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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: 20-63285688-G-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=63285688&ref=G&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "20",
      "pos": 63285688,
      "ref": "G",
      "alt": "C",
      "effect": "missense_variant",
      "transcript": "NM_018209.4",
      "consequences": [
        {
          "aa_ref": "S",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARFGAP1",
          "gene_hgnc_id": 15852,
          "hgvs_c": "c.809G>C",
          "hgvs_p": "p.Ser270Thr",
          "transcript": "NM_018209.4",
          "protein_id": "NP_060679.1",
          "transcript_support_level": null,
          "aa_start": 270,
          "aa_end": null,
          "aa_length": 406,
          "cds_start": 809,
          "cds_end": null,
          "cds_length": 1221,
          "cdna_start": 921,
          "cdna_end": null,
          "cdna_length": 3250,
          "mane_select": "ENST00000370283.9",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "T",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARFGAP1",
          "gene_hgnc_id": 15852,
          "hgvs_c": "c.809G>C",
          "hgvs_p": "p.Ser270Thr",
          "transcript": "ENST00000370283.9",
          "protein_id": "ENSP00000359306.4",
          "transcript_support_level": 1,
          "aa_start": 270,
          "aa_end": null,
          "aa_length": 406,
          "cds_start": 809,
          "cds_end": null,
          "cds_length": 1221,
          "cdna_start": 921,
          "cdna_end": null,
          "cdna_length": 3250,
          "mane_select": "NM_018209.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARFGAP1",
          "gene_hgnc_id": 15852,
          "hgvs_c": "c.839G>C",
          "hgvs_p": "p.Ser280Thr",
          "transcript": "ENST00000353546.7",
          "protein_id": "ENSP00000314615.3",
          "transcript_support_level": 1,
          "aa_start": 280,
          "aa_end": null,
          "aa_length": 414,
          "cds_start": 839,
          "cds_end": null,
          "cds_length": 1245,
          "cdna_start": 899,
          "cdna_end": null,
          "cdna_length": 2776,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARFGAP1",
          "gene_hgnc_id": 15852,
          "hgvs_c": "c.809G>C",
          "hgvs_p": "p.Ser270Thr",
          "transcript": "ENST00000370275.8",
          "protein_id": "ENSP00000359298.4",
          "transcript_support_level": 1,
          "aa_start": 270,
          "aa_end": null,
          "aa_length": 403,
          "cds_start": 809,
          "cds_end": null,
          "cds_length": 1212,
          "cdna_start": 901,
          "cdna_end": null,
          "cdna_length": 3467,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARFGAP1",
          "gene_hgnc_id": 15852,
          "hgvs_c": "n.843G>C",
          "hgvs_p": null,
          "transcript": "ENST00000518794.6",
          "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": 2727,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARFGAP1",
          "gene_hgnc_id": 15852,
          "hgvs_c": "c.839G>C",
          "hgvs_p": "p.Ser280Thr",
          "transcript": "NM_175609.3",
          "protein_id": "NP_783202.1",
          "transcript_support_level": null,
          "aa_start": 280,
          "aa_end": null,
          "aa_length": 414,
          "cds_start": 839,
          "cds_end": null,
          "cds_length": 1245,
          "cdna_start": 951,
          "cdna_end": null,
          "cdna_length": 3274,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARFGAP1",
          "gene_hgnc_id": 15852,
          "hgvs_c": "c.809G>C",
          "hgvs_p": "p.Ser270Thr",
          "transcript": "NM_001281482.2",
          "protein_id": "NP_001268411.1",
          "transcript_support_level": null,
          "aa_start": 270,
          "aa_end": null,
          "aa_length": 403,
          "cds_start": 809,
          "cds_end": null,
          "cds_length": 1212,
          "cdna_start": 921,
          "cdna_end": null,
          "cdna_length": 3489,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARFGAP1",
          "gene_hgnc_id": 15852,
          "hgvs_c": "c.680G>C",
          "hgvs_p": "p.Ser227Thr",
          "transcript": "NM_001281483.2",
          "protein_id": "NP_001268412.1",
          "transcript_support_level": null,
          "aa_start": 227,
          "aa_end": null,
          "aa_length": 361,
          "cds_start": 680,
          "cds_end": null,
          "cds_length": 1086,
          "cdna_start": 841,
          "cdna_end": null,
          "cdna_length": 3164,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARFGAP1",
          "gene_hgnc_id": 15852,
          "hgvs_c": "c.680G>C",
          "hgvs_p": "p.Ser227Thr",
          "transcript": "ENST00000519604.5",
          "protein_id": "ENSP00000430500.1",
          "transcript_support_level": 2,
          "aa_start": 227,
          "aa_end": null,
          "aa_length": 361,
          "cds_start": 680,
          "cds_end": null,
          "cds_length": 1086,
          "cdna_start": 869,
          "cdna_end": null,
          "cdna_length": 3191,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARFGAP1",
          "gene_hgnc_id": 15852,
          "hgvs_c": "c.617G>C",
          "hgvs_p": "p.Ser206Thr",
          "transcript": "ENST00000547204.5",
          "protein_id": "ENSP00000449800.1",
          "transcript_support_level": 2,
          "aa_start": 206,
          "aa_end": null,
          "aa_length": 340,
          "cds_start": 617,
          "cds_end": null,
          "cds_length": 1023,
          "cdna_start": 857,
          "cdna_end": null,
