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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: 6-35372523-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=35372523&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "6",
      "pos": 35372523,
      "ref": "C",
      "alt": "T",
      "effect": "intron_variant",
      "transcript": "ENST00000360694.8",
      "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": 8,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.-102+25373C>T",
          "hgvs_p": null,
          "transcript": "NM_006238.5",
          "protein_id": "NP_006229.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 441,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1326,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3734,
          "mane_select": "ENST00000360694.8",
          "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": 8,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.-102+25373C>T",
          "hgvs_p": null,
          "transcript": "ENST00000360694.8",
          "protein_id": "ENSP00000353916.3",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 441,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1326,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3734,
          "mane_select": "NM_006238.5",
          "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": 9,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.-197-24975C>T",
          "hgvs_p": null,
          "transcript": "NM_001171818.2",
          "protein_id": "NP_001165289.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 441,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1326,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3830,
          "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": 9,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.-197-24975C>T",
          "hgvs_p": null,
          "transcript": "ENST00000311565.4",
          "protein_id": "ENSP00000310928.4",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 441,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1326,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3774,
          "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": 7,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.13+25373C>T",
          "hgvs_p": null,
          "transcript": "NM_001171819.2",
          "protein_id": "NP_001165290.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 402,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1209,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3503,
          "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": 7,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.13+25373C>T",
          "hgvs_p": null,
          "transcript": "ENST00000448077.6",
          "protein_id": "ENSP00000414372.2",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 402,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1209,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3516,
          "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": 7,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.-102+25373C>T",
          "hgvs_p": null,
          "transcript": "NM_177435.3",
          "protein_id": "NP_803184.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 361,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1086,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2008,
          "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": 8,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.-197-24975C>T",
          "hgvs_p": null,
          "transcript": "ENST00000337400.6",
          "protein_id": "ENSP00000337063.2",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 361,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1086,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2041,
          "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": 6,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.-102+25373C>T",
          "hgvs_p": null,
          "transcript": "NM_001171820.2",
          "protein_id": "NP_001165291.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 343,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1032,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3440,
          "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": 6,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.-102+25373C>T",
          "hgvs_p": null,
          "transcript": "ENST00000418635.6",
          "protein_id": "ENSP00000413314.2",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 343,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1032,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3453,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000297330",
          "gene_hgnc_id": null,
          "hgvs_c": "n.85+9460G>A",
          "hgvs_p": null,
          "transcript": "ENST00000747152.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 419,
          "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": 8,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.-102+25373C>T",
          "hgvs_p": null,
          "transcript": "XM_005249193.2",
          "protein_id": "XP_005249250.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 441,
          "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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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 7,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.-102+29842C>T",
          "hgvs_p": null,
          "transcript": "XM_006715123.2",
          "protein_id": "XP_006715186.1",
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          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 3650,
          "mane_select": null,
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          "feature": null
        },
        {
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          "consequences": [
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          ],
          "exon_rank": null,
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          "intron_rank": 4,
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          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.-102+19473C>T",
          "hgvs_p": null,
          "transcript": "XM_011514707.2",
          "protein_id": "XP_011513009.1",
          "transcript_support_level": 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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          "biotype": null,
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        {
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          "strand": true,
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          ],
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          "exon_count": 9,
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          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.-102+23520C>T",
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          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.-326-24454C>T",
          "hgvs_p": null,
          "transcript": "XM_017010973.2",
          "protein_id": "XP_016866462.1",
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          "cdna_length": 3959,
          "mane_select": null,
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        },
        {
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          ],
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          "exon_count": 9,
          "intron_rank": 3,
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          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.-102+19473C>T",
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          "transcript": "XM_017010974.2",
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          "mane_select": null,
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        {
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          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 10,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.-102+23520C>T",
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          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.-102+19473C>T",
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          ],
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          "intron_rank": 5,
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          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.-102+19473C>T",
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          "transcript": "XM_047418917.1",
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          "cdna_start": null,
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          "feature": null
        },
        {
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          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 9,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "PPARD",
          "gene_hgnc_id": 9235,
          "hgvs_c": "c.-102+19473C>T",
          "hgvs_p": null,
          "transcript": "XM_047418918.1",
          "protein_id": "XP_047274874.1",
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