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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: X-111681254-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=111681254&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "X",
      "pos": 111681254,
      "ref": "C",
      "alt": "T",
      "effect": "synonymous_variant",
      "transcript": "NM_001099922.3",
      "consequences": [
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALG13",
          "gene_hgnc_id": 30881,
          "hgvs_c": "c.36C>T",
          "hgvs_p": "p.Ser12Ser",
          "transcript": "NM_001099922.3",
          "protein_id": "NP_001093392.1",
          "transcript_support_level": null,
          "aa_start": 12,
          "aa_end": null,
          "aa_length": 1137,
          "cds_start": 36,
          "cds_end": null,
          "cds_length": 3414,
          "cdna_start": 85,
          "cdna_end": null,
          "cdna_length": 4113,
          "mane_select": "ENST00000394780.8",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALG13",
          "gene_hgnc_id": 30881,
          "hgvs_c": "c.36C>T",
          "hgvs_p": "p.Ser12Ser",
          "transcript": "ENST00000394780.8",
          "protein_id": "ENSP00000378260.3",
          "transcript_support_level": 2,
          "aa_start": 12,
          "aa_end": null,
          "aa_length": 1137,
          "cds_start": 36,
          "cds_end": null,
          "cds_length": 3414,
          "cdna_start": 85,
          "cdna_end": null,
          "cdna_length": 4113,
          "mane_select": "NM_001099922.3",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALG13",
          "gene_hgnc_id": 30881,
          "hgvs_c": "c.36C>T",
          "hgvs_p": "p.Ser12Ser",
          "transcript": "ENST00000371979.7",
          "protein_id": "ENSP00000361047.3",
          "transcript_support_level": 1,
          "aa_start": 12,
          "aa_end": null,
          "aa_length": 165,
          "cds_start": 36,
          "cds_end": null,
          "cds_length": 498,
          "cdna_start": 137,
          "cdna_end": null,
          "cdna_length": 2770,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALG13",
          "gene_hgnc_id": 30881,
          "hgvs_c": "c.36C>T",
          "hgvs_p": "p.Ser12Ser",
          "transcript": "NM_001324292.2",
          "protein_id": "NP_001311221.1",
          "transcript_support_level": null,
          "aa_start": 12,
          "aa_end": null,
          "aa_length": 1058,
          "cds_start": 36,
          "cds_end": null,
          "cds_length": 3177,
          "cdna_start": 85,
          "cdna_end": null,
          "cdna_length": 3876,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALG13",
          "gene_hgnc_id": 30881,
          "hgvs_c": "c.36C>T",
          "hgvs_p": "p.Ser12Ser",
          "transcript": "ENST00000623622.2",
          "protein_id": "ENSP00000485624.2",
          "transcript_support_level": 5,
          "aa_start": 12,
          "aa_end": null,
          "aa_length": 1000,
          "cds_start": 36,
          "cds_end": null,
          "cds_length": 3003,
          "cdna_start": 105,
          "cdna_end": null,
          "cdna_length": 3413,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALG13",
          "gene_hgnc_id": 30881,
          "hgvs_c": "c.36C>T",
          "hgvs_p": "p.Ser12Ser",
          "transcript": "NM_001324290.2",
          "protein_id": "NP_001311219.1",
          "transcript_support_level": null,
          "aa_start": 12,
          "aa_end": null,
          "aa_length": 167,
          "cds_start": 36,
          "cds_end": null,
          "cds_length": 504,
          "cdna_start": 85,
          "cdna_end": null,
          "cdna_length": 2724,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALG13",
          "gene_hgnc_id": 30881,
          "hgvs_c": "c.36C>T",
          "hgvs_p": "p.Ser12Ser",
          "transcript": "NM_018466.6",
          "protein_id": "NP_060936.1",
          "transcript_support_level": null,
          "aa_start": 12,
          "aa_end": null,
          "aa_length": 165,
          "cds_start": 36,
          "cds_end": null,
          "cds_length": 498,
          "cdna_start": 85,
          "cdna_end": null,
          "cdna_length": 2718,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALG13",
          "gene_hgnc_id": 30881,
          "hgvs_c": "c.21C>T",
          "hgvs_p": "p.Ser7Ser",
          "transcript": "ENST00000623255.1",
          "protein_id": "ENSP00000485333.1",
          "transcript_support_level": 3,
          "aa_start": 7,
          "aa_end": null,
          "aa_length": 162,
          "cds_start": 21,
          "cds_end": null,
          "cds_length": 489,
          "cdna_start": 21,
          "cdna_end": null,
          "cdna_length": 585,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALG13",
          "gene_hgnc_id": 30881,
          "hgvs_c": "c.36C>T",
          "hgvs_p": "p.Ser12Ser",
          "transcript": "NM_001039210.5",
          "protein_id": "NP_001034299.3",
          "transcript_support_level": null,
          "aa_start": 12,
          "aa_end": null,
          "aa_length": 138,
          "cds_start": 36,
          "cds_end": null,
          "cds_length": 417,
          "cdna_start": 85,
          "cdna_end": null,
          "cdna_length": 2659,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALG13",
          "gene_hgnc_id": 30881,
          "hgvs_c": "c.36C>T",
          "hgvs_p": "p.Ser12Ser",
          "transcript": "NM_001168385.3",
          "protein_id": "NP_001161857.1",
          "transcript_support_level": null,
          "aa_start": 12,
          "aa_end": null,
          "aa_length": 133,
          "cds_start": 36,
          "cds_end": null,
          "cds_length": 402,
          "cdna_start": 85,
          "cdna_end": null,
          "cdna_length": 2756,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALG13",
          "gene_hgnc_id": 30881,
          "hgvs_c": "c.36C>T",
          "hgvs_p": "p.Ser12Ser",
          "transcript": "ENST00000473389.5",
