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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: 9-129095437-A-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=129095437&ref=A&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "9",
      "pos": 129095437,
      "ref": "A",
      "alt": "C",
      "effect": "missense_variant",
      "transcript": "NM_001346546.2",
      "consequences": [
        {
          "aa_ref": "M",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CRAT",
          "gene_hgnc_id": 2342,
          "hgvs_c": "c.1841T>G",
          "hgvs_p": "p.Met614Arg",
          "transcript": "NM_000755.5",
          "protein_id": "NP_000746.3",
          "transcript_support_level": null,
          "aa_start": 614,
          "aa_end": null,
          "aa_length": 626,
          "cds_start": 1841,
          "cds_end": null,
          "cds_length": 1881,
          "cdna_start": 2125,
          "cdna_end": null,
          "cdna_length": 2768,
          "mane_select": "ENST00000318080.7",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_000755.5"
        },
        {
          "aa_ref": "M",
          "aa_alt": "R",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CRAT",
          "gene_hgnc_id": 2342,
          "hgvs_c": "c.1841T>G",
          "hgvs_p": "p.Met614Arg",
          "transcript": "ENST00000318080.7",
          "protein_id": "ENSP00000315013.2",
          "transcript_support_level": 1,
          "aa_start": 614,
          "aa_end": null,
          "aa_length": 626,
          "cds_start": 1841,
          "cds_end": null,
          "cds_length": 1881,
          "cdna_start": 2125,
          "cdna_end": null,
          "cdna_length": 2768,
          "mane_select": "NM_000755.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000318080.7"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CRAT",
          "gene_hgnc_id": 2342,
          "hgvs_c": "n.*1817T>G",
          "hgvs_p": null,
          "transcript": "ENST00000458362.5",
          "protein_id": "ENSP00000400367.1",
          "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": 2253,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000458362.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CRAT",
          "gene_hgnc_id": 2342,
          "hgvs_c": "n.*1817T>G",
          "hgvs_p": null,
          "transcript": "ENST00000458362.5",
          "protein_id": "ENSP00000400367.1",
          "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": 2253,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000458362.5"
        },
        {
          "aa_ref": "M",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CRAT",
          "gene_hgnc_id": 2342,
          "hgvs_c": "c.1982T>G",
          "hgvs_p": "p.Met661Arg",
          "transcript": "ENST00000943969.1",
          "protein_id": "ENSP00000614028.1",
          "transcript_support_level": null,
          "aa_start": 661,
          "aa_end": null,
          "aa_length": 673,
          "cds_start": 1982,
          "cds_end": null,
          "cds_length": 2022,
          "cdna_start": 2134,
          "cdna_end": null,
          "cdna_length": 2775,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000943969.1"
        },
        {
          "aa_ref": "M",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CRAT",
          "gene_hgnc_id": 2342,
          "hgvs_c": "c.1871T>G",
          "hgvs_p": "p.Met624Arg",
          "transcript": "ENST00000943961.1",
          "protein_id": "ENSP00000614020.1",
          "transcript_support_level": null,
          "aa_start": 624,
          "aa_end": null,
          "aa_length": 636,
          "cds_start": 1871,
          "cds_end": null,
          "cds_length": 1911,
          "cdna_start": 2111,
          "cdna_end": null,
          "cdna_length": 2752,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000943961.1"
        },
        {
          "aa_ref": "M",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CRAT",
          "gene_hgnc_id": 2342,
          "hgvs_c": "c.1844T>G",
          "hgvs_p": "p.Met615Arg",
          "transcript": "NM_001346546.2",
          "protein_id": "NP_001333475.2",
          "transcript_support_level": null,
          "aa_start": 615,
          "aa_end": null,
          "aa_length": 627,
          "cds_start": 1844,
          "cds_end": null,
          "cds_length": 1884,
