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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-2953224-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=2953224&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "X",
      "pos": 2953224,
      "ref": "C",
      "alt": "T",
      "effect": "missense_variant",
      "transcript": "ENST00000381134.9",
      "consequences": [
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARSL",
          "gene_hgnc_id": 719,
          "hgvs_c": "c.349G>A",
          "hgvs_p": "p.Gly117Arg",
          "transcript": "NM_000047.3",
          "protein_id": "NP_000038.2",
          "transcript_support_level": null,
          "aa_start": 117,
          "aa_end": null,
          "aa_length": 589,
          "cds_start": 349,
          "cds_end": null,
          "cds_length": 1770,
          "cdna_start": 487,
          "cdna_end": null,
          "cdna_length": 2219,
          "mane_select": "ENST00000381134.9",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARSL",
          "gene_hgnc_id": 719,
          "hgvs_c": "c.349G>A",
          "hgvs_p": "p.Gly117Arg",
          "transcript": "ENST00000381134.9",
          "protein_id": "ENSP00000370526.3",
          "transcript_support_level": 1,
          "aa_start": 117,
          "aa_end": null,
          "aa_length": 589,
          "cds_start": 349,
          "cds_end": null,
          "cds_length": 1770,
          "cdna_start": 487,
          "cdna_end": null,
          "cdna_length": 2219,
          "mane_select": "NM_000047.3",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARSL",
          "gene_hgnc_id": 719,
          "hgvs_c": "c.424G>A",
          "hgvs_p": "p.Gly142Arg",
          "transcript": "NM_001282628.2",
          "protein_id": "NP_001269557.1",
          "transcript_support_level": null,
          "aa_start": 142,
          "aa_end": null,
          "aa_length": 614,
          "cds_start": 424,
          "cds_end": null,
          "cds_length": 1845,
          "cdna_start": 773,
          "cdna_end": null,
          "cdna_length": 2505,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARSL",
          "gene_hgnc_id": 719,
          "hgvs_c": "c.424G>A",
          "hgvs_p": "p.Gly142Arg",
          "transcript": "NM_001369080.1",
          "protein_id": "NP_001356009.1",
          "transcript_support_level": null,
          "aa_start": 142,
          "aa_end": null,
          "aa_length": 614,
          "cds_start": 424,
          "cds_end": null,
          "cds_length": 1845,
          "cdna_start": 752,
          "cdna_end": null,
          "cdna_length": 2195,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARSL",
          "gene_hgnc_id": 719,
          "hgvs_c": "c.424G>A",
          "hgvs_p": "p.Gly142Arg",
          "transcript": "ENST00000545496.6",
          "protein_id": "ENSP00000441417.1",
          "transcript_support_level": 2,
          "aa_start": 142,
          "aa_end": null,
          "aa_length": 614,
          "cds_start": 424,
          "cds_end": null,
          "cds_length": 1845,
          "cdna_start": 716,
          "cdna_end": null,
          "cdna_length": 2158,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARSL",
          "gene_hgnc_id": 719,
          "hgvs_c": "c.424G>A",
          "hgvs_p": "p.Gly142Arg",
          "transcript": "ENST00000672027.1",
          "protein_id": "ENSP00000500220.1",
          "transcript_support_level": null,
          "aa_start": 142,
          "aa_end": null,
          "aa_length": 614,
          "cds_start": 424,
          "cds_end": null,
          "cds_length": 1845,
          "cdna_start": 752,
          "cdna_end": null,
          "cdna_length": 2173,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARSL",
          "gene_hgnc_id": 719,
          "hgvs_c": "c.424G>A",
          "hgvs_p": "p.Gly142Arg",
          "transcript": "ENST00000681963.1",
          "protein_id": "ENSP00000507760.1",
          "transcript_support_level": null,
          "aa_start": 142,
          "aa_end": null,
          "aa_length": 614,
          "cds_start": 424,
          "cds_end": null,
          "cds_length": 1845,
          "cdna_start": 682,
          "cdna_end": null,
          "cdna_length": 2890,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARSL",
          "gene_hgnc_id": 719,
          "hgvs_c": "c.424G>A",
          "hgvs_p": "p.Gly142Arg",
          "transcript": "ENST00000683290.1",
          "protein_id": "ENSP00000508156.1",
          "transcript_support_level": null,
          "aa_start": 142,
          "aa_end": null,
          "aa_length": 614,
          "cds_start": 424,
          "cds_end": null,
          "cds_length": 1845,
          "cdna_start": 768,
          "cdna_end": null,
          "cdna_length": 2976,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARSL",
          "gene_hgnc_id": 719,
          "hgvs_c": "c.376G>A",
          "hgvs_p": "p.Gly126Arg",
          "transcript": "NM_001369079.1",
          "protein_id": "NP_001356008.1",
          "transcript_support_level": null,
          "aa_start": 126,
          "aa_end": null,
          "aa_length": 598,
          "cds_start": 376,
          "cds_end": null,
          "cds_length": 1797,
          "cdna_start": 466,
          "cdna_end": null,
          "cdna_length": 1909,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARSL",
          "gene_hgnc_id": 719,
          "hgvs_c": "c.349G>A",
          "hgvs_p": "p.Gly117Arg",
          "transcript": "NM_001440751.1",
          "protein_id": "NP_001427680.1",
          "transcript_support_level": null,
          "aa_start": 117,
          "aa_end": null,
          "aa_length": 589,
          "cds_start": 349,
          "cds_end": null,
          "cds_length": 1770,
          "cdna_start": 535,
          "cdna_end": null,
          "cdna_length": 1978,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARSL",
          "gene_hgnc_id": 719,
          "hgvs_c": "c.349G>A",
          "hgvs_p": "p.Gly117Arg",
          "transcript": "ENST00000540563.6",
          "protein_id": "ENSP00000438198.2",
          "transcript_support_level": 2,
          "aa_start": 117,
          "aa_end": null,
          "aa_length": 589,
          "cds_start": 349,
          "cds_end": null,
          "cds_length": 1770,
          "cdna_start": 522,
          "cdna_end": null,
          "cdna_length": 2255,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARSL",
          "gene_hgnc_id": 719,
          "hgvs_c": "c.349G>A",
