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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: 6-152244540-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=152244540&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "6",
      "pos": 152244540,
      "ref": "G",
      "alt": "A",
      "effect": "synonymous_variant",
      "transcript": "NM_182961.4",
      "consequences": [
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 106,
          "exon_rank_end": null,
          "exon_count": 146,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNE1",
          "gene_hgnc_id": 17089,
          "hgvs_c": "c.19689C>T",
          "hgvs_p": "p.Leu6563Leu",
          "transcript": "NM_182961.4",
          "protein_id": "NP_892006.3",
          "transcript_support_level": null,
          "aa_start": 6563,
          "aa_end": null,
          "aa_length": 8797,
          "cds_start": 19689,
          "cds_end": null,
          "cds_length": 26394,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000367255.10",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_182961.4"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 106,
          "exon_rank_end": null,
          "exon_count": 146,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNE1",
          "gene_hgnc_id": 17089,
          "hgvs_c": "c.19689C>T",
          "hgvs_p": "p.Leu6563Leu",
          "transcript": "ENST00000367255.10",
          "protein_id": "ENSP00000356224.5",
          "transcript_support_level": 1,
          "aa_start": 6563,
          "aa_end": null,
          "aa_length": 8797,
          "cds_start": 19689,
          "cds_end": null,
          "cds_length": 26394,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_182961.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000367255.10"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 105,
          "exon_rank_end": null,
          "exon_count": 146,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNE1",
          "gene_hgnc_id": 17089,
          "hgvs_c": "c.19476C>T",
          "hgvs_p": "p.Leu6492Leu",
          "transcript": "ENST00000423061.6",
          "protein_id": "ENSP00000396024.1",
          "transcript_support_level": 1,
          "aa_start": 6492,
          "aa_end": null,
          "aa_length": 8749,
          "cds_start": 19476,
          "cds_end": null,
          "cds_length": 26250,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000423061.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 61,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNE1",
          "gene_hgnc_id": 17089,
          "hgvs_c": "n.3381C>T",
          "hgvs_p": null,
          "transcript": "ENST00000367256.9",
          "protein_id": null,
          "transcript_support_level": 1,
          "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": "ENST00000367256.9"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 59,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNE1",
          "gene_hgnc_id": 17089,
          "hgvs_c": "n.3273C>T",
          "hgvs_p": null,
          "transcript": "ENST00000409694.6",
          "protein_id": null,
          "transcript_support_level": 1,
          "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": "ENST00000409694.6"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 105,
          "exon_rank_end": null,
          "exon_count": 146,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNE1",
          "gene_hgnc_id": 17089,
          "hgvs_c": "c.19476C>T",
          "hgvs_p": "p.Leu6492Leu",
          "transcript": "NM_033071.5",
          "protein_id": "NP_149062.2",
          "transcript_support_level": null,
          "aa_start": 6492,
          "aa_end": null,
          "aa_length": 8749,
          "cds_start": 19476,
          "cds_end": null,
          "cds_length": 26250,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_033071.5"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 106,
          "exon_rank_end": null,
          "exon_count": 148,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNE1",
          "gene_hgnc_id": 17089,
          "hgvs_c": "c.19725C>T",
          "hgvs_p": "p.Leu6575Leu",
          "transcript": "XM_006715407.2",
          "protein_id": "XP_006715470.1",
          "transcript_support_level": null,
          "aa_start": 6575,
          "aa_end": null,
          "aa_length": 8846,
          "cds_start": 19725,
          "cds_end": null,
          "cds_length": 26541,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_006715407.2"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 107,
          "exon_rank_end": null,
          "exon_count": 149,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNE1",
          "gene_hgnc_id": 17089,
          "hgvs_c": "c.19725C>T",
          "hgvs_p": "p.Leu6575Leu",
          "transcript": "XM_017010608.2",
          "protein_id": "XP_016866097.1",
          "transcript_support_level": null,
          "aa_start": 6575,
          "aa_end": null,
          "aa_length": 8846,
          "cds_start": 19725,
          "cds_end": null,
          "cds_length": 26541,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_017010608.2"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 106,
          "exon_rank_end": null,
          "exon_count": 148,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNE1",
          "gene_hgnc_id": 17089,
          "hgvs_c": "c.19725C>T",
          "hgvs_p": "p.Leu6575Leu",
          "transcript": "XM_017010609.2",
          "protein_id": "XP_016866098.1",
          "transcript_support_level": null,
          "aa_start": 6575,
          "aa_end": null,
          "aa_length": 8846,
          "cds_start": 19725,
          "cds_end": null,
          "cds_length": 26541,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_017010609.2"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 106,
          "exon_rank_end": null,
          "exon_count": 148,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNE1",
          "gene_hgnc_id": 17089,
          "hgvs_c": "c.19722C>T",
          "hgvs_p": "p.Leu6574Leu",
          "transcript": "XM_011535641.3",
          "protein_id": "XP_011533943.1",
          "transcript_support_level": null,
          "aa_start": 6574,
          "aa_end": null,
          "aa_length": 8845,
          "cds_start": 19722,
          "cds_end": null,
          "cds_length": 26538,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_011535641.3"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 106,
