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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: 22-38740267-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=38740267&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "22",
      "pos": 38740267,
      "ref": "G",
      "alt": "A",
      "effect": "splice_region_variant,synonymous_variant",
      "transcript": "ENST00000689035.1",
      "consequences": [
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SUN2",
          "gene_hgnc_id": 14210,
          "hgvs_c": "c.1356C>T",
          "hgvs_p": "p.Asp452Asp",
          "transcript": "NM_015374.3",
          "protein_id": "NP_056189.1",
          "transcript_support_level": null,
          "aa_start": 452,
          "aa_end": null,
          "aa_length": 717,
          "cds_start": 1356,
          "cds_end": null,
          "cds_length": 2154,
          "cdna_start": 1629,
          "cdna_end": null,
          "cdna_length": 3960,
          "mane_select": "ENST00000689035.1",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SUN2",
          "gene_hgnc_id": 14210,
          "hgvs_c": "c.1356C>T",
          "hgvs_p": "p.Asp452Asp",
          "transcript": "ENST00000689035.1",
          "protein_id": "ENSP00000508608.1",
          "transcript_support_level": null,
          "aa_start": 452,
          "aa_end": null,
          "aa_length": 717,
          "cds_start": 1356,
          "cds_end": null,
          "cds_length": 2154,
          "cdna_start": 1629,
          "cdna_end": null,
          "cdna_length": 3960,
          "mane_select": "NM_015374.3",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SUN2",
          "gene_hgnc_id": 14210,
          "hgvs_c": "c.1419C>T",
          "hgvs_p": "p.Asp473Asp",
          "transcript": "ENST00000405018.5",
          "protein_id": "ENSP00000385616.1",
          "transcript_support_level": 1,
          "aa_start": 473,
          "aa_end": null,
          "aa_length": 738,
          "cds_start": 1419,
          "cds_end": null,
          "cds_length": 2217,
          "cdna_start": 1693,
          "cdna_end": null,
          "cdna_length": 4022,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SUN2",
          "gene_hgnc_id": 14210,
          "hgvs_c": "c.1356C>T",
          "hgvs_p": "p.Asp452Asp",
          "transcript": "ENST00000405510.5",
          "protein_id": "ENSP00000385740.1",
          "transcript_support_level": 1,
          "aa_start": 452,
          "aa_end": null,
          "aa_length": 717,
          "cds_start": 1356,
          "cds_end": null,
          "cds_length": 2154,
          "cdna_start": 1715,
          "cdna_end": null,
          "cdna_length": 4055,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SUN2",
          "gene_hgnc_id": 14210,
          "hgvs_c": "c.1449C>T",
          "hgvs_p": "p.Asp483Asp",
          "transcript": "NM_001394427.1",
          "protein_id": "NP_001381356.1",
          "transcript_support_level": null,
          "aa_start": 483,
          "aa_end": null,
          "aa_length": 748,
          "cds_start": 1449,
          "cds_end": null,
          "cds_length": 2247,
          "cdna_start": 1722,
          "cdna_end": null,
          "cdna_length": 4053,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SUN2",
          "gene_hgnc_id": 14210,
          "hgvs_c": "c.1419C>T",
          "hgvs_p": "p.Asp473Asp",
          "transcript": "NM_001199579.2",
          "protein_id": "NP_001186508.1",
          "transcript_support_level": null,
          "aa_start": 473,
          "aa_end": null,
          "aa_length": 738,
          "cds_start": 1419,
          "cds_end": null,
          "cds_length": 2217,
          "cdna_start": 1692,
          "cdna_end": null,
          "cdna_length": 4023,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SUN2",
          "gene_hgnc_id": 14210,
          "hgvs_c": "c.1419C>T",
          "hgvs_p": "p.Asp473Asp",
          "transcript": "NM_001394428.1",
          "protein_id": "NP_001381357.1",
          "transcript_support_level": null,
          "aa_start": 473,
          "aa_end": null,
          "aa_length": 738,
          "cds_start": 1419,
          "cds_end": null,
          "cds_length": 2217,
          "cdna_start": 1757,
          "cdna_end": null,
          "cdna_length": 4088,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SUN2",
          "gene_hgnc_id": 14210,
          "hgvs_c": "c.1401C>T",
          "hgvs_p": "p.Asp467Asp",
          "transcript": "NM_001394429.1",
          "protein_id": "NP_001381358.1",
          "transcript_support_level": null,
          "aa_start": 467,
