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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: 1-202729842-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=202729842&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "1",
      "pos": 202729842,
      "ref": "C",
      "alt": "T",
      "effect": "synonymous_variant",
      "transcript": "NM_001314042.2",
      "consequences": [
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM5B",
          "gene_hgnc_id": 18039,
          "hgvs_c": "c.4362G>A",
          "hgvs_p": "p.Glu1454Glu",
          "transcript": "NM_006618.5",
          "protein_id": "NP_006609.3",
          "transcript_support_level": null,
          "aa_start": 1454,
          "aa_end": null,
          "aa_length": 1544,
          "cds_start": 4362,
          "cds_end": null,
          "cds_length": 4635,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000367265.9",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_006618.5"
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM5B",
          "gene_hgnc_id": 18039,
          "hgvs_c": "c.4362G>A",
          "hgvs_p": "p.Glu1454Glu",
          "transcript": "ENST00000367265.9",
          "protein_id": "ENSP00000356234.3",
          "transcript_support_level": 1,
          "aa_start": 1454,
          "aa_end": null,
          "aa_length": 1544,
          "cds_start": 4362,
          "cds_end": null,
          "cds_length": 4635,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_006618.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000367265.9"
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM5B",
          "gene_hgnc_id": 18039,
          "hgvs_c": "c.4470G>A",
          "hgvs_p": "p.Glu1490Glu",
          "transcript": "ENST00000367264.7",
          "protein_id": "ENSP00000356233.2",
          "transcript_support_level": 1,
          "aa_start": 1490,
          "aa_end": null,
          "aa_length": 1580,
          "cds_start": 4470,
          "cds_end": null,
          "cds_length": 4743,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000367264.7"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM5B",
          "gene_hgnc_id": 18039,
          "hgvs_c": "n.1368G>A",
          "hgvs_p": null,
          "transcript": "ENST00000472822.6",
          "protein_id": null,
          "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": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "retained_intron",
          "feature": "ENST00000472822.6"
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM5B",
          "gene_hgnc_id": 18039,
          "hgvs_c": "c.4470G>A",
          "hgvs_p": "p.Glu1490Glu",
          "transcript": "NM_001314042.2",
          "protein_id": "NP_001300971.1",
          "transcript_support_level": null,
          "aa_start": 1490,
          "aa_end": null,
          "aa_length": 1580,
          "cds_start": 4470,
          "cds_end": null,
          "cds_length": 4743,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001314042.2"
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM5B",
          "gene_hgnc_id": 18039,
          "hgvs_c": "c.4380G>A",
          "hgvs_p": "p.Glu1460Glu",
          "transcript": "ENST00000949534.1",
          "protein_id": "ENSP00000619593.1",
          "transcript_support_level": null,
          "aa_start": 1460,
          "aa_end": null,
          "aa_length": 1550,
          "cds_start": 4380,
          "cds_end": null,
          "cds_length": 4653,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000949534.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM5B",
          "gene_hgnc_id": 18039,
          "hgvs_c": "c.4356G>A",
          "hgvs_p": "p.Glu1452Glu",
          "transcript": "ENST00000939933.1",
          "protein_id": "ENSP00000609992.1",
          "transcript_support_level": null,
          "aa_start": 1452,
          "aa_end": null,
          "aa_length": 1542,
          "cds_start": 4356,
          "cds_end": null,
          "cds_length": 4629,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000939933.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM5B",
          "gene_hgnc_id": 18039,
          "hgvs_c": "c.4347G>A",
          "hgvs_p": "p.Glu1449Glu",
          "transcript": "NM_001399817.1",
          "protein_id": "NP_001386746.1",
          "transcript_support_level": null,
          "aa_start": 1449,
          "aa_end": null,
          "aa_length": 1539,
          "cds_start": 4347,
          "cds_end": null,
          "cds_length": 4620,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001399817.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM5B",
          "gene_hgnc_id": 18039,
          "hgvs_c": "c.4347G>A",
          "hgvs_p": "p.Glu1449Glu",
          "transcript": "ENST00000648056.1",
          "protein_id": "ENSP00000497113.1",
          "transcript_support_level": null,
          "aa_start": 1449,
          "aa_end": null,
          "aa_length": 1539,
          "cds_start": 4347,
          "cds_end": null,
          "cds_length": 4620,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000648056.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM5B",
          "gene_hgnc_id": 18039,
          "hgvs_c": "c.4362G>A",
          "hgvs_p": "p.Glu1454Glu",
          "transcript": "ENST00000648338.1",
          "protein_id": "ENSP00000497564.1",
          "transcript_support_level": null,
          "aa_start": 1454,
          "aa_end": null,
          "aa_length": 1517,
          "cds_start": 4362,
          "cds_end": null,
          "cds_length": 4554,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000648338.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM5B",
