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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-154400848-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=154400848&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "X",
      "pos": 154400848,
      "ref": "C",
      "alt": "T",
      "effect": "missense_variant",
      "transcript": "NM_001256577.2",
      "consequences": [
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "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": "RPL10",
          "gene_hgnc_id": 10298,
          "hgvs_c": "c.476C>T",
          "hgvs_p": "p.Thr159Ile",
          "transcript": "ENST00000458500.5",
          "protein_id": "ENSP00000395025.1",
          "transcript_support_level": 1,
          "aa_start": 159,
          "aa_end": null,
          "aa_length": 180,
          "cds_start": 476,
          "cds_end": null,
          "cds_length": 545,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000458500.5"
        },
        {
          "aa_ref": "H",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RPL10",
          "gene_hgnc_id": 10298,
          "hgvs_c": "c.639C>T",
          "hgvs_p": "p.His213His",
          "transcript": "NM_006013.5",
          "protein_id": "NP_006004.3",
          "transcript_support_level": null,
          "aa_start": 213,
          "aa_end": null,
          "aa_length": 214,
          "cds_start": 639,
          "cds_end": null,
          "cds_length": 645,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000369817.7",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_006013.5"
        },
        {
          "aa_ref": "H",
          "aa_alt": "H",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RPL10",
          "gene_hgnc_id": 10298,
          "hgvs_c": "c.639C>T",
          "hgvs_p": "p.His213His",
          "transcript": "ENST00000369817.7",
          "protein_id": "ENSP00000358832.2",
          "transcript_support_level": 5,
          "aa_start": 213,
          "aa_end": null,
          "aa_length": 214,
          "cds_start": 639,
          "cds_end": null,
          "cds_length": 645,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_006013.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000369817.7"
        },
        {
          "aa_ref": "H",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RPL10",
          "gene_hgnc_id": 10298,
          "hgvs_c": "c.639C>T",
          "hgvs_p": "p.His213His",
          "transcript": "ENST00000344746.8",
          "protein_id": "ENSP00000341730.4",
          "transcript_support_level": 1,
          "aa_start": 213,
          "aa_end": null,
          "aa_length": 214,
          "cds_start": 639,
          "cds_end": null,
          "cds_length": 645,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000344746.8"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "RPL10",
          "gene_hgnc_id": 10298,
          "hgvs_c": "c.278+907C>T",
          "hgvs_p": null,
          "transcript": "ENST00000451365.1",
          "protein_id": "ENSP00000406125.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 108,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 327,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000451365.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RPL10",
          "gene_hgnc_id": 10298,
          "hgvs_c": "n.1666C>T",
          "hgvs_p": null,
          "transcript": "ENST00000482732.1",
          "protein_id": null,
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "retained_intron",
          "feature": "ENST00000482732.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "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": "RPL10",
          "gene_hgnc_id": 10298,
          "hgvs_c": "c.476C>T",
          "hgvs_p": "p.Thr159Ile",
          "transcript": "NM_001256577.2",
          "protein_id": "NP_001243506.2",
          "transcript_support_level": null,
          "aa_start": 159,
          "aa_end": null,
          "aa_length": 216,
          "cds_start": 476,
          "cds_end": null,
          "cds_length": 651,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001256577.2"
        },
        {
          "aa_ref": "H",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RPL10",
          "gene_hgnc_id": 10298,
          "hgvs_c": "c.639C>T",
          "hgvs_p": "p.His213His",
          "transcript": "NM_001303624.2",
          "protein_id": "NP_001290553.1",
          "transcript_support_level": null,
          "aa_start": 213,
          "aa_end": null,
          "aa_length": 214,
          "cds_start": 639,
          "cds_end": null,
          "cds_length": 645,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001303624.2"
        },
        {
          "aa_ref": "H",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RPL10",
          "gene_hgnc_id": 10298,
          "hgvs_c": "c.639C>T",
          "hgvs_p": "p.His213His",
          "transcript": "NM_001303625.1",
          "protein_id": "NP_001290554.1",
          "transcript_support_level": null,
          "aa_start": 213,
          "aa_end": null,
          "aa_length": 214,
          "cds_start": 639,
          "cds_end": null,
          "cds_length": 645,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001303625.1"
        },
        {
          "aa_ref": "H",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RPL10",
          "gene_hgnc_id": 10298,
          "hgvs_c": "c.639C>T",
          "hgvs_p": "p.His213His",
          "transcript": "ENST00000890573.1",
          "protein_id": "ENSP00000560632.1",
          "transcript_support_level": null,
          "aa_start": 213,
          "aa_end": null,
          "aa_length": 214,
          "cds_start": 639,
          "cds_end": null,
          "cds_length": 645,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000890573.1"
        },
        {
          "aa_ref": "H",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RPL10",
          "gene_hgnc_id": 10298,
          "hgvs_c": "c.639C>T",
          "hgvs_p": "p.His213His",
          "transcript": "ENST00000948710.1",
          "protein_id": "ENSP00000618769.1",
          "transcript_support_level": null,
          "aa_start": 213,
          "aa_end": null,
          "aa_length": 214,
          "cds_start": 639,
          "cds_end": null,
          "cds_length": 645,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000948710.1"
        },
        {