          "aa_end": null,
          "aa_length": 732,
          "cds_start": 1401,
          "cds_end": null,
          "cds_length": 2199,
          "cdna_start": 1739,
          "cdna_end": null,
          "cdna_length": 4070,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SUN2",
          "gene_hgnc_id": 14210,
          "hgvs_c": "c.1401C>T",
          "hgvs_p": "p.Asp467Asp",
          "transcript": "NM_001394430.1",
          "protein_id": "NP_001381359.1",
          "transcript_support_level": null,
          "aa_start": 467,
          "aa_end": null,
          "aa_length": 732,
          "cds_start": 1401,
          "cds_end": null,
          "cds_length": 2199,
          "cdna_start": 1674,
          "cdna_end": null,
          "cdna_length": 4005,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SUN2",
          "gene_hgnc_id": 14210,
          "hgvs_c": "c.1356C>T",
          "hgvs_p": "p.Asp452Asp",
          "transcript": "NM_001394431.1",
          "protein_id": "NP_001381360.1",
          "transcript_support_level": null,
          "aa_start": 452,
          "aa_end": null,
          "aa_length": 725,
          "cds_start": 1356,
          "cds_end": null,
          "cds_length": 2178,
          "cdna_start": 1675,
          "cdna_end": null,
          "cdna_length": 3922,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SUN2",
          "gene_hgnc_id": 14210,
          "hgvs_c": "c.1356C>T",
          "hgvs_p": "p.Asp452Asp",
          "transcript": "ENST00000455125.2",
          "protein_id": "ENSP00000390154.2",
          "transcript_support_level": 2,
          "aa_start": 452,
          "aa_end": null,
          "aa_length": 725,
          "cds_start": 1356,
          "cds_end": null,
          "cds_length": 2178,
          "cdna_start": 1449,
          "cdna_end": null,
          "cdna_length": 2976,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SUN2",
          "gene_hgnc_id": 14210,
          "hgvs_c": "c.1356C>T",
          "hgvs_p": "p.Asp452Asp",
          "transcript": "NM_001199580.2",
          "protein_id": "NP_001186509.1",
          "transcript_support_level": null,
          "aa_start": 452,
          "aa_end": null,
          "aa_length": 717,
          "cds_start": 1356,
          "cds_end": null,
          "cds_length": 2154,
          "cdna_start": 1653,
          "cdna_end": null,
          "cdna_length": 3984,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SUN2",
          "gene_hgnc_id": 14210,
          "hgvs_c": "c.1356C>T",
          "hgvs_p": "p.Asp452Asp",
          "transcript": "NM_001394432.1",
          "protein_id": "NP_001381361.1",
          "transcript_support_level": null,
          "aa_start": 452,
          "aa_end": null,
          "aa_length": 717,
          "cds_start": 1356,
          "cds_end": null,
          "cds_length": 2154,
          "cdna_start": 1527,
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          "cdna_length": 3858,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SUN2",
          "gene_hgnc_id": 14210,
          "hgvs_c": "c.1356C>T",
          "hgvs_p": "p.Asp452Asp",
          "transcript": "NM_001394433.1",
          "protein_id": "NP_001381362.1",
          "transcript_support_level": null,
          "aa_start": 452,
          "aa_end": null,
          "aa_length": 717,
          "cds_start": 1356,
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          "cdna_start": 1694,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SUN2",
          "gene_hgnc_id": 14210,
          "hgvs_c": "c.1356C>T",
          "hgvs_p": "p.Asp452Asp",
          "transcript": "NM_001394434.1",
          "protein_id": "NP_001381363.1",
          "transcript_support_level": null,
          "aa_start": 452,
          "aa_end": null,
          "aa_length": 717,
          "cds_start": 1356,
          "cds_end": null,
          "cds_length": 2154,
          "cdna_start": 1675,
          "cdna_end": null,
          "cdna_length": 4006,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SUN2",
          "gene_hgnc_id": 14210,
          "hgvs_c": "c.1356C>T",
          "hgvs_p": "p.Asp452Asp",
          "transcript": "NM_001394435.1",
          "protein_id": "NP_001381364.1",
          "transcript_support_level": null,
          "aa_start": 452,
          "aa_end": null,
          "aa_length": 717,
          "cds_start": 1356,
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          "cdna_start": 1678,
          "cdna_end": null,
          "cdna_length": 4009,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SUN2",
          "gene_hgnc_id": 14210,
