support_level": 3,
          "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": 498,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SPATA20",
          "gene_hgnc_id": 26125,
          "hgvs_c": "n.*10G>A",
          "hgvs_p": null,
          "transcript": "ENST00000511605.1",
          "protein_id": null,
          "transcript_support_level": 4,
          "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": 559,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "SPATA20",
      "gene_hgnc_id": 26125,
      "dbsnp": "rs12943759",
      "frequency_reference_population": 0.35629496,
      "hom_count_reference_population": 103635,
      "allele_count_reference_population": 537260,
      "gnomad_exomes_af": 0.360745,
      "gnomad_genomes_af": 0.316601,
      "gnomad_exomes_ac": 489136,
      "gnomad_genomes_ac": 48124,
      "gnomad_exomes_homalt": 94685,
      "gnomad_genomes_homalt": 8950,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.8299999833106995,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.83,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 0.869,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
      "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": -12,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BA1",
      "acmg_by_gene": [
        {
          "score": -12,
          "benign_score": 12,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "ENST00000006658.11",
          "gene_symbol": "SPATA20",
          "hgnc_id": 26125,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.126-101G>A",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}