          "cdna_start": 2300,
          "cdna_end": null,
          "cdna_length": 2943,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001346546.2"
        },
        {
          "aa_ref": "M",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CRAT",
          "gene_hgnc_id": 2342,
          "hgvs_c": "c.1841T>G",
          "hgvs_p": "p.Met614Arg",
          "transcript": "ENST00000943957.1",
          "protein_id": "ENSP00000614016.1",
          "transcript_support_level": null,
          "aa_start": 614,
          "aa_end": null,
          "aa_length": 626,
          "cds_start": 1841,
          "cds_end": null,
          "cds_length": 1881,
          "cdna_start": 2300,
          "cdna_end": null,
          "cdna_length": 2940,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000943957.1"
        },
        {
          "aa_ref": "M",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CRAT",
          "gene_hgnc_id": 2342,
          "hgvs_c": "c.1826T>G",
          "hgvs_p": "p.Met609Arg",
          "transcript": "ENST00000943966.1",
          "protein_id": "ENSP00000614025.1",
          "transcript_support_level": null,
          "aa_start": 609,
          "aa_end": null,
          "aa_length": 621,
          "cds_start": 1826,
          "cds_end": null,
          "cds_length": 1866,
          "cdna_start": 1999,
          "cdna_end": null,
          "cdna_length": 2639,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000943966.1"
        },
        {
          "aa_ref": "M",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CRAT",
          "gene_hgnc_id": 2342,
          "hgvs_c": "c.1814T>G",
          "hgvs_p": "p.Met605Arg",
          "transcript": "ENST00000943967.1",
          "protein_id": "ENSP00000614026.1",
          "transcript_support_level": null,
          "aa_start": 605,
          "aa_end": null,
          "aa_length": 617,
          "cds_start": 1814,
          "cds_end": null,
          "cds_length": 1854,
          "cdna_start": 1968,
          "cdna_end": null,
          "cdna_length": 2609,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000943967.1"
        },
        {
          "aa_ref": "M",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CRAT",
          "gene_hgnc_id": 2342,
          "hgvs_c": "c.1799T>G",
          "hgvs_p": "p.Met600Arg",
          "transcript": "ENST00000943963.1",
          "protein_id": "ENSP00000614022.1",
          "transcript_support_level": null,
          "aa_start": 600,
          "aa_end": null,
          "aa_length": 612,
          "cds_start": 1799,
          "cds_end": null,
          "cds_length": 1839,
          "cdna_start": 2015,
          "cdna_end": null,
          "cdna_length": 2654,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000943963.1"
        },
        {
          "aa_ref": "M",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CRAT",
          "gene_hgnc_id": 2342,
          "hgvs_c": "c.1787T>G",
          "hgvs_p": "p.Met596Arg",
          "transcript": "ENST00000868875.1",
          "protein_id": "ENSP00000538934.1",
          "transcript_support_level": null,
          "aa_start": 596,
          "aa_end": null,
          "aa_length": 608,
          "cds_start": 1787,
          "cds_end": null,
          "cds_length": 1827,
          "cdna_start": 2063,
          "cdna_end": null,
          "cdna_length": 2706,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000868875.1"
        },
        {
          "aa_ref": "M",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CRAT",
          "gene_hgnc_id": 2342,
          "hgvs_c": "c.1787T>G",
          "hgvs_p": "p.Met596Arg",
          "transcript": "ENST00000868877.1",
          "protein_id": "ENSP00000538936.1",
          "transcript_support_level": null,
          "aa_start": 596,
          "aa_end": null,
          "aa_length": 608,
          "cds_start": 1787,
          "cds_end": null,
          "cds_length": 1827,
          "cdna_start": 2061,
          "cdna_end": null,
          "cdna_length": 2704,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000868877.1"
        },
        {
          "aa_ref": "M",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CRAT",
          "gene_hgnc_id": 2342,
          "hgvs_c": "c.1781T>G",
          "hgvs_p": "p.Met594Arg",
          "transcript": "ENST00000868876.1",
