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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: 10-71828084-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=71828084&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "10",
      "pos": 71828084,
      "ref": "G",
      "alt": "A",
      "effect": "missense_variant",
      "transcript": "NM_001042465.3",
      "consequences": [
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PSAP",
          "gene_hgnc_id": 9498,
          "hgvs_c": "c.650C>T",
          "hgvs_p": "p.Thr217Ile",
          "transcript": "NM_002778.4",
          "protein_id": "NP_002769.1",
          "transcript_support_level": null,
          "aa_start": 217,
          "aa_end": null,
          "aa_length": 524,
          "cds_start": 650,
          "cds_end": null,
          "cds_length": 1575,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000394936.8",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_002778.4"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PSAP",
          "gene_hgnc_id": 9498,
          "hgvs_c": "c.650C>T",
          "hgvs_p": "p.Thr217Ile",
          "transcript": "ENST00000394936.8",
          "protein_id": "ENSP00000378394.3",
          "transcript_support_level": 1,
          "aa_start": 217,
          "aa_end": null,
          "aa_length": 524,
          "cds_start": 650,
          "cds_end": null,
          "cds_length": 1575,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_002778.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000394936.8"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PSAP",
          "gene_hgnc_id": 9498,
          "hgvs_c": "c.650C>T",
          "hgvs_p": "p.Thr217Ile",
          "transcript": "ENST00000870508.1",
          "protein_id": "ENSP00000540567.1",
          "transcript_support_level": null,
          "aa_start": 217,
          "aa_end": null,
          "aa_length": 568,
          "cds_start": 650,
          "cds_end": null,
          "cds_length": 1707,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000870508.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PSAP",
          "gene_hgnc_id": 9498,
          "hgvs_c": "c.713C>T",
          "hgvs_p": "p.Thr238Ile",
          "transcript": "ENST00000931479.1",
          "protein_id": "ENSP00000601538.1",
          "transcript_support_level": null,
          "aa_start": 238,
          "aa_end": null,
          "aa_length": 545,
          "cds_start": 713,
          "cds_end": null,
          "cds_length": 1638,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000931479.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PSAP",
          "gene_hgnc_id": 9498,
          "hgvs_c": "c.683C>T",
          "hgvs_p": "p.Thr228Ile",
          "transcript": "ENST00000870507.1",
          "protein_id": "ENSP00000540566.1",
          "transcript_support_level": null,
          "aa_start": 228,
          "aa_end": null,
          "aa_length": 535,
          "cds_start": 683,
          "cds_end": null,
          "cds_length": 1608,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000870507.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PSAP",
          "gene_hgnc_id": 9498,
          "hgvs_c": "c.674C>T",
          "hgvs_p": "p.Thr225Ile",
          "transcript": "ENST00000870519.1",
          "protein_id": "ENSP00000540578.1",
          "transcript_support_level": null,
          "aa_start": 225,
          "aa_end": null,
          "aa_length": 532,
          "cds_start": 674,
          "cds_end": null,
          "cds_length": 1599,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000870519.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PSAP",
          "gene_hgnc_id": 9498,
          "hgvs_c": "c.671C>T",
          "hgvs_p": "p.Thr224Ile",
          "transcript": "ENST00000870506.1",
          "protein_id": "ENSP00000540565.1",
          "transcript_support_level": null,
          "aa_start": 224,
          "aa_end": null,
          "aa_length": 531,
          "cds_start": 671,
          "cds_end": null,
          "cds_length": 1596,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000870506.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PSAP",
          "gene_hgnc_id": 9498,
          "hgvs_c": "c.650C>T",
          "hgvs_p": "p.Thr217Ile",
          "transcript": "ENST00000870505.1",
          "protein_id": "ENSP00000540564.1",
          "transcript_support_level": null,
          "aa_start": 217,
          "aa_end": null,
          "aa_length": 530,
          "cds_start": 650,
          "cds_end": null,
          "cds_length": 1593,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000870505.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PSAP",
          "gene_hgnc_id": 9498,
          "hgvs_c": "c.650C>T",
          "hgvs_p": "p.Thr217Ile",
          "transcript": "NM_001042465.3",
          "protein_id": "NP_001035930.1",
          "transcript_support_level": null,
          "aa_start": 217,
          "aa_end": null,
          "aa_length": 527,
          "cds_start": 650,
          "cds_end": null,
          "cds_length": 1584,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001042465.3"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PSAP",
          "gene_hgnc_id": 9498,
          "hgvs_c": "c.650C>T",
          "hgvs_p": "p.Thr217Ile",
          "transcript": "NM_001042466.3",
          "protein_id": "NP_001035931.1",
          "transcript_support_level": null,
          "aa_start": 217,
          "aa_end": null,
          "aa_length": 526,
          "cds_start": 650,
          "cds_end": null,
          "cds_length": 1581,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001042466.3"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PSAP",
          "gene_hgnc_id": 9498,
          "hgvs_c": "c.650C>T",
          "hgvs_p": "p.Thr217Ile",
          "transcript": "ENST00000870500.1",
          "protein_id": "ENSP00000540559.1",
          "transcript_support_level": null,
          "aa_start": 217,
          "aa_end": null,
          "aa_length": 523,
          "cds_start": 650,
          "cds_end": null,
          "cds_length": 1572,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000870500.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PSAP",
          "gene_hgnc_id": 9498,
          "hgvs_c": "c.647C>T",
          "hgvs_p": "p.Thr216Ile",
          "transcript": "ENST00000870512.1",
          "protein_id": "ENSP00000540571.1",
          "transcript_support_level": null,
