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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: 21-36045589-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=36045589&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "21",
      "pos": 36045589,
      "ref": "T",
      "alt": "C",
      "effect": "missense_variant",
      "transcript": "ENST00000332131.9",
      "consequences": [
        {
          "aa_ref": "H",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SETD4",
          "gene_hgnc_id": 1258,
          "hgvs_c": "c.719A>G",
          "hgvs_p": "p.His240Arg",
          "transcript": "NM_017438.5",
          "protein_id": "NP_059134.1",
          "transcript_support_level": null,
          "aa_start": 240,
          "aa_end": null,
          "aa_length": 440,
          "cds_start": 719,
          "cds_end": null,
          "cds_length": 1323,
          "cdna_start": 935,
          "cdna_end": null,
          "cdna_length": 2991,
          "mane_select": "ENST00000332131.9",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "H",
          "aa_alt": "R",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SETD4",
          "gene_hgnc_id": 1258,
          "hgvs_c": "c.719A>G",
          "hgvs_p": "p.His240Arg",
          "transcript": "ENST00000332131.9",
          "protein_id": "ENSP00000329189.4",
          "transcript_support_level": 2,
          "aa_start": 240,
          "aa_end": null,
          "aa_length": 440,
          "cds_start": 719,
          "cds_end": null,
          "cds_length": 1323,
          "cdna_start": 935,
          "cdna_end": null,
          "cdna_length": 2991,
          "mane_select": "NM_017438.5",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "H",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SETD4",
          "gene_hgnc_id": 1258,
          "hgvs_c": "c.647A>G",
          "hgvs_p": "p.His216Arg",
          "transcript": "ENST00000399212.5",
          "protein_id": "ENSP00000382161.1",
          "transcript_support_level": 1,
          "aa_start": 216,
          "aa_end": null,
          "aa_length": 416,
          "cds_start": 647,
          "cds_end": null,
          "cds_length": 1251,
          "cdna_start": 1078,
          "cdna_end": null,
          "cdna_length": 3258,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "H",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SETD4",
          "gene_hgnc_id": 1258,
          "hgvs_c": "c.719A>G",
          "hgvs_p": "p.His240Arg",
          "transcript": "ENST00000399208.6",
          "protein_id": "ENSP00000382159.2",
          "transcript_support_level": 1,
          "aa_start": 240,
          "aa_end": null,
          "aa_length": 307,
          "cds_start": 719,
          "cds_end": null,
          "cds_length": 924,
          "cdna_start": 887,
          "cdna_end": null,
          "cdna_length": 1165,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "H",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SETD4",
          "gene_hgnc_id": 1258,
          "hgvs_c": "c.647A>G",
          "hgvs_p": "p.His216Arg",
          "transcript": "ENST00000399201.5",
          "protein_id": "ENSP00000382152.1",
          "transcript_support_level": 1,
          "aa_start": 216,
          "aa_end": null,
          "aa_length": 283,
          "cds_start": 647,
          "cds_end": null,
          "cds_length": 852,
          "cdna_start": 934,
          "cdna_end": null,
          "cdna_length": 1212,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "H",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SETD4",
          "gene_hgnc_id": 1258,
          "hgvs_c": "c.647A>G",
          "hgvs_p": "p.His216Arg",
          "transcript": "ENST00000399205.5",
          "protein_id": "ENSP00000382156.1",
          "transcript_support_level": 1,
          "aa_start": 216,
          "aa_end": null,
          "aa_length": 283,
          "cds_start": 647,
          "cds_end": null,
          "cds_length": 852,
          "cdna_start": 930,
          "cdna_end": null,
          "cdna_length": 1208,
          "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": 5,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SETD4",
          "gene_hgnc_id": 1258,
          "hgvs_c": "n.705A>G",
          "hgvs_p": null,
          "transcript": "ENST00000481477.5",
          "protein_id": null,
          "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": 2761,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "H",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SETD4",
          "gene_hgnc_id": 1258,
          "hgvs_c": "c.719A>G",
          "hgvs_p": "p.His240Arg",
          "transcript": "ENST00000399215.5",
          "protein_id": "ENSP00000382163.1",
          "transcript_support_level": 2,
          "aa_start": 240,
          "aa_end": null,
          "aa_length": 440,
          "cds_start": 719,
          "cds_end": null,
          "cds_length": 1323,
          "cdna_start": 2092,
          "cdna_end": null,
          "cdna_length": 4272,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "H",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SETD4",
          "gene_hgnc_id": 1258,
          "hgvs_c": "c.647A>G",
          "hgvs_p": "p.His216Arg",
          "transcript": "NM_001286752.2",
          "protein_id": "NP_001273681.1",
          "transcript_support_level": null,
          "aa_start": 216,
          "aa_end": null,
          "aa_length": 416,
          "cds_start": 647,
          "cds_end": null,
          "cds_length": 1251,
          "cdna_start": 1078,
          "cdna_end": null,
