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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: 3-136298022-G-GCC (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=136298022&ref=G&alt=GCC&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "3",
      "pos": 136298022,
      "ref": "G",
      "alt": "GCC",
      "effect": "frameshift_variant",
      "transcript": "NM_001178014.2",
      "consequences": [
        {
          "aa_ref": "L",
          "aa_alt": "P?",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PCCB",
          "gene_hgnc_id": 8654,
          "hgvs_c": "c.837_838dupCC",
          "hgvs_p": "p.Leu280fs",
          "transcript": "NM_000532.5",
          "protein_id": "NP_000523.2",
          "transcript_support_level": null,
          "aa_start": 280,
          "aa_end": null,
          "aa_length": 539,
          "cds_start": 839,
          "cds_end": null,
          "cds_length": 1620,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000251654.9",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_000532.5"
        },
        {
          "aa_ref": "L",
          "aa_alt": "P?",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PCCB",
          "gene_hgnc_id": 8654,
          "hgvs_c": "c.837_838dupCC",
          "hgvs_p": "p.Leu280fs",
          "transcript": "ENST00000251654.9",
          "protein_id": "ENSP00000251654.4",
          "transcript_support_level": 1,
          "aa_start": 280,
          "aa_end": null,
          "aa_length": 539,
          "cds_start": 839,
          "cds_end": null,
          "cds_length": 1620,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_000532.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000251654.9"
        },
        {
          "aa_ref": "L",
          "aa_alt": "P?",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PCCB",
          "gene_hgnc_id": 8654,
          "hgvs_c": "c.837_838dupCC",
          "hgvs_p": "p.Leu280fs",
          "transcript": "ENST00000471595.5",
          "protein_id": "ENSP00000417549.1",
          "transcript_support_level": 1,
          "aa_start": 280,
          "aa_end": null,
          "aa_length": 550,
          "cds_start": 839,
          "cds_end": null,
          "cds_length": 1653,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000471595.5"
        },
        {
          "aa_ref": "L",
          "aa_alt": "P?",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PCCB",
          "gene_hgnc_id": 8654,
          "hgvs_c": "c.837_838dupCC",
          "hgvs_p": "p.Leu280fs",
          "transcript": "ENST00000478469.5",
          "protein_id": "ENSP00000420759.1",
          "transcript_support_level": 1,
          "aa_start": 280,
          "aa_end": null,
          "aa_length": 303,
          "cds_start": 839,
          "cds_end": null,
          "cds_length": 912,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000478469.5"
        },
        {
          "aa_ref": "L",
          "aa_alt": "P?",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PCCB",
          "gene_hgnc_id": 8654,
          "hgvs_c": "c.897_898dupCC",
          "hgvs_p": "p.Leu300fs",
          "transcript": "ENST00000878355.1",
          "protein_id": "ENSP00000548414.1",
          "transcript_support_level": null,
          "aa_start": 300,
          "aa_end": null,
          "aa_length": 579,
          "cds_start": 899,
          "cds_end": null,
          "cds_length": 1740,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000878355.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "P?",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PCCB",
          "gene_hgnc_id": 8654,
          "hgvs_c": "c.948_949dupCC",
          "hgvs_p": "p.Leu317fs",
          "transcript": "ENST00000878352.1",
          "protein_id": "ENSP00000548411.1",
          "transcript_support_level": null,
          "aa_start": 317,
          "aa_end": null,
          "aa_length": 576,
          "cds_start": 950,
          "cds_end": null,
          "cds_length": 1731,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000878352.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "P?",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PCCB",
          "gene_hgnc_id": 8654,
          "hgvs_c": "c.930_931dupCC",
          "hgvs_p": "p.Leu311fs",
          "transcript": "ENST00000468777.5",
          "protein_id": "ENSP00000419129.1",
          "transcript_support_level": 3,
          "aa_start": 311,
          "aa_end": null,
          "aa_length": 570,
          "cds_start": 932,
          "cds_end": null,
          "cds_length": 1713,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000468777.5"
        },
        {
          "aa_ref": "L",
          "aa_alt": "P?",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PCCB",
          "gene_hgnc_id": 8654,
          "hgvs_c": "c.930_931dupCC",
          "hgvs_p": "p.Leu311fs",
          "transcript": "ENST00000878348.1",
          "protein_id": "ENSP00000548407.1",
          "transcript_support_level": null,
          "aa_start": 311,
          "aa_end": null,
          "aa_length": 570,
          "cds_start": 932,
          "cds_end": null,
          "cds_length": 1713,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000878348.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "P?",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PCCB",
          "gene_hgnc_id": 8654,
          "hgvs_c": "c.924_925dupCC",
          "hgvs_p": "p.Leu309fs",
          "transcript": "ENST00000878344.1",
          "protein_id": "ENSP00000548403.1",
          "transcript_support_level": null,
          "aa_start": 309,
          "aa_end": null,
          "aa_length": 568,
          "cds_start": 926,
          "cds_end": null,
          "cds_length": 1707,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000878344.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "P?",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PCCB",
          "gene_hgnc_id": 8654,
          "hgvs_c": "c.897_898dupCC",
          "hgvs_p": "p.Leu300fs",
          "transcript": "NM_001178014.2",
          "protein_id": "NP_001171485.1",
          "transcript_support_level": null,
          "aa_start": 300,
          "aa_end": null,
          "aa_length": 559,
          "cds_start": 899,
          "cds_end": null,
          "cds_length": 1680,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001178014.2"
        },
        {
          "aa_ref": "L",
          "aa_alt": "P?",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PCCB",
          "gene_hgnc_id": 8654,
