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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: 1-11980267-A-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=11980267&ref=A&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "1",
      "pos": 11980267,
      "ref": "A",
      "alt": "G",
      "effect": "non_coding_transcript_exon_variant",
      "transcript": "ENST00000676426.1",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MFN2",
          "gene_hgnc_id": 16877,
          "hgvs_c": "n.9A>G",
          "hgvs_p": null,
          "transcript": "ENST00000674706.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 2005,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MFN2",
          "gene_hgnc_id": 16877,
          "hgvs_c": "n.59A>G",
          "hgvs_p": null,
          "transcript": "ENST00000675194.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 2944,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MFN2",
          "gene_hgnc_id": 16877,
          "hgvs_c": "n.30A>G",
          "hgvs_p": null,
          "transcript": "ENST00000675872.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 4569,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MFN2",
          "gene_hgnc_id": 16877,
          "hgvs_c": "n.31A>G",
          "hgvs_p": null,
          "transcript": "ENST00000675959.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 4715,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MFN2",
          "gene_hgnc_id": 16877,
          "hgvs_c": "n.-367A>G",
          "hgvs_p": null,
          "transcript": "ENST00000676426.1",
          "protein_id": "ENSP00000502359.1",
          "transcript_support_level": null,
          "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": 4352,
          "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": 1,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MFN2",
          "gene_hgnc_id": 16877,
          "hgvs_c": "c.-367A>G",
          "hgvs_p": null,
          "transcript": "ENST00000675298.1",
          "protein_id": "ENSP00000501839.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 808,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2427,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3584,
          "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": 1,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MFN2",
          "gene_hgnc_id": 16877,
          "hgvs_c": "c.-367A>G",
          "hgvs_p": null,
          "transcript": "ENST00000675817.1",
          "protein_id": "ENSP00000502422.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 801,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2406,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4766,
          "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": 1,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MFN2",
          "gene_hgnc_id": 16877,
          "hgvs_c": "c.-222A>G",
          "hgvs_p": null,
          "transcript": "ENST00000444836.5",
          "protein_id": "ENSP00000416338.1",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 757,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2274,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4531,
          "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": 1,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MFN2",
          "gene_hgnc_id": 16877,
          "hgvs_c": "c.-312A>G",
          "hgvs_p": null,
          "transcript": "ENST00000674548.1",
          "protein_id": "ENSP00000502185.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 757,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2274,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4572,
          "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": 1,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MFN2",
          "gene_hgnc_id": 16877,
          "hgvs_c": "c.-222A>G",
          "hgvs_p": null,
          "transcript": "ENST00000674817.1",
          "protein_id": "ENSP00000502151.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 757,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2274,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4514,
          "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": 1,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MFN2",
          "gene_hgnc_id": 16877,
          "hgvs_c": "c.-270A>G",
          "hgvs_p": null,
          "transcript": "ENST00000675053.1",
          "protein_id": "ENSP00000501646.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 757,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2274,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4555,
          "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": 1,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MFN2",
          "gene_hgnc_id": 16877,
          "hgvs_c": "c.-431A>G",
          "hgvs_p": null,
          "transcript": "ENST00000412236.2",
          "protein_id": "ENSP00000412023.1",
          "transcript_support_level": 3,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 97,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 294,
          "cdna_start": null,
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          "cdna_length": 777,
          "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": 1,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MFN2",
          "gene_hgnc_id": 16877,
          "hgvs_c": "c.-363A>G",
          "hgvs_p": null,
          "transcript": "ENST00000675530.1",
          "protein_id": "ENSP00000501972.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 97,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 294,
          "cdna_start": null,
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          "cdna_length": 709,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
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          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MFN2",
          "gene_hgnc_id": 16877,
          "hgvs_c": "c.-435A>G",
          "hgvs_p": null,
          "transcript": "ENST00000676369.1",
          "protein_id": "ENSP00000502005.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 97,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 294,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 781,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MFN2",
          "gene_hgnc_id": 16877,
          "hgvs_c": "n.-367A>G",
          "hgvs_p": null,
          "transcript": "ENST00000676426.1",
          "protein_id": "ENSP00000502359.1",
          "transcript_support_level": null,
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          "biotype": null,
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        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MFN2",
          "gene_hgnc_id": 16877,
          "hgvs_c": "c.-367A>G",
          "hgvs_p": null,
          "transcript": "NM_014874.4",
          "protein_id": "NP_055689.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 757,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2274,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4407,
          "mane_select": "ENST00000235329.10",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MFN2",
          "gene_hgnc_id": 16877,
          "hgvs_c": "c.-367A>G",
          "hgvs_p": null,
          "transcript": "ENST00000235329.10",
          "protein_id": "ENSP00000235329.5",
          "transcript_support_level": 1,
          "aa_start": null,
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          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 4407,
          "mane_select": "NM_014874.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MFN2",
          "gene_hgnc_id": 16877,
          "hgvs_c": "c.-222A>G",
          "hgvs_p": null,
          "transcript": "NM_001127660.2",
          "protein_id": "NP_001121132.1",
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        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
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          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MFN2",
          "gene_hgnc_id": 16877,
          "hgvs_c": "c.-344A>G",
          "hgvs_p": null,
          "transcript": "ENST00000674910.1",
          "protein_id": "ENSP00000501716.1",
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        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
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          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MFN2",
          "gene_hgnc_id": 16877,
          "hgvs_c": "c.-429A>G",
          "hgvs_p": null,
          "transcript": "ENST00000675113.1",
          "protein_id": "ENSP00000502623.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": -4,
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          "cds_length": 2274,
          "cdna_start": null,
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          "cdna_length": 4461,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MFN2",
          "gene_hgnc_id": 16877,
          "hgvs_c": "c.-595A>G",
          "hgvs_p": null,
          "transcript": "ENST00000675231.1",
          "protein_id": "ENSP00000502404.1",
          "transcript_support_level": null,
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          "cds_start": -4,
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      "acmg_classification": "Benign",
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      "clinvar_disease": " kyphoscoliotic type 1,Charcot-Marie-Tooth disease type 2,Ehlers-Danlos syndrome,Hereditary motor and sensory neuropathy,Hereditary motor and sensory neuropathy with optic atrophy,not provided",
      "clinvar_classification": "Benign",
      "clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
      "clinvar_submissions_summary": "B:6",
      "phenotype_combined": "Ehlers-Danlos syndrome, kyphoscoliotic type 1|Hereditary motor and sensory neuropathy|Charcot-Marie-Tooth disease type 2|Hereditary motor and sensory neuropathy with optic atrophy|not provided",
      "pathogenicity_classification_combined": "Benign",
      "custom_annotations": null
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  "message": null
}