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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: 15-63612344-C-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=63612344&ref=C&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "15",
      "pos": 63612344,
      "ref": "C",
      "alt": "G",
      "effect": "synonymous_variant",
      "transcript": "ENST00000443617.7",
      "consequences": [
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 77,
          "exon_rank_end": null,
          "exon_count": 78,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC1",
          "gene_hgnc_id": 4867,
          "hgvs_c": "c.14307G>C",
          "hgvs_p": "p.Arg4769Arg",
          "transcript": "NM_003922.4",
          "protein_id": "NP_003913.3",
          "transcript_support_level": null,
          "aa_start": 4769,
          "aa_end": null,
          "aa_length": 4861,
          "cds_start": 14307,
          "cds_end": null,
          "cds_length": 14586,
          "cdna_start": 14455,
          "cdna_end": null,
          "cdna_length": 15197,
          "mane_select": "ENST00000443617.7",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 77,
          "exon_rank_end": null,
          "exon_count": 78,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC1",
          "gene_hgnc_id": 4867,
          "hgvs_c": "c.14307G>C",
          "hgvs_p": "p.Arg4769Arg",
          "transcript": "ENST00000443617.7",
          "protein_id": "ENSP00000390158.2",
          "transcript_support_level": 1,
          "aa_start": 4769,
          "aa_end": null,
          "aa_length": 4861,
          "cds_start": 14307,
          "cds_end": null,
          "cds_length": 14586,
          "cdna_start": 14455,
          "cdna_end": null,
          "cdna_length": 15197,
          "mane_select": "NM_003922.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 78,
          "exon_rank_end": null,
          "exon_count": 79,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC1",
          "gene_hgnc_id": 4867,
          "hgvs_c": "c.14451G>C",
          "hgvs_p": "p.Arg4817Arg",
          "transcript": "XM_047433210.1",
          "protein_id": "XP_047289166.1",
          "transcript_support_level": null,
          "aa_start": 4817,
          "aa_end": null,
          "aa_length": 4909,
          "cds_start": 14451,
          "cds_end": null,
          "cds_length": 14730,
          "cdna_start": 14604,
          "cdna_end": null,
          "cdna_length": 15346,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 78,
          "exon_rank_end": null,
          "exon_count": 79,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC1",
          "gene_hgnc_id": 4867,
          "hgvs_c": "c.14448G>C",
          "hgvs_p": "p.Arg4816Arg",
          "transcript": "XM_047433211.1",
          "protein_id": "XP_047289167.1",
          "transcript_support_level": null,
          "aa_start": 4816,
          "aa_end": null,
          "aa_length": 4908,
          "cds_start": 14448,
          "cds_end": null,
          "cds_length": 14727,
          "cdna_start": 14601,
          "cdna_end": null,
          "cdna_length": 15343,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 78,
          "exon_rank_end": null,
          "exon_count": 79,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC1",
          "gene_hgnc_id": 4867,
          "hgvs_c": "c.14430G>C",
          "hgvs_p": "p.Arg4810Arg",
          "transcript": "XM_047433213.1",
          "protein_id": "XP_047289169.1",
          "transcript_support_level": null,
          "aa_start": 4810,
          "aa_end": null,
          "aa_length": 4902,
          "cds_start": 14430,
          "cds_end": null,
          "cds_length": 14709,
          "cdna_start": 14583,
          "cdna_end": null,
          "cdna_length": 15325,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 78,
          "exon_rank_end": null,
          "exon_count": 79,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC1",
          "gene_hgnc_id": 4867,
          "hgvs_c": "c.14427G>C",
          "hgvs_p": "p.Arg4809Arg",
          "transcript": "XM_047433214.1",
          "protein_id": "XP_047289170.1",
          "transcript_support_level": null,
          "aa_start": 4809,
          "aa_end": null,
          "aa_length": 4901,
          "cds_start": 14427,
          "cds_end": null,
          "cds_length": 14706,
          "cdna_start": 14580,
          "cdna_end": null,
          "cdna_length": 15322,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 78,
          "exon_rank_end": null,
          "exon_count": 79,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC1",
          "gene_hgnc_id": 4867,
          "hgvs_c": "c.14427G>C",
          "hgvs_p": "p.Arg4809Arg",