          "exon_rank_end": null,
          "exon_count": 148,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNE1",
          "gene_hgnc_id": 17089,
          "hgvs_c": "c.19713C>T",
          "hgvs_p": "p.Leu6571Leu",
          "transcript": "XM_006715408.3",
          "protein_id": "XP_006715471.1",
          "transcript_support_level": null,
          "aa_start": 6571,
          "aa_end": null,
          "aa_length": 8842,
          "cds_start": 19713,
          "cds_end": null,
          "cds_length": 26529,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_006715408.3"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 106,
          "exon_rank_end": null,
          "exon_count": 148,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNE1",
          "gene_hgnc_id": 17089,
          "hgvs_c": "c.19710C>T",
          "hgvs_p": "p.Leu6570Leu",
          "transcript": "XM_011535642.3",
          "protein_id": "XP_011533944.1",
          "transcript_support_level": null,
          "aa_start": 6570,
          "aa_end": null,
          "aa_length": 8841,
          "cds_start": 19710,
          "cds_end": null,
          "cds_length": 26526,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_011535642.3"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 105,
          "exon_rank_end": null,
          "exon_count": 147,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNE1",
          "gene_hgnc_id": 17089,
          "hgvs_c": "c.19704C>T",
          "hgvs_p": "p.Leu6568Leu",
          "transcript": "XM_006715409.2",
          "protein_id": "XP_006715472.1",
          "transcript_support_level": null,
          "aa_start": 6568,
          "aa_end": null,
          "aa_length": 8839,
          "cds_start": 19704,
          "cds_end": null,
          "cds_length": 26520,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_006715409.2"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 105,
          "exon_rank_end": null,
          "exon_count": 147,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNE1",
          "gene_hgnc_id": 17089,
          "hgvs_c": "c.19704C>T",
          "hgvs_p": "p.Leu6568Leu",
          "transcript": "XM_017010610.2",
          "protein_id": "XP_016866099.1",
          "transcript_support_level": null,
          "aa_start": 6568,
          "aa_end": null,
          "aa_length": 8839,
          "cds_start": 19704,
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          "feature": "XM_017010610.2"
        },
        {
          "aa_ref": "L",
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          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 106,
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          "exon_count": 148,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNE1",
          "gene_hgnc_id": 17089,
          "hgvs_c": "c.19704C>T",
          "hgvs_p": "p.Leu6568Leu",
          "transcript": "XM_047418501.1",
          "protein_id": "XP_047274457.1",
          "transcript_support_level": null,
          "aa_start": 6568,
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          "aa_length": 8839,
          "cds_start": 19704,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "XM_047418501.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 105,
          "exon_rank_end": null,
          "exon_count": 147,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNE1",
          "gene_hgnc_id": 17089,
          "hgvs_c": "c.19698C>T",
          "hgvs_p": "p.Leu6566Leu",
          "transcript": "XM_017010611.3",
          "protein_id": "XP_016866100.1",
          "transcript_support_level": null,
          "aa_start": 6566,
          "aa_end": null,
          "aa_length": 8837,
          "cds_start": 19698,
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          "cdna_start": null,
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          "biotype": "protein_coding",
          "feature": "XM_017010611.3"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 106,
          "exon_rank_end": null,
          "exon_count": 147,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNE1",
          "gene_hgnc_id": 17089,
          "hgvs_c": "c.19725C>T",
          "hgvs_p": "p.Leu6575Leu",
          "transcript": "XM_006715410.3",
          "protein_id": "XP_006715473.1",
          "transcript_support_level": null,
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          "cdna_start": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "L",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 106,
          "exon_rank_end": null,
          "exon_count": 147,
          "intron_rank": null,
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          "gene_symbol": "SYNE1",
          "gene_hgnc_id": 17089,
          "hgvs_c": "c.19722C>T",
          "hgvs_p": "p.Leu6574Leu",
          "transcript": "XM_047418502.1",
          "protein_id": "XP_047274458.1",
          "transcript_support_level": null,
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          "cds_start": 19722,
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        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 105,
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          "exon_count": 147,
          "intron_rank": null,
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          "gene_symbol": "SYNE1",
          "gene_hgnc_id": 17089,
          "hgvs_c": "c.19674C>T",
          "hgvs_p": "p.Leu6558Leu",
          "transcript": "XM_006715411.2",
          "protein_id": "XP_006715474.1",
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          "cds_start": 19674,
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          "cds_length": 26490,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_006715411.2"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 106,
          "exon_rank_end": null,
          "exon_count": 148,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNE1",
          "gene_hgnc_id": 17089,
          "hgvs_c": "c.19674C>T",
          "hgvs_p": "p.Leu6558Leu",
          "transcript": "XM_047418503.1",
          "protein_id": "XP_047274459.1",
          "transcript_support_level": null,
          "aa_start": 6558,
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          "aa_length": 8829,
          "cds_start": 19674,
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}
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.