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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: 3-195752385-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=195752385&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "3",
      "pos": 195752385,
      "ref": "T",
      "alt": "C",
      "effect": "synonymous_variant",
      "transcript": "ENST00000463781.8",
      "consequences": [
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MUC4",
          "gene_hgnc_id": 7514,
          "hgvs_c": "c.15570A>G",
          "hgvs_p": "p.Glu5190Glu",
          "transcript": "NM_018406.7",
          "protein_id": "NP_060876.5",
          "transcript_support_level": null,
          "aa_start": 5190,
          "aa_end": null,
          "aa_length": 5412,
          "cds_start": 15570,
          "cds_end": null,
          "cds_length": 16239,
          "cdna_start": 15682,
          "cdna_end": null,
          "cdna_length": 16756,
          "mane_select": "ENST00000463781.8",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MUC4",
          "gene_hgnc_id": 7514,
          "hgvs_c": "c.15570A>G",
          "hgvs_p": "p.Glu5190Glu",
          "transcript": "ENST00000463781.8",
          "protein_id": "ENSP00000417498.3",
          "transcript_support_level": 5,
          "aa_start": 5190,
          "aa_end": null,
          "aa_length": 5412,
          "cds_start": 15570,
          "cds_end": null,
          "cds_length": 16239,
          "cdna_start": 15682,
          "cdna_end": null,
          "cdna_length": 16756,
          "mane_select": "NM_018406.7",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MUC4",
          "gene_hgnc_id": 7514,
          "hgvs_c": "c.2862A>G",
          "hgvs_p": "p.Glu954Glu",
          "transcript": "ENST00000346145.8",
          "protein_id": "ENSP00000304207.6",
          "transcript_support_level": 1,
          "aa_start": 954,
          "aa_end": null,
          "aa_length": 1176,
          "cds_start": 2862,
          "cds_end": null,
          "cds_length": 3531,
          "cdna_start": 2902,
          "cdna_end": null,
          "cdna_length": 3982,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MUC4",
          "gene_hgnc_id": 7514,
          "hgvs_c": "c.2709A>G",
          "hgvs_p": "p.Glu903Glu",
          "transcript": "ENST00000349607.8",
          "protein_id": "ENSP00000338109.4",
          "transcript_support_level": 1,
          "aa_start": 903,
          "aa_end": null,
          "aa_length": 1125,
          "cds_start": 2709,
          "cds_end": null,
          "cds_length": 3378,
          "cdna_start": 2749,
          "cdna_end": null,
          "cdna_length": 3829,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MUC4",
          "gene_hgnc_id": 7514,
          "hgvs_c": "n.*2202A>G",
          "hgvs_p": null,
          "transcript": "ENST00000308466.12",
          "protein_id": "ENSP00000310528.8",
          "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": 3806,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MUC4",
          "gene_hgnc_id": 7514,
          "hgvs_c": "n.*2263A>G",
          "hgvs_p": null,
          "transcript": "ENST00000339251.9",
          "protein_id": "ENSP00000345378.5",
          "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": 3777,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MUC4",
          "gene_hgnc_id": 7514,
          "hgvs_c": "n.*2131A>G",
          "hgvs_p": null,
          "transcript": "ENST00000392407.6",
          "protein_id": "ENSP00000376208.2",
          "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": 3645,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MUC4",
          "gene_hgnc_id": 7514,
          "hgvs_c": "n.*2202A>G",
          "hgvs_p": null,
          "transcript": "ENST00000415455.5",
          "protein_id": "ENSP00000407750.1",
          "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": 3716,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MUC4",
          "gene_hgnc_id": 7514,
          "hgvs_c": "n.*2370A>G",
          "hgvs_p": null,
          "transcript": "ENST00000448861.5",
          "protein_id": "ENSP00000389780.1",
          "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": 3944,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MUC4",
          "gene_hgnc_id": 7514,
          "hgvs_c": "n.*2202A>G",
          "hgvs_p": null,
          "transcript": "ENST00000308466.12",
          "protein_id": "ENSP00000310528.8",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
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          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 3806,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
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          "gene_symbol": "MUC4",
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          "hgvs_c": "n.*2263A>G",
          "hgvs_p": null,
          "transcript": "ENST00000339251.9",
          "protein_id": "ENSP00000345378.5",
          "transcript_support_level": 1,
          "aa_start": null,
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          "aa_length": null,
          "cds_start": -4,
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          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 3777,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
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          "gene_symbol": "MUC4",
          "gene_hgnc_id": 7514,
          "hgvs_c": "n.*2131A>G",
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          "transcript": "ENST00000392407.6",
          "protein_id": "ENSP00000376208.2",
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        {
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          "strand": false,
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          ],
          "exon_rank": 19,
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          "exon_count": 23,
          "intron_rank": null,
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          "gene_symbol": "MUC4",
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          "hgvs_c": "n.*2202A>G",
          "hgvs_p": null,
          "transcript": "ENST00000415455.5",
          "protein_id": "ENSP00000407750.1",
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        {
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            "3_prime_UTR_variant"
          ],
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          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
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          "gene_symbol": "MUC4",
          "gene_hgnc_id": 7514,
          "hgvs_c": "n.*2370A>G",
          "hgvs_p": null,
          "transcript": "ENST00000448861.5",
          "protein_id": "ENSP00000389780.1",
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          "mane_select": null,
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          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 20,
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          "intron_rank": null,
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          "gene_symbol": "MUC4",
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          "hgvs_c": "c.15414A>G",
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          "transcript": "ENST00000475231.5",
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        {
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          "consequences": [
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          ],
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          "intron_rank": null,
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          "gene_symbol": "MUC4",
          "gene_hgnc_id": 7514,
          "hgvs_c": "c.2862A>G",
          "hgvs_p": "p.Glu954Glu",
          "transcript": "NM_004532.6",
          "protein_id": "NP_004523.3",
          "transcript_support_level": null,
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        {
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          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
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          "gene_symbol": "MUC4",
          "gene_hgnc_id": 7514,
          "hgvs_c": "c.2709A>G",
          "hgvs_p": "p.Glu903Glu",
          "transcript": "NM_138297.5",
          "protein_id": "NP_612154.2",
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        },
        {
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          "consequences": [
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          ],
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          "intron_rank": null,
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          "gene_symbol": "MUC4",
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          "hgvs_c": "n.*2009A>G",
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          ],
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          "exon_count": 6,
          "intron_rank": null,
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          "gene_symbol": "MUC4",
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          "hgvs_c": "n.1006A>G",
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        {
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          "strand": false,
          "consequences": [
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          ],
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          "exon_count": 25,
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          "gene_symbol": "MUC4",
          "gene_hgnc_id": 7514,
          "hgvs_c": "n.*2291A>G",
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          "transcript": "ENST00000466475.5",
          "protein_id": "ENSP00000417722.1",
          "transcript_support_level": 5,
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          "cdna_length": 16443,
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        },
        {
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MUC4",
          "gene_hgnc_id": 7514,
          "hgvs_c": "n.136A>G",
          "hgvs_p": null,
          "transcript": "ENST00000467235.1",
          "protein_id": null,
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}