          "transcript": "XM_047433215.1",
          "protein_id": "XP_047289171.1",
          "transcript_support_level": null,
          "aa_start": 4809,
          "aa_end": null,
          "aa_length": 4901,
          "cds_start": 14427,
          "cds_end": null,
          "cds_length": 14706,
          "cdna_start": 14580,
          "cdna_end": null,
          "cdna_length": 15322,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 78,
          "exon_rank_end": null,
          "exon_count": 79,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC1",
          "gene_hgnc_id": 4867,
          "hgvs_c": "c.14406G>C",
          "hgvs_p": "p.Arg4802Arg",
          "transcript": "XM_047433216.1",
          "protein_id": "XP_047289172.1",
          "transcript_support_level": null,
          "aa_start": 4802,
          "aa_end": null,
          "aa_length": 4894,
          "cds_start": 14406,
          "cds_end": null,
          "cds_length": 14685,
          "cdna_start": 14559,
          "cdna_end": null,
          "cdna_length": 15301,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 77,
          "exon_rank_end": null,
          "exon_count": 78,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC1",
          "gene_hgnc_id": 4867,
          "hgvs_c": "c.14400G>C",
          "hgvs_p": "p.Arg4800Arg",
          "transcript": "XM_017022702.2",
          "protein_id": "XP_016878191.1",
          "transcript_support_level": null,
          "aa_start": 4800,
          "aa_end": null,
          "aa_length": 4892,
          "cds_start": 14400,
          "cds_end": null,
          "cds_length": 14679,
          "cdna_start": 14548,
          "cdna_end": null,
          "cdna_length": 15290,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 78,
          "exon_rank_end": null,
          "exon_count": 79,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC1",
          "gene_hgnc_id": 4867,
          "hgvs_c": "c.14400G>C",
          "hgvs_p": "p.Arg4800Arg",
          "transcript": "XM_047433217.1",
          "protein_id": "XP_047289173.1",
          "transcript_support_level": null,
          "aa_start": 4800,
          "aa_end": null,
          "aa_length": 4892,
          "cds_start": 14400,
          "cds_end": null,
          "cds_length": 14679,
          "cdna_start": 14553,
          "cdna_end": null,
          "cdna_length": 15295,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 77,
          "exon_rank_end": null,
          "exon_count": 78,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC1",
          "gene_hgnc_id": 4867,
          "hgvs_c": "c.14400G>C",
          "hgvs_p": "p.Arg4800Arg",
          "transcript": "XM_047433218.1",
          "protein_id": "XP_047289174.1",
          "transcript_support_level": null,
          "aa_start": 4800,
          "aa_end": null,
          "aa_length": 4892,
          "cds_start": 14400,
          "cds_end": null,
          "cds_length": 14679,
          "cdna_start": 14553,
          "cdna_end": null,
          "cdna_length": 15295,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 77,
          "exon_rank_end": null,
          "exon_count": 78,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC1",
          "gene_hgnc_id": 4867,
          "hgvs_c": "c.14400G>C",
          "hgvs_p": "p.Arg4800Arg",
          "transcript": "XM_047433219.1",
          "protein_id": "XP_047289175.1",
          "transcript_support_level": null,
          "aa_start": 4800,
          "aa_end": null,
          "aa_length": 4892,
          "cds_start": 14400,
          "cds_end": null,
          "cds_length": 14679,
          "cdna_start": 14873,
          "cdna_end": null,
          "cdna_length": 15615,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 78,
          "exon_rank_end": null,
          "exon_count": 79,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC1",
          "gene_hgnc_id": 4867,
          "hgvs_c": "c.14397G>C",
          "hgvs_p": "p.Arg4799Arg",
          "transcript": "XM_047433220.1",
          "protein_id": "XP_047289176.1",
          "transcript_support_level": null,
          "aa_start": 4799,
          "aa_end": null,
          "aa_length": 4891,
          "cds_start": 14397,
          "cds_end": null,
          "cds_length": 14676,
          "cdna_start": 14550,
          "cdna_end": null,
          "cdna_length": 15292,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 78,
          "exon_rank_end": null,
          "exon_count": 79,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC1",
          "gene_hgnc_id": 4867,
          "hgvs_c": "c.14397G>C",
          "hgvs_p": "p.Arg4799Arg",
          "transcript": "XM_047433221.1",
          "protein_id": "XP_047289177.1",
