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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: 6-25600740-G-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=25600740&ref=G&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "6",
      "pos": 25600740,
      "ref": "G",
      "alt": "T",
      "effect": "synonymous_variant",
      "transcript": "NM_017640.6",
      "consequences": [
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 33,
          "exon_rank_end": null,
          "exon_count": 37,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CARMIL1",
          "gene_hgnc_id": 21581,
          "hgvs_c": "c.3546G>T",
          "hgvs_p": "p.Ala1182Ala",
          "transcript": "NM_017640.6",
          "protein_id": "NP_060110.4",
          "transcript_support_level": null,
          "aa_start": 1182,
          "aa_end": null,
          "aa_length": 1371,
          "cds_start": 3546,
          "cds_end": null,
          "cds_length": 4116,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000329474.7",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_017640.6"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 33,
          "exon_rank_end": null,
          "exon_count": 37,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CARMIL1",
          "gene_hgnc_id": 21581,
          "hgvs_c": "c.3546G>T",
          "hgvs_p": "p.Ala1182Ala",
          "transcript": "ENST00000329474.7",
          "protein_id": "ENSP00000331983.6",
          "transcript_support_level": 1,
          "aa_start": 1182,
          "aa_end": null,
          "aa_length": 1371,
          "cds_start": 3546,
          "cds_end": null,
          "cds_length": 4116,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_017640.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000329474.7"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 33,
          "exon_rank_end": null,
          "exon_count": 38,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CARMIL1",
          "gene_hgnc_id": 21581,
          "hgvs_c": "c.3546G>T",
          "hgvs_p": "p.Ala1182Ala",
          "transcript": "ENST00000865798.1",
          "protein_id": "ENSP00000535857.1",
          "transcript_support_level": null,
          "aa_start": 1182,
          "aa_end": null,
          "aa_length": 1421,
          "cds_start": 3546,
          "cds_end": null,
          "cds_length": 4266,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000865798.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 34,
          "exon_rank_end": null,
          "exon_count": 38,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CARMIL1",
          "gene_hgnc_id": 21581,
          "hgvs_c": "c.3546G>T",
          "hgvs_p": "p.Ala1182Ala",
          "transcript": "ENST00000911480.1",
          "protein_id": "ENSP00000581539.1",
          "transcript_support_level": null,
          "aa_start": 1182,
          "aa_end": null,
          "aa_length": 1371,
          "cds_start": 3546,
          "cds_end": null,
          "cds_length": 4116,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000911480.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 33,
          "exon_rank_end": null,
          "exon_count": 37,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CARMIL1",
          "gene_hgnc_id": 21581,
          "hgvs_c": "c.3546G>T",
          "hgvs_p": "p.Ala1182Ala",
          "transcript": "ENST00000911481.1",
          "protein_id": "ENSP00000581540.1",
          "transcript_support_level": null,
          "aa_start": 1182,
          "aa_end": null,
          "aa_length": 1370,
          "cds_start": 3546,
          "cds_end": null,
          "cds_length": 4113,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000911481.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 34,
          "exon_rank_end": null,
          "exon_count": 38,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CARMIL1",
          "gene_hgnc_id": 21581,
          "hgvs_c": "c.3558G>T",
          "hgvs_p": "p.Ala1186Ala",
          "transcript": "ENST00000967820.1",
          "protein_id": "ENSP00000637879.1",
          "transcript_support_level": null,
          "aa_start": 1186,
          "aa_end": null,
          "aa_length": 1369,
          "cds_start": 3558,
          "cds_end": null,
          "cds_length": 4110,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000967820.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 33,
          "exon_rank_end": null,
          "exon_count": 37,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CARMIL1",
          "gene_hgnc_id": 21581,
          "hgvs_c": "c.3546G>T",
          "hgvs_p": "p.Ala1182Ala",
          "transcript": "NM_001173977.2",
          "protein_id": "NP_001167448.1",
          "transcript_support_level": null,
          "aa_start": 1182,
          "aa_end": null,
          "aa_length": 1365,
          "cds_start": 3546,
          "cds_end": null,
          "cds_length": 4098,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001173977.2"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 33,
          "exon_rank_end": null,
          "exon_count": 37,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CARMIL1",
          "gene_hgnc_id": 21581,
          "hgvs_c": "c.3546G>T",
          "hgvs_p": "p.Ala1182Ala",
          "transcript": "ENST00000700669.1",
          "protein_id": "ENSP00000515137.1",
          "transcript_support_level": null,
          "aa_start": 1182,
          "aa_end": null,
          "aa_length": 1365,
          "cds_start": 3546,
          "cds_end": null,
          "cds_length": 4098,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000700669.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 32,
          "exon_rank_end": null,
          "exon_count": 36,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CARMIL1",
          "gene_hgnc_id": 21581,
          "hgvs_c": "c.3447G>T",
          "hgvs_p": "p.Ala1149Ala",
          "transcript": "ENST00000865797.1",
          "protein_id": "ENSP00000535856.1",
          "transcript_support_level": null,
          "aa_start": 1149,
          "aa_end": null,
          "aa_length": 1338,
          "cds_start": 3447,
          "cds_end": null,
          "cds_length": 4017,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000865797.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 34,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CARMIL1",
          "gene_hgnc_id": 21581,
          "hgvs_c": "c.3309G>T",
          "hgvs_p": "p.Ala1103Ala",
          "transcript": "ENST00000911482.1",
          "protein_id": "ENSP00000581541.1",
          "transcript_support_level": null,
          "aa_start": 1103,
          "aa_end": null,
          "aa_length": 1292,
          "cds_start": 3309,
          "cds_end": null,
