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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: 14-51900357-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=51900357&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "14",
      "pos": 51900357,
      "ref": "C",
      "alt": "T",
      "effect": "intron_variant",
      "transcript": "ENST00000556766.6",
      "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": 4,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "GNG2",
          "gene_hgnc_id": 4404,
          "hgvs_c": "c.-30+22700C>T",
          "hgvs_p": null,
          "transcript": "NM_053064.5",
          "protein_id": "NP_444292.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 71,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 216,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3573,
          "mane_select": "ENST00000556766.6",
          "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": 4,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "GNG2",
          "gene_hgnc_id": 4404,
          "hgvs_c": "c.-30+22700C>T",
          "hgvs_p": null,
          "transcript": "ENST00000556766.6",
          "protein_id": "ENSP00000451231.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 71,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 216,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3573,
          "mane_select": "NM_053064.5",
          "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": 3,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "GNG2",
          "gene_hgnc_id": 4404,
          "hgvs_c": "c.-30+22700C>T",
          "hgvs_p": null,
          "transcript": "ENST00000556752.2",
          "protein_id": "ENSP00000451576.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 71,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 216,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3424,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "GNG2",
          "gene_hgnc_id": 4404,
          "hgvs_c": "n.387+22700C>T",
          "hgvs_p": null,
          "transcript": "ENST00000553299.5",
          "protein_id": null,
          "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": 1542,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_premature_start_codon_gain_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GNG2",
          "gene_hgnc_id": 4404,
          "hgvs_c": "c.-823C>T",
          "hgvs_p": null,
          "transcript": "XM_047431487.1",
          "protein_id": "XP_047287443.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 71,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 216,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6445,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_premature_start_codon_gain_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GNG2",
          "gene_hgnc_id": 4404,
          "hgvs_c": "c.-1134C>T",
          "hgvs_p": null,
          "transcript": "XM_047431488.1",
          "protein_id": "XP_047287444.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 71,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 216,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6756,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GNG2",
          "gene_hgnc_id": 4404,
          "hgvs_c": "c.-823C>T",
          "hgvs_p": null,
          "transcript": "XM_047431487.1",
          "protein_id": "XP_047287443.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 71,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 216,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6445,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GNG2",
          "gene_hgnc_id": 4404,
          "hgvs_c": "c.-1134C>T",
          "hgvs_p": null,
          "transcript": "XM_047431488.1",
          "protein_id": "XP_047287444.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 71,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 216,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6756,
          "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": 5,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "GNG2",
          "gene_hgnc_id": 4404,
          "hgvs_c": "c.89-50293C>T",
          "hgvs_p": null,
          "transcript": "ENST00000557376.5",
          "protein_id": "ENSP00000450758.1",
          "transcript_support_level": 4,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 110,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 333,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 573,
          "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": 4,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "GNG2",
          "gene_hgnc_id": 4404,
          "hgvs_c": "c.65-50293C>T",
          "hgvs_p": null,
          "transcript": "ENST00000553432.5",
          "protein_id": "ENSP00000451279.1",
          "transcript_support_level": 4,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 102,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 309,
          "cdna_start": null,
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          "cdna_length": 577,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
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          "strand": true,
          "consequences": [
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          ],
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          "exon_count": 4,
          "intron_rank": 2,
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          "gene_symbol": "GNG2",
          "gene_hgnc_id": 4404,
          "hgvs_c": "c.-30+22700C>T",
          "hgvs_p": null,
          "transcript": "NM_001243773.2",
          "protein_id": "NP_001230702.1",
          "transcript_support_level": null,
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          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 3569,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
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          "strand": true,
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          "exon_rank": null,
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          "exon_count": 3,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "GNG2",
          "gene_hgnc_id": 4404,
          "hgvs_c": "c.-30+39567C>T",
          "hgvs_p": null,
          "transcript": "NM_001243774.2",
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        {
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          "intron_rank": 3,
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          "gene_symbol": "GNG2",
          "gene_hgnc_id": 4404,
          "hgvs_c": "c.-30+22700C>T",
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        {
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          "gene_symbol": "GNG2",
          "gene_hgnc_id": 4404,
          "hgvs_c": "c.-30+22700C>T",
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          "transcript": "NM_001389708.1",
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          "mane_select": null,
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        {
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          "gene_symbol": "GNG2",
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          "gene_symbol": "GNG2",
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          "hgvs_c": "c.-30+22700C>T",
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          "transcript": "NM_001389710.1",
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          "intron_rank": 1,
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          "gene_symbol": "GNG2",
          "gene_hgnc_id": 4404,
          "hgvs_c": "c.-30+39567C>T",
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          "transcript": "ENST00000335281.8",
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        {
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          ],
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          "gene_symbol": "GNG2",
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          "gene_symbol": "GNG2",
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          "hgvs_c": "c.-149-12652C>T",
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          "gene_symbol": "GNG2",
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          "hgvs_c": "c.-341+22700C>T",
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          "mane_select": null,
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        },
        {
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          "canonical": false,
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          ],
          "exon_rank": null,
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          "exon_count": 4,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "GNG2",
          "gene_hgnc_id": 4404,
          "hgvs_c": "c.-30+22700C>T",
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          "transcript": "ENST00000553560.5",
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}