          "transcript_support_level": null,
          "aa_start": 4799,
          "aa_end": null,
          "aa_length": 4891,
          "cds_start": 14397,
          "cds_end": null,
          "cds_length": 14676,
          "cdna_start": 14550,
          "cdna_end": null,
          "cdna_length": 15292,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 77,
          "exon_rank_end": null,
          "exon_count": 78,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC1",
          "gene_hgnc_id": 4867,
          "hgvs_c": "c.14397G>C",
          "hgvs_p": "p.Arg4799Arg",
          "transcript": "XM_047433222.1",
          "protein_id": "XP_047289178.1",
          "transcript_support_level": null,
          "aa_start": 4799,
          "aa_end": null,
          "aa_length": 4891,
          "cds_start": 14397,
          "cds_end": null,
          "cds_length": 14676,
          "cdna_start": 14550,
          "cdna_end": null,
          "cdna_length": 15292,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 78,
          "exon_rank_end": null,
          "exon_count": 79,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC1",
          "gene_hgnc_id": 4867,
          "hgvs_c": "c.14379G>C",
          "hgvs_p": "p.Arg4793Arg",
          "transcript": "XM_047433223.1",
          "protein_id": "XP_047289179.1",
          "transcript_support_level": null,
          "aa_start": 4793,
          "aa_end": null,
          "aa_length": 4885,
          "cds_start": 14379,
          "cds_end": null,
          "cds_length": 14658,
          "cdna_start": 14532,
          "cdna_end": null,
          "cdna_length": 15274,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 78,
          "exon_rank_end": null,
          "exon_count": 79,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC1",
          "gene_hgnc_id": 4867,
          "hgvs_c": "c.14376G>C",
          "hgvs_p": "p.Arg4792Arg",
          "transcript": "XM_047433224.1",
          "protein_id": "XP_047289180.1",
          "transcript_support_level": null,
          "aa_start": 4792,
          "aa_end": null,
          "aa_length": 4884,
          "cds_start": 14376,
          "cds_end": null,
          "cds_length": 14655,
          "cdna_start": 14529,
          "cdna_end": null,
          "cdna_length": 15271,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 78,
          "exon_rank_end": null,
          "exon_count": 79,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC1",
          "gene_hgnc_id": 4867,
          "hgvs_c": "c.14376G>C",
          "hgvs_p": "p.Arg4792Arg",
          "transcript": "XM_047433225.1",
          "protein_id": "XP_047289181.1",
          "transcript_support_level": null,
          "aa_start": 4792,
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          "aa_length": 4884,
          "cds_start": 14376,
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          "cdna_start": 14529,
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          "cdna_length": 15271,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 77,
          "exon_rank_end": null,
          "exon_count": 78,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC1",
          "gene_hgnc_id": 4867,
          "hgvs_c": "c.14376G>C",
          "hgvs_p": "p.Arg4792Arg",
          "transcript": "XM_047433226.1",
          "protein_id": "XP_047289182.1",
          "transcript_support_level": null,
          "aa_start": 4792,
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          "aa_length": 4884,
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          "cds_length": 14655,
          "cdna_start": 14529,
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          "cdna_length": 15271,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 77,
          "exon_rank_end": null,
          "exon_count": 78,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC1",
          "gene_hgnc_id": 4867,
          "hgvs_c": "c.14376G>C",
          "hgvs_p": "p.Arg4792Arg",
          "transcript": "XM_047433227.1",
          "protein_id": "XP_047289183.1",
          "transcript_support_level": null,
          "aa_start": 4792,
          "aa_end": null,
          "aa_length": 4884,
          "cds_start": 14376,
          "cds_end": null,
          "cds_length": 14655,
          "cdna_start": 14524,
          "cdna_end": null,
          "cdna_length": 15266,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 77,
          "exon_rank_end": null,
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      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
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      "custom_annotations": null
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}