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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: 17-39725161-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=39725161&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "17",
      "pos": 39725161,
      "ref": "T",
      "alt": "C",
      "effect": "missense_variant",
      "transcript": "NM_001382784.1",
      "consequences": [
        {
          "aa_ref": "L",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ERBB2",
          "gene_hgnc_id": 3430,
          "hgvs_c": "c.2606T>C",
          "hgvs_p": "p.Leu869Pro",
          "transcript": "NM_004448.4",
          "protein_id": "NP_004439.2",
          "transcript_support_level": null,
          "aa_start": 869,
          "aa_end": null,
          "aa_length": 1255,
          "cds_start": 2606,
          "cds_end": null,
          "cds_length": 3768,
          "cdna_start": 2781,
          "cdna_end": null,
          "cdna_length": 4557,
          "mane_select": "ENST00000269571.10",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_004448.4"
        },
        {
          "aa_ref": "L",
          "aa_alt": "P",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ERBB2",
          "gene_hgnc_id": 3430,
          "hgvs_c": "c.2606T>C",
          "hgvs_p": "p.Leu869Pro",
          "transcript": "ENST00000269571.10",
          "protein_id": "ENSP00000269571.4",
          "transcript_support_level": 1,
          "aa_start": 869,
          "aa_end": null,
          "aa_length": 1255,
          "cds_start": 2606,
          "cds_end": null,
          "cds_length": 3768,
          "cdna_start": 2781,
          "cdna_end": null,
          "cdna_length": 4557,
          "mane_select": "NM_004448.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000269571.10"
        },
        {
          "aa_ref": "L",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ERBB2",
          "gene_hgnc_id": 3430,
          "hgvs_c": "c.2606T>C",
          "hgvs_p": "p.Leu869Pro",
          "transcript": "ENST00000584450.5",
          "protein_id": "ENSP00000463714.1",
          "transcript_support_level": 1,
          "aa_start": 869,
          "aa_end": null,
          "aa_length": 1055,
          "cds_start": 2606,
          "cds_end": null,
          "cds_length": 3168,
          "cdna_start": 2821,
          "cdna_end": null,
          "cdna_length": 3730,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000584450.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ERBB2",
          "gene_hgnc_id": 3430,
          "hgvs_c": "n.*2396T>C",
          "hgvs_p": null,
          "transcript": "ENST00000578373.5",
          "protein_id": "ENSP00000463427.1",
          "transcript_support_level": 1,
          "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": 4523,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000578373.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ERBB2",
          "gene_hgnc_id": 3430,
          "hgvs_c": "n.*2396T>C",
          "hgvs_p": null,
          "transcript": "ENST00000578373.5",
          "protein_id": "ENSP00000463427.1",
          "transcript_support_level": 1,
          "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": 4523,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000578373.5"
        },
        {
          "aa_ref": "L",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ERBB2",
          "gene_hgnc_id": 3430,
          "hgvs_c": "c.2723T>C",
          "hgvs_p": "p.Leu908Pro",
          "transcript": "NM_001382784.1",
          "protein_id": "NP_001369713.1",
          "transcript_support_level": null,
          "aa_start": 908,
          "aa_end": null,
          "aa_length": 1294,
          "cds_start": 2723,
          "cds_end": null,
          "cds_length": 3885,
          "cdna_start": 2898,
          "cdna_end": null,
          "cdna_length": 4674,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001382784.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ERBB2",
          "gene_hgnc_id": 3430,
          "hgvs_c": "c.2723T>C",
          "hgvs_p": "p.Leu908Pro",
          "transcript": "ENST00000578502.2",
          "protein_id": "ENSP00000464420.2",
          "transcript_support_level": 5,
          "aa_start": 908,
          "aa_end": null,
          "aa_length": 1294,
          "cds_start": 2723,
          "cds_end": null,
          "cds_length": 3885,
          "cdna_start": 2898,
          "cdna_end": null,
          "cdna_length": 4674,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000578502.2"
        },
        {
          "aa_ref": "L",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ERBB2",
          "gene_hgnc_id": 3430,
          "hgvs_c": "c.2708T>C",
          "hgvs_p": "p.Leu903Pro",
          "transcript": "NM_001382785.1",
          "protein_id": "NP_001369714.1",
          "transcript_support_level": null,
          "aa_start": 903,
          "aa_end": null,
          "aa_length": 1289,
          "cds_start": 2708,
          "cds_end": null,
          "cds_length": 3870,
          "cdna_start": 2883,
          "cdna_end": null,
          "cdna_length": 4659,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001382785.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ERBB2",
          "gene_hgnc_id": 3430,
          "hgvs_c": "c.2708T>C",
          "hgvs_p": "p.Leu903Pro",
          "transcript": "ENST00000938924.1",
          "protein_id": "ENSP00000608983.1",
          "transcript_support_level": null,
          "aa_start": 903,
          "aa_end": null,
          "aa_length": 1289,
          "cds_start": 2708,
          "cds_end": null,
          "cds_length": 3870,
          "cdna_start": 2882,
          "cdna_end": null,
          "cdna_length": 4657,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000938924.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ERBB2",
          "gene_hgnc_id": 3430,
          "hgvs_c": "c.2687T>C",
          "hgvs_p": "p.Leu896Pro",
          "transcript": "NM_001382786.1",
          "protein_id": "NP_001369715.1",
          "transcript_support_level": null,
          "aa_start": 896,
          "aa_end": null,
          "aa_length": 1282,
          "cds_start": 2687,
          "cds_end": null,
