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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: 19-46755619-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=46755619&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "19",
      "pos": 46755619,
      "ref": "G",
      "alt": "A",
      "effect": "missense_variant",
      "transcript": "NM_024301.5",
      "consequences": [
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FKRP",
          "gene_hgnc_id": 17997,
          "hgvs_c": "c.169G>A",
          "hgvs_p": "p.Glu57Lys",
          "transcript": "NM_024301.5",
          "protein_id": "NP_077277.1",
          "transcript_support_level": null,
          "aa_start": 57,
          "aa_end": null,
          "aa_length": 495,
          "cds_start": 169,
          "cds_end": null,
          "cds_length": 1488,
          "cdna_start": 455,
          "cdna_end": null,
          "cdna_length": 3411,
          "mane_select": "ENST00000318584.10",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FKRP",
          "gene_hgnc_id": 17997,
          "hgvs_c": "c.169G>A",
          "hgvs_p": "p.Glu57Lys",
          "transcript": "ENST00000318584.10",
          "protein_id": "ENSP00000326570.4",
          "transcript_support_level": 1,
          "aa_start": 57,
          "aa_end": null,
          "aa_length": 495,
          "cds_start": 169,
          "cds_end": null,
          "cds_length": 1488,
          "cdna_start": 455,
          "cdna_end": null,
          "cdna_length": 3411,
          "mane_select": "NM_024301.5",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FKRP",
          "gene_hgnc_id": 17997,
          "hgvs_c": "c.169G>A",
          "hgvs_p": "p.Glu57Lys",
          "transcript": "NM_001039885.3",
          "protein_id": "NP_001034974.1",
          "transcript_support_level": null,
          "aa_start": 57,
          "aa_end": null,
          "aa_length": 495,
          "cds_start": 169,
          "cds_end": null,
          "cds_length": 1488,
          "cdna_start": 507,
          "cdna_end": null,
          "cdna_length": 3463,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FKRP",
          "gene_hgnc_id": 17997,
          "hgvs_c": "c.169G>A",
          "hgvs_p": "p.Glu57Lys",
          "transcript": "ENST00000391909.7",
          "protein_id": "ENSP00000375776.2",
          "transcript_support_level": 2,
          "aa_start": 57,
          "aa_end": null,
          "aa_length": 495,
          "cds_start": 169,
          "cds_end": null,
          "cds_length": 1488,
          "cdna_start": 507,
          "cdna_end": null,
          "cdna_length": 2801,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FKRP",
          "gene_hgnc_id": 17997,
          "hgvs_c": "c.169G>A",
          "hgvs_p": "p.Glu57Lys",
          "transcript": "ENST00000601299.5",
          "protein_id": "ENSP00000470103.1",
          "transcript_support_level": 4,
          "aa_start": 57,
          "aa_end": null,
          "aa_length": 161,
          "cds_start": 169,
          "cds_end": null,
          "cds_length": 487,
          "cdna_start": 315,
          "cdna_end": null,
          "cdna_length": 633,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FKRP",
          "gene_hgnc_id": 17997,
          "hgvs_c": "c.169G>A",
          "hgvs_p": "p.Glu57Lys",
          "transcript": "ENST00000593902.1",
          "protein_id": "ENSP00000470901.1",
          "transcript_support_level": 4,
          "aa_start": 57,
          "aa_end": null,
          "aa_length": 136,
          "cds_start": 169,
          "cds_end": null,
          "cds_length": 411,
          "cdna_start": 335,
          "cdna_end": null,
          "cdna_length": 577,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FKRP",
          "gene_hgnc_id": 17997,
          "hgvs_c": "c.169G>A",
          "hgvs_p": "p.Glu57Lys",
          "transcript": "ENST00000600005.5",
          "protein_id": "ENSP00000470335.1",
          "transcript_support_level": 4,
          "aa_start": 57,
          "aa_end": null,
          "aa_length": 113,
          "cds_start": 169,
          "cds_end": null,
          "cds_length": 342,
          "cdna_start": 375,
          "cdna_end": null,
          "cdna_length": 548,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FKRP",
          "gene_hgnc_id": 17997,
          "hgvs_c": "c.169G>A",
          "hgvs_p": "p.Glu57Lys",
          "transcript": "ENST00000600227.5",
          "protein_id": "ENSP00000468825.1",
          "transcript_support_level": 4,
          "aa_start": 57,
          "aa_end": null,
          "aa_length": 105,
          "cds_start": 169,
          "cds_end": null,
          "cds_length": 318,
          "cdna_start": 410,
          "cdna_end": null,
          "cdna_length": 559,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FKRP",
          "gene_hgnc_id": 17997,
          "hgvs_c": "c.169G>A",
          "hgvs_p": "p.Glu57Lys",
          "transcript": "ENST00000593800.5",
          "protein_id": "ENSP00000471209.1",
          "transcript_support_level": 4,
          "aa_start": 57,
          "aa_end": null,
          "aa_length": 100,
          "cds_start": 169,
          "cds_end": null,
          "cds_length": 303,
          "cdna_start": 457,
          "cdna_end": null,
          "cdna_length": 591,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FKRP",
          "gene_hgnc_id": 17997,
          "hgvs_c": "c.169G>A",
          "hgvs_p": "p.Glu57Lys",
          "transcript": "ENST00000602181.5",
          "protein_id": "ENSP00000472981.1",
          "transcript_support_level": 4,
          "aa_start": 57,
          "aa_end": null,
          "aa_length": 94,
          "cds_start": 169,
          "cds_end": null,
          "cds_length": 287,
          "cdna_start": 364,
          "cdna_end": null,
          "cdna_length": 482,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FKRP",
          "gene_hgnc_id": 17997,
          "hgvs_c": "c.169G>A",
          "hgvs_p": "p.Glu57Lys",
          "transcript": "ENST00000593875.5",
          "protein_id": "ENSP00000470297.1",
          "transcript_support_level": 4,
          "aa_start": 57,
          "aa_end": null,
          "aa_length": 85,
          "cds_start": 169,
          "cds_end": null,
          "cds_length": 259,
          "cdna_start": 503,
          "cdna_end": null,
          "cdna_length": 593,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FKRP",
          "gene_hgnc_id": 17997,
          "hgvs_c": "c.169G>A",
          "hgvs_p": "p.Glu57Lys",
          "transcript": "ENST00000600629.5",
          "protein_id": "ENSP00000470096.1",
