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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: 9-35074164-G-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=35074164&ref=G&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "9",
      "pos": 35074164,
      "ref": "G",
      "alt": "C",
      "effect": "missense_variant",
      "transcript": "NM_004629.2",
      "consequences": [
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCG",
          "gene_hgnc_id": 3588,
          "hgvs_c": "c.1813C>G",
          "hgvs_p": "p.Arg605Gly",
          "transcript": "NM_004629.2",
          "protein_id": "NP_004620.1",
          "transcript_support_level": null,
          "aa_start": 605,
          "aa_end": null,
          "aa_length": 622,
          "cds_start": 1813,
          "cds_end": null,
          "cds_length": 1869,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000378643.8",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_004629.2"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCG",
          "gene_hgnc_id": 3588,
          "hgvs_c": "c.1813C>G",
          "hgvs_p": "p.Arg605Gly",
          "transcript": "ENST00000378643.8",
          "protein_id": "ENSP00000367910.4",
          "transcript_support_level": 1,
          "aa_start": 605,
          "aa_end": null,
          "aa_length": 622,
          "cds_start": 1813,
          "cds_end": null,
          "cds_length": 1869,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_004629.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000378643.8"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCG",
          "gene_hgnc_id": 3588,
          "hgvs_c": "n.*1289C>G",
          "hgvs_p": null,
          "transcript": "ENST00000425676.5",
          "protein_id": "ENSP00000412793.1",
          "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": "nonsense_mediated_decay",
          "feature": "ENST00000425676.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000288699",
          "gene_hgnc_id": null,
          "hgvs_c": "n.10C>G",
          "hgvs_p": null,
          "transcript": "ENST00000681845.1",
          "protein_id": "ENSP00000505452.1",
          "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": "nonsense_mediated_decay",
          "feature": "ENST00000681845.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCG",
          "gene_hgnc_id": 3588,
          "hgvs_c": "n.*1289C>G",
          "hgvs_p": null,
          "transcript": "ENST00000425676.5",
          "protein_id": "ENSP00000412793.1",
          "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": "nonsense_mediated_decay",
          "feature": "ENST00000425676.5"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCG",
          "gene_hgnc_id": 3588,
          "hgvs_c": "c.1813C>G",
          "hgvs_p": "p.Arg605Gly",
          "transcript": "ENST00000448890.2",
          "protein_id": "ENSP00000409607.2",
          "transcript_support_level": 3,
          "aa_start": 605,
          "aa_end": null,
          "aa_length": 622,
          "cds_start": 1813,
          "cds_end": null,
          "cds_length": 1869,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000448890.2"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCG",
          "gene_hgnc_id": 3588,
          "hgvs_c": "c.1810C>G",
          "hgvs_p": "p.Arg604Gly",
          "transcript": "ENST00000881804.1",
          "protein_id": "ENSP00000551863.1",
          "transcript_support_level": null,
          "aa_start": 604,
          "aa_end": null,
          "aa_length": 621,
          "cds_start": 1810,
          "cds_end": null,
          "cds_length": 1866,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000881804.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCG",
          "gene_hgnc_id": 3588,
          "hgvs_c": "c.1807C>G",
          "hgvs_p": "p.Arg603Gly",
          "transcript": "ENST00000696710.1",
          "protein_id": "ENSP00000512826.1",
          "transcript_support_level": null,
          "aa_start": 603,
          "aa_end": null,
          "aa_length": 620,
          "cds_start": 1807,
          "cds_end": null,
          "cds_length": 1863,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000696710.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCG",
          "gene_hgnc_id": 3588,
          "hgvs_c": "c.1804C>G",
          "hgvs_p": "p.Arg602Gly",
          "transcript": "ENST00000938586.1",
          "protein_id": "ENSP00000608645.1",
          "transcript_support_level": null,
          "aa_start": 602,
          "aa_end": null,
          "aa_length": 619,
          "cds_start": 1804,
          "cds_end": null,
          "cds_length": 1860,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000938586.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCG",
          "gene_hgnc_id": 3588,
          "hgvs_c": "c.1795C>G",
          "hgvs_p": "p.Arg599Gly",
          "transcript": "ENST00000960438.1",
          "protein_id": "ENSP00000630497.1",
          "transcript_support_level": null,
          "aa_start": 599,
          "aa_end": null,
          "aa_length": 616,
          "cds_start": 1795,
          "cds_end": null,
