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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: 8-119819488-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=119819488&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "8",
      "pos": 119819488,
      "ref": "T",
      "alt": "C",
      "effect": "missense_variant",
      "transcript": "NM_001437338.1",
      "consequences": [
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TAF2",
          "gene_hgnc_id": 11536,
          "hgvs_c": "c.157A>G",
          "hgvs_p": "p.Ile53Val",
          "transcript": "NM_003184.4",
          "protein_id": "NP_003175.2",
          "transcript_support_level": null,
          "aa_start": 53,
          "aa_end": null,
          "aa_length": 1199,
          "cds_start": 157,
          "cds_end": null,
          "cds_length": 3600,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000378164.7",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_003184.4"
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TAF2",
          "gene_hgnc_id": 11536,
          "hgvs_c": "c.157A>G",
          "hgvs_p": "p.Ile53Val",
          "transcript": "ENST00000378164.7",
          "protein_id": "ENSP00000367406.2",
          "transcript_support_level": 1,
          "aa_start": 53,
          "aa_end": null,
          "aa_length": 1199,
          "cds_start": 157,
          "cds_end": null,
          "cds_length": 3600,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_003184.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000378164.7"
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TAF2",
          "gene_hgnc_id": 11536,
          "hgvs_c": "c.157A>G",
          "hgvs_p": "p.Ile53Val",
          "transcript": "ENST00000686879.1",
          "protein_id": "ENSP00000509206.1",
          "transcript_support_level": null,
          "aa_start": 53,
          "aa_end": null,
          "aa_length": 1251,
          "cds_start": 157,
          "cds_end": null,
          "cds_length": 3756,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000686879.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TAF2",
          "gene_hgnc_id": 11536,
          "hgvs_c": "c.157A>G",
          "hgvs_p": "p.Ile53Val",
          "transcript": "ENST00000685235.1",
          "protein_id": "ENSP00000510174.1",
          "transcript_support_level": null,
          "aa_start": 53,
          "aa_end": null,
          "aa_length": 1214,
          "cds_start": 157,
          "cds_end": null,
          "cds_length": 3645,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000685235.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TAF2",
          "gene_hgnc_id": 11536,
          "hgvs_c": "c.157A>G",
          "hgvs_p": "p.Ile53Val",
          "transcript": "ENST00000688645.1",
          "protein_id": "ENSP00000509978.1",
          "transcript_support_level": null,
          "aa_start": 53,
          "aa_end": null,
          "aa_length": 1162,
          "cds_start": 157,
          "cds_end": null,
          "cds_length": 3489,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000688645.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TAF2",
          "gene_hgnc_id": 11536,
          "hgvs_c": "c.157A>G",
          "hgvs_p": "p.Ile53Val",
          "transcript": "ENST00000523904.2",
          "protein_id": "ENSP00000430832.2",
          "transcript_support_level": 3,
          "aa_start": 53,
          "aa_end": null,
          "aa_length": 1161,
          "cds_start": 157,
          "cds_end": null,
          "cds_length": 3486,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000523904.2"
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TAF2",
          "gene_hgnc_id": 11536,
          "hgvs_c": "c.157A>G",
          "hgvs_p": "p.Ile53Val",
          "transcript": "ENST00000690144.1",
          "protein_id": "ENSP00000510548.1",
          "transcript_support_level": null,
          "aa_start": 53,
          "aa_end": null,
          "aa_length": 1160,
          "cds_start": 157,
          "cds_end": null,
          "cds_length": 3483,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000690144.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TAF2",
          "gene_hgnc_id": 11536,
          "hgvs_c": "c.157A>G",
          "hgvs_p": "p.Ile53Val",
          "transcript": "ENST00000521007.2",
          "protein_id": "ENSP00000428484.2",
          "transcript_support_level": 3,
          "aa_start": 53,
          "aa_end": null,
          "aa_length": 229,
          "cds_start": 157,
          "cds_end": null,
          "cds_length": 692,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000521007.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TAF2",
          "gene_hgnc_id": 11536,
          "hgvs_c": "n.157A>G",
          "hgvs_p": null,
          "transcript": "ENST00000685202.1",
          "protein_id": "ENSP00000509214.1",
          "transcript_support_level": null,
          "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": "nonsense_mediated_decay",
          "feature": "ENST00000685202.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TAF2",
          "gene_hgnc_id": 11536,
          "hgvs_c": "n.157A>G",
          "hgvs_p": null,
          "transcript": "ENST00000685503.1",
          "protein_id": "ENSP00000509198.1",
          "transcript_support_level": null,
          "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": "nonsense_mediated_decay",
