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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: 16-16007985-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=16007985&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "16",
      "pos": 16007985,
      "ref": "C",
      "alt": "T",
      "effect": "missense_variant",
      "transcript": "ENST00000399410.8",
      "consequences": [
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABCC1",
          "gene_hgnc_id": 51,
          "hgvs_c": "c.218C>T",
          "hgvs_p": "p.Thr73Ile",
          "transcript": "NM_004996.4",
          "protein_id": "NP_004987.2",
          "transcript_support_level": null,
          "aa_start": 73,
          "aa_end": null,
          "aa_length": 1531,
          "cds_start": 218,
          "cds_end": null,
          "cds_length": 4596,
          "cdna_start": 354,
          "cdna_end": null,
          "cdna_length": 6504,
          "mane_select": "ENST00000399410.8",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABCC1",
          "gene_hgnc_id": 51,
          "hgvs_c": "c.218C>T",
          "hgvs_p": "p.Thr73Ile",
          "transcript": "ENST00000399410.8",
          "protein_id": "ENSP00000382342.3",
          "transcript_support_level": 1,
          "aa_start": 73,
          "aa_end": null,
          "aa_length": 1531,
          "cds_start": 218,
          "cds_end": null,
          "cds_length": 4596,
          "cdna_start": 354,
          "cdna_end": null,
          "cdna_length": 6504,
          "mane_select": "NM_004996.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABCC1",
          "gene_hgnc_id": 51,
          "hgvs_c": "c.218C>T",
          "hgvs_p": "p.Thr73Ile",
          "transcript": "ENST00000572882.3",
          "protein_id": "ENSP00000461615.2",
          "transcript_support_level": 1,
          "aa_start": 73,
          "aa_end": null,
          "aa_length": 1472,
          "cds_start": 218,
          "cds_end": null,
          "cds_length": 4419,
          "cdna_start": 393,
          "cdna_end": null,
          "cdna_length": 6387,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABCC1",
          "gene_hgnc_id": 51,
          "hgvs_c": "n.293C>T",
          "hgvs_p": null,
          "transcript": "ENST00000574224.2",
          "protein_id": null,
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2616,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABCC1",
          "gene_hgnc_id": 51,
          "hgvs_c": "c.218C>T",
          "hgvs_p": "p.Thr73Ile",
          "transcript": "ENST00000399408.7",
          "protein_id": "ENSP00000382340.4",
          "transcript_support_level": 5,
          "aa_start": 73,
          "aa_end": null,
          "aa_length": 1541,
          "cds_start": 218,
          "cds_end": null,
          "cds_length": 4626,
          "cdna_start": 393,
          "cdna_end": null,
          "cdna_length": 6594,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABCC1",
          "gene_hgnc_id": 51,
          "hgvs_c": "c.218C>T",
          "hgvs_p": "p.Thr73Ile",
          "transcript": "NM_019901.2",
          "protein_id": "NP_063956.2",
          "transcript_support_level": null,
          "aa_start": 73,
          "aa_end": null,
          "aa_length": 1489,
          "cds_start": 218,
          "cds_end": null,
          "cds_length": 4470,
          "cdna_start": 354,
          "cdna_end": null,
          "cdna_length": 6378,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABCC1",
          "gene_hgnc_id": 51,
          "hgvs_c": "c.218C>T",
          "hgvs_p": "p.Thr73Ile",
          "transcript": "NM_019902.2",
          "protein_id": "NP_063957.2",
          "transcript_support_level": null,
          "aa_start": 73,
          "aa_end": null,
          "aa_length": 1482,
          "cds_start": 218,
          "cds_end": null,
          "cds_length": 4449,
          "cdna_start": 354,
          "cdna_end": null,
          "cdna_length": 6357,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABCC1",
          "gene_hgnc_id": 51,
          "hgvs_c": "c.218C>T",
          "hgvs_p": "p.Thr73Ile",
          "transcript": "NM_019898.3",
          "protein_id": "NP_063953.2",
          "transcript_support_level": null,
          "aa_start": 73,
          "aa_end": null,
          "aa_length": 1475,
          "cds_start": 218,
          "cds_end": null,
          "cds_length": 4428,
          "cdna_start": 354,
          "cdna_end": null,
          "cdna_length": 6336,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABCC1",
          "gene_hgnc_id": 51,
          "hgvs_c": "c.218C>T",
          "hgvs_p": "p.Thr73Ile",
          "transcript": "NM_019862.3",
          "protein_id": "NP_063915.2",
          "transcript_support_level": null,
          "aa_start": 73,
          "aa_end": null,
          "aa_length": 1472,
          "cds_start": 218,
          "cds_end": null,
          "cds_length": 4419,
          "cdna_start": 354,
          "cdna_end": null,
          "cdna_length": 6327,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABCC1",
          "gene_hgnc_id": 51,
          "hgvs_c": "c.218C>T",
          "hgvs_p": "p.Thr73Ile",
          "transcript": "NM_001438755.1",
          "protein_id": "NP_001425684.1",
          "transcript_support_level": null,
          "aa_start": 73,
          "aa_end": null,
          "aa_length": 1466,
          "cds_start": 218,
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          "cds_length": 4401,
          "cdna_start": 354,
          "cdna_end": null,
          "cdna_length": 6309,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
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          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 2,
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          "exon_count": 29,
          "intron_rank": null,
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          "gene_symbol": "ABCC1",
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          "hgvs_c": "c.218C>T",
          "hgvs_p": "p.Thr73Ile",
          "transcript": "NM_001438715.1",
          "protein_id": "NP_001425644.1",
          "transcript_support_level": null,
          "aa_start": 73,
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          "cds_start": 218,
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          "cdna_start": 354,
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          "cdna_length": 6231,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
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          "gene_symbol": "ABCC1",
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        {
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          ],
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          "intron_rank": null,
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          "gene_symbol": "ABCC1",
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        {
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          "intron_rank": null,
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          "gene_symbol": "ABCC1",
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          "hgvs_c": "c.218C>T",
          "hgvs_p": "p.Thr73Ile",
          "transcript": "NM_001438718.1",
          "protein_id": "NP_001425647.1",
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        },
        {
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          ],
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        {
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          ],
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          "intron_rank": null,
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          "gene_symbol": "ABCC1",
          "gene_hgnc_id": 51,
          "hgvs_c": "c.218C>T",
          "hgvs_p": "p.Thr73Ile",
          "transcript": "ENST00000677164.1",
          "protein_id": "ENSP00000502873.1",
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        {
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          "intron_rank": null,
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          "gene_symbol": "ABCC1",
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          "hgvs_c": "c.218C>T",
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          "transcript": "NM_001438720.1",
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        },
        {
          "aa_ref": "T",
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          ],
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          "gene_symbol": "ABCC1",
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          "transcript": "XM_047434131.1",
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        {
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          ],
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          "intron_rank": null,
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          "gene_symbol": "ABCC1",
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          "hgvs_c": "c.272C>T",
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        },
        {
          "aa_ref": "T",
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          "strand": true,
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          ],
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          "gene_symbol": "ABCC1",
          "gene_hgnc_id": 51,
          "hgvs_c": "c.377C>T",
          "hgvs_p": "p.Thr126Ile",
          "transcript": "XM_047434132.1",
          "protein_id": "XP_047290088.1",
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          "cdna_start": 1774,
          "cdna_end": null,
          "cdna_length": 7798,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
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          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
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          "exon_count": 30,
          "intron_rank": null,
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          "gene_symbol": "ABCC1",
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          "hgvs_c": "c.377C>T",
          "hgvs_p": "p.Thr126Ile",
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}