          "cds_length": 1851,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000960438.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCG",
          "gene_hgnc_id": 3588,
          "hgvs_c": "c.1792C>G",
          "hgvs_p": "p.Arg598Gly",
          "transcript": "ENST00000881805.1",
          "protein_id": "ENSP00000551864.1",
          "transcript_support_level": null,
          "aa_start": 598,
          "aa_end": null,
          "aa_length": 615,
          "cds_start": 1792,
          "cds_end": null,
          "cds_length": 1848,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000881805.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCG",
          "gene_hgnc_id": 3588,
          "hgvs_c": "c.1792C>G",
          "hgvs_p": "p.Arg598Gly",
          "transcript": "ENST00000960443.1",
          "protein_id": "ENSP00000630502.1",
          "transcript_support_level": null,
          "aa_start": 598,
          "aa_end": null,
          "aa_length": 615,
          "cds_start": 1792,
          "cds_end": null,
          "cds_length": 1848,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000960443.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCG",
          "gene_hgnc_id": 3588,
          "hgvs_c": "c.1702C>G",
          "hgvs_p": "p.Arg568Gly",
          "transcript": "ENST00000881807.1",
          "protein_id": "ENSP00000551866.1",
          "transcript_support_level": null,
          "aa_start": 568,
          "aa_end": null,
          "aa_length": 585,
          "cds_start": 1702,
          "cds_end": null,
          "cds_length": 1758,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000881807.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCG",
          "gene_hgnc_id": 3588,
          "hgvs_c": "c.1669C>G",
          "hgvs_p": "p.Arg557Gly",
          "transcript": "ENST00000960441.1",
          "protein_id": "ENSP00000630500.1",
          "transcript_support_level": null,
          "aa_start": 557,
          "aa_end": null,
          "aa_length": 574,
          "cds_start": 1669,
          "cds_end": null,
          "cds_length": 1725,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000960441.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCG",
          "gene_hgnc_id": 3588,
          "hgvs_c": "c.1666C>G",
          "hgvs_p": "p.Arg556Gly",
          "transcript": "ENST00000881806.1",
          "protein_id": "ENSP00000551865.1",
          "transcript_support_level": null,
          "aa_start": 556,
          "aa_end": null,
          "aa_length": 573,
          "cds_start": 1666,
          "cds_end": null,
          "cds_length": 1722,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000881806.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCG",
          "gene_hgnc_id": 3588,
          "hgvs_c": "c.1657C>G",
          "hgvs_p": "p.Arg553Gly",
          "transcript": "ENST00000960439.1",
          "protein_id": "ENSP00000630498.1",
          "transcript_support_level": null,
          "aa_start": 553,
          "aa_end": null,
          "aa_length": 570,
          "cds_start": 1657,
          "cds_end": null,
          "cds_length": 1713,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000960439.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCG",
          "gene_hgnc_id": 3588,
          "hgvs_c": "c.1639C>G",
          "hgvs_p": "p.Arg547Gly",
          "transcript": "ENST00000960442.1",
          "protein_id": "ENSP00000630501.1",
          "transcript_support_level": null,
          "aa_start": 547,
          "aa_end": null,
          "aa_length": 564,
          "cds_start": 1639,
          "cds_end": null,
          "cds_length": 1695,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000960442.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCG",
          "gene_hgnc_id": 3588,
          "hgvs_c": "c.1291C>G",
          "hgvs_p": "p.Arg431Gly",
          "transcript": "ENST00000960440.1",
          "protein_id": "ENSP00000630499.1",
          "transcript_support_level": null,
          "aa_start": 431,
          "aa_end": null,
          "aa_length": 448,
          "cds_start": 1291,
          "cds_end": null,
          "cds_length": 1347,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000960440.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCG",
          "gene_hgnc_id": 3588,
          "hgvs_c": "c.*203C>G",
          "hgvs_p": null,
          "transcript": "ENST00000696715.1",
          "protein_id": "ENSP00000512828.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 587,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1764,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000696715.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCG",
          "gene_hgnc_id": 3588,
          "hgvs_c": "n.3787C>G",
          "hgvs_p": null,
          "transcript": "ENST00000461149.2",
          "protein_id": null,
          "transcript_support_level": 2,
          "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": "ENST00000461149.2"
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      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
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}