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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: 11-31539740-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=31539740&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "11",
      "pos": 31539740,
      "ref": "T",
      "alt": "C",
      "effect": "missense_variant",
      "transcript": "NM_001288726.2",
      "consequences": [
        {
          "aa_ref": "L",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ELP4",
          "gene_hgnc_id": 1171,
          "hgvs_c": "c.338T>C",
          "hgvs_p": "p.Leu113Ser",
          "transcript": "NM_019040.5",
          "protein_id": "NP_061913.3",
          "transcript_support_level": null,
          "aa_start": 113,
          "aa_end": null,
          "aa_length": 424,
          "cds_start": 338,
          "cds_end": null,
          "cds_length": 1275,
          "cdna_start": 356,
          "cdna_end": null,
          "cdna_length": 8093,
          "mane_select": "ENST00000640961.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_019040.5"
        },
        {
          "aa_ref": "L",
          "aa_alt": "S",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ELP4",
          "gene_hgnc_id": 1171,
          "hgvs_c": "c.338T>C",
          "hgvs_p": "p.Leu113Ser",
          "transcript": "ENST00000640961.2",
          "protein_id": "ENSP00000492152.1",
          "transcript_support_level": 1,
          "aa_start": 113,
          "aa_end": null,
          "aa_length": 424,
          "cds_start": 338,
          "cds_end": null,
          "cds_length": 1275,
          "cdna_start": 356,
          "cdna_end": null,
          "cdna_length": 8093,
          "mane_select": "NM_019040.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000640961.2"
        },
        {
          "aa_ref": "L",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ELP4",
          "gene_hgnc_id": 1171,
          "hgvs_c": "c.338T>C",
          "hgvs_p": "p.Leu113Ser",
          "transcript": "ENST00000395934.2",
          "protein_id": "ENSP00000379267.2",
          "transcript_support_level": 1,
          "aa_start": 113,
          "aa_end": null,
          "aa_length": 535,
          "cds_start": 338,
          "cds_end": null,
          "cds_length": 1608,
          "cdna_start": 345,
          "cdna_end": null,
          "cdna_length": 1961,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000395934.2"
        },
        {
          "aa_ref": "L",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ELP4",
          "gene_hgnc_id": 1171,
          "hgvs_c": "c.338T>C",
          "hgvs_p": "p.Leu113Ser",
          "transcript": "NM_001288726.2",
          "protein_id": "NP_001275655.1",
          "transcript_support_level": null,
          "aa_start": 113,
          "aa_end": null,
          "aa_length": 535,
          "cds_start": 338,
          "cds_end": null,
          "cds_length": 1608,
          "cdna_start": 356,
          "cdna_end": null,
          "cdna_length": 8521,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001288726.2"
        },
        {
          "aa_ref": "L",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ELP4",
          "gene_hgnc_id": 1171,
          "hgvs_c": "c.338T>C",
          "hgvs_p": "p.Leu113Ser",
          "transcript": "NM_001288725.2",
          "protein_id": "NP_001275654.1",
          "transcript_support_level": null,
          "aa_start": 113,
          "aa_end": null,
          "aa_length": 476,
          "cds_start": 338,
          "cds_end": null,
          "cds_length": 1431,
          "cdna_start": 356,
          "cdna_end": null,
          "cdna_length": 8235,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001288725.2"
        },
        {
          "aa_ref": "L",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ELP4",
          "gene_hgnc_id": 1171,
          "hgvs_c": "c.338T>C",
          "hgvs_p": "p.Leu113Ser",
          "transcript": "ENST00000379163.10",
          "protein_id": "ENSP00000368461.5",
          "transcript_support_level": 2,
          "aa_start": 113,
          "aa_end": null,
          "aa_length": 476,
          "cds_start": 338,
          "cds_end": null,
          "cds_length": 1431,
          "cdna_start": 364,
          "cdna_end": null,
          "cdna_length": 1700,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000379163.10"
        },
        {
          "aa_ref": "L",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ELP4",
          "gene_hgnc_id": 1171,
          "hgvs_c": "c.338T>C",
          "hgvs_p": "p.Leu113Ser",
          "transcript": "ENST00000640231.1",
          "protein_id": "ENSP00000492475.1",
          "transcript_support_level": 5,
          "aa_start": 113,
          "aa_end": null,
          "aa_length": 475,
          "cds_start": 338,
          "cds_end": null,
          "cds_length": 1428,
          "cdna_start": 351,
          "cdna_end": null,
          "cdna_length": 2062,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000640231.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ELP4",
          "gene_hgnc_id": 1171,
          "hgvs_c": "c.338T>C",
          "hgvs_p": "p.Leu113Ser",
          "transcript": "ENST00000640954.1",
          "protein_id": "ENSP00000492376.1",
          "transcript_support_level": 5,
          "aa_start": 113,
          "aa_end": null,
          "aa_length": 450,
          "cds_start": 338,
          "cds_end": null,
          "cds_length": 1353,
          "cdna_start": 345,
          "cdna_end": null,
          "cdna_length": 1612,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000640954.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ELP4",
          "gene_hgnc_id": 1171,
          "hgvs_c": "c.338T>C",
          "hgvs_p": "p.Leu113Ser",
          "transcript": "ENST00000350638.10",
          "protein_id": "ENSP00000298937.9",
          "transcript_support_level": 5,
          "aa_start": 113,
          "aa_end": null,
          "aa_length": 425,
          "cds_start": 338,
          "cds_end": null,
          "cds_length": 1278,
          "cdna_start": 361,
          "cdna_end": null,
          "cdna_length": 1907,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000350638.10"
        },
        {
          "aa_ref": "L",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ELP4",
          "gene_hgnc_id": 1171,
          "hgvs_c": "c.338T>C",
          "hgvs_p": "p.Leu113Ser",
          "transcript": "ENST00000640533.1",
          "protein_id": "ENSP00000492770.1",
          "transcript_support_level": 5,
          "aa_start": 113,
          "aa_end": null,
          "aa_length": 425,
          "cds_start": 338,
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          "cds_length": 1278,
          "cdna_start": 356,
          "cdna_end": null,
          "cdna_length": 1801,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000640533.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "S",
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          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ELP4",
          "gene_hgnc_id": 1171,
          "hgvs_c": "c.338T>C",
          "hgvs_p": "p.Leu113Ser",
          "transcript": "ENST00000638482.1",