          "gene_hgnc_id": 18039,
          "hgvs_c": "c.4362G>A",
          "hgvs_p": "p.Glu1454Glu",
          "transcript": "ENST00000648473.1",
          "protein_id": "ENSP00000497743.1",
          "transcript_support_level": null,
          "aa_start": 1454,
          "aa_end": null,
          "aa_length": 1505,
          "cds_start": 4362,
          "cds_end": null,
          "cds_length": 4518,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000648473.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM5B",
          "gene_hgnc_id": 18039,
          "hgvs_c": "c.4239G>A",
          "hgvs_p": "p.Glu1413Glu",
          "transcript": "ENST00000648469.1",
          "protein_id": "ENSP00000497827.1",
          "transcript_support_level": null,
          "aa_start": 1413,
          "aa_end": null,
          "aa_length": 1503,
          "cds_start": 4239,
          "cds_end": null,
          "cds_length": 4512,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000648469.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM5B",
          "gene_hgnc_id": 18039,
          "hgvs_c": "c.4227G>A",
          "hgvs_p": "p.Glu1409Glu",
          "transcript": "NM_001347591.2",
          "protein_id": "NP_001334520.1",
          "transcript_support_level": null,
          "aa_start": 1409,
          "aa_end": null,
          "aa_length": 1499,
          "cds_start": 4227,
          "cds_end": null,
          "cds_length": 4500,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001347591.2"
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM5B",
          "gene_hgnc_id": 18039,
          "hgvs_c": "c.4227G>A",
          "hgvs_p": "p.Glu1409Glu",
          "transcript": "ENST00000650569.1",
          "protein_id": "ENSP00000497671.1",
          "transcript_support_level": null,
          "aa_start": 1409,
          "aa_end": null,
          "aa_length": 1499,
          "cds_start": 4227,
          "cds_end": null,
          "cds_length": 4500,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000650569.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM5B",
          "gene_hgnc_id": 18039,
          "hgvs_c": "c.4221G>A",
          "hgvs_p": "p.Glu1407Glu",
          "transcript": "ENST00000939935.1",
          "protein_id": "ENSP00000609994.1",
          "transcript_support_level": null,
          "aa_start": 1407,
          "aa_end": null,
          "aa_length": 1497,
          "cds_start": 4221,
          "cds_end": null,
          "cds_length": 4494,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000939935.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM5B",
          "gene_hgnc_id": 18039,
          "hgvs_c": "c.4203G>A",
          "hgvs_p": "p.Glu1401Glu",
          "transcript": "ENST00000939934.1",
          "protein_id": "ENSP00000609993.1",
          "transcript_support_level": null,
          "aa_start": 1401,
          "aa_end": null,
          "aa_length": 1491,
          "cds_start": 4203,
          "cds_end": null,
          "cds_length": 4476,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000939934.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM5B",
          "gene_hgnc_id": 18039,
          "hgvs_c": "c.4191G>A",
          "hgvs_p": "p.Glu1397Glu",
          "transcript": "ENST00000939938.1",
          "protein_id": "ENSP00000609997.1",
          "transcript_support_level": null,
          "aa_start": 1397,
          "aa_end": null,
          "aa_length": 1487,
          "cds_start": 4191,
          "cds_end": null,
          "cds_length": 4464,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000939938.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM5B",
          "gene_hgnc_id": 18039,
          "hgvs_c": "c.4239G>A",
          "hgvs_p": "p.Glu1413Glu",
          "transcript": "ENST00000649770.1",
          "protein_id": "ENSP00000497288.1",
          "transcript_support_level": null,
          "aa_start": 1413,
          "aa_end": null,
          "aa_length": 1472,
          "cds_start": 4239,
          "cds_end": null,
          "cds_length": 4419,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000649770.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM5B",
          "gene_hgnc_id": 18039,
          "hgvs_c": "c.4020G>A",
          "hgvs_p": "p.Glu1340Glu",
          "transcript": "ENST00000939936.1",
          "protein_id": "ENSP00000609995.1",
          "transcript_support_level": null,
          "aa_start": 1340,
          "aa_end": null,
          "aa_length": 1430,
          "cds_start": 4020,
          "cds_end": null,
          "cds_length": 4293,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000939936.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KDM5B",
          "gene_hgnc_id": 18039,
          "hgvs_c": "c.3990G>A",
          "hgvs_p": "p.Glu1330Glu",
          "transcript": "ENST00000939937.1",
          "protein_id": "ENSP00000609996.1",
          "transcript_support_level": null,
          "aa_start": 1330,
          "aa_end": null,
          "aa_length": 1420,
          "cds_start": 3990,
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      "acmg_classification": "Benign",
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      "clinvar_disease": "not provided",
      "clinvar_classification": "Likely benign",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "LB:1",
      "phenotype_combined": "not provided",
      "pathogenicity_classification_combined": "Likely benign",
      "custom_annotations": null
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  "message": null
}