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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: 10-71362526-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=71362526&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "10",
      "pos": 71362526,
      "ref": "C",
      "alt": "T",
      "effect": "missense_variant",
      "transcript": "ENST00000373189.6",
      "consequences": [
        {
          "aa_ref": "T",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC29A3",
          "gene_hgnc_id": 23096,
          "hgvs_c": "c.1346C>T",
          "hgvs_p": "p.Thr449Met",
          "transcript": "NM_018344.6",
          "protein_id": "NP_060814.4",
          "transcript_support_level": null,
          "aa_start": 449,
          "aa_end": null,
          "aa_length": 475,
          "cds_start": 1346,
          "cds_end": null,
          "cds_length": 1428,
          "cdna_start": 1397,
          "cdna_end": null,
          "cdna_length": 2256,
          "mane_select": "ENST00000373189.6",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "M",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC29A3",
          "gene_hgnc_id": 23096,
          "hgvs_c": "c.1346C>T",
          "hgvs_p": "p.Thr449Met",
          "transcript": "ENST00000373189.6",
          "protein_id": "ENSP00000362285.5",
          "transcript_support_level": 1,
          "aa_start": 449,
          "aa_end": null,
          "aa_length": 475,
          "cds_start": 1346,
          "cds_end": null,
          "cds_length": 1428,
          "cdna_start": 1397,
          "cdna_end": null,
          "cdna_length": 2256,
          "mane_select": "NM_018344.6",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC29A3",
          "gene_hgnc_id": 23096,
          "hgvs_c": "c.1112C>T",
          "hgvs_p": "p.Thr371Met",
          "transcript": "NM_001363518.2",
          "protein_id": "NP_001350447.1",
          "transcript_support_level": null,
          "aa_start": 371,
          "aa_end": null,
          "aa_length": 397,
          "cds_start": 1112,
          "cds_end": null,
          "cds_length": 1194,
          "cdna_start": 1818,
          "cdna_end": null,
          "cdna_length": 2677,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC29A3",
          "gene_hgnc_id": 23096,
          "hgvs_c": "c.1112C>T",
          "hgvs_p": "p.Thr371Met",
          "transcript": "ENST00000479577.2",
          "protein_id": "ENSP00000493995.1",
          "transcript_support_level": 2,
          "aa_start": 371,
          "aa_end": null,
          "aa_length": 397,
          "cds_start": 1112,
          "cds_end": null,
          "cds_length": 1194,
          "cdna_start": 1795,
          "cdna_end": null,
          "cdna_length": 2621,
          "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": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC29A3",
          "gene_hgnc_id": 23096,
          "hgvs_c": "n.*918C>T",
          "hgvs_p": null,
          "transcript": "ENST00000642198.1",
          "protein_id": "ENSP00000494827.1",
          "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": 2594,
          "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": 3,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC29A3",
          "gene_hgnc_id": 23096,
          "hgvs_c": "n.*667C>T",
          "hgvs_p": null,
          "transcript": "ENST00000643042.1",
          "protein_id": "ENSP00000496674.1",
          "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": 2245,
          "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": 7,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC29A3",
          "gene_hgnc_id": 23096,
          "hgvs_c": "n.*929C>T",
          "hgvs_p": null,
          "transcript": "ENST00000643619.1",
          "protein_id": "ENSP00000494378.1",
          "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": 2496,
          "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": 5,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC29A3",
          "gene_hgnc_id": 23096,
          "hgvs_c": "n.*672C>T",
          "hgvs_p": null,
          "transcript": "ENST00000643752.1",
          "protein_id": "ENSP00000495000.1",
          "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": 2392,
          "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": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC29A3",
          "gene_hgnc_id": 23096,
          "hgvs_c": "n.*667C>T",
          "hgvs_p": null,
          "transcript": "ENST00000644088.1",
          "protein_id": "ENSP00000494066.1",
          "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": 1927,
          "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": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC29A3",
          "gene_hgnc_id": 23096,
          "hgvs_c": "n.*672C>T",
          "hgvs_p": null,
          "transcript": "ENST00000644591.1",
          "protein_id": "ENSP00000496664.1",
          "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": 2136,
          "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": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC29A3",
          "gene_hgnc_id": 23096,
          "hgvs_c": "n.*918C>T",
          "hgvs_p": null,
          "transcript": "ENST00000645345.1",
          "protein_id": "ENSP00000495859.1",
          "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": 2365,
          "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": 7,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC29A3",
          "gene_hgnc_id": 23096,
          "hgvs_c": "n.*929C>T",
          "hgvs_p": null,
