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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: 11-32399988-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=32399988&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "11",
      "pos": 32399988,
      "ref": "T",
      "alt": "C",
      "effect": "missense_variant",
      "transcript": "ENST00000452863.10",
      "consequences": [
        {
          "aa_ref": "Q",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WT1",
          "gene_hgnc_id": 12796,
          "hgvs_c": "c.1073A>G",
          "hgvs_p": "p.Gln358Arg",
          "transcript": "NM_024426.6",
          "protein_id": "NP_077744.4",
          "transcript_support_level": null,
          "aa_start": 358,
          "aa_end": null,
          "aa_length": 522,
          "cds_start": 1073,
          "cds_end": null,
          "cds_length": 1569,
          "cdna_start": 1252,
          "cdna_end": null,
          "cdna_length": 3031,
          "mane_select": "ENST00000452863.10",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
          "aa_alt": "R",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WT1",
          "gene_hgnc_id": 12796,
          "hgvs_c": "c.1073A>G",
          "hgvs_p": "p.Gln358Arg",
          "transcript": "ENST00000452863.10",
          "protein_id": "ENSP00000415516.5",
          "transcript_support_level": 1,
          "aa_start": 358,
          "aa_end": null,
          "aa_length": 522,
          "cds_start": 1073,
          "cds_end": null,
          "cds_length": 1569,
          "cdna_start": 1252,
          "cdna_end": null,
          "cdna_length": 3031,
          "mane_select": "NM_024426.6",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WT1",
          "gene_hgnc_id": 12796,
          "hgvs_c": "c.1022A>G",
          "hgvs_p": "p.Gln341Arg",
          "transcript": "ENST00000639563.4",
          "protein_id": "ENSP00000492269.3",
          "transcript_support_level": 1,
          "aa_start": 341,
          "aa_end": null,
          "aa_length": 505,
          "cds_start": 1022,
          "cds_end": null,
          "cds_length": 1518,
          "cdna_start": 1201,
          "cdna_end": null,
          "cdna_length": 2980,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WT1",
          "gene_hgnc_id": 12796,
          "hgvs_c": "c.1022A>G",
          "hgvs_p": "p.Gln341Arg",
          "transcript": "ENST00000332351.9",
          "protein_id": "ENSP00000331327.5",
          "transcript_support_level": 1,
          "aa_start": 341,
          "aa_end": null,
          "aa_length": 502,
          "cds_start": 1022,
          "cds_end": null,
          "cds_length": 1509,
          "cdna_start": 1226,
          "cdna_end": null,
          "cdna_length": 2987,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WT1",
          "gene_hgnc_id": 12796,
          "hgvs_c": "c.422A>G",
          "hgvs_p": "p.Gln141Arg",
          "transcript": "ENST00000379079.8",
          "protein_id": "ENSP00000368370.2",
          "transcript_support_level": 1,
          "aa_start": 141,
          "aa_end": null,
          "aa_length": 302,
          "cds_start": 422,
          "cds_end": null,
          "cds_length": 909,
          "cdna_start": 696,
          "cdna_end": null,
          "cdna_length": 2466,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WT1",
          "gene_hgnc_id": 12796,
          "hgvs_c": "c.398A>G",
          "hgvs_p": "p.Gln133Arg",
          "transcript": "ENST00000640146.2",
          "protein_id": "ENSP00000491984.2",
          "transcript_support_level": 1,
          "aa_start": 133,
          "aa_end": null,
          "aa_length": 297,
          "cds_start": 398,
          "cds_end": null,
          "cds_length": 894,
          "cdna_start": 594,
          "cdna_end": null,
          "cdna_length": 2018,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WT1",
          "gene_hgnc_id": 12796,
          "hgvs_c": "n.*257A>G",
          "hgvs_p": null,
          "transcript": "ENST00000379077.9",
          "protein_id": "ENSP00000368368.5",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3186,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WT1",
          "gene_hgnc_id": 12796,
          "hgvs_c": "n.*257A>G",
          "hgvs_p": null,
          "transcript": "ENST00000379077.9",
          "protein_id": "ENSP00000368368.5",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3186,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WT1",
          "gene_hgnc_id": 12796,
          "hgvs_c": "c.1073A>G",
          "hgvs_p": "p.Gln358Arg",
          "transcript": "NM_024424.5",
          "protein_id": "NP_077742.3",
          "transcript_support_level": null,
          "aa_start": 358,
          "aa_end": null,
          "aa_length": 519,
          "cds_start": 1073,
          "cds_end": null,
          "cds_length": 1560,
          "cdna_start": 1252,
          "cdna_end": null,
          "cdna_length": 3022,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WT1",
          "gene_hgnc_id": 12796,
          "hgvs_c": "c.1073A>G",
          "hgvs_p": "p.Gln358Arg",
          "transcript": "ENST00000448076.9",
          "protein_id": "ENSP00000413452.5",
          "transcript_support_level": 2,
          "aa_start": 358,
          "aa_end": null,
          "aa_length": 519,
          "cds_start": 1073,
          "cds_end": null,
          "cds_length": 1560,
          "cdna_start": 1248,
          "cdna_end": null,
          "cdna_length": 2114,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WT1",
          "gene_hgnc_id": 12796,
          "hgvs_c": "c.1067A>G",
          "hgvs_p": "p.Gln356Arg",
          "transcript": "NM_001407044.1",
          "protein_id": "NP_001393973.1",
          "transcript_support_level": null,
          "aa_start": 356,
          "aa_end": null,
          "aa_length": 517,
          "cds_start": 1067,
          "cds_end": null,
          "cds_length": 1554,
          "cdna_start": 1246,
          "cdna_end": null,
          "cdna_length": 3016,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WT1",
          "gene_hgnc_id": 12796,
          "hgvs_c": "c.1022A>G",
          "hgvs_p": "p.Gln341Arg",
          "transcript": "NM_001407045.1",
          "protein_id": "NP_001393974.1",
          "transcript_support_level": null,
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          "cds_start": 1022,
