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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: 6-31148433-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=31148433&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "6",
      "pos": 31148433,
      "ref": "G",
      "alt": "A",
      "effect": "synonymous_variant",
      "transcript": "ENST00000396268.8",
      "consequences": [
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCHCR1",
          "gene_hgnc_id": 13930,
          "hgvs_c": "c.1552C>T",
          "hgvs_p": "p.Leu518Leu",
          "transcript": "NM_001105564.2",
          "protein_id": "NP_001099034.1",
          "transcript_support_level": null,
          "aa_start": 518,
          "aa_end": null,
          "aa_length": 871,
          "cds_start": 1552,
          "cds_end": null,
          "cds_length": 2616,
          "cdna_start": 1754,
          "cdna_end": null,
          "cdna_length": 2971,
          "mane_select": "ENST00000396268.8",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCHCR1",
          "gene_hgnc_id": 13930,
          "hgvs_c": "c.1552C>T",
          "hgvs_p": "p.Leu518Leu",
          "transcript": "ENST00000396268.8",
          "protein_id": "ENSP00000379566.3",
          "transcript_support_level": 1,
          "aa_start": 518,
          "aa_end": null,
          "aa_length": 871,
          "cds_start": 1552,
          "cds_end": null,
          "cds_length": 2616,
          "cdna_start": 1754,
          "cdna_end": null,
          "cdna_length": 2971,
          "mane_select": "NM_001105564.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCHCR1",
          "gene_hgnc_id": 13930,
          "hgvs_c": "c.1444C>T",
          "hgvs_p": "p.Leu482Leu",
          "transcript": "ENST00000451521.6",
          "protein_id": "ENSP00000401039.2",
          "transcript_support_level": 1,
          "aa_start": 482,
          "aa_end": null,
          "aa_length": 835,
          "cds_start": 1444,
          "cds_end": null,
          "cds_length": 2508,
          "cdna_start": 1451,
          "cdna_end": null,
          "cdna_length": 2587,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCHCR1",
          "gene_hgnc_id": 13930,
          "hgvs_c": "c.1285C>T",
          "hgvs_p": "p.Leu429Leu",
          "transcript": "ENST00000376266.9",
          "protein_id": "ENSP00000365442.5",
          "transcript_support_level": 1,
          "aa_start": 429,
          "aa_end": null,
          "aa_length": 782,
          "cds_start": 1285,
          "cds_end": null,
          "cds_length": 2349,
          "cdna_start": 1408,
          "cdna_end": null,
          "cdna_length": 2625,
          "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": 10,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCHCR1",
          "gene_hgnc_id": 13930,
          "hgvs_c": "n.1426C>T",
          "hgvs_p": null,
          "transcript": "ENST00000509552.5",
          "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": 2304,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCHCR1",
          "gene_hgnc_id": 13930,
          "hgvs_c": "c.1579C>T",
          "hgvs_p": "p.Leu527Leu",
          "transcript": "NM_001394641.1",
          "protein_id": "NP_001381570.1",
          "transcript_support_level": null,
          "aa_start": 527,
          "aa_end": null,
          "aa_length": 880,
          "cds_start": 1579,
          "cds_end": null,
          "cds_length": 2643,
          "cdna_start": 1781,
          "cdna_end": null,
          "cdna_length": 2998,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCHCR1",
          "gene_hgnc_id": 13930,
          "hgvs_c": "c.1444C>T",
          "hgvs_p": "p.Leu482Leu",
          "transcript": "NM_001105563.3",
          "protein_id": "NP_001099033.1",
          "transcript_support_level": null,
          "aa_start": 482,
          "aa_end": null,
          "aa_length": 835,
          "cds_start": 1444,
          "cds_end": null,
          "cds_length": 2508,
          "cdna_start": 1646,
          "cdna_end": null,
          "cdna_length": 2863,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCHCR1",
          "gene_hgnc_id": 13930,
          "hgvs_c": "c.1285C>T",
          "hgvs_p": "p.Leu429Leu",
          "transcript": "NM_001394642.1",
          "protein_id": "NP_001381571.1",
          "transcript_support_level": null,
          "aa_start": 429,
          "aa_end": null,
          "aa_length": 782,
          "cds_start": 1285,
          "cds_end": null,
          "cds_length": 2349,
          "cdna_start": 1483,
          "cdna_end": null,
          "cdna_length": 2700,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCHCR1",
          "gene_hgnc_id": 13930,
          "hgvs_c": "c.1285C>T",
          "hgvs_p": "p.Leu429Leu",
          "transcript": "NM_001394643.1",
          "protein_id": "NP_001381572.1",
          "transcript_support_level": null,
          "aa_start": 429,
          "aa_end": null,
          "aa_length": 782,
          "cds_start": 1285,
          "cds_end": null,
          "cds_length": 2349,
          "cdna_start": 1510,
          "cdna_end": null,
          "cdna_length": 2727,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCHCR1",
          "gene_hgnc_id": 13930,
          "hgvs_c": "c.1285C>T",
          "hgvs_p": "p.Leu429Leu",
          "transcript": "NM_001394644.1",
          "protein_id": "NP_001381573.1",
          "transcript_support_level": null,
          "aa_start": 429,
          "aa_end": null,
          "aa_length": 782,
          "cds_start": 1285,
          "cds_end": null,
          "cds_length": 2349,