          "protein_id": "ENSP00000538935.1",
          "transcript_support_level": null,
          "aa_start": 594,
          "aa_end": null,
          "aa_length": 606,
          "cds_start": 1781,
          "cds_end": null,
          "cds_length": 1821,
          "cdna_start": 2057,
          "cdna_end": null,
          "cdna_length": 2700,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000868876.1"
        },
        {
          "aa_ref": "M",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CRAT",
          "gene_hgnc_id": 2342,
          "hgvs_c": "c.1778T>G",
          "hgvs_p": "p.Met593Arg",
          "transcript": "NM_001257363.3",
          "protein_id": "NP_001244292.2",
          "transcript_support_level": null,
          "aa_start": 593,
          "aa_end": null,
          "aa_length": 605,
          "cds_start": 1778,
          "cds_end": null,
          "cds_length": 1818,
          "cdna_start": 2224,
          "cdna_end": null,
          "cdna_length": 2867,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001257363.3"
        },
        {
          "aa_ref": "M",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CRAT",
          "gene_hgnc_id": 2342,
          "hgvs_c": "c.1778T>G",
          "hgvs_p": "p.Met593Arg",
          "transcript": "NM_004003.4",
          "protein_id": "NP_003994.3",
          "transcript_support_level": null,
          "aa_start": 593,
          "aa_end": null,
          "aa_length": 605,
          "cds_start": 1778,
          "cds_end": null,
          "cds_length": 1818,
          "cdna_start": 2504,
          "cdna_end": null,
          "cdna_length": 3147,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_004003.4"
        },
        {
          "aa_ref": "M",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CRAT",
          "gene_hgnc_id": 2342,
          "hgvs_c": "c.1778T>G",
          "hgvs_p": "p.Met593Arg",
          "transcript": "ENST00000943968.1",
          "protein_id": "ENSP00000614027.1",
          "transcript_support_level": null,
          "aa_start": 593,
          "aa_end": null,
          "aa_length": 605,
          "cds_start": 1778,
          "cds_end": null,
          "cds_length": 1818,
          "cdna_start": 1931,
          "cdna_end": null,
          "cdna_length": 2572,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000943968.1"
        },
        {
          "aa_ref": "M",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CRAT",
          "gene_hgnc_id": 2342,
          "hgvs_c": "c.1775T>G",
          "hgvs_p": "p.Met592Arg",
          "transcript": "ENST00000943959.1",
          "protein_id": "ENSP00000614018.1",
          "transcript_support_level": null,
          "aa_start": 592,
          "aa_end": null,
          "aa_length": 604,
          "cds_start": 1775,
          "cds_end": null,
          "cds_length": 1815,
          "cdna_start": 2042,
          "cdna_end": null,
          "cdna_length": 2683,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000943959.1"
        },
        {
          "aa_ref": "M",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CRAT",
          "gene_hgnc_id": 2342,
          "hgvs_c": "c.1769T>G",
          "hgvs_p": "p.Met590Arg",
          "transcript": "NM_001346547.2",
          "protein_id": "NP_001333476.2",
          "transcript_support_level": null,
          "aa_start": 590,
          "aa_end": null,
          "aa_length": 602,
          "cds_start": 1769,
          "cds_end": null,
          "cds_length": 1809,
          "cdna_start": 2053,
          "cdna_end": null,
          "cdna_length": 2696,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001346547.2"
        },
        {
          "aa_ref": "M",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CRAT",
          "gene_hgnc_id": 2342,
          "hgvs_c": "c.1769T>G",
          "hgvs_p": "p.Met590Arg",
          "transcript": "ENST00000681627.1",
          "protein_id": "ENSP00000506267.1",
          "transcript_support_level": null,
          "aa_start": 590,
          "aa_end": null,
          "aa_length": 602,
          "cds_start": 1769,
          "cds_end": null,
          "cds_length": 1809,
          "cdna_start": 1997,
          "cdna_end": null,
          "cdna_length": 2623,
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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.