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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: 3-186933001-A-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=186933001&ref=A&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "3",
      "pos": 186933001,
      "ref": "A",
      "alt": "G",
      "effect": "intron_variant",
      "transcript": "NM_173216.2",
      "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": 8,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ST6GAL1",
          "gene_hgnc_id": 10860,
          "hgvs_c": "c.-325+2167A>G",
          "hgvs_p": null,
          "transcript": "NM_173216.2",
          "protein_id": "NP_775323.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 406,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1221,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000169298.8",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_173216.2"
        },
        {
          "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": 8,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ST6GAL1",
          "gene_hgnc_id": 10860,
          "hgvs_c": "c.-325+2167A>G",
          "hgvs_p": null,
          "transcript": "ENST00000169298.8",
          "protein_id": "ENSP00000169298.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 406,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1221,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_173216.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000169298.8"
        },
        {
          "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": 8,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ST6GAL1",
          "gene_hgnc_id": 10860,
          "hgvs_c": "c.-325+2167A>G",
          "hgvs_p": null,
          "transcript": "ENST00000912781.1",
          "protein_id": "ENSP00000582840.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 413,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1242,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000912781.1"
        },
        {
          "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": 10,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ST6GAL1",
          "gene_hgnc_id": 10860,
          "hgvs_c": "c.-489+2167A>G",
          "hgvs_p": null,
          "transcript": "ENST00000677292.1",
          "protein_id": "ENSP00000503457.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 406,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1221,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000677292.1"
        },
        {
          "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": 10,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ST6GAL1",
          "gene_hgnc_id": 10860,
          "hgvs_c": "c.-489+2561A>G",
          "hgvs_p": null,
          "transcript": "ENST00000879710.1",
          "protein_id": "ENSP00000549769.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 406,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1221,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000879710.1"
        },
        {
          "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": 9,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ST6GAL1",
          "gene_hgnc_id": 10860,
          "hgvs_c": "c.-580+2167A>G",
          "hgvs_p": null,
          "transcript": "ENST00000879711.1",
          "protein_id": "ENSP00000549770.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 406,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1221,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000879711.1"
        },
        {
          "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": 9,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ST6GAL1",
          "gene_hgnc_id": 10860,
          "hgvs_c": "c.-451+2167A>G",
          "hgvs_p": null,
          "transcript": "ENST00000879712.1",
          "protein_id": "ENSP00000549771.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 406,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1221,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000879712.1"
        },
        {
          "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": 8,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ST6GAL1",
          "gene_hgnc_id": 10860,
          "hgvs_c": "c.-325+2442A>G",
          "hgvs_p": null,
          "transcript": "ENST00000879713.1",
          "protein_id": "ENSP00000549772.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 406,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1221,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000879713.1"
        },
        {
          "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": 9,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ST6GAL1",
          "gene_hgnc_id": 10860,
          "hgvs_c": "c.-425+2167A>G",
          "hgvs_p": null,
          "transcript": "ENST00000879714.1",
          "protein_id": "ENSP00000549773.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 406,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1221,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000879714.1"
        },
        {
          "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": 9,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ST6GAL1",
          "gene_hgnc_id": 10860,
          "hgvs_c": "c.-422+2167A>G",
          "hgvs_p": null,
          "transcript": "ENST00000879715.1",
          "protein_id": "ENSP00000549774.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 406,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1221,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000879715.1"
        },
        {
          "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": 7,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ST6GAL1",
          "gene_hgnc_id": 10860,
          "hgvs_c": "c.-183+2167A>G",
          "hgvs_p": null,
          "transcript": "ENST00000879716.1",
          "protein_id": "ENSP00000549775.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 406,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1221,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000879716.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 9,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ST6GAL1",
          "gene_hgnc_id": 10860,
          "hgvs_c": "c.-409+2167A>G",
          "hgvs_p": null,
          "transcript": "ENST00000879717.1",
          "protein_id": "ENSP00000549776.1",
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          "aa_start": null,
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          "aa_length": 406,
          "cds_start": null,
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          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000879717.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 9,
          "intron_rank": 1,
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          "gene_symbol": "ST6GAL1",
          "gene_hgnc_id": 10860,
          "hgvs_c": "c.-457+2167A>G",
          "hgvs_p": null,
          "transcript": "ENST00000879718.1",
          "protein_id": "ENSP00000549777.1",
          "transcript_support_level": null,
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          "cds_start": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ST6GAL1",
          "gene_hgnc_id": 10860,
          "hgvs_c": "c.-453+2167A>G",
          "hgvs_p": null,
          "transcript": "ENST00000879719.1",
          "protein_id": "ENSP00000549778.1",
          "transcript_support_level": null,
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          "aa_length": 406,
          "cds_start": null,
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        {
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          "gene_symbol": "ST6GAL1",
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          "protein_id": "ENSP00000549779.1",
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        },
        {
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          "strand": true,
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          ],
          "exon_rank": null,
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          "exon_count": 10,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ST6GAL1",
          "gene_hgnc_id": 10860,
          "hgvs_c": "c.-607-405A>G",
          "hgvs_p": null,
          "transcript": "ENST00000879721.1",
          "protein_id": "ENSP00000549780.1",
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          "cds_start": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000879721.1"
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        {
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          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 8,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ST6GAL1",
          "gene_hgnc_id": 10860,
          "hgvs_c": "c.-315+2167A>G",
          "hgvs_p": null,
          "transcript": "ENST00000912779.1",
          "protein_id": "ENSP00000582838.1",
          "transcript_support_level": null,
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          "cdna_start": null,
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        },
        {
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          "exon_rank": null,
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          "intron_rank": 1,
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          "gene_symbol": "ST6GAL1",
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          "hgvs_c": "c.-193+2167A>G",
          "hgvs_p": null,
          "transcript": "ENST00000912780.1",
          "protein_id": "ENSP00000582839.1",
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        {
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          "protein_coding": true,
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          ],
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          "hgvs_c": "c.-660+2167A>G",
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          "transcript": "ENST00000912783.1",
          "protein_id": "ENSP00000582842.1",
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        },
        {
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          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 10,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ST6GAL1",
          "gene_hgnc_id": 10860,
          "hgvs_c": "c.-506+2442A>G",
          "hgvs_p": null,
          "transcript": "ENST00000955782.1",
          "protein_id": "ENSP00000625841.1",
          "transcript_support_level": null,
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          "aa_end": null,
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          "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": "ENST00000955782.1"
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
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