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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: 17-39653571-C-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=39653571&ref=C&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "17",
      "pos": 39653571,
      "ref": "C",
      "alt": "A",
      "effect": "missense_variant",
      "transcript": "NM_006804.4",
      "consequences": [
        {
          "aa_ref": "R",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STARD3",
          "gene_hgnc_id": 17579,
          "hgvs_c": "c.40C>A",
          "hgvs_p": "p.Arg14Ser",
          "transcript": "NM_006804.4",
          "protein_id": "NP_006795.3",
          "transcript_support_level": null,
          "aa_start": 14,
          "aa_end": null,
          "aa_length": 445,
          "cds_start": 40,
          "cds_end": null,
          "cds_length": 1338,
          "cdna_start": 179,
          "cdna_end": null,
          "cdna_length": 2770,
          "mane_select": "ENST00000336308.10",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "S",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STARD3",
          "gene_hgnc_id": 17579,
          "hgvs_c": "c.40C>A",
          "hgvs_p": "p.Arg14Ser",
          "transcript": "ENST00000336308.10",
          "protein_id": "ENSP00000337446.5",
          "transcript_support_level": 1,
          "aa_start": 14,
          "aa_end": null,
          "aa_length": 445,
          "cds_start": 40,
          "cds_end": null,
          "cds_length": 1338,
          "cdna_start": 179,
          "cdna_end": null,
          "cdna_length": 2770,
          "mane_select": "NM_006804.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STARD3",
          "gene_hgnc_id": 17579,
          "hgvs_c": "c.40C>A",
          "hgvs_p": "p.Arg14Ser",
          "transcript": "ENST00000580611.5",
          "protein_id": "ENSP00000463613.1",
          "transcript_support_level": 5,
          "aa_start": 14,
          "aa_end": null,
          "aa_length": 475,
          "cds_start": 40,
          "cds_end": null,
          "cds_length": 1428,
          "cdna_start": 170,
          "cdna_end": null,
          "cdna_length": 1989,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STARD3",
          "gene_hgnc_id": 17579,
          "hgvs_c": "c.40C>A",
          "hgvs_p": "p.Arg14Ser",
          "transcript": "NM_001165937.2",
          "protein_id": "NP_001159409.1",
          "transcript_support_level": null,
          "aa_start": 14,
          "aa_end": null,
          "aa_length": 445,
          "cds_start": 40,
          "cds_end": null,
          "cds_length": 1338,
          "cdna_start": 179,
          "cdna_end": null,
          "cdna_length": 2770,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STARD3",
          "gene_hgnc_id": 17579,
          "hgvs_c": "c.40C>A",
          "hgvs_p": "p.Arg14Ser",
          "transcript": "ENST00000544210.6",
          "protein_id": "ENSP00000439869.2",
          "transcript_support_level": 2,
          "aa_start": 14,
          "aa_end": null,
          "aa_length": 445,
          "cds_start": 40,
          "cds_end": null,
          "cds_length": 1338,
          "cdna_start": 182,
          "cdna_end": null,
          "cdna_length": 1666,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STARD3",
          "gene_hgnc_id": 17579,
          "hgvs_c": "c.40C>A",
          "hgvs_p": "p.Arg14Ser",
          "transcript": "NM_001165938.2",
          "protein_id": "NP_001159410.1",
          "transcript_support_level": null,
          "aa_start": 14,
          "aa_end": null,
          "aa_length": 427,
          "cds_start": 40,
          "cds_end": null,
          "cds_length": 1284,
          "cdna_start": 179,
          "cdna_end": null,
          "cdna_length": 2716,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STARD3",
          "gene_hgnc_id": 17579,
          "hgvs_c": "c.40C>A",
          "hgvs_p": "p.Arg14Ser",
          "transcript": "ENST00000394250.8",
          "protein_id": "ENSP00000377794.4",
          "transcript_support_level": 2,
          "aa_start": 14,
          "aa_end": null,
          "aa_length": 427,
          "cds_start": 40,
          "cds_end": null,
          "cds_length": 1284,
          "cdna_start": 179,
          "cdna_end": null,
          "cdna_length": 1949,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STARD3",
          "gene_hgnc_id": 17579,
          "hgvs_c": "c.40C>A",
          "hgvs_p": "p.Arg14Ser",
          "transcript": "ENST00000443521.1",
          "protein_id": "ENSP00000411710.1",
          "transcript_support_level": 5,
          "aa_start": 14,
          "aa_end": null,
          "aa_length": 195,
          "cds_start": 40,
          "cds_end": null,
          "cds_length": 588,
          "cdna_start": 125,
          "cdna_end": null,
          "cdna_length": 673,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STARD3",
          "gene_hgnc_id": 17579,
          "hgvs_c": "c.40C>A",
          "hgvs_p": "p.Arg14Ser",
          "transcript": "ENST00000583419.5",
          "protein_id": "ENSP00000463681.1",
          "transcript_support_level": 4,
          "aa_start": 14,
          "aa_end": null,
          "aa_length": 160,
          "cds_start": 40,
          "cds_end": null,
          "cds_length": 485,
          "cdna_start": 134,
          "cdna_end": null,
          "cdna_length": 579,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STARD3",
          "gene_hgnc_id": 17579,
          "hgvs_c": "c.40C>A",
          "hgvs_p": "p.Arg14Ser",
          "transcript": "ENST00000577248.5",
          "protein_id": "ENSP00000463460.1",
          "transcript_support_level": 4,
          "aa_start": 14,
          "aa_end": null,
          "aa_length": 155,
          "cds_start": 40,
          "cds_end": null,
          "cds_length": 470,
          "cdna_start": 141,
          "cdna_end": null,
          "cdna_length": 571,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STARD3",
          "gene_hgnc_id": 17579,
          "hgvs_c": "c.40C>A",
          "hgvs_p": "p.Arg14Ser",
          "transcript": "ENST00000581894.5",
          "protein_id": "ENSP00000462859.1",
