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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: 10-70529908-G-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=70529908&ref=G&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "10",
      "pos": 70529908,
      "ref": "G",
      "alt": "T",
      "effect": "missense_variant",
      "transcript": "NM_014431.3",
      "consequences": [
        {
          "aa_ref": "R",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PALD1",
          "gene_hgnc_id": 23530,
          "hgvs_c": "c.308G>T",
          "hgvs_p": "p.Arg103Leu",
          "transcript": "NM_014431.3",
          "protein_id": "NP_055246.2",
          "transcript_support_level": null,
          "aa_start": 103,
          "aa_end": null,
          "aa_length": 856,
          "cds_start": 308,
          "cds_end": null,
          "cds_length": 2571,
          "cdna_start": 630,
          "cdna_end": null,
          "cdna_length": 4610,
          "mane_select": "ENST00000263563.7",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_014431.3"
        },
        {
          "aa_ref": "R",
          "aa_alt": "L",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PALD1",
          "gene_hgnc_id": 23530,
          "hgvs_c": "c.308G>T",
          "hgvs_p": "p.Arg103Leu",
          "transcript": "ENST00000263563.7",
          "protein_id": "ENSP00000263563.5",
          "transcript_support_level": 1,
          "aa_start": 103,
          "aa_end": null,
          "aa_length": 856,
          "cds_start": 308,
          "cds_end": null,
          "cds_length": 2571,
          "cdna_start": 630,
          "cdna_end": null,
          "cdna_length": 4610,
          "mane_select": "NM_014431.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000263563.7"
        },
        {
          "aa_ref": "R",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PALD1",
          "gene_hgnc_id": 23530,
          "hgvs_c": "c.308G>T",
          "hgvs_p": "p.Arg103Leu",
          "transcript": "ENST00000697571.1",
          "protein_id": "ENSP00000513342.1",
          "transcript_support_level": null,
          "aa_start": 103,
          "aa_end": null,
          "aa_length": 865,
          "cds_start": 308,
          "cds_end": null,
          "cds_length": 2598,
          "cdna_start": 612,
          "cdna_end": null,
          "cdna_length": 4127,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000697571.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PALD1",
          "gene_hgnc_id": 23530,
          "hgvs_c": "c.308G>T",
          "hgvs_p": "p.Arg103Leu",
          "transcript": "ENST00000893833.1",
          "protein_id": "ENSP00000563892.1",
          "transcript_support_level": null,
          "aa_start": 103,
          "aa_end": null,
          "aa_length": 856,
          "cds_start": 308,
          "cds_end": null,
          "cds_length": 2571,
          "cdna_start": 675,
          "cdna_end": null,
          "cdna_length": 4658,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000893833.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PALD1",
          "gene_hgnc_id": 23530,
          "hgvs_c": "c.308G>T",
          "hgvs_p": "p.Arg103Leu",
          "transcript": "ENST00000893834.1",
          "protein_id": "ENSP00000563893.1",
          "transcript_support_level": null,
          "aa_start": 103,
          "aa_end": null,
          "aa_length": 856,
          "cds_start": 308,
          "cds_end": null,
          "cds_length": 2571,
          "cdna_start": 740,
          "cdna_end": null,
          "cdna_length": 4717,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000893834.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PALD1",
          "gene_hgnc_id": 23530,
          "hgvs_c": "c.308G>T",
          "hgvs_p": "p.Arg103Leu",
          "transcript": "ENST00000893836.1",
          "protein_id": "ENSP00000563895.1",
          "transcript_support_level": null,
          "aa_start": 103,
          "aa_end": null,
          "aa_length": 856,
          "cds_start": 308,
          "cds_end": null,
          "cds_length": 2571,
          "cdna_start": 534,
          "cdna_end": null,
          "cdna_length": 4512,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000893836.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PALD1",
          "gene_hgnc_id": 23530,
          "hgvs_c": "c.308G>T",
          "hgvs_p": "p.Arg103Leu",
          "transcript": "ENST00000915437.1",
          "protein_id": "ENSP00000585496.1",
          "transcript_support_level": null,
          "aa_start": 103,
          "aa_end": null,
          "aa_length": 856,
          "cds_start": 308,
          "cds_end": null,
          "cds_length": 2571,
          "cdna_start": 624,
          "cdna_end": null,
          "cdna_length": 4609,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000915437.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PALD1",
          "gene_hgnc_id": 23530,
          "hgvs_c": "c.308G>T",
          "hgvs_p": "p.Arg103Leu",
          "transcript": "ENST00000915438.1",
          "protein_id": "ENSP00000585497.1",
          "transcript_support_level": null,
          "aa_start": 103,
          "aa_end": null,
          "aa_length": 856,
          "cds_start": 308,
          "cds_end": null,
          "cds_length": 2571,
          "cdna_start": 482,
          "cdna_end": null,
          "cdna_length": 4479,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000915438.1"
        },
        {
          "aa_ref": "R",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PALD1",
          "gene_hgnc_id": 23530,
          "hgvs_c": "c.308G>T",
          "hgvs_p": "p.Arg103Leu",
          "transcript": "ENST00000915446.1",
          "protein_id": "ENSP00000585505.1",
          "transcript_support_level": null,
          "aa_start": 103,
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          "cdna_start": 756,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000915446.1"
        },
        {
          "aa_ref": "R",
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          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
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          "exon_count": 21,
          "intron_rank": null,
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          "gene_symbol": "PALD1",
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          "hgvs_c": "c.308G>T",
          "hgvs_p": "p.Arg103Leu",
          "transcript": "ENST00000945160.1",
          "protein_id": "ENSP00000615219.1",
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          "transcript": "ENST00000945162.1",
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        {
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        {
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        {
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        {
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          "intron_rank": null,
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          "gene_symbol": "PALD1",
          "gene_hgnc_id": 23530,
          "hgvs_c": "c.308G>T",
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          ],
          "verdict": "Uncertain_significance",
          "transcript": "NM_014431.3",
          "gene_symbol": "PALD1",
          "hgnc_id": 23530,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.308G>T",
          "hgvs_p": "p.Arg103Leu"
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}
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