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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: X-154532439-A-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=154532439&ref=A&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "X",
      "pos": 154532439,
      "ref": "A",
      "alt": "C",
      "effect": "stop_gained",
      "transcript": "NM_000402.4",
      "consequences": [
        {
          "aa_ref": "Y",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "G6PD",
          "gene_hgnc_id": 4057,
          "hgvs_c": "c.1311T>G",
          "hgvs_p": "p.Tyr437*",
          "transcript": "NM_001360016.2",
          "protein_id": "NP_001346945.1",
          "transcript_support_level": null,
          "aa_start": 437,
          "aa_end": null,
          "aa_length": 515,
          "cds_start": 1311,
          "cds_end": null,
          "cds_length": 1548,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000393562.10",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001360016.2"
        },
        {
          "aa_ref": "Y",
          "aa_alt": "*",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "G6PD",
          "gene_hgnc_id": 4057,
          "hgvs_c": "c.1311T>G",
          "hgvs_p": "p.Tyr437*",
          "transcript": "ENST00000393562.10",
          "protein_id": "ENSP00000377192.3",
          "transcript_support_level": 1,
          "aa_start": 437,
          "aa_end": null,
          "aa_length": 515,
          "cds_start": 1311,
          "cds_end": null,
          "cds_length": 1548,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001360016.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000393562.10"
        },
        {
          "aa_ref": "Y",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "G6PD",
          "gene_hgnc_id": 4057,
          "hgvs_c": "c.1311T>G",
          "hgvs_p": "p.Tyr437*",
          "transcript": "ENST00000696421.1",
          "protein_id": "ENSP00000512616.1",
          "transcript_support_level": null,
          "aa_start": 437,
          "aa_end": null,
          "aa_length": 581,
          "cds_start": 1311,
          "cds_end": null,
          "cds_length": 1746,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000696421.1"
        },
        {
          "aa_ref": "Y",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "G6PD",
          "gene_hgnc_id": 4057,
          "hgvs_c": "c.1449T>G",
          "hgvs_p": "p.Tyr483*",
          "transcript": "ENST00000369620.6",
          "protein_id": "ENSP00000358633.2",
          "transcript_support_level": 5,
          "aa_start": 483,
          "aa_end": null,
          "aa_length": 561,
          "cds_start": 1449,
          "cds_end": null,
          "cds_length": 1686,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000369620.6"
        },
        {
          "aa_ref": "Y",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "G6PD",
          "gene_hgnc_id": 4057,
          "hgvs_c": "c.1449T>G",
          "hgvs_p": "p.Tyr483*",
          "transcript": "ENST00000915896.1",
          "protein_id": "ENSP00000585955.1",
          "transcript_support_level": null,
          "aa_start": 483,
          "aa_end": null,
          "aa_length": 561,
          "cds_start": 1449,
          "cds_end": null,
          "cds_length": 1686,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000915896.1"
        },
        {
          "aa_ref": "Y",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "G6PD",
          "gene_hgnc_id": 4057,
          "hgvs_c": "c.1401T>G",
          "hgvs_p": "p.Tyr467*",
          "transcript": "NM_000402.4",
          "protein_id": "NP_000393.4",
          "transcript_support_level": null,
          "aa_start": 467,
          "aa_end": null,
          "aa_length": 545,
          "cds_start": 1401,
          "cds_end": null,
          "cds_length": 1638,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_000402.4"
        },
        {
          "aa_ref": "Y",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "G6PD",
          "gene_hgnc_id": 4057,
          "hgvs_c": "c.1314T>G",
          "hgvs_p": "p.Tyr438*",
          "transcript": "ENST00000439227.6",
          "protein_id": "ENSP00000395599.2",
          "transcript_support_level": 5,
          "aa_start": 438,
          "aa_end": null,
          "aa_length": 516,
          "cds_start": 1314,
          "cds_end": null,
          "cds_length": 1551,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000439227.6"
        },
        {
          "aa_ref": "Y",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "G6PD",
          "gene_hgnc_id": 4057,
          "hgvs_c": "c.1314T>G",
          "hgvs_p": "p.Tyr438*",
          "transcript": "ENST00000907454.1",
          "protein_id": "ENSP00000577513.1",
          "transcript_support_level": null,
          "aa_start": 438,
          "aa_end": null,
          "aa_length": 516,
          "cds_start": 1314,
          "cds_end": null,
          "cds_length": 1551,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000907454.1"
        },
        {
          "aa_ref": "Y",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "G6PD",
          "gene_hgnc_id": 4057,
          "hgvs_c": "c.1314T>G",
          "hgvs_p": "p.Tyr438*",
          "transcript": "ENST00000915895.1",
          "protein_id": "ENSP00000585954.1",
          "transcript_support_level": null,
          "aa_start": 438,
          "aa_end": null,
          "aa_length": 516,
          "cds_start": 1314,
          "cds_end": null,
          "cds_length": 1551,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000915895.1"
        },
        {
          "aa_ref": "Y",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "G6PD",
          "gene_hgnc_id": 4057,
          "hgvs_c": "c.1311T>G",
          "hgvs_p": "p.Tyr437*",
          "transcript": "NM_001042351.3",
          "protein_id": "NP_001035810.1",
          "transcript_support_level": null,
          "aa_start": 437,