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          "cdna_start": 1201,
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          "cdna_length": 2980,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
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          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WT1",
          "gene_hgnc_id": 12796,
          "hgvs_c": "c.1022A>G",
          "hgvs_p": "p.Gln341Arg",
          "transcript": "NM_000378.6",
          "protein_id": "NP_000369.4",
          "transcript_support_level": null,
          "aa_start": 341,
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          "cds_start": 1022,
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          "cds_length": 1509,
          "cdna_start": 1201,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WT1",
          "gene_hgnc_id": 12796,
          "hgvs_c": "c.1073A>G",
          "hgvs_p": "p.Gln358Arg",
          "transcript": "NM_001407046.1",
          "protein_id": "NP_001393975.1",
          "transcript_support_level": null,
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          "aa_length": 491,
          "cds_start": 1073,
          "cds_end": null,
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          "cdna_start": 1252,
          "cdna_end": null,
          "cdna_length": 2938,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
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          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
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          "gene_symbol": "WT1",
          "gene_hgnc_id": 12796,
          "hgvs_c": "c.950A>G",
          "hgvs_p": "p.Gln317Arg",
          "transcript": "NM_001407047.1",
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          "feature": null
        },
        {
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          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
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          "gene_symbol": "WT1",
          "gene_hgnc_id": 12796,
          "hgvs_c": "c.1022A>G",
          "hgvs_p": "p.Gln341Arg",
          "transcript": "NM_001407048.1",
          "protein_id": "NP_001393977.1",
          "transcript_support_level": null,
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          "cds_start": 1022,
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          "cds_length": 1428,
          "cdna_start": 1201,
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          "cdna_length": 2890,
          "mane_select": null,
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        },
        {
          "aa_ref": "Q",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
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          "gene_symbol": "WT1",
          "gene_hgnc_id": 12796,
          "hgvs_c": "c.1022A>G",
          "hgvs_p": "p.Gln341Arg",
          "transcript": "NM_001407049.1",
          "protein_id": "NP_001393978.1",
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          "aa_length": 474,
          "cds_start": 1022,
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          "cdna_start": 1201,
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
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          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
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          "exon_count": 8,
          "intron_rank": null,
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          "gene_symbol": "WT1",
          "gene_hgnc_id": 12796,
          "hgvs_c": "c.899A>G",
          "hgvs_p": "p.Gln300Arg",
          "transcript": "NM_001407050.1",
          "protein_id": "NP_001393979.1",
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        },
        {
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          "strand": false,
          "consequences": [
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          ],
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          "exon_rank_end": null,
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          "intron_rank": null,
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          "gene_symbol": "WT1",
          "gene_hgnc_id": 12796,
          "hgvs_c": "c.854A>G",
          "hgvs_p": "p.Gln285Arg",
          "transcript": "NM_001429031.1",
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        },
        {
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          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
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          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WT1",
          "gene_hgnc_id": 12796,
          "hgvs_c": "c.854A>G",
          "hgvs_p": "p.Gln285Arg",
          "transcript": "NM_001429032.1",
          "protein_id": "NP_001415961.1",
          "transcript_support_level": null,
          "aa_start": 285,
          "aa_end": null,
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          "cds_start": 854,
          "cds_end": null,
          "cds_length": 1341,
          "cdna_start": 1127,
          "cdna_end": null,
          "cdna_length": 2897,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "Q",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WT1",
          "gene_hgnc_id": 12796,
          "hgvs_c": "c.854A>G",
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      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": 4,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PM2,PP3_Moderate",
      "acmg_by_gene": [
        {
          "score": 4,
          "benign_score": 0,
          "pathogenic_score": 4,
          "criteria": [
            "PM2",
            "PP3_Moderate"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "ENST00000452863.10",
          "gene_symbol": "WT1",
          "hgnc_id": 12796,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.1073A>G",
          "hgvs_p": "p.Gln358Arg"
        }
      ],
      "clinvar_disease": "11p partial monosomy syndrome,Drash syndrome,Frasier syndrome,Inborn genetic diseases,Wilms tumor 1",
      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
      "clinvar_submissions_summary": "US:2",
      "phenotype_combined": "Frasier syndrome;Drash syndrome;Wilms tumor 1;11p partial monosomy syndrome|Inborn genetic diseases",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
    }
  ],
  "message": null
}