          "cdna_length": 3258,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "H",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SETD4",
          "gene_hgnc_id": 1258,
          "hgvs_c": "c.719A>G",
          "hgvs_p": "p.His240Arg",
          "transcript": "NM_001007259.3",
          "protein_id": "NP_001007260.1",
          "transcript_support_level": null,
          "aa_start": 240,
          "aa_end": null,
          "aa_length": 307,
          "cds_start": 719,
          "cds_end": null,
          "cds_length": 924,
          "cdna_start": 1049,
          "cdna_end": null,
          "cdna_length": 1329,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "H",
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 6,
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          "exon_count": 7,
          "intron_rank": null,
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          "gene_symbol": "SETD4",
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          "hgvs_c": "c.719A>G",
          "hgvs_p": "p.His240Arg",
          "transcript": "ENST00000399207.5",
          "protein_id": "ENSP00000382158.1",
          "transcript_support_level": 3,
          "aa_start": 240,
          "aa_end": null,
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          "cds_start": 719,
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          "cdna_start": 894,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "H",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
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          "gene_symbol": "SETD4",
          "gene_hgnc_id": 1258,
          "hgvs_c": "c.647A>G",
          "hgvs_p": "p.His216Arg",
          "transcript": "NM_001007261.3",
          "protein_id": "NP_001007262.1",
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          "mane_select": null,
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        {
          "aa_ref": "H",
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 6,
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          "intron_rank": null,
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          "gene_symbol": "SETD4",
          "gene_hgnc_id": 1258,
          "hgvs_c": "c.719A>G",
          "hgvs_p": "p.His240Arg",
          "transcript": "XM_011529636.3",
          "protein_id": "XP_011527938.1",
          "transcript_support_level": null,
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          "cdna_start": 984,
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        {
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          "protein_coding": true,
          "strand": false,
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          ],
          "exon_rank": 6,
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          "exon_count": 12,
          "intron_rank": null,
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          "gene_symbol": "SETD4",
          "gene_hgnc_id": 1258,
          "hgvs_c": "c.719A>G",
          "hgvs_p": "p.His240Arg",
          "transcript": "XM_011529637.3",
          "protein_id": "XP_011527939.1",
          "transcript_support_level": null,
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          "mane_select": null,
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        },
        {
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          ],
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          "gene_symbol": "SETD4",
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        {
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          "intron_rank": null,
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          "gene_symbol": "SETD4",
          "gene_hgnc_id": 1258,
          "hgvs_c": "c.719A>G",
          "hgvs_p": "p.His240Arg",
          "transcript": "XM_011529639.2",
          "protein_id": "XP_011527941.1",
          "transcript_support_level": null,
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        {
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          "strand": false,
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          "exon_rank": 6,
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          "intron_rank": null,
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          "gene_symbol": "SETD4",
          "gene_hgnc_id": 1258,
          "hgvs_c": "c.719A>G",
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          "transcript": "XM_011529640.4",
          "protein_id": "XP_011527942.1",
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        {
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          ],
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        {
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          "gene_symbol": "SETD4",
          "gene_hgnc_id": 1258,
          "hgvs_c": "c.647A>G",
          "hgvs_p": "p.His216Arg",
          "transcript": "XM_011529643.2",
          "protein_id": "XP_011527945.1",
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          "cdna_start": 1029,
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          "biotype": null,
          "feature": null
        },
        {
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          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
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          "exon_count": 13,
          "intron_rank": null,
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          "gene_symbol": "SETD4",
          "gene_hgnc_id": 1258,
          "hgvs_c": "c.647A>G",
          "hgvs_p": "p.His216Arg",
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}