          "aa_end": null,
          "aa_length": 515,
          "cds_start": 1311,
          "cds_end": null,
          "cds_length": 1548,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001042351.3"
        },
        {
          "aa_ref": "Y",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "G6PD",
          "gene_hgnc_id": 4057,
          "hgvs_c": "c.1311T>G",
          "hgvs_p": "p.Tyr437*",
          "transcript": "ENST00000393564.7",
          "protein_id": "ENSP00000377194.2",
          "transcript_support_level": 5,
          "aa_start": 437,
          "aa_end": null,
          "aa_length": 515,
          "cds_start": 1311,
          "cds_end": null,
          "cds_length": 1548,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000393564.7"
        },
        {
          "aa_ref": "Y",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "G6PD",
          "gene_hgnc_id": 4057,
          "hgvs_c": "c.1311T>G",
          "hgvs_p": "p.Tyr437*",
          "transcript": "ENST00000696429.1",
          "protein_id": "ENSP00000512624.1",
          "transcript_support_level": null,
          "aa_start": 437,
          "aa_end": null,
          "aa_length": 515,
          "cds_start": 1311,
          "cds_end": null,
          "cds_length": 1548,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000696429.1"
        },
        {
          "aa_ref": "Y",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "G6PD",
          "gene_hgnc_id": 4057,
          "hgvs_c": "c.1311T>G",
          "hgvs_p": "p.Tyr437*",
          "transcript": "ENST00000696430.1",
          "protein_id": "ENSP00000512625.1",
          "transcript_support_level": null,
          "aa_start": 437,
          "aa_end": null,
          "aa_length": 515,
          "cds_start": 1311,
          "cds_end": null,
          "cds_length": 1548,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000696430.1"
        },
        {
          "aa_ref": "Y",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "G6PD",
          "gene_hgnc_id": 4057,
          "hgvs_c": "c.1311T>G",
          "hgvs_p": "p.Tyr437*",
          "transcript": "ENST00000907455.1",
          "protein_id": "ENSP00000577514.1",
          "transcript_support_level": null,
          "aa_start": 437,
          "aa_end": null,
          "aa_length": 515,
          "cds_start": 1311,
          "cds_end": null,
          "cds_length": 1548,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000907455.1"
        },
        {
          "aa_ref": "Y",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "G6PD",
          "gene_hgnc_id": 4057,
          "hgvs_c": "c.1311T>G",
          "hgvs_p": "p.Tyr437*",
          "transcript": "ENST00000907457.1",
          "protein_id": "ENSP00000577516.1",
          "transcript_support_level": null,
          "aa_start": 437,
          "aa_end": null,
          "aa_length": 515,
          "cds_start": 1311,
          "cds_end": null,
          "cds_length": 1548,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000907457.1"
        },
        {
          "aa_ref": "Y",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "G6PD",
          "gene_hgnc_id": 4057,
          "hgvs_c": "c.1311T>G",
          "hgvs_p": "p.Tyr437*",
          "transcript": "ENST00000915897.1",
          "protein_id": "ENSP00000585956.1",
          "transcript_support_level": null,
          "aa_start": 437,
          "aa_end": null,
          "aa_length": 515,
          "cds_start": 1311,
          "cds_end": null,
          "cds_length": 1548,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000915897.1"
        },
        {
          "aa_ref": "Y",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "G6PD",
          "gene_hgnc_id": 4057,
          "hgvs_c": "c.1305T>G",
          "hgvs_p": "p.Tyr435*",
          "transcript": "ENST00000968237.1",
          "protein_id": "ENSP00000638296.1",
          "transcript_support_level": null,
          "aa_start": 435,
          "aa_end": null,
          "aa_length": 513,
          "cds_start": 1305,
          "cds_end": null,
          "cds_length": 1542,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000968237.1"
        },
        {
          "aa_ref": "Y",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "G6PD",
          "gene_hgnc_id": 4057,
          "hgvs_c": "c.1311T>G",
          "hgvs_p": "p.Tyr437*",
          "transcript": "ENST00000696420.1",
          "protein_id": "ENSP00000512615.1",
          "transcript_support_level": null,
          "aa_start": 437,
          "aa_end": null,
          "aa_length": 491,
          "cds_start": 1311,
          "cds_end": null,
          "cds_length": 1476,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000696420.1"
        },
        {
          "aa_ref": "Y",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "G6PD",
          "gene_hgnc_id": 4057,
          "hgvs_c": "c.1176T>G",
          "hgvs_p": "p.Tyr392*",
          "transcript": "ENST00000696423.1",
          "protein_id": "ENSP00000512618.1",
          "transcript_support_level": null,
          "aa_start": 392,
          "aa_end": null,
          "aa_length": 470,
          "cds_start": 1176,
          "cds_end": null,
          "cds_length": 1413,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000696423.1"
        },
        {
          "aa_ref": "Y",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "G6PD",
          "gene_hgnc_id": 4057,
          "hgvs_c": "c.1173T>G",
          "hgvs_p": "p.Tyr391*",
          "transcript": "ENST00000696422.1",
          "protein_id": "ENSP00000512617.1",
          "transcript_support_level": null,
          "aa_start": 391,
          "aa_end": null,
          "aa_length": 469,
          "cds_start": 1173,
          "cds_end": null,
          "cds_length": 1410,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
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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.