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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: X-48476947-A-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=48476947&ref=A&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "X",
      "pos": 48476947,
      "ref": "A",
      "alt": "G",
      "effect": "intron_variant",
      "transcript": "NM_001441197.1",
      "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": 13,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "FTSJ1",
          "gene_hgnc_id": 13254,
          "hgvs_c": "c.-88+551A>G",
          "hgvs_p": null,
          "transcript": "NM_012280.4",
          "protein_id": "NP_036412.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 329,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 990,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000348411.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_012280.4"
        },
        {
          "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": 13,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "FTSJ1",
          "gene_hgnc_id": 13254,
          "hgvs_c": "c.-88+551A>G",
          "hgvs_p": null,
          "transcript": "ENST00000348411.3",
          "protein_id": "ENSP00000326948.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 329,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 990,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_012280.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000348411.3"
        },
        {
          "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": 11,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "FTSJ1",
          "gene_hgnc_id": 13254,
          "hgvs_c": "c.-88+551A>G",
          "hgvs_p": null,
          "transcript": "NM_001441197.1",
          "protein_id": "NP_001428126.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 337,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1014,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001441197.1"
        },
        {
          "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": 12,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "FTSJ1",
          "gene_hgnc_id": 13254,
          "hgvs_c": "c.-88+279A>G",
          "hgvs_p": null,
          "transcript": "NM_001441198.1",
          "protein_id": "NP_001428127.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 337,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1014,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001441198.1"
        },
        {
          "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": 11,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "FTSJ1",
          "gene_hgnc_id": 13254,
          "hgvs_c": "c.-88+551A>G",
          "hgvs_p": null,
          "transcript": "NM_001441199.1",
          "protein_id": "NP_001428128.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 335,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1008,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001441199.1"
        },
        {
          "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": 12,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "FTSJ1",
          "gene_hgnc_id": 13254,
          "hgvs_c": "c.-88+279A>G",
          "hgvs_p": null,
          "transcript": "NM_001441200.1",
          "protein_id": "NP_001428129.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 335,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1008,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001441200.1"
        },
        {
          "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": 14,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "FTSJ1",
          "gene_hgnc_id": 13254,
          "hgvs_c": "c.-88+279A>G",
          "hgvs_p": null,
          "transcript": "NM_001441195.1",
          "protein_id": "NP_001428124.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 329,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 990,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001441195.1"
        },
        {
          "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": 14,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "FTSJ1",
          "gene_hgnc_id": 13254,
          "hgvs_c": "c.-88+279A>G",
          "hgvs_p": null,
          "transcript": "ENST00000898808.1",
          "protein_id": "ENSP00000568867.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 329,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 990,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000898808.1"
        },
        {
          "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": 13,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "FTSJ1",
          "gene_hgnc_id": 13254,
          "hgvs_c": "c.-86+551A>G",
          "hgvs_p": null,
          "transcript": "ENST00000898812.1",
          "protein_id": "ENSP00000568871.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 329,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 990,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000898812.1"
        },
        {
          "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": 13,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "FTSJ1",
          "gene_hgnc_id": 13254,
          "hgvs_c": "c.-114+551A>G",
          "hgvs_p": null,
          "transcript": "ENST00000898815.1",
          "protein_id": "ENSP00000568874.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 329,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 990,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000898815.1"
        },
        {
          "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": 13,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "FTSJ1",
          "gene_hgnc_id": 13254,
          "hgvs_c": "c.-88+279A>G",
          "hgvs_p": null,
          "transcript": "ENST00000898816.1",
          "protein_id": "ENSP00000568875.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 329,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 990,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000898816.1"
        },
        {
          "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": 13,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "FTSJ1",
          "gene_hgnc_id": 13254,
          "hgvs_c": "c.-88+551A>G",
          "hgvs_p": null,
          "transcript": "ENST00000918484.1",
          "protein_id": "ENSP00000588543.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 329,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 990,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000918484.1"
        },
        {
          "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": 14,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "FTSJ1",
          "gene_hgnc_id": 13254,
          "hgvs_c": "c.-86+279A>G",
          "hgvs_p": null,
          "transcript": "ENST00000951062.1",
          "protein_id": "ENSP00000621121.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 329,
          "cds_start": null,
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          "cds_length": 990,
          "cdna_start": null,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000951062.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "FTSJ1",
          "gene_hgnc_id": 13254,
          "hgvs_c": "c.-88+551A>G",
          "hgvs_p": null,
          "transcript": "ENST00000951064.1",
          "protein_id": "ENSP00000621123.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 329,
          "cds_start": null,
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          "cds_length": 990,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000951064.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
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          ],
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          "intron_rank": 1,
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          "gene_symbol": "FTSJ1",
          "gene_hgnc_id": 13254,
          "hgvs_c": "c.-88+551A>G",
          "hgvs_p": null,
          "transcript": "ENST00000951065.1",
          "protein_id": "ENSP00000621124.1",
          "transcript_support_level": null,
          "aa_start": 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": "ENST00000951065.1"
        },
        {
          "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": 14,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "FTSJ1",
          "gene_hgnc_id": 13254,
          "hgvs_c": "c.-88+279A>G",
          "hgvs_p": null,
          "transcript": "ENST00000951066.1",
          "protein_id": "ENSP00000621125.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 329,
          "cds_start": null,
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          "cds_length": 990,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000951066.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "FTSJ1",
          "gene_hgnc_id": 13254,
          "hgvs_c": "c.-88+551A>G",
          "hgvs_p": null,
          "transcript": "NM_001441196.1",
          "protein_id": "NP_001428125.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 327,
          "cds_start": null,
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          "cds_length": 984,
          "cdna_start": null,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001441196.1"
        },
        {
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          "protein_coding": true,
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          ],
          "exon_rank": null,
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          "exon_count": 14,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "FTSJ1",
          "gene_hgnc_id": 13254,
          "hgvs_c": "c.-88+279A>G",
          "hgvs_p": null,
          "transcript": "NM_177439.3",
          "protein_id": "NP_803188.1",
          "transcript_support_level": null,
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          "cds_start": null,
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          "cdna_start": null,
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          "biotype": "protein_coding",
          "feature": "NM_177439.3"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 14,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "FTSJ1",
          "gene_hgnc_id": 13254,
          "hgvs_c": "c.-88+279A>G",
          "hgvs_p": null,
          "transcript": "ENST00000019019.6",
          "protein_id": "ENSP00000019019.2",
          "transcript_support_level": 2,
          "aa_start": null,
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          "aa_length": 327,
          "cds_start": null,
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          "cds_length": 984,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000019019.6"
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "FTSJ1",
          "gene_hgnc_id": 13254,
          "hgvs_c": "c.-88+551A>G",
          "hgvs_p": null,
          "transcript": "ENST00000898817.1",
          "protein_id": "ENSP00000568876.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 327,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 984,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000898817.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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