          "hgvs_p": "p.Gly117Arg",
          "transcript": "ENST00000672097.1",
          "protein_id": "ENSP00000500727.1",
          "transcript_support_level": null,
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          "cds_start": 349,
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          "cdna_start": 696,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
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        },
        {
          "aa_ref": "G",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
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          "gene_symbol": "ARSL",
          "gene_hgnc_id": 719,
          "hgvs_c": "c.337G>A",
          "hgvs_p": "p.Gly113Arg",
          "transcript": "ENST00000683677.1",
          "protein_id": "ENSP00000506786.1",
          "transcript_support_level": null,
          "aa_start": 113,
          "aa_end": null,
          "aa_length": 585,
          "cds_start": 337,
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          "cdna_start": 422,
          "cdna_end": null,
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          "mane_select": null,
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          "feature": null
        },
        {
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 5,
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          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARSL",
          "gene_hgnc_id": 719,
          "hgvs_c": "c.337G>A",
          "hgvs_p": "p.Gly113Arg",
          "transcript": "ENST00000684364.1",
          "protein_id": "ENSP00000507304.1",
          "transcript_support_level": null,
          "aa_start": 113,
          "aa_end": null,
          "aa_length": 585,
          "cds_start": 337,
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          "cdna_start": 470,
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          "cdna_length": 2678,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
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          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
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          "exon_count": 10,
          "intron_rank": null,
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          "gene_symbol": "ARSL",
          "gene_hgnc_id": 719,
          "hgvs_c": "c.187G>A",
          "hgvs_p": "p.Gly63Arg",
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          "protein_id": "NP_001269560.2",
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          "mane_select": null,
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          "feature": null
        },
        {
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          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
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          "exon_count": 10,
          "intron_rank": null,
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          "gene_symbol": "ARSL",
          "gene_hgnc_id": 719,
          "hgvs_c": "c.187G>A",
          "hgvs_p": "p.Gly63Arg",
          "transcript": "NM_001440750.1",
          "protein_id": "NP_001427679.1",
          "transcript_support_level": null,
          "aa_start": 63,
          "aa_end": null,
          "aa_length": 535,
          "cds_start": 187,
          "cds_end": null,
          "cds_length": 1608,
          "cdna_start": 325,
          "cdna_end": null,
          "cdna_length": 1768,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
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          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARSL",
          "gene_hgnc_id": 719,
          "hgvs_c": "c.187G>A",
          "hgvs_p": "p.Gly63Arg",
          "transcript": "ENST00000672761.1",
          "protein_id": "ENSP00000500108.1",
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          "cdna_length": 1899,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
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          "intron_rank": null,
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          "gene_symbol": "ARSL",
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          "hgvs_c": "c.187G>A",
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        {
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          ],
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          "intron_rank": null,
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          "gene_symbol": "ARSL",
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          "hgvs_p": "p.Gly63Arg",
          "transcript": "ENST00000684117.1",
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          "feature": null
        },
        {
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          "consequences": [
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          ],
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          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARSL",
          "gene_hgnc_id": 719,
          "hgvs_c": "c.187G>A",
          "hgvs_p": "p.Gly63Arg",
          "transcript": "ENST00000684077.1",
          "protein_id": "ENSP00000506767.1",
          "transcript_support_level": null,
          "aa_start": 63,
          "aa_end": null,
          "aa_length": 440,
          "cds_start": 187,
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          "cds_length": 1323,
          "cdna_start": 187,
          "cdna_end": null,
          "cdna_length": 1323,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARSL",
          "gene_hgnc_id": 719,
          "hgvs_c": "c.349G>A",
          "hgvs_p": "p.Gly117Arg",
          "transcript": "ENST00000682364.1",
          "protein_id": "ENSP00000507604.1",
          "transcript_support_level": null,
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      "acmg_classification": "Pathogenic",
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      "acmg_by_gene": [
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      "clinvar_disease": "X-linked chondrodysplasia punctata 1,not provided",
      "clinvar_classification": "Pathogenic/Likely pathogenic",
      "clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
      "clinvar_submissions_summary": "P:1 LP:1",
      "phenotype_combined": "X-linked chondrodysplasia punctata 1|not provided",
      "pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
      "custom_annotations": null
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  "message": null
}