          "transcript": "ENST00000647524.1",
          "protein_id": "ENSP00000495077.1",
          "transcript_support_level": null,
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          "cdna_start": null,
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          "cdna_length": 2451,
          "mane_select": null,
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        },
        {
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC29A3",
          "gene_hgnc_id": 23096,
          "hgvs_c": "n.2822C>T",
          "hgvs_p": null,
          "transcript": "ENST00000697843.1",
          "protein_id": null,
          "transcript_support_level": null,
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          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 3664,
          "mane_select": null,
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          "biotype": null,
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        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC29A3",
          "gene_hgnc_id": 23096,
          "hgvs_c": "n.1314C>T",
          "hgvs_p": null,
          "transcript": "NR_033413.2",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
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          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2173,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC29A3",
          "gene_hgnc_id": 23096,
          "hgvs_c": "n.1087C>T",
          "hgvs_p": null,
          "transcript": "NR_033414.2",
          "protein_id": null,
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC29A3",
          "gene_hgnc_id": 23096,
          "hgvs_c": "c.*575C>T",
          "hgvs_p": null,
          "transcript": "NM_001174098.2",
          "protein_id": "NP_001167569.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 258,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 777,
          "cdna_start": null,
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          "cdna_length": 2262,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC29A3",
          "gene_hgnc_id": 23096,
          "hgvs_c": "n.*918C>T",
          "hgvs_p": null,
          "transcript": "ENST00000642198.1",
          "protein_id": "ENSP00000494827.1",
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          "aa_start": null,
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          "cdna_start": null,
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          "cdna_length": 2594,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC29A3",
          "gene_hgnc_id": 23096,
          "hgvs_c": "n.*667C>T",
          "hgvs_p": null,
          "transcript": "ENST00000643042.1",
          "protein_id": "ENSP00000496674.1",
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          "aa_start": null,
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        },
        {
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC29A3",
          "gene_hgnc_id": 23096,
          "hgvs_c": "n.*929C>T",
          "hgvs_p": null,
          "transcript": "ENST00000643619.1",
          "protein_id": "ENSP00000494378.1",
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC29A3",
          "gene_hgnc_id": 23096,
          "hgvs_c": "n.*672C>T",
          "hgvs_p": null,
          "transcript": "ENST00000643752.1",
          "protein_id": "ENSP00000495000.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": -4,
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          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2392,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SLC29A3",
          "gene_hgnc_id": 23096,
          "hgvs_c": "n.*667C>T",
          "hgvs_p": null,
          "transcript": "ENST00000644088.1",
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      ],
      "gene_symbol": "SLC29A3",
      "gene_hgnc_id": 23096,
      "dbsnp": "rs267607058",
      "frequency_reference_population": 0.000010532655,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 17,
      "gnomad_exomes_af": 0.0000109449,
      "gnomad_genomes_af": 0.00000657177,
      "gnomad_exomes_ac": 16,
      "gnomad_genomes_ac": 1,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.8479654788970947,
      "computational_prediction_selected": "Pathogenic",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.414,
      "revel_prediction": "Uncertain_significance",
      "alphamissense_score": 0.2388,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": 0.09,
      "bayesdelnoaf_prediction": "Uncertain_significance",
      "phylop100way_score": 7.905,
      "phylop100way_prediction": "Pathogenic",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
      "dbscsnv_ada_score": null,
      "dbscsnv_ada_prediction": null,
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": 6,
      "acmg_classification": "Likely_pathogenic",
      "acmg_criteria": "PM2,PM5,PP3_Moderate",
      "acmg_by_gene": [
        {
          "score": 6,
          "benign_score": 0,
          "pathogenic_score": 6,
          "criteria": [
            "PM2",
            "PM5",
            "PP3_Moderate"
          ],
          "verdict": "Likely_pathogenic",
          "transcript": "ENST00000373189.6",
          "gene_symbol": "SLC29A3",
          "hgnc_id": 23096,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.1346C>T",
          "hgvs_p": "p.Thr449Met"
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      ],
      "clinvar_disease": "H syndrome",
      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "US:1",
      "phenotype_combined": "H syndrome",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
    }
  ],
  "message": null
}