          "hgvs_c": "c.1356C>T",
          "hgvs_p": "p.Asp452Asp",
          "transcript": "ENST00000406622.5",
          "protein_id": "ENSP00000383992.1",
          "transcript_support_level": 2,
          "aa_start": 452,
          "aa_end": null,
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          "cds_start": 1356,
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          "cdna_start": 1569,
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          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
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          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
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          "gene_symbol": "SUN2",
          "gene_hgnc_id": 14210,
          "hgvs_c": "c.1356C>T",
          "hgvs_p": "p.Asp452Asp",
          "transcript": "NM_001394436.1",
          "protein_id": "NP_001381365.1",
          "transcript_support_level": null,
          "aa_start": 452,
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          "cds_start": 1356,
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          "cdna_start": 1694,
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        },
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 12,
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          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SUN2",
          "gene_hgnc_id": 14210,
          "hgvs_c": "c.1356C>T",
          "hgvs_p": "p.Asp452Asp",
          "transcript": "NM_001394437.1",
          "protein_id": "NP_001381366.1",
          "transcript_support_level": null,
          "aa_start": 452,
          "aa_end": null,
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          "cds_start": 1356,
          "cds_end": null,
          "cds_length": 2151,
          "cdna_start": 1629,
          "cdna_end": null,
          "cdna_length": 3957,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SUN2",
          "gene_hgnc_id": 14210,
          "hgvs_c": "c.1266C>T",
          "hgvs_p": "p.Asp422Asp",
          "transcript": "NM_001394438.1",
          "protein_id": "NP_001381367.1",
          "transcript_support_level": null,
          "aa_start": 422,
          "aa_end": null,
          "aa_length": 687,
          "cds_start": 1266,
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      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.93,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -1.658,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
      "dbscsnv_ada_score": 0.000197510398170744,
      "dbscsnv_ada_prediction": "Benign",
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": -21,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
      "acmg_by_gene": [
        {
          "score": -21,
          "benign_score": 21,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BP6_Very_Strong",
            "BP7",
            "BS1",
            "BS2"
          ],
          "verdict": "Benign",
          "transcript": "ENST00000689035.1",
          "gene_symbol": "SUN2",
          "hgnc_id": 14210,
          "effects": [
            "splice_region_variant",
            "synonymous_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.1356C>T",
          "hgvs_p": "p.Asp452Asp"
        },
        {
          "score": -20,
          "benign_score": 20,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BP6_Very_Strong",
            "BS1",
            "BS2"
          ],
          "verdict": "Benign",
          "transcript": "XM_011530537.3",
          "gene_symbol": "GTPBP1",
          "hgnc_id": 4669,
          "effects": [
            "3_prime_UTR_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.*2268G>A",
          "hgvs_p": null
        },
        {
          "score": -20,
          "benign_score": 20,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BP6_Very_Strong",
            "BS1",
            "BS2"
          ],
          "verdict": "Benign",
          "transcript": "ENST00000416406.1",
          "gene_symbol": "ENSG00000225450",
          "hgnc_id": null,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.165+1100G>A",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "Emery-Dreifuss muscular dystrophy,not provided",
      "clinvar_classification": "Benign",
      "clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
      "clinvar_submissions_summary": "B:2",
      "phenotype_combined": "Emery-Dreifuss muscular dystrophy|not provided",
      "pathogenicity_classification_combined": "Benign",
      "custom_annotations": null
    }
  ],
  "message": null
}