          "cdna_start": 1433,
          "cdna_end": null,
          "cdna_length": 2650,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCHCR1",
          "gene_hgnc_id": 13930,
          "hgvs_c": "c.1285C>T",
          "hgvs_p": "p.Leu429Leu",
          "transcript": "NM_019052.4",
          "protein_id": "NP_061925.2",
          "transcript_support_level": null,
          "aa_start": 429,
          "aa_end": null,
          "aa_length": 782,
          "cds_start": 1285,
          "cds_end": null,
          "cds_length": 2349,
          "cdna_start": 1367,
          "cdna_end": null,
          "cdna_length": 2584,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCHCR1",
          "gene_hgnc_id": 13930,
          "hgvs_c": "c.1276C>T",
          "hgvs_p": "p.Leu426Leu",
          "transcript": "NM_001394646.1",
          "protein_id": "NP_001381575.1",
          "transcript_support_level": null,
          "aa_start": 426,
          "aa_end": null,
          "aa_length": 779,
          "cds_start": 1276,
          "cds_end": null,
          "cds_length": 2340,
          "cdna_start": 1474,
          "cdna_end": null,
          "cdna_length": 2691,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCHCR1",
          "gene_hgnc_id": 13930,
          "hgvs_c": "c.1207C>T",
          "hgvs_p": "p.Leu403Leu",
          "transcript": "NM_001394647.1",
          "protein_id": "NP_001381576.1",
          "transcript_support_level": null,
          "aa_start": 403,
          "aa_end": null,
          "aa_length": 756,
          "cds_start": 1207,
          "cds_end": null,
          "cds_length": 2271,
          "cdna_start": 1300,
          "cdna_end": null,
          "cdna_length": 2517,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCHCR1",
          "gene_hgnc_id": 13930,
          "hgvs_c": "c.1177C>T",
          "hgvs_p": "p.Leu393Leu",
          "transcript": "NM_001394648.1",
          "protein_id": "NP_001381577.1",
          "transcript_support_level": null,
          "aa_start": 393,
          "aa_end": null,
          "aa_length": 746,
          "cds_start": 1177,
          "cds_end": null,
          "cds_length": 2241,
          "cdna_start": 1259,
          "cdna_end": null,
          "cdna_length": 2476,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCHCR1",
          "gene_hgnc_id": 13930,
          "hgvs_c": "c.1285C>T",
          "hgvs_p": "p.Leu429Leu",
          "transcript": "ENST00000396263.6",
          "protein_id": "ENSP00000379561.2",
          "transcript_support_level": 5,
          "aa_start": 429,
          "aa_end": null,
          "aa_length": 729,
          "cds_start": 1285,
          "cds_end": null,
          "cds_length": 2190,
          "cdna_start": 1437,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCHCR1",
          "gene_hgnc_id": 13930,
          "hgvs_c": "c.928C>T",
          "hgvs_p": "p.Leu310Leu",
          "transcript": "NM_001394649.1",
          "protein_id": "NP_001381578.1",
          "transcript_support_level": null,
          "aa_start": 310,
          "aa_end": null,
          "aa_length": 663,
          "cds_start": 928,
          "cds_end": null,
          "cds_length": 1992,
          "cdna_start": 1086,
          "cdna_end": null,
          "cdna_length": 2303,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCHCR1",
          "gene_hgnc_id": 13930,
          "hgvs_c": "c.1471C>T",
          "hgvs_p": "p.Leu491Leu",
          "transcript": "XM_011514702.3",
          "protein_id": "XP_011513004.1",
          "transcript_support_level": null,
          "aa_start": 491,
          "aa_end": null,
          "aa_length": 844,
          "cds_start": 1471,
          "cds_end": null,
          "cds_length": 2535,
          "cdna_start": 1673,
          "cdna_end": null,
          "cdna_length": 2890,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCHCR1",
          "gene_hgnc_id": 13930,
          "hgvs_c": "c.1285C>T",
          "hgvs_p": "p.Leu429Leu",
          "transcript": "XM_017010963.2",
          "protein_id": "XP_016866452.1",
          "transcript_support_level": null,
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          "aa_end": null,
          "aa_length": 782,
          "cds_start": 1285,
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          "cdna_start": 1678,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCHCR1",
          "gene_hgnc_id": 13930,
          "hgvs_c": "c.1285C>T",
          "hgvs_p": "p.Leu429Leu",
          "transcript": "XM_017010964.2",
          "protein_id": "XP_016866453.1",
          "transcript_support_level": null,
          "aa_start": 429,
          "aa_end": null,
          "aa_length": 782,
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          "cdna_start": 1535,
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          "cdna_length": 2752,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CCHCR1",
          "gene_hgnc_id": 13930,
          "hgvs_c": "c.1285C>T",
          "hgvs_p": "p.Leu429Leu",
          "transcript": "XM_017010966.2",
          "protein_id": "XP_016866455.1",
          "transcript_support_level": null,
          "aa_start": 429,
          "aa_end": null,
          "aa_length": 782,
          "cds_start": 1285,
          "cds_end": null,
          "cds_length": 2349,
          "cdna_start": 1523,
          "cdna_end": null,
          "cdna_length": 2740,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
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      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
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}