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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: 8-10155051-T-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=10155051&ref=T&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "8",
      "pos": 10155051,
      "ref": "T",
      "alt": "G",
      "effect": "intron_variant",
      "transcript": "NM_012331.5",
      "consequences": [
        {
          "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": 6,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "MSRA",
          "gene_hgnc_id": 7377,
          "hgvs_c": "c.143-52782T>G",
          "hgvs_p": null,
          "transcript": "NM_012331.5",
          "protein_id": "NP_036463.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 235,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 708,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000317173.9",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_012331.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "MSRA",
          "gene_hgnc_id": 7377,
          "hgvs_c": "c.143-52782T>G",
          "hgvs_p": null,
          "transcript": "ENST00000317173.9",
          "protein_id": "ENSP00000313921.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 235,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 708,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_012331.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000317173.9"
        },
        {
          "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": 6,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "MSRA",
          "gene_hgnc_id": 7377,
          "hgvs_c": "c.14-52782T>G",
          "hgvs_p": null,
          "transcript": "ENST00000382490.9",
          "protein_id": "ENSP00000371930.5",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 192,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 579,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000382490.9"
        },
        {
          "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": 7,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "MSRA",
          "gene_hgnc_id": 7377,
          "hgvs_c": "c.-56-52782T>G",
          "hgvs_p": null,
          "transcript": "ENST00000528246.5",
          "protein_id": "ENSP00000436839.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 169,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 510,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000528246.5"
        },
        {
          "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": 7,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "MSRA",
          "gene_hgnc_id": 7377,
          "hgvs_c": "c.143-52782T>G",
          "hgvs_p": null,
          "transcript": "ENST00000897533.1",
          "protein_id": "ENSP00000567592.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 273,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 822,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000897533.1"
        },
        {
          "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": 6,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "MSRA",
          "gene_hgnc_id": 7377,
          "hgvs_c": "c.259+5787T>G",
          "hgvs_p": null,
          "transcript": "ENST00000897536.1",
          "protein_id": "ENSP00000567595.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 251,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 756,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000897536.1"
        },
        {
          "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": 6,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "MSRA",
          "gene_hgnc_id": 7377,
          "hgvs_c": "c.143-52782T>G",
          "hgvs_p": null,
          "transcript": "ENST00000897535.1",
          "protein_id": "ENSP00000567594.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 239,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 720,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000897535.1"
        },
        {
          "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": 6,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "MSRA",
          "gene_hgnc_id": 7377,
          "hgvs_c": "c.259+5787T>G",
          "hgvs_p": null,
          "transcript": "ENST00000897537.1",
          "protein_id": "ENSP00000567596.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 239,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 720,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000897537.1"
        },
        {
          "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": 6,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "MSRA",
          "gene_hgnc_id": 7377,
          "hgvs_c": "c.259+5787T>G",
          "hgvs_p": null,
          "transcript": "ENST00000897534.1",
          "protein_id": "ENSP00000567593.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 234,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 705,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000897534.1"
        },
        {
          "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": 6,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "MSRA",
          "gene_hgnc_id": 7377,
          "hgvs_c": "c.143-52782T>G",
          "hgvs_p": null,
          "transcript": "ENST00000897531.1",
          "protein_id": "ENSP00000567590.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 229,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 690,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000897531.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 6,
          "intron_rank": 1,
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          "gene_symbol": "MSRA",
          "gene_hgnc_id": 7377,
          "hgvs_c": "c.143-52782T>G",
          "hgvs_p": null,
          "transcript": "ENST00000518255.5",
          "protein_id": "ENSP00000429461.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 213,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 642,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000518255.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": 1,
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          "gene_symbol": "MSRA",
          "gene_hgnc_id": 7377,
          "hgvs_c": "c.143-52782T>G",
          "hgvs_p": null,
          "transcript": "ENST00000897532.1",
          "protein_id": "ENSP00000567591.1",
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          "aa_length": 200,
          "cds_start": null,
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          "cds_length": 603,
          "cdna_start": null,
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        {
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          ],
          "exon_rank": null,
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          "gene_symbol": "MSRA",
          "gene_hgnc_id": 7377,
          "hgvs_c": "c.259+5787T>G",