          "transcript_support_level": 3,
          "aa_start": 14,
          "aa_end": null,
          "aa_length": 117,
          "cds_start": 40,
          "cds_end": null,
          "cds_length": 356,
          "cdna_start": 275,
          "cdna_end": null,
          "cdna_length": 591,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STARD3",
          "gene_hgnc_id": 17579,
          "hgvs_c": "c.40C>A",
          "hgvs_p": "p.Arg14Ser",
          "transcript": "ENST00000583718.5",
          "protein_id": "ENSP00000464204.1",
          "transcript_support_level": 4,
          "aa_start": 14,
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          "cds_start": 40,
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          "cdna_start": 237,
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          "cdna_length": 550,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STARD3",
          "gene_hgnc_id": 17579,
          "hgvs_c": "c.40C>A",
          "hgvs_p": "p.Arg14Ser",
          "transcript": "ENST00000579479.5",
          "protein_id": "ENSP00000462483.1",
          "transcript_support_level": 4,
          "aa_start": 14,
          "aa_end": null,
          "aa_length": 110,
          "cds_start": 40,
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          "cdna_start": 267,
          "cdna_end": null,
          "cdna_length": 560,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
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          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 2,
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          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STARD3",
          "gene_hgnc_id": 17579,
          "hgvs_c": "c.40C>A",
          "hgvs_p": "p.Arg14Ser",
          "transcript": "ENST00000580331.5",
          "protein_id": "ENSP00000462541.1",
          "transcript_support_level": 4,
          "aa_start": 14,
          "aa_end": null,
          "aa_length": 87,
          "cds_start": 40,
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          "cds_length": 264,
          "cdna_start": 334,
          "cdna_end": null,
          "cdna_length": 558,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
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          "strand": true,
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          ],
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          "exon_rank_end": null,
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          "intron_rank": null,
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          "gene_symbol": "STARD3",
          "gene_hgnc_id": 17579,
          "hgvs_c": "c.40C>A",
          "hgvs_p": "p.Arg14Ser",
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          "protein_id": "XP_047291115.1",
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          "mane_select": null,
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        },
        {
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          ],
          "exon_rank": 2,
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          "intron_rank": null,
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          "gene_symbol": "STARD3",
          "gene_hgnc_id": 17579,
          "hgvs_c": "c.40C>A",
          "hgvs_p": "p.Arg14Ser",
          "transcript": "XM_047435160.1",
          "protein_id": "XP_047291116.1",
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          "aa_end": null,
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          "cdna_start": 174,
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          "cdna_length": 2788,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
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          ],
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          "exon_count": 15,
          "intron_rank": null,
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          "gene_symbol": "STARD3",
          "gene_hgnc_id": 17579,
          "hgvs_c": "c.40C>A",
          "hgvs_p": "p.Arg14Ser",
          "transcript": "XM_047435162.1",
          "protein_id": "XP_047291118.1",
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          "cdna_start": 463,
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          "cdna_length": 3077,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
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          "intron_rank": null,
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          "gene_symbol": "STARD3",
          "gene_hgnc_id": 17579,
          "hgvs_c": "c.40C>A",
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        {
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          ],
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          "gene_symbol": "STARD3",
          "gene_hgnc_id": 17579,
          "hgvs_c": "c.40C>A",
          "hgvs_p": "p.Arg14Ser",
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          "biotype": null,
          "feature": null
        },
        {
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          "protein_coding": true,
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          "consequences": [
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          ],
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          "intron_rank": null,
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          "gene_symbol": "STARD3",
          "gene_hgnc_id": 17579,
          "hgvs_c": "c.40C>A",
          "hgvs_p": "p.Arg14Ser",
          "transcript": "XM_017024041.3",
          "protein_id": "XP_016879530.1",
          "transcript_support_level": null,
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          "cds_start": 40,
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          "cdna_start": 174,
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          "cdna_length": 2765,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STARD3",
          "gene_hgnc_id": 17579,
          "hgvs_c": "c.40C>A",
          "hgvs_p": "p.Arg14Ser",
          "transcript": "XM_047435165.1",
          "protein_id": "XP_047291121.1",
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}