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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: 11-126406951-T-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=126406951&ref=T&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "11",
      "pos": 126406951,
      "ref": "T",
      "alt": "A",
      "effect": "missense_variant",
      "transcript": "NM_001348396.2",
      "consequences": [
        {
          "aa_ref": "F",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ST3GAL4",
          "gene_hgnc_id": 10864,
          "hgvs_c": "c.110T>A",
          "hgvs_p": "p.Phe37Tyr",
          "transcript": "NM_001254757.2",
          "protein_id": "NP_001241686.1",
          "transcript_support_level": null,
          "aa_start": 37,
          "aa_end": null,
          "aa_length": 333,
          "cds_start": 110,
          "cds_end": null,
          "cds_length": 1002,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000444328.7",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001254757.2"
        },
        {
          "aa_ref": "F",
          "aa_alt": "Y",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ST3GAL4",
          "gene_hgnc_id": 10864,
          "hgvs_c": "c.110T>A",
          "hgvs_p": "p.Phe37Tyr",
          "transcript": "ENST00000444328.7",
          "protein_id": "ENSP00000394354.2",
          "transcript_support_level": 5,
          "aa_start": 37,
          "aa_end": null,
          "aa_length": 333,
          "cds_start": 110,
          "cds_end": null,
          "cds_length": 1002,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001254757.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000444328.7"
        },
        {
          "aa_ref": "F",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ST3GAL4",
          "gene_hgnc_id": 10864,
          "hgvs_c": "c.110T>A",
          "hgvs_p": "p.Phe37Tyr",
          "transcript": "ENST00000392669.6",
          "protein_id": "ENSP00000376437.2",
          "transcript_support_level": 1,
          "aa_start": 37,
          "aa_end": null,
          "aa_length": 333,
          "cds_start": 110,
          "cds_end": null,
          "cds_length": 1002,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000392669.6"
        },
        {
          "aa_ref": "F",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ST3GAL4",
          "gene_hgnc_id": 10864,
          "hgvs_c": "c.110T>A",
          "hgvs_p": "p.Phe37Tyr",
          "transcript": "ENST00000526727.5",
          "protein_id": "ENSP00000436047.1",
          "transcript_support_level": 1,
          "aa_start": 37,
          "aa_end": null,
          "aa_length": 333,
          "cds_start": 110,
          "cds_end": null,
          "cds_length": 1002,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000526727.5"
        },
        {
          "aa_ref": "F",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ST3GAL4",
          "gene_hgnc_id": 10864,
          "hgvs_c": "c.107T>A",
          "hgvs_p": "p.Phe36Tyr",
          "transcript": "ENST00000532243.5",
          "protein_id": "ENSP00000434349.1",
          "transcript_support_level": 1,
          "aa_start": 36,
          "aa_end": null,
          "aa_length": 332,
          "cds_start": 107,
          "cds_end": null,
          "cds_length": 999,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000532243.5"
        },
        {
          "aa_ref": "F",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ST3GAL4",
          "gene_hgnc_id": 10864,
          "hgvs_c": "c.98T>A",
          "hgvs_p": "p.Phe33Tyr",
          "transcript": "ENST00000530591.5",
          "protein_id": "ENSP00000433989.1",
          "transcript_support_level": 1,
          "aa_start": 33,
          "aa_end": null,
          "aa_length": 329,
          "cds_start": 98,
          "cds_end": null,
          "cds_length": 990,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000530591.5"
        },
        {
          "aa_ref": "F",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ST3GAL4",
          "gene_hgnc_id": 10864,
          "hgvs_c": "c.95T>A",
          "hgvs_p": "p.Phe32Tyr",
          "transcript": "ENST00000534457.5",
          "protein_id": "ENSP00000434668.1",
          "transcript_support_level": 1,
          "aa_start": 32,
          "aa_end": null,
          "aa_length": 328,
          "cds_start": 95,
          "cds_end": null,
          "cds_length": 987,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000534457.5"
        },
        {
          "aa_ref": "F",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ST3GAL4",
          "gene_hgnc_id": 10864,
          "hgvs_c": "c.173T>A",
          "hgvs_p": "p.Phe58Tyr",
          "transcript": "NM_001348396.2",
          "protein_id": "NP_001335325.1",
          "transcript_support_level": null,
          "aa_start": 58,
          "aa_end": null,
          "aa_length": 354,
          "cds_start": 173,
          "cds_end": null,
          "cds_length": 1065,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001348396.2"
        },
        {
          "aa_ref": "F",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ST3GAL4",
          "gene_hgnc_id": 10864,
          "hgvs_c": "c.173T>A",
          "hgvs_p": "p.Phe58Tyr",
          "transcript": "NM_001348397.2",
          "protein_id": "NP_001335326.1",
          "transcript_support_level": null,
          "aa_start": 58,
          "aa_end": null,
          "aa_length": 354,
          "cds_start": 173,
          "cds_end": null,
          "cds_length": 1065,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001348397.2"
        },
        {
          "aa_ref": "F",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ST3GAL4",
          "gene_hgnc_id": 10864,
          "hgvs_c": "c.173T>A",
          "hgvs_p": "p.Phe58Tyr",
          "transcript": "ENST00000356132.9",
          "protein_id": "ENSP00000348451.5",
          "transcript_support_level": 5,
          "aa_start": 58,
          "aa_end": null,
          "aa_length": 354,
          "cds_start": 173,
          "cds_end": null,
          "cds_length": 1065,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000356132.9"
        },
        {
          "aa_ref": "F",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ST3GAL4",