          "aa_ref": "H",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RPL10",
          "gene_hgnc_id": 10298,
          "hgvs_c": "c.624C>T",
          "hgvs_p": "p.His208His",
          "transcript": "ENST00000890574.1",
          "protein_id": "ENSP00000560633.1",
          "transcript_support_level": null,
          "aa_start": 208,
          "aa_end": null,
          "aa_length": 209,
          "cds_start": 624,
          "cds_end": null,
          "cds_length": 630,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000890574.1"
        },
        {
          "aa_ref": "H",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RPL10",
          "gene_hgnc_id": 10298,
          "hgvs_c": "c.624C>T",
          "hgvs_p": "p.His208His",
          "transcript": "ENST00000890576.1",
          "protein_id": "ENSP00000560635.1",
          "transcript_support_level": null,
          "aa_start": 208,
          "aa_end": null,
          "aa_length": 209,
          "cds_start": 624,
          "cds_end": null,
          "cds_length": 630,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000890576.1"
        },
        {
          "aa_ref": "H",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RPL10",
          "gene_hgnc_id": 10298,
          "hgvs_c": "c.624C>T",
          "hgvs_p": "p.His208His",
          "transcript": "ENST00000915661.1",
          "protein_id": "ENSP00000585720.1",
          "transcript_support_level": null,
          "aa_start": 208,
          "aa_end": null,
          "aa_length": 209,
          "cds_start": 624,
          "cds_end": null,
          "cds_length": 630,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000915661.1"
        },
        {
          "aa_ref": "H",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RPL10",
          "gene_hgnc_id": 10298,
          "hgvs_c": "c.621C>T",
          "hgvs_p": "p.His207His",
          "transcript": "ENST00000915663.1",
          "protein_id": "ENSP00000585722.1",
          "transcript_support_level": null,
          "aa_start": 207,
          "aa_end": null,
          "aa_length": 208,
          "cds_start": 621,
          "cds_end": null,
          "cds_length": 627,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000915663.1"
        },
        {
          "aa_ref": "H",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RPL10",
          "gene_hgnc_id": 10298,
          "hgvs_c": "c.618C>T",
          "hgvs_p": "p.His206His",
          "transcript": "ENST00000915662.1",
          "protein_id": "ENSP00000585721.1",
          "transcript_support_level": null,
          "aa_start": 206,
          "aa_end": null,
          "aa_length": 207,
          "cds_start": 618,
          "cds_end": null,
          "cds_length": 624,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000915662.1"
        },
        {
          "aa_ref": "H",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RPL10",
          "gene_hgnc_id": 10298,
          "hgvs_c": "c.606C>T",
          "hgvs_p": "p.His202His",
          "transcript": "ENST00000915664.1",
          "protein_id": "ENSP00000585723.1",
          "transcript_support_level": null,
          "aa_start": 202,
          "aa_end": null,
          "aa_length": 203,
          "cds_start": 606,
          "cds_end": null,
          "cds_length": 612,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000915664.1"
        },
        {
          "aa_ref": "H",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RPL10",
          "gene_hgnc_id": 10298,
          "hgvs_c": "c.591C>T",
          "hgvs_p": "p.His197His",
          "transcript": "ENST00000890575.1",
          "protein_id": "ENSP00000560634.1",
          "transcript_support_level": null,
          "aa_start": 197,
          "aa_end": null,
          "aa_length": 198,
          "cds_start": 591,
          "cds_end": null,
          "cds_length": 597,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000890575.1"
        },
        {
          "aa_ref": "H",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RPL10",
          "gene_hgnc_id": 10298,
          "hgvs_c": "c.531C>T",
          "hgvs_p": "p.His177His",
          "transcript": "NM_001256580.2",
          "protein_id": "NP_001243509.2",
          "transcript_support_level": null,
          "aa_start": 177,
          "aa_end": null,
          "aa_length": 178,
          "cds_start": 531,
          "cds_end": null,
          "cds_length": 537,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001256580.2"
        },
        {
          "aa_ref": "H",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RPL10",
          "gene_hgnc_id": 10298,
          "hgvs_c": "c.531C>T",
          "hgvs_p": "p.His177His",
          "transcript": "ENST00000890577.1",
          "protein_id": "ENSP00000560636.1",
          "transcript_support_level": null,
          "aa_start": 177,
          "aa_end": null,
          "aa_length": 178,
          "cds_start": 531,
          "cds_end": null,
          "cds_length": 537,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000890577.1"
        },
        {
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      "gnomad_exomes_af": 9.11249e-7,
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      "computational_score_selected": 0.12711796164512634,
      "computational_prediction_selected": "Benign",
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      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
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      "alphamissense_prediction": "Benign",
      "bayesdelnoaf_score": -0.41,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 0.08,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
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      "acmg_score": 0,
      "acmg_classification": "Uncertain_significance",
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      "acmg_by_gene": [
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          "pathogenic_score": 2,
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            "BP4_Moderate"
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          "verdict": "Uncertain_significance",
          "transcript": "NM_001256577.2",
          "gene_symbol": "RPL10",
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          "hgvs_p": "p.Thr159Ile"
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      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}