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          "cds_start": 169,
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          "cdna_start": 526,
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          "mane_select": null,
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          "biotype": null,
          "feature": null
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        {
          "aa_ref": "E",
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          "protein_coding": true,
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          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
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          "gene_symbol": "FKRP",
          "gene_hgnc_id": 17997,
          "hgvs_c": "c.169G>A",
          "hgvs_p": "p.Glu57Lys",
          "transcript": "ENST00000600834.5",
          "protein_id": "ENSP00000470024.1",
          "transcript_support_level": 4,
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          "cds_start": 169,
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          "cdna_length": 551,
          "mane_select": null,
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        },
        {
          "aa_ref": "E",
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          "consequences": [
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          "exon_count": 5,
          "intron_rank": null,
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          "gene_symbol": "FKRP",
          "gene_hgnc_id": 17997,
          "hgvs_c": "c.169G>A",
          "hgvs_p": "p.Glu57Lys",
          "transcript": "ENST00000595868.5",
          "protein_id": "ENSP00000471573.1",
          "transcript_support_level": 2,
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          "aa_end": null,
          "aa_length": 69,
          "cds_start": 169,
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          "cds_length": 210,
          "cdna_start": 515,
          "cdna_end": null,
          "cdna_length": 556,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
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          ],
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          "exon_count": 5,
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          "gene_symbol": "FKRP",
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        {
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          ],
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          "intron_rank": null,
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          "gene_symbol": "FKRP",
          "gene_hgnc_id": 17997,
          "hgvs_c": "c.169G>A",
          "hgvs_p": "p.Glu57Lys",
          "transcript": "ENST00000595570.5",
          "protein_id": "ENSP00000470929.1",
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          "aa_end": null,
          "aa_length": 60,
          "cds_start": 169,
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          "cdna_end": null,
          "cdna_length": 583,
          "mane_select": null,
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          "feature": null
        },
        {
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          ],
          "exon_rank": 5,
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          "exon_count": 5,
          "intron_rank": null,
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          "gene_symbol": "FKRP",
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          "hgvs_c": "c.169G>A",
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          "transcript": "ENST00000597313.5",
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          "cdna_start": 574,
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          "cdna_length": 584,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
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          "protein_coding": true,
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          ],
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          "intron_rank": null,
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          "gene_symbol": "FKRP",
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          "hgvs_c": "c.169G>A",
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        {
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          "gene_symbol": "FKRP",
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        },
        {
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          "gene_symbol": "FKRP",
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          "hgvs_c": "c.169G>A",
          "hgvs_p": "p.Glu57Lys",
          "transcript": "XM_005259249.5",
          "protein_id": "XP_005259306.1",
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          "cds_length": 1488,
          "cdna_start": 516,
          "cdna_end": null,
          "cdna_length": 3472,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
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          "gene_symbol": "FKRP",
          "gene_hgnc_id": 17997,
          "hgvs_c": "c.169G>A",
          "hgvs_p": "p.Glu57Lys",
          "transcript": "XM_011527306.3",
          "protein_id": "XP_011525608.1",
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      "acmg_score": 7,
      "acmg_classification": "Likely_pathogenic",
      "acmg_criteria": "PM1,PM2,PP2,PP3,PP5",
      "acmg_by_gene": [
        {
          "score": 7,
          "benign_score": 0,
          "pathogenic_score": 7,
          "criteria": [
            "PM1",
            "PM2",
            "PP2",
            "PP3",
            "PP5"
          ],
          "verdict": "Likely_pathogenic",
          "transcript": "NM_024301.5",
          "gene_symbol": "FKRP",
          "hgnc_id": 17997,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.169G>A",
          "hgvs_p": "p.Glu57Lys"
        }
      ],
      "clinvar_disease": "Autosomal recessive limb-girdle muscular dystrophy,Autosomal recessive limb-girdle muscular dystrophy type 2I,Walker-Warburg congenital muscular dystrophy,not provided",
      "clinvar_classification": "Conflicting classifications of pathogenicity",
      "clinvar_review_status": "criteria provided, conflicting classifications",
      "clinvar_submissions_summary": "P:1 LP:1 US:2",
      "phenotype_combined": "not provided|Walker-Warburg congenital muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2I|Autosomal recessive limb-girdle muscular dystrophy",
      "pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
      "custom_annotations": null
    }
  ],
  "message": null
}