          "cds_length": 3849,
          "cdna_start": 2862,
          "cdna_end": null,
          "cdna_length": 4638,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001382786.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ERBB2",
          "gene_hgnc_id": 3430,
          "hgvs_c": "c.2681T>C",
          "hgvs_p": "p.Leu894Pro",
          "transcript": "NM_001382787.1",
          "protein_id": "NP_001369716.1",
          "transcript_support_level": null,
          "aa_start": 894,
          "aa_end": null,
          "aa_length": 1280,
          "cds_start": 2681,
          "cds_end": null,
          "cds_length": 3843,
          "cdna_start": 2856,
          "cdna_end": null,
          "cdna_length": 4632,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001382787.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ERBB2",
          "gene_hgnc_id": 3430,
          "hgvs_c": "c.2639T>C",
          "hgvs_p": "p.Leu880Pro",
          "transcript": "ENST00000959774.1",
          "protein_id": "ENSP00000629833.1",
          "transcript_support_level": null,
          "aa_start": 880,
          "aa_end": null,
          "aa_length": 1266,
          "cds_start": 2639,
          "cds_end": null,
          "cds_length": 3801,
          "cdna_start": 2887,
          "cdna_end": null,
          "cdna_length": 4657,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000959774.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ERBB2",
          "gene_hgnc_id": 3430,
          "hgvs_c": "c.2636T>C",
          "hgvs_p": "p.Leu879Pro",
          "transcript": "NM_001382788.1",
          "protein_id": "NP_001369717.1",
          "transcript_support_level": null,
          "aa_start": 879,
          "aa_end": null,
          "aa_length": 1265,
          "cds_start": 2636,
          "cds_end": null,
          "cds_length": 3798,
          "cdna_start": 2811,
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          "cdna_length": 4587,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001382788.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ERBB2",
          "gene_hgnc_id": 3430,
          "hgvs_c": "c.2636T>C",
          "hgvs_p": "p.Leu879Pro",
          "transcript": "ENST00000863103.1",
          "protein_id": "ENSP00000533162.1",
          "transcript_support_level": null,
          "aa_start": 879,
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          "cds_start": 2636,
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          "biotype": "protein_coding",
          "feature": "ENST00000863103.1"
        },
        {
          "aa_ref": "L",
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          "protein_coding": true,
          "strand": true,
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          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ERBB2",
          "gene_hgnc_id": 3430,
          "hgvs_c": "c.2627T>C",
          "hgvs_p": "p.Leu876Pro",
          "transcript": "NM_001382789.1",
          "protein_id": "NP_001369718.1",
          "transcript_support_level": null,
          "aa_start": 876,
          "aa_end": null,
          "aa_length": 1262,
          "cds_start": 2627,
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          "cds_length": 3789,
          "cdna_start": 2802,
          "cdna_end": null,
          "cdna_length": 4578,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001382789.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ERBB2",
          "gene_hgnc_id": 3430,
          "hgvs_c": "c.2603T>C",
          "hgvs_p": "p.Leu868Pro",
          "transcript": "NM_001382790.1",
          "protein_id": "NP_001369719.1",
          "transcript_support_level": null,
          "aa_start": 868,
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          "aa_length": 1254,
          "cds_start": 2603,
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          "cds_length": 3765,
          "cdna_start": 2778,
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          "cdna_length": 4554,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001382790.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ERBB2",
          "gene_hgnc_id": 3430,
          "hgvs_c": "c.2597T>C",
          "hgvs_p": "p.Leu866Pro",
          "transcript": "NM_001382791.1",
          "protein_id": "NP_001369720.1",
          "transcript_support_level": null,
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        },
        {
          "aa_ref": "L",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
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          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ERBB2",
          "gene_hgnc_id": 3430,
          "hgvs_c": "c.2597T>C",
          "hgvs_p": "p.Leu866Pro",
          "transcript": "ENST00000863096.1",
          "protein_id": "ENSP00000533155.1",
          "transcript_support_level": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000863096.1"
        },
        {
          "aa_ref": "L",
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          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
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          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ERBB2",
          "gene_hgnc_id": 3430,
          "hgvs_c": "c.2576T>C",
          "hgvs_p": "p.Leu859Pro",
          "transcript": "ENST00000863097.1",
          "protein_id": "ENSP00000533156.1",
          "transcript_support_level": null,
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          "aa_length": 1245,
          "cds_start": 2576,
          "cds_end": null,
          "cds_length": 3738,
          "cdna_start": 2868,
          "cdna_end": null,
          "cdna_length": 4648,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000863097.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ERBB2",
          "gene_hgnc_id": 3430,
          "hgvs_c": "c.2570T>C",
          "hgvs_p": "p.Leu857Pro",
          "transcript": "NM_001382792.1",
          "protein_id": "NP_001369721.1",
          "transcript_support_level": null,
          "aa_start": 857,
          "aa_end": null,
          "aa_length": 1243,
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}
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.