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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: 9-35808337-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=35808337&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "9",
      "pos": 35808337,
      "ref": "C",
      "alt": "T",
      "effect": "intron_variant",
      "transcript": "NM_003995.4",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": 18,
          "intron_rank_end": null,
          "gene_symbol": "NPR2",
          "gene_hgnc_id": 7944,
          "hgvs_c": "c.2713-172C>T",
          "hgvs_p": null,
          "transcript": "NM_003995.4",
          "protein_id": "NP_003986.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1047,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3144,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4248,
          "mane_select": "ENST00000342694.7",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": 18,
          "intron_rank_end": null,
          "gene_symbol": "NPR2",
          "gene_hgnc_id": 7944,
          "hgvs_c": "c.2713-172C>T",
          "hgvs_p": null,
          "transcript": "ENST00000342694.7",
          "protein_id": "ENSP00000341083.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1047,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3144,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4248,
          "mane_select": "NM_003995.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 8,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "SPAG8",
          "gene_hgnc_id": 14105,
          "hgvs_c": "c.1373-31G>A",
          "hgvs_p": null,
          "transcript": "ENST00000340291.6",
          "protein_id": "ENSP00000340982.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 501,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1506,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1759,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "SPAG8",
          "gene_hgnc_id": 14105,
          "hgvs_c": "n.*826-31G>A",
          "hgvs_p": null,
          "transcript": "ENST00000475644.5",
          "protein_id": "ENSP00000418530.1",
          "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": 2481,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": 17,
          "intron_rank_end": null,
          "gene_symbol": "NPR2",
          "gene_hgnc_id": 7944,
          "hgvs_c": "c.2872-172C>T",
          "hgvs_p": null,
          "transcript": "ENST00000687787.1",
          "protein_id": "ENSP00000509440.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1100,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3303,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3561,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": 18,
          "intron_rank_end": null,
          "gene_symbol": "NPR2",
          "gene_hgnc_id": 7944,
          "hgvs_c": "c.2803-172C>T",
          "hgvs_p": null,
          "transcript": "ENST00000693094.1",
          "protein_id": "ENSP00000510161.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1077,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3234,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3485,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": 16,
          "intron_rank_end": null,
          "gene_symbol": "NPR2",
          "gene_hgnc_id": 7944,
          "hgvs_c": "c.2797-172C>T",
          "hgvs_p": null,
          "transcript": "ENST00000690070.1",
          "protein_id": "ENSP00000509654.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1075,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3228,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3486,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": 18,
          "intron_rank_end": null,
          "gene_symbol": "NPR2",
          "gene_hgnc_id": 7944,
          "hgvs_c": "c.2722-172C>T",
          "hgvs_p": null,
          "transcript": "NM_001378923.1",
          "protein_id": "NP_001365852.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1050,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3153,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4257,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": 17,
          "intron_rank_end": null,
          "gene_symbol": "NPR2",
          "gene_hgnc_id": 7944,
          "hgvs_c": "c.2641-172C>T",
          "hgvs_p": null,
          "transcript": "ENST00000685871.1",
          "protein_id": "ENSP00000509964.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1023,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3072,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3410,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": 16,
          "intron_rank_end": null,
          "gene_symbol": "NPR2",
          "gene_hgnc_id": 7944,
          "hgvs_c": "c.2566-172C>T",
          "hgvs_p": null,
          "transcript": "ENST00000687357.1",
          "protein_id": "ENSP00000509549.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 998,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2997,
          "cdna_start": null,
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          "cdna_length": 3255,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 7,
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          "gene_symbol": "SPAG8",
          "gene_hgnc_id": 14105,
          "hgvs_c": "c.1373-31G>A",
          "hgvs_p": null,
          "transcript": "NM_172312.2",
          "protein_id": "NP_758516.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 501,
          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 2009,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "SPAG8",
          "gene_hgnc_id": 14105,
          "hgvs_c": "c.1201-31G>A",
          "hgvs_p": null,
          "transcript": "NM_001366760.2",
          "protein_id": "NP_001353689.1",
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          "aa_start": null,
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          "aa_length": 406,
          "cds_start": -4,
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        },
        {
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          "canonical": false,
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          "consequences": [
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          "exon_count": 10,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "NPR2",
          "gene_hgnc_id": 7944,
          "hgvs_c": "c.751-172C>T",
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          "transcript": "ENST00000421267.6",
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          "cds_start": -4,
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          "mane_select": null,
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        {
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          "intron_rank": 18,
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          "gene_symbol": "NPR2",
          "gene_hgnc_id": 7944,
          "hgvs_c": "n.2713-418C>T",
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          "transcript": "ENST00000448821.6",
          "protein_id": "ENSP00000402902.2",
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          "mane_select": null,
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        {
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        {
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          "gene_symbol": "SPAG8",
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          "hgvs_c": "n.467-31G>A",
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          "transcript": "ENST00000463889.5",
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        {
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          "exon_count": 21,
          "intron_rank": 18,
          "intron_rank_end": null,
          "gene_symbol": "NPR2",
          "gene_hgnc_id": 7944,
          "hgvs_c": "n.2713-172C>T",
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          "transcript": "ENST00000464810.5",
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        {
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          "consequences": [
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          ],
          "exon_rank": null,
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          "intron_rank": 1,
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          "gene_symbol": "SPAG8",
          "gene_hgnc_id": 14105,
          "hgvs_c": "n.475-31G>A",
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          "hgvs_c": "n.2752-172C>T",
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          "gene_symbol": "NPR2",
          "gene_hgnc_id": 7944,
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        {
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": 17,
          "intron_rank_end": null,
          "gene_symbol": "NPR2",
          "gene_hgnc_id": 7944,
          "hgvs_c": "n.2827-172C>T",
          "hgvs_p": null,
          "transcript": "ENST00000687302.1",
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