          "aa_start": 216,
          "aa_end": null,
          "aa_length": 523,
          "cds_start": 647,
          "cds_end": null,
          "cds_length": 1572,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000870512.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PSAP",
          "gene_hgnc_id": 9498,
          "hgvs_c": "c.647C>T",
          "hgvs_p": "p.Thr216Ile",
          "transcript": "ENST00000870517.1",
          "protein_id": "ENSP00000540576.1",
          "transcript_support_level": null,
          "aa_start": 216,
          "aa_end": null,
          "aa_length": 523,
          "cds_start": 647,
          "cds_end": null,
          "cds_length": 1572,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000870517.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PSAP",
          "gene_hgnc_id": 9498,
          "hgvs_c": "c.644C>T",
          "hgvs_p": "p.Thr215Ile",
          "transcript": "ENST00000870502.1",
          "protein_id": "ENSP00000540561.1",
          "transcript_support_level": null,
          "aa_start": 215,
          "aa_end": null,
          "aa_length": 522,
          "cds_start": 644,
          "cds_end": null,
          "cds_length": 1569,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000870502.1"
        },
        {
          "aa_ref": "T",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PSAP",
          "gene_hgnc_id": 9498,
          "hgvs_c": "c.650C>T",
          "hgvs_p": "p.Thr217Ile",
          "transcript": "ENST00000870503.1",
          "protein_id": "ENSP00000540562.1",
          "transcript_support_level": null,
          "aa_start": 217,
          "aa_end": null,
          "aa_length": 522,
          "cds_start": 650,
          "cds_end": null,
          "cds_length": 1569,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000870503.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PSAP",
          "gene_hgnc_id": 9498,
          "hgvs_c": "c.650C>T",
          "hgvs_p": "p.Thr217Ile",
          "transcript": "ENST00000931480.1",
          "protein_id": "ENSP00000601539.1",
          "transcript_support_level": null,
          "aa_start": 217,
          "aa_end": null,
          "aa_length": 521,
          "cds_start": 650,
          "cds_end": null,
          "cds_length": 1566,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000931480.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PSAP",
          "gene_hgnc_id": 9498,
          "hgvs_c": "c.650C>T",
          "hgvs_p": "p.Thr217Ile",
          "transcript": "ENST00000958165.1",
          "protein_id": "ENSP00000628224.1",
          "transcript_support_level": null,
          "aa_start": 217,
          "aa_end": null,
          "aa_length": 521,
          "cds_start": 650,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
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          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 6,
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          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PSAP",
          "gene_hgnc_id": 9498,
          "hgvs_c": "c.650C>T",
          "hgvs_p": "p.Thr217Ile",
          "transcript": "ENST00000958167.1",
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          "aa_end": null,
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          "cds_start": 650,
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          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000958167.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
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          ],
          "exon_rank": 6,
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          "intron_rank": null,
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          "gene_symbol": "PSAP",
          "gene_hgnc_id": 9498,
          "hgvs_c": "c.629C>T",
          "hgvs_p": "p.Thr210Ile",
          "transcript": "ENST00000958166.1",
          "protein_id": "ENSP00000628225.1",
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          "aa_start": 210,
          "aa_end": null,
          "aa_length": 517,
          "cds_start": 629,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000958166.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PSAP",
          "gene_hgnc_id": 9498,
          "hgvs_c": "c.650C>T",
          "hgvs_p": "p.Thr217Ile",
          "transcript": "ENST00000870510.1",
          "protein_id": "ENSP00000540569.1",
          "transcript_support_level": null,
          "aa_start": 217,
          "aa_end": null,
          "aa_length": 515,
          "cds_start": 650,
          "cds_end": null,
          "cds_length": 1548,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000870510.1"
        },
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      "phylop100way_score": 4.313,
      "phylop100way_prediction": "Uncertain_significance",
      "spliceai_max_score": 0.02,
      "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": 11,
      "acmg_classification": "Pathogenic",
      "acmg_criteria": "PM1,PP3,PP5_Very_Strong",
      "acmg_by_gene": [
        {
          "score": 11,
          "benign_score": 0,
          "pathogenic_score": 11,
          "criteria": [
            "PM1",
            "PP3",
            "PP5_Very_Strong"
          ],
          "verdict": "Pathogenic",
          "transcript": "NM_001042465.3",
          "gene_symbol": "PSAP",
          "hgnc_id": 9498,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AR,Unknown",
          "hgvs_c": "c.650C>T",
          "hgvs_p": "p.Thr217Ile"
        }
      ],
      "clinvar_disease": " autosomal dominant, susceptibility to,Combined PSAP deficiency,Gaucher disease due to saposin C deficiency,Inborn genetic diseases,Krabbe disease due to saposin A deficiency,Parkinson disease 24,Sphingolipid activator protein 1 deficiency,not provided",
      "clinvar_classification": "Pathogenic/Likely pathogenic",
      "clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
      "clinvar_submissions_summary": "P:2 LP:3",
      "phenotype_combined": "Sphingolipid activator protein 1 deficiency|Inborn genetic diseases|not provided|Combined PSAP deficiency;Gaucher disease due to saposin C deficiency;Krabbe disease due to saposin A deficiency;Sphingolipid activator protein 1 deficiency;Parkinson disease 24, autosomal dominant, susceptibility to",
      "pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
      "custom_annotations": null
    }
  ],
  "message": null
}