          "protein_id": "ENSP00000491641.1",
          "transcript_support_level": 5,
          "aa_start": 113,
          "aa_end": null,
          "aa_length": 424,
          "cds_start": 338,
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          "cds_length": 1275,
          "cdna_start": 356,
          "cdna_end": null,
          "cdna_length": 3084,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000638482.1"
        },
        {
          "aa_ref": "L",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 3,
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          "exon_count": 10,
          "intron_rank": null,
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          "gene_symbol": "ELP4",
          "gene_hgnc_id": 1171,
          "hgvs_c": "c.338T>C",
          "hgvs_p": "p.Leu113Ser",
          "transcript": "ENST00000948243.1",
          "protein_id": "ENSP00000618302.1",
          "transcript_support_level": null,
          "aa_start": 113,
          "aa_end": null,
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          "cds_start": 338,
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          "cds_length": 1266,
          "cdna_start": 347,
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          "cdna_length": 1518,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000948243.1"
        },
        {
          "aa_ref": "L",
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          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
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          "gene_symbol": "ELP4",
          "gene_hgnc_id": 1171,
          "hgvs_c": "c.302T>C",
          "hgvs_p": "p.Leu101Ser",
          "transcript": "ENST00000948241.1",
          "protein_id": "ENSP00000618300.1",
          "transcript_support_level": null,
          "aa_start": 101,
          "aa_end": null,
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          "cds_start": 302,
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          "cdna_start": 313,
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          "cdna_length": 1745,
          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "L",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ELP4",
          "gene_hgnc_id": 1171,
          "hgvs_c": "c.302T>C",
          "hgvs_p": "p.Leu101Ser",
          "transcript": "ENST00000948242.1",
          "protein_id": "ENSP00000618301.1",
          "transcript_support_level": null,
          "aa_start": 101,
          "aa_end": null,
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          "cds_start": 302,
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          "cdna_start": 309,
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        },
        {
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          "gene_symbol": "ELP4",
          "gene_hgnc_id": 1171,
          "hgvs_c": "c.338T>C",
          "hgvs_p": "p.Leu113Ser",
          "transcript": "ENST00000640342.1",
          "protein_id": "ENSP00000492628.1",
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          "cds_start": 338,
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          "cdna_start": 353,
          "cdna_end": null,
          "cdna_length": 1392,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000640342.1"
        },
        {
          "aa_ref": "L",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
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          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ELP4",
          "gene_hgnc_id": 1171,
          "hgvs_c": "c.338T>C",
          "hgvs_p": "p.Leu113Ser",
          "transcript": "ENST00000638347.1",
          "protein_id": "ENSP00000492567.1",
          "transcript_support_level": 5,
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          "aa_end": null,
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          "cds_start": 338,
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          "mane_select": null,
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        },
        {
          "aa_ref": "L",
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          ],
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          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ELP4",
          "gene_hgnc_id": 1171,
          "hgvs_c": "c.338T>C",
          "hgvs_p": "p.Leu113Ser",
          "transcript": "ENST00000639570.1",
          "protein_id": "ENSP00000491971.1",
          "transcript_support_level": 5,
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        {
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          "gene_symbol": "ELP4",
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          "hgvs_c": "c.338T>C",
          "hgvs_p": "p.Leu113Ser",
          "transcript": "ENST00000639878.1",
          "protein_id": "ENSP00000491157.1",
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          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
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          ],
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          "intron_rank": null,
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          "gene_symbol": "ELP4",
          "gene_hgnc_id": 1171,
          "hgvs_c": "c.338T>C",
          "hgvs_p": "p.Leu113Ser",
          "transcript": "ENST00000919838.1",
          "protein_id": "ENSP00000589897.1",
          "transcript_support_level": null,
          "aa_start": 113,
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          "cdna_length": 1408,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000919838.1"
        },
        {
          "aa_ref": "L",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ELP4",
          "gene_hgnc_id": 1171,
          "hgvs_c": "c.269T>C",
          "hgvs_p": "p.Leu90Ser",
          "transcript": "ENST00000638184.1",
          "protein_id": "ENSP00000491155.1",
          "transcript_support_level": 5,
          "aa_start": 90,
          "aa_end": null,
          "aa_length": 358,
          "cds_start": 269,
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          "cds_length": 1077,
          "cdna_start": 271,
          "cdna_end": null,
          "cdna_length": 1330,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000638184.1"
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      "computational_prediction_selected": "Benign",
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          "effects": [
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          "hgvs_p": "p.Leu113Ser"
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      "clinvar_disease": "not provided",
      "clinvar_classification": "Benign",
      "clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
      "clinvar_submissions_summary": "B:2",
      "phenotype_combined": "not provided",
      "pathogenicity_classification_combined": "Benign",
      "custom_annotations": null
    }
  ],
  "message": null
}
For research and educational, non-commercial use only. Not for clinical or diagnostic use. GeneBe does not provide medical advice. Data use for AI modeling is prohibited: if used, the cost is $0.001 per byte of downloaded uncompressed data.