          "hgvs_c": "c.837_838dupCC",
          "hgvs_p": "p.Leu280fs",
          "transcript": "ENST00000466072.5",
          "protein_id": "ENSP00000420158.1",
          "transcript_support_level": 3,
          "aa_start": 280,
          "aa_end": null,
          "aa_length": 559,
          "cds_start": 839,
          "cds_end": null,
          "cds_length": 1680,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000466072.5"
        },
        {
          "aa_ref": "L",
          "aa_alt": "P?",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PCCB",
          "gene_hgnc_id": 8654,
          "hgvs_c": "c.897_898dupCC",
          "hgvs_p": "p.Leu300fs",
          "transcript": "ENST00000469217.5",
          "protein_id": "ENSP00000419027.1",
          "transcript_support_level": 2,
          "aa_start": 300,
          "aa_end": null,
          "aa_length": 559,
          "cds_start": 899,
          "cds_end": null,
          "cds_length": 1680,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000469217.5"
        },
        {
          "aa_ref": "L",
          "aa_alt": "P?",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PCCB",
          "gene_hgnc_id": 8654,
          "hgvs_c": "c.837_838dupCC",
          "hgvs_p": "p.Leu280fs",
          "transcript": "ENST00000878354.1",
          "protein_id": "ENSP00000548413.1",
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          "aa_start": 280,
          "aa_end": null,
          "aa_length": 537,
          "cds_start": 839,
          "cds_end": null,
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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": "ENST00000878354.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "P?",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PCCB",
          "gene_hgnc_id": 8654,
          "hgvs_c": "c.831_832dupCC",
          "hgvs_p": "p.Leu278fs",
          "transcript": "ENST00000954230.1",
          "protein_id": "ENSP00000624289.1",
          "transcript_support_level": null,
          "aa_start": 278,
          "aa_end": null,
          "aa_length": 537,
          "cds_start": 833,
          "cds_end": null,
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          "cdna_start": null,
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          "biotype": "protein_coding",
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        },
        {
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          "canonical": false,
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          "consequences": [
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          ],
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          "intron_rank": null,
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          "gene_symbol": "PCCB",
          "gene_hgnc_id": 8654,
          "hgvs_c": "c.780_781dupCC",
          "hgvs_p": "p.Leu261fs",
          "transcript": "ENST00000483687.5",
          "protein_id": "ENSP00000420639.1",
          "transcript_support_level": 3,
          "aa_start": 261,
          "aa_end": null,
          "aa_length": 520,
          "cds_start": 782,
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          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000483687.5"
        },
        {
          "aa_ref": "L",
          "aa_alt": "P?",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PCCB",
          "gene_hgnc_id": 8654,
          "hgvs_c": "c.717_718dupCC",
          "hgvs_p": "p.Leu240fs",
          "transcript": "ENST00000954231.1",
          "protein_id": "ENSP00000624290.1",
          "transcript_support_level": null,
          "aa_start": 240,
          "aa_end": null,
          "aa_length": 519,
          "cds_start": 719,
          "cds_end": null,
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          "mane_select": 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": true,
          "consequences": [
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          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PCCB",
          "gene_hgnc_id": 8654,
          "hgvs_c": "c.768_769dupCC",
          "hgvs_p": "p.Leu257fs",
          "transcript": "ENST00000462637.5",
          "protein_id": "ENSP00000420391.1",
          "transcript_support_level": 3,
          "aa_start": 257,
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          "biotype": "protein_coding",
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        {
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          "canonical": false,
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          ],
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          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
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          "gene_symbol": "PCCB",
          "gene_hgnc_id": 8654,
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          "hgvs_p": "p.Leu280fs",
          "transcript": "ENST00000878345.1",
          "protein_id": "ENSP00000548404.1",
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000878345.1"
        },
        {
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          "protein_coding": true,
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          "consequences": [
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          ],
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          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PCCB",
          "gene_hgnc_id": 8654,
          "hgvs_c": "c.726_727dupCC",
          "hgvs_p": "p.Leu243fs",
          "transcript": "ENST00000878353.1",
          "protein_id": "ENSP00000548412.1",
          "transcript_support_level": null,
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          "cds_start": 728,
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          "cds_length": 1509,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000878353.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "P?",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PCCB",
          "gene_hgnc_id": 8654,
          "hgvs_c": "c.723_724dupCC",
          "hgvs_p": "p.Leu242fs",
          "transcript": "ENST00000954229.1",
          "protein_id": "ENSP00000624288.1",
          "transcript_support_level": null,
          "aa_start": 242,
          "aa_end": null,
          "aa_length": 501,
          "cds_start": 725,
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          "cds_length": 1506,
          "cdna_start": null,
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}