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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: 5-151664080-C-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=151664080&ref=C&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "5",
      "pos": 151664080,
      "ref": "C",
      "alt": "G",
      "effect": "splice_region_variant,intron_variant",
      "transcript": "NM_001309444.2",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "SPARC",
          "gene_hgnc_id": 11219,
          "hgvs_c": "c.883+7G>C",
          "hgvs_p": null,
          "transcript": "NM_003118.4",
          "protein_id": "NP_003109.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 303,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 912,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000231061.9",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_003118.4"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "SPARC",
          "gene_hgnc_id": 11219,
          "hgvs_c": "c.883+7G>C",
          "hgvs_p": null,
          "transcript": "ENST00000231061.9",
          "protein_id": "ENSP00000231061.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 303,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 912,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_003118.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000231061.9"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "SPARC",
          "gene_hgnc_id": 11219,
          "hgvs_c": "c.883+7G>C",
          "hgvs_p": null,
          "transcript": "NM_001309444.2",
          "protein_id": "NP_001296373.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 341,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1026,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001309444.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "SPARC",
          "gene_hgnc_id": 11219,
          "hgvs_c": "c.883+7G>C",
          "hgvs_p": null,
          "transcript": "ENST00000896427.1",
          "protein_id": "ENSP00000566486.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 303,
          "cds_start": null,
          "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": "ENST00000896427.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "SPARC",
          "gene_hgnc_id": 11219,
          "hgvs_c": "c.883+7G>C",
          "hgvs_p": null,
          "transcript": "ENST00000896428.1",
          "protein_id": "ENSP00000566487.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 303,
          "cds_start": null,
          "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": "ENST00000896428.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "SPARC",
          "gene_hgnc_id": 11219,
          "hgvs_c": "c.883+7G>C",
          "hgvs_p": null,
          "transcript": "ENST00000896430.1",
          "protein_id": "ENSP00000566489.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 303,
          "cds_start": null,
          "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": "ENST00000896430.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "SPARC",
          "gene_hgnc_id": 11219,
          "hgvs_c": "c.883+7G>C",
          "hgvs_p": null,
          "transcript": "ENST00000896435.1",
          "protein_id": "ENSP00000566494.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 303,
          "cds_start": null,
          "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": "ENST00000896435.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "SPARC",
          "gene_hgnc_id": 11219,
          "hgvs_c": "c.883+7G>C",
          "hgvs_p": null,
          "transcript": "ENST00000896436.1",
          "protein_id": "ENSP00000566495.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 303,
          "cds_start": null,
          "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": "ENST00000896436.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "SPARC",
          "gene_hgnc_id": 11219,
          "hgvs_c": "c.883+7G>C",
          "hgvs_p": null,
          "transcript": "ENST00000896437.1",
          "protein_id": "ENSP00000566496.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 303,
          "cds_start": null,
          "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": "ENST00000896437.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "SPARC",
          "gene_hgnc_id": 11219,
          "hgvs_c": "c.883+7G>C",
          "hgvs_p": null,
          "transcript": "ENST00000896442.1",
          "protein_id": "ENSP00000566501.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 303,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 912,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
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        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "SPARC",
          "gene_hgnc_id": 11219,
          "hgvs_c": "c.883+7G>C",
          "hgvs_p": null,
          "transcript": "ENST00000896443.1",
          "protein_id": "ENSP00000566502.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 303,
          "cds_start": null,
          "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": "ENST00000896443.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 10,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "SPARC",
          "gene_hgnc_id": 11219,
          "hgvs_c": "c.883+7G>C",
          "hgvs_p": null,
          "transcript": "ENST00000896444.1",
          "protein_id": "ENSP00000566503.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 303,
          "cds_start": null,
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          "cdna_start": null,
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          "cdna_length": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
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          "exon_count": 9,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "SPARC",
          "gene_hgnc_id": 11219,
          "hgvs_c": "c.883+7G>C",
          "hgvs_p": null,
          "transcript": "ENST00000896445.1",
          "protein_id": "ENSP00000566504.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 303,
          "cds_start": null,
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          "cds_length": 912,
          "cdna_start": null,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000896445.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "SPARC",
          "gene_hgnc_id": 11219,
          "hgvs_c": "c.883+7G>C",
          "hgvs_p": null,
          "transcript": "ENST00000951380.1",
          "protein_id": "ENSP00000621439.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": null,
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        },
        {
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          "canonical": false,
          "protein_coding": true,
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          "consequences": [
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            "intron_variant"
          ],
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          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "SPARC",
          "gene_hgnc_id": 11219,
          "hgvs_c": "c.883+7G>C",
          "hgvs_p": null,
          "transcript": "ENST00000951383.1",
          "protein_id": "ENSP00000621442.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 303,
          "cds_start": 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": "ENST00000951383.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "SPARC",
          "gene_hgnc_id": 11219,
          "hgvs_c": "c.883+7G>C",
          "hgvs_p": null,
          "transcript": "ENST00000951384.1",
          "protein_id": "ENSP00000621443.1",
          "transcript_support_level": null,
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          "cds_start": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000951384.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "SPARC",
          "gene_hgnc_id": 11219,
          "hgvs_c": "c.880+7G>C",
          "hgvs_p": null,
          "transcript": "NM_001309443.2",
          "protein_id": "NP_001296372.1",
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          "cdna_start": null,
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          "biotype": "protein_coding",
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        {
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          "protein_coding": true,
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          ],
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          "intron_rank": 9,
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          "gene_symbol": "SPARC",
          "gene_hgnc_id": 11219,
          "hgvs_c": "c.880+7G>C",
          "hgvs_p": null,
          "transcript": "ENST00000896429.1",
          "protein_id": "ENSP00000566488.1",
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          "cds_start": null,
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        {
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          "strand": false,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
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          "exon_count": 9,
          "intron_rank": 8,
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          "gene_symbol": "SPARC",
          "gene_hgnc_id": 11219,
          "hgvs_c": "c.880+7G>C",
          "hgvs_p": null,
          "transcript": "ENST00000896446.1",
          "protein_id": "ENSP00000566505.1",
          "transcript_support_level": null,
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          "cds_start": null,
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          "cds_length": 909,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000896446.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "SPARC",
          "gene_hgnc_id": 11219,
          "hgvs_c": "c.880+7G>C",
          "hgvs_p": null,
          "transcript": "ENST00000951378.1",
          "protein_id": "ENSP00000621437.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 302,
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}