          "hgvs_p": null,
          "transcript": "ENST00000897539.1",
          "protein_id": "ENSP00000567598.1",
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          "aa_start": null,
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          "cds_start": null,
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          "cdna_start": null,
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        },
        {
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          "canonical": false,
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          "consequences": [
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          "exon_count": 5,
          "intron_rank": 1,
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          "gene_symbol": "MSRA",
          "gene_hgnc_id": 7377,
          "hgvs_c": "c.143-52782T>G",
          "hgvs_p": null,
          "transcript": "NM_001135670.3",
          "protein_id": "NP_001129142.1",
          "transcript_support_level": null,
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          "aa_length": 195,
          "cds_start": null,
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          "cdna_start": null,
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          "mane_select": null,
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        },
        {
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          "gene_symbol": "MSRA",
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          "hgvs_c": "c.143-52782T>G",
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          "cds_start": null,
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          "feature": "ENST00000441698.6"
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        {
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          "canonical": false,
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          "strand": true,
          "consequences": [
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          ],
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          "exon_count": 6,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "MSRA",
          "gene_hgnc_id": 7377,
          "hgvs_c": "c.14-52782T>G",
          "hgvs_p": null,
          "transcript": "NM_001135671.3",
          "protein_id": "NP_001129143.1",
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          "cds_start": null,
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          "biotype": "protein_coding",
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        },
        {
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          "canonical": false,
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          "exon_count": 7,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "MSRA",
          "gene_hgnc_id": 7377,
          "hgvs_c": "c.-56-52782T>G",
          "hgvs_p": null,
          "transcript": "NM_001199729.3",
          "protein_id": "NP_001186658.1",
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          "aa_length": 169,
          "cds_start": null,
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          "cdna_start": null,
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          "feature": "NM_001199729.3"
        },
        {
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          "gene_symbol": "MSRA",
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          "hgvs_c": "c.143-52782T>G",
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        {
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          "intron_rank": 2,
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          "gene_symbol": "MSRA",
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          "hgvs_c": "c.-56-52782T>G",
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          "transcript": "ENST00000522907.5",
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          "biotype": "protein_coding",
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        },
        {
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          "consequences": [
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          ],
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          "exon_count": 4,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "MSRA",
          "gene_hgnc_id": 7377,
          "hgvs_c": "c.-56-52782T>G",
          "hgvs_p": null,
          "transcript": "ENST00000521209.6",
          "protein_id": "ENSP00000435644.1",
          "transcript_support_level": 3,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 59,
          "cds_start": null,
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          "cds_length": 180,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000521209.6"
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": 1,
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      "gene_symbol": "MSRA",
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      "gnomad_exomes_af": null,
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      "gnomad_genomes_ac": 28861,
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      "gnomad_genomes_homalt": 3910,
      "gnomad_mito_homoplasmic": null,
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      "computational_score_selected": -0.7799999713897705,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
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      "bayesdelnoaf_score": -0.78,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 1.352,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
      "dbscsnv_ada_score": null,
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      "apogee2_score": null,
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      "acmg_score": -8,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BS2",
      "acmg_by_gene": [
        {
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          "benign_score": 8,
          "pathogenic_score": 0,
          "criteria": [
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            "BS2"
          ],
          "verdict": "Benign",
          "transcript": "NM_012331.5",
          "gene_symbol": "MSRA",
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          "effects": [
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        {
          "score": -8,
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          "pathogenic_score": 0,
          "criteria": [
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            "BS2"
          ],
          "verdict": "Benign",
          "transcript": "XR_007060816.1",
          "gene_symbol": "LOC124901886",
          "hgnc_id": null,
          "effects": [
            "non_coding_transcript_exon_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.418T>G",
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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
}