          "cds_length": 3879,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000911482.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 34,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CARMIL1",
          "gene_hgnc_id": 21581,
          "hgvs_c": "c.3309G>T",
          "hgvs_p": "p.Ala1103Ala",
          "transcript": "ENST00000865799.1",
          "protein_id": "ENSP00000535858.1",
          "transcript_support_level": null,
          "aa_start": 1103,
          "aa_end": null,
          "aa_length": 1286,
          "cds_start": 3309,
          "cds_end": null,
          "cds_length": 3861,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000865799.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 35,
          "exon_rank_end": null,
          "exon_count": 40,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CARMIL1",
          "gene_hgnc_id": 21581,
          "hgvs_c": "c.3576G>T",
          "hgvs_p": "p.Ala1192Ala",
          "transcript": "XM_017011008.2",
          "protein_id": "XP_016866497.1",
          "transcript_support_level": null,
          "aa_start": 1192,
          "aa_end": null,
          "aa_length": 1431,
          "cds_start": 3576,
          "cds_end": null,
          "cds_length": 4296,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_017011008.2"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 35,
          "exon_rank_end": null,
          "exon_count": 40,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CARMIL1",
          "gene_hgnc_id": 21581,
          "hgvs_c": "c.3576G>T",
          "hgvs_p": "p.Ala1192Ala",
          "transcript": "XM_017011009.2",
          "protein_id": "XP_016866498.1",
          "transcript_support_level": null,
          "aa_start": 1192,
          "aa_end": null,
          "aa_length": 1430,
          "cds_start": 3576,
          "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": "XM_017011009.2"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 34,
          "exon_rank_end": null,
          "exon_count": 39,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CARMIL1",
          "gene_hgnc_id": 21581,
          "hgvs_c": "c.3564G>T",
          "hgvs_p": "p.Ala1188Ala",
          "transcript": "XM_017011010.2",
          "protein_id": "XP_016866499.1",
          "transcript_support_level": null,
          "aa_start": 1188,
          "aa_end": null,
          "aa_length": 1427,
          "cds_start": 3564,
          "cds_end": null,
          "cds_length": 4284,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_017011010.2"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 34,
          "exon_rank_end": null,
          "exon_count": 39,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CARMIL1",
          "gene_hgnc_id": 21581,
          "hgvs_c": "c.3558G>T",
          "hgvs_p": "p.Ala1186Ala",
          "transcript": "XM_017011011.2",
          "protein_id": "XP_016866500.1",
          "transcript_support_level": null,
          "aa_start": 1186,
          "aa_end": null,
          "aa_length": 1425,
          "cds_start": 3558,
          "cds_end": null,
          "cds_length": 4278,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_017011011.2"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 35,
          "exon_rank_end": null,
          "exon_count": 40,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CARMIL1",
          "gene_hgnc_id": 21581,
          "hgvs_c": "c.3576G>T",
          "hgvs_p": "p.Ala1192Ala",
          "transcript": "XM_017011012.2",
          "protein_id": "XP_016866501.1",
          "transcript_support_level": null,
          "aa_start": 1192,
          "aa_end": null,
          "aa_length": 1425,
          "cds_start": 3576,
          "cds_end": null,
          "cds_length": 4278,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_017011012.2"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 35,
          "exon_rank_end": null,
          "exon_count": 40,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CARMIL1",
          "gene_hgnc_id": 21581,
          "hgvs_c": "c.3576G>T",
          "hgvs_p": "p.Ala1192Ala",
          "transcript": "XM_024446484.2",
          "protein_id": "XP_024302252.1",
          "transcript_support_level": null,
          "aa_start": 1192,
          "aa_end": null,
          "aa_length": 1424,
          "cds_start": 3576,
          "cds_end": null,
          "cds_length": 4275,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_024446484.2"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 33,
          "exon_rank_end": null,
          "exon_count": 38,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CARMIL1",
          "gene_hgnc_id": 21581,
          "hgvs_c": "c.3546G>T",
          "hgvs_p": "p.Ala1182Ala",
          "transcript": "XM_005249218.2",
          "protein_id": "XP_005249275.1",
          "transcript_support_level": null,
          "aa_start": 1182,
          "aa_end": null,
          "aa_length": 1421,
          "cds_start": 3546,
          "cds_end": null,
          "cds_length": 4266,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_005249218.2"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 33,
          "exon_rank_end": null,
          "exon_count": 38,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CARMIL1",
          "gene_hgnc_id": 21581,
          "hgvs_c": "c.3546G>T",
          "hgvs_p": "p.Ala1182Ala",
          "transcript": "XM_047418994.1",
          "protein_id": "XP_047274950.1",
          "transcript_support_level": null,
          "aa_start": 1182,
          "aa_end": null,
          "aa_length": 1420,
          "cds_start": 3546,
          "cds_end": null,
          "cds_length": 4263,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047418994.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 34,
          "exon_rank_end": null,
          "exon_count": 39,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CARMIL1",
          "gene_hgnc_id": 21581,
          "hgvs_c": "c.3558G>T",
          "hgvs_p": "p.Ala1186Ala",
          "transcript": "XM_017011013.2",
          "protein_id": "XP_016866502.1",
          "transcript_support_level": null,
          "aa_start": 1186,
          "aa_end": null,
          "aa_length": 1419,
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      "computational_source_selected": "BayesDel_noAF",
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      "splice_source_selected": "max_spliceai",
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      "acmg_score": -3,
      "acmg_classification": "Likely_benign",
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      "acmg_by_gene": [
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            "BP7"
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          "verdict": "Likely_benign",
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      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}