          "feature": "ENST00000685503.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TAF2",
          "gene_hgnc_id": 11536,
          "hgvs_c": "n.157A>G",
          "hgvs_p": null,
          "transcript": "ENST00000685663.1",
          "protein_id": "ENSP00000508988.1",
          "transcript_support_level": null,
          "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": "nonsense_mediated_decay",
          "feature": "ENST00000685663.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TAF2",
          "gene_hgnc_id": 11536,
          "hgvs_c": "n.157A>G",
          "hgvs_p": null,
          "transcript": "ENST00000685684.1",
          "protein_id": "ENSP00000509441.1",
          "transcript_support_level": null,
          "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": "nonsense_mediated_decay",
          "feature": "ENST00000685684.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TAF2",
          "gene_hgnc_id": 11536,
          "hgvs_c": "n.104A>G",
          "hgvs_p": null,
          "transcript": "ENST00000685824.1",
          "protein_id": "ENSP00000510262.1",
          "transcript_support_level": null,
          "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": "nonsense_mediated_decay",
          "feature": "ENST00000685824.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TAF2",
          "gene_hgnc_id": 11536,
          "hgvs_c": "n.157A>G",
          "hgvs_p": null,
          "transcript": "ENST00000685876.1",
          "protein_id": "ENSP00000510493.1",
          "transcript_support_level": null,
          "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": "nonsense_mediated_decay",
          "feature": "ENST00000685876.1"
        },
        {
          "aa_ref": null,
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          "canonical": true,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
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          "gene_symbol": "TAF2",
          "gene_hgnc_id": 11536,
          "hgvs_c": "n.104A>G",
          "hgvs_p": null,
          "transcript": "ENST00000685993.1",
          "protein_id": "ENSP00000510102.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "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": "nonsense_mediated_decay",
          "feature": "ENST00000685993.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TAF2",
          "gene_hgnc_id": 11536,
          "hgvs_c": "n.157A>G",
          "hgvs_p": null,
          "transcript": "ENST00000686098.1",
          "protein_id": "ENSP00000509102.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
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          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000686098.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TAF2",
          "gene_hgnc_id": 11536,
          "hgvs_c": "n.157A>G",
          "hgvs_p": null,
          "transcript": "ENST00000689164.1",
          "protein_id": "ENSP00000508729.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": null,
          "cds_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000689164.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TAF2",
          "gene_hgnc_id": 11536,
          "hgvs_c": "n.157A>G",
          "hgvs_p": null,
          "transcript": "ENST00000689919.1",
          "protein_id": "ENSP00000510768.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": null,
          "cds_start": null,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000689919.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TAF2",
          "gene_hgnc_id": 11536,
          "hgvs_c": "n.157A>G",
          "hgvs_p": null,
          "transcript": "ENST00000690031.1",
          "protein_id": "ENSP00000508549.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000690031.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TAF2",
          "gene_hgnc_id": 11536,
          "hgvs_c": "n.157A>G",
          "hgvs_p": null,
          "transcript": "ENST00000690808.1",
          "protein_id": "ENSP00000509791.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000690808.1"
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      "dbscsnv_ada_score": null,
      "dbscsnv_ada_prediction": null,
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": -9,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BP6,BS2",
      "acmg_by_gene": [
        {
          "score": -9,
          "benign_score": 9,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BP6",
            "BS2"
          ],
          "verdict": "Benign",
          "transcript": "NM_001437338.1",
          "gene_symbol": "TAF2",
          "hgnc_id": 11536,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.157A>G",
          "hgvs_p": "p.Ile53Val"
        }
      ],
      "clinvar_disease": "Microcephaly-thin corpus callosum-intellectual disability syndrome,not provided,not specified",
      "clinvar_classification": "Conflicting classifications of pathogenicity",
      "clinvar_review_status": "criteria provided, conflicting classifications",
      "clinvar_submissions_summary": "US:3 LB:3",
      "phenotype_combined": "not specified|not provided|Microcephaly-thin corpus callosum-intellectual disability syndrome",
      "pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
      "custom_annotations": null
    }
  ],
  "message": null
}
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