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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: 6-42963889-G-GTTTA (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=42963889&ref=G&alt=GTTTA&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "6",
      "pos": 42963889,
      "ref": "G",
      "alt": "GTTTA",
      "effect": "3_prime_UTR_variant",
      "transcript": "NM_000287.4",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PEX6",
          "gene_hgnc_id": 8859,
          "hgvs_c": "c.*442_*445dupTAAA",
          "hgvs_p": null,
          "transcript": "NM_000287.4",
          "protein_id": "NP_000278.3",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 980,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2943,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000304611.13",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_000287.4"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PEX6",
          "gene_hgnc_id": 8859,
          "hgvs_c": "c.*442_*445dupTAAA",
          "hgvs_p": null,
          "transcript": "ENST00000304611.13",
          "protein_id": "ENSP00000303511.8",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 980,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2943,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_000287.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000304611.13"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PEX6",
          "gene_hgnc_id": 8859,
          "hgvs_c": "c.*442_*445dupTAAA",
          "hgvs_p": null,
          "transcript": "ENST00000858654.1",
          "protein_id": "ENSP00000528713.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 954,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2865,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000858654.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PEX6",
          "gene_hgnc_id": 8859,
          "hgvs_c": "c.*442_*445dupTAAA",
          "hgvs_p": null,
          "transcript": "ENST00000858653.1",
          "protein_id": "ENSP00000528712.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 952,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2859,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000858653.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PEX6",
          "gene_hgnc_id": 8859,
          "hgvs_c": "c.*442_*445dupTAAA",
          "hgvs_p": null,
          "transcript": "NM_001316313.2",
          "protein_id": "NP_001303242.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 892,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2679,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001316313.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PEX6",
          "gene_hgnc_id": 8859,
          "hgvs_c": "c.*442_*445dupTAAA",
          "hgvs_p": null,
          "transcript": "ENST00000858652.1",
          "protein_id": "ENSP00000528711.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 892,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2679,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000858652.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PEX6",
          "gene_hgnc_id": 8859,
          "hgvs_c": "c.*442_*445dupTAAA",
          "hgvs_p": null,
          "transcript": "XM_011514661.3",
          "protein_id": "XP_011512963.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 952,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2859,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_011514661.3"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PEX6",
          "gene_hgnc_id": 8859,
          "hgvs_c": "c.*442_*445dupTAAA",
          "hgvs_p": null,
          "transcript": "XM_047418872.1",
          "protein_id": "XP_047274828.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 600,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1803,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047418872.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": 17,
          "intron_rank_end": null,
          "gene_symbol": "PEX6",
          "gene_hgnc_id": 8859,
          "hgvs_c": "c.*41+401_*41+404dupTAAA",
          "hgvs_p": null,
          "transcript": "ENST00000970120.1",
          "protein_id": "ENSP00000640179.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 980,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2943,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000970120.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": 17,
          "intron_rank_end": null,
          "gene_symbol": "PEX6",
          "gene_hgnc_id": 8859,
          "hgvs_c": "c.*41+401_*41+404dupTAAA",
          "hgvs_p": null,
          "transcript": "ENST00000858651.1",
          "protein_id": "ENSP00000528710.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 892,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2679,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000858651.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PEX6",
          "gene_hgnc_id": 8859,
          "hgvs_c": "n.3169_3172dupTAAA",
          "hgvs_p": null,
          "transcript": "NR_133009.2",
          "protein_id": null,
          "transcript_support_level": null,
          "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": "pseudogene",
          "feature": "NR_133009.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GNMT",
          "gene_hgnc_id": 4415,
          "hgvs_c": "c.*183_*184insTTTA",
          "hgvs_p": null,
          "transcript": "NM_018960.6",
          "protein_id": "NP_061833.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 295,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 888,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000372808.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_018960.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GNMT",
          "gene_hgnc_id": 4415,
          "hgvs_c": "c.*183_*184insTTTA",
          "hgvs_p": null,
          "transcript": "ENST00000372808.4",
          "protein_id": "ENSP00000361894.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 295,
          "cds_start": null,
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          "cds_length": 888,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_018960.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000372808.4"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PEX6",
          "gene_hgnc_id": 8859,
          "hgvs_c": "c.*442_*445dupTAAA",
          "hgvs_p": null,
          "transcript": "ENST00000858656.1",
          "protein_id": "ENSP00000528715.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 993,
          "cds_start": null,
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          "cds_length": 2982,
          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000858656.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
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          ],
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          "exon_count": 17,
          "intron_rank": null,
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          "gene_symbol": "PEX6",
          "gene_hgnc_id": 8859,
          "hgvs_c": "c.*442_*445dupTAAA",
          "hgvs_p": null,
          "transcript": "ENST00000858658.1",
          "protein_id": "ENSP00000528717.1",
          "transcript_support_level": null,
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          "aa_length": 987,
          "cds_start": null,
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          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000858658.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PEX6",
          "gene_hgnc_id": 8859,
          "hgvs_c": "c.*442_*445dupTAAA",
          "hgvs_p": null,
          "transcript": "ENST00000970122.1",
          "protein_id": "ENSP00000640181.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 874,
          "cds_start": null,
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          "cds_length": 2625,
          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": null,
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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": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PEX6",
          "gene_hgnc_id": 8859,
          "hgvs_c": "c.*442_*445dupTAAA",
          "hgvs_p": null,
          "transcript": "ENST00000970123.1",
          "protein_id": "ENSP00000640182.1",
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          "cds_start": null,
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          "cdna_start": null,
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        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
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          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
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          "gene_symbol": "PEX6",
          "gene_hgnc_id": 8859,
          "hgvs_c": "c.*442_*445dupTAAA",
          "hgvs_p": null,
          "transcript": "ENST00000858657.1",
          "protein_id": "ENSP00000528716.1",
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          "biotype": "protein_coding",
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        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
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          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PEX6",
          "gene_hgnc_id": 8859,
          "hgvs_c": "c.*442_*445dupTAAA",
          "hgvs_p": null,
          "transcript": "ENST00000970121.1",
          "protein_id": "ENSP00000640180.1",
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          "aa_length": 794,
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          "cds_length": 2385,
          "cdna_start": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000970121.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PEX6",
          "gene_hgnc_id": 8859,
          "hgvs_c": "c.*442_*445dupTAAA",
          "hgvs_p": null,
          "transcript": "ENST00000858655.1",
          "protein_id": "ENSP00000528714.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 761,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2286,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000858655.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
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      "acmg_by_gene": [
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        {
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        {
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      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
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}