          "cdna_length": 1327,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARFGAP1",
          "gene_hgnc_id": 15852,
          "hgvs_c": "c.470G>C",
          "hgvs_p": "p.Ser157Thr",
          "transcript": "NM_001281484.2",
          "protein_id": "NP_001268413.1",
          "transcript_support_level": null,
          "aa_start": 157,
          "aa_end": null,
          "aa_length": 293,
          "cds_start": 470,
          "cds_end": null,
          "cds_length": 882,
          "cdna_start": 820,
          "cdna_end": null,
          "cdna_length": 3149,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARFGAP1",
          "gene_hgnc_id": 15852,
          "hgvs_c": "c.470G>C",
          "hgvs_p": "p.Ser157Thr",
          "transcript": "ENST00000519273.6",
          "protein_id": "ENSP00000443716.1",
          "transcript_support_level": 2,
          "aa_start": 157,
          "aa_end": null,
          "aa_length": 293,
          "cds_start": 470,
          "cds_end": null,
          "cds_length": 882,
          "cdna_start": 848,
          "cdna_end": null,
          "cdna_length": 3176,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARFGAP1",
          "gene_hgnc_id": 15852,
          "hgvs_c": "c.587G>C",
          "hgvs_p": "p.Ser196Thr",
          "transcript": "ENST00000549047.5",
          "protein_id": "ENSP00000447037.1",
          "transcript_support_level": 5,
          "aa_start": 196,
          "aa_end": null,
          "aa_length": 270,
          "cds_start": 587,
          "cds_end": null,
          "cds_length": 814,
          "cdna_start": 813,
          "cdna_end": null,
          "cdna_length": 1040,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARFGAP1",
          "gene_hgnc_id": 15852,
          "hgvs_c": "c.674G>C",
          "hgvs_p": "p.Ser225Thr",
          "transcript": "ENST00000518601.6",
          "protein_id": "ENSP00000429674.2",
          "transcript_support_level": 5,
          "aa_start": 225,
          "aa_end": null,
          "aa_length": 243,
          "cds_start": 674,
          "cds_end": null,
          "cds_length": 732,
          "cdna_start": 847,
          "cdna_end": null,
          "cdna_length": 905,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "T",
          "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": "ARFGAP1",
          "gene_hgnc_id": 15852,
          "hgvs_c": "c.77G>C",
          "hgvs_p": "p.Ser26Thr",
          "transcript": "ENST00000523460.5",
          "protein_id": "ENSP00000429770.1",
          "transcript_support_level": 4,
          "aa_start": 26,
          "aa_end": null,
          "aa_length": 152,
          "cds_start": 77,
          "cds_end": null,
          "cds_length": 460,
          "cdna_start": 189,
          "cdna_end": null,
          "cdna_length": 572,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARFGAP1",
          "gene_hgnc_id": 15852,
          "hgvs_c": "c.839G>C",
          "hgvs_p": "p.Ser280Thr",
          "transcript": "XM_011528901.2",
          "protein_id": "XP_011527203.1",
          "transcript_support_level": null,
          "aa_start": 280,
          "aa_end": null,
          "aa_length": 416,
          "cds_start": 839,
          "cds_end": null,
          "cds_length": 1251,
          "cdna_start": 951,
          "cdna_end": null,
          "cdna_length": 3280,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARFGAP1",
          "gene_hgnc_id": 15852,
          "hgvs_c": "c.839G>C",
          "hgvs_p": "p.Ser280Thr",
          "transcript": "XM_017027950.2",
          "protein_id": "XP_016883439.1",
          "transcript_support_level": null,
          "aa_start": 280,
          "aa_end": null,
          "aa_length": 416,
          "cds_start": 839,
          "cds_end": null,
          "cds_length": 1251,
          "cdna_start": 970,
          "cdna_end": null,
          "cdna_length": 3299,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARFGAP1",
          "gene_hgnc_id": 15852,
          "hgvs_c": "c.809G>C",
          "hgvs_p": "p.Ser270Thr",
          "transcript": "XM_047440287.1",
          "protein_id": "XP_047296243.1",
          "transcript_support_level": null,
          "aa_start": 270,
          "aa_end": null,
          "aa_length": 406,
          "cds_start": 809,
          "cds_end": null,
          "cds_length": 1221,
          "cdna_start": 1411,
          "cdna_end": null,
          "cdna_length": 3740,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARFGAP1",
          "gene_hgnc_id": 15852,
          "hgvs_c": "c.809G>C",
          "hgvs_p": "p.Ser270Thr",
          "transcript": "XM_006723823.3",
          "protein_id": "XP_006723886.1",
          "transcript_support_level": null,
          "aa_start": 270,
          "aa_end": null,
          "aa_length": 404,
          "cds_start": 809,
          "cds_end": null,
          "cds_length": 1215,
          "cdna_start": 921,
          "cdna_end": null,
          "cdna_length": 3244,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARFGAP1",
          "gene_hgnc_id": 15852,
          "hgvs_c": "c.809G>C",
          "hgvs_p": "p.Ser270Thr",
          "transcript": "XM_047440288.1",
          "protein_id": "XP_047296244.1",
          "transcript_support_level": null,
          "aa_start": 270,
          "aa_end": null,
          "aa_length": 404,
          "cds_start": 809,
          "cds_end": null,
          "cds_length": 1215,
          "cdna_start": 1411,
          "cdna_end": null,
          "cdna_length": 3734,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARFGAP1",
          "gene_hgnc_id": 15852,
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  "message": null
}