          "protein_id": "ENSP00000480711.1",
          "transcript_support_level": 2,
          "aa_start": 12,
          "aa_end": null,
          "aa_length": 133,
          "cds_start": 36,
          "cds_end": null,
          "cds_length": 402,
          "cdna_start": 66,
          "cdna_end": null,
          "cdna_length": 693,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALG13",
          "gene_hgnc_id": 30881,
          "hgvs_c": "c.36C>T",
          "hgvs_p": "p.Ser12Ser",
          "transcript": "ENST00000622986.3",
          "protein_id": "ENSP00000485067.1",
          "transcript_support_level": 2,
          "aa_start": 12,
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          "aa_length": 132,
          "cds_start": 36,
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          "cds_length": 399,
          "cdna_start": 60,
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          "cdna_length": 582,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
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          "gene_symbol": "ALG13",
          "gene_hgnc_id": 30881,
          "hgvs_c": "c.36C>T",
          "hgvs_p": "p.Ser12Ser",
          "transcript": "XM_011531028.3",
          "protein_id": "XP_011529330.1",
          "transcript_support_level": null,
          "aa_start": 12,
          "aa_end": null,
          "aa_length": 1161,
          "cds_start": 36,
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          "cdna_start": 85,
          "cdna_end": null,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 1,
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          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALG13",
          "gene_hgnc_id": 30881,
          "hgvs_c": "c.36C>T",
          "hgvs_p": "p.Ser12Ser",
          "transcript": "XM_017029846.2",
          "protein_id": "XP_016885335.1",
          "transcript_support_level": null,
          "aa_start": 12,
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          "cds_start": 36,
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          "cdna_start": 85,
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          "cdna_length": 4161,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 1,
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          "intron_rank": null,
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          "gene_symbol": "ALG13",
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          "hgvs_c": "c.36C>T",
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          "mane_select": null,
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          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 1,
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          "exon_count": 27,
          "intron_rank": null,
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          "gene_symbol": "ALG13",
          "gene_hgnc_id": 30881,
          "hgvs_c": "c.36C>T",
          "hgvs_p": "p.Ser12Ser",
          "transcript": "XM_047442520.1",
          "protein_id": "XP_047298476.1",
          "transcript_support_level": null,
          "aa_start": 12,
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          "cds_start": 36,
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          "cdna_start": 85,
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          "cdna_length": 4089,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
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          "gene_symbol": "ALG13",
          "gene_hgnc_id": 30881,
          "hgvs_c": "c.36C>T",
          "hgvs_p": "p.Ser12Ser",
          "transcript": "XM_006724693.4",
          "protein_id": "XP_006724756.1",
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 1,
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          "exon_count": 25,
          "intron_rank": null,
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          "gene_symbol": "ALG13",
          "gene_hgnc_id": 30881,
          "hgvs_c": "c.36C>T",
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        },
        {
          "aa_ref": "S",
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          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
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          "intron_rank": null,
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          "gene_symbol": "ALG13",
          "gene_hgnc_id": 30881,
          "hgvs_c": "c.36C>T",
          "hgvs_p": "p.Ser12Ser",
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 1,
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          "exon_count": 24,
          "intron_rank": null,
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          "gene_symbol": "ALG13",
          "gene_hgnc_id": 30881,
          "hgvs_c": "c.36C>T",
          "hgvs_p": "p.Ser12Ser",
          "transcript": "XM_047442522.1",
          "protein_id": "XP_047298478.1",
          "transcript_support_level": null,
          "aa_start": 12,
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          "aa_length": 1080,
          "cds_start": 36,
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          "cds_length": 3243,
          "cdna_start": 85,
          "cdna_end": null,
          "cdna_length": 3942,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALG13",
          "gene_hgnc_id": 30881,
          "hgvs_c": "c.36C>T",
          "hgvs_p": "p.Ser12Ser",
          "transcript": "XM_017029848.2",
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      "acmg_by_gene": [
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      "clinvar_disease": " 36,Developmental and epileptic encephalopathy",
      "clinvar_classification": "Likely benign",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "LB:1",
      "phenotype_combined": "Developmental and epileptic encephalopathy, 36",
      "pathogenicity_classification_combined": "Likely benign",
      "custom_annotations": null
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  "message": null
}