          "gene_hgnc_id": 10864,
          "hgvs_c": "c.110T>A",
          "hgvs_p": "p.Phe37Tyr",
          "transcript": "ENST00000678865.1",
          "protein_id": "ENSP00000504245.1",
          "transcript_support_level": null,
          "aa_start": 37,
          "aa_end": null,
          "aa_length": 354,
          "cds_start": 110,
          "cds_end": null,
          "cds_length": 1065,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000678865.1"
        },
        {
          "aa_ref": "F",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ST3GAL4",
          "gene_hgnc_id": 10864,
          "hgvs_c": "c.98T>A",
          "hgvs_p": "p.Phe33Tyr",
          "transcript": "NM_001348398.2",
          "protein_id": "NP_001335327.1",
          "transcript_support_level": null,
          "aa_start": 33,
          "aa_end": null,
          "aa_length": 350,
          "cds_start": 98,
          "cds_end": null,
          "cds_length": 1053,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001348398.2"
        },
        {
          "aa_ref": "F",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
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          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ST3GAL4",
          "gene_hgnc_id": 10864,
          "hgvs_c": "c.98T>A",
          "hgvs_p": "p.Phe33Tyr",
          "transcript": "ENST00000677503.1",
          "protein_id": "ENSP00000504548.1",
          "transcript_support_level": null,
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          "aa_end": null,
          "aa_length": 350,
          "cds_start": 98,
          "cds_end": null,
          "cds_length": 1053,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000677503.1"
        },
        {
          "aa_ref": "F",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ST3GAL4",
          "gene_hgnc_id": 10864,
          "hgvs_c": "c.110T>A",
          "hgvs_p": "p.Phe37Tyr",
          "transcript": "NM_001254758.2",
          "protein_id": "NP_001241687.1",
          "transcript_support_level": null,
          "aa_start": 37,
          "aa_end": null,
          "aa_length": 333,
          "cds_start": 110,
          "cds_end": null,
          "cds_length": 1002,
          "cdna_start": null,
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          "biotype": "protein_coding",
          "feature": "NM_001254758.2"
        },
        {
          "aa_ref": "F",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 4,
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          "intron_rank": null,
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          "gene_symbol": "ST3GAL4",
          "gene_hgnc_id": 10864,
          "hgvs_c": "c.110T>A",
          "hgvs_p": "p.Phe37Tyr",
          "transcript": "NM_001348399.2",
          "protein_id": "NP_001335328.1",
          "transcript_support_level": null,
          "aa_start": 37,
          "aa_end": null,
          "aa_length": 333,
          "cds_start": 110,
          "cds_end": null,
          "cds_length": 1002,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001348399.2"
        },
        {
          "aa_ref": "F",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ST3GAL4",
          "gene_hgnc_id": 10864,
          "hgvs_c": "c.110T>A",
          "hgvs_p": "p.Phe37Tyr",
          "transcript": "ENST00000534083.5",
          "protein_id": "ENSP00000433318.1",
          "transcript_support_level": 5,
          "aa_start": 37,
          "aa_end": null,
          "aa_length": 333,
          "cds_start": 110,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "F",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ST3GAL4",
          "gene_hgnc_id": 10864,
          "hgvs_c": "c.110T>A",
          "hgvs_p": "p.Phe37Tyr",
          "transcript": "ENST00000860623.1",
          "protein_id": "ENSP00000530682.1",
          "transcript_support_level": null,
          "aa_start": 37,
          "aa_end": null,
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          "cdna_start": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "F",
          "aa_alt": "Y",
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          "protein_coding": true,
          "strand": true,
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          ],
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          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
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          "gene_symbol": "ST3GAL4",
          "gene_hgnc_id": 10864,
          "hgvs_c": "c.110T>A",
          "hgvs_p": "p.Phe37Tyr",
          "transcript": "ENST00000860629.1",
          "protein_id": "ENSP00000530688.1",
          "transcript_support_level": null,
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          "cds_start": 110,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "F",
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          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
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          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ST3GAL4",
          "gene_hgnc_id": 10864,
          "hgvs_c": "c.110T>A",
          "hgvs_p": "p.Phe37Tyr",
          "transcript": "ENST00000860631.1",
          "protein_id": "ENSP00000530690.1",
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          "aa_start": 37,
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          "cds_start": 110,
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          "cds_length": 1002,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000860631.1"
        },
        {
          "aa_ref": "F",
          "aa_alt": "Y",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ST3GAL4",
          "gene_hgnc_id": 10864,
          "hgvs_c": "c.110T>A",
          "hgvs_p": "p.Phe37Tyr",
          "transcript": "ENST00000860632.1",
          "protein_id": "ENSP00000530691.1",
          "transcript_support_level": null,
          "aa_start": 37,
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          "cds_start": 110,
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          "cdna_start": null,
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          "cdna_length": null,
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}