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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: 7-100575281-A-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=100575281&ref=A&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "7",
      "pos": 100575281,
      "ref": "A",
      "alt": "G",
      "effect": "synonymous_variant",
      "transcript": "NM_002319.5",
      "consequences": [
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LRCH4",
          "gene_hgnc_id": 6691,
          "hgvs_c": "c.1878T>C",
          "hgvs_p": "p.Asp626Asp",
          "transcript": "NM_002319.5",
          "protein_id": "NP_002310.2",
          "transcript_support_level": null,
          "aa_start": 626,
          "aa_end": null,
          "aa_length": 683,
          "cds_start": 1878,
          "cds_end": null,
          "cds_length": 2052,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000310300.11",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_002319.5"
        },
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LRCH4",
          "gene_hgnc_id": 6691,
          "hgvs_c": "c.1878T>C",
          "hgvs_p": "p.Asp626Asp",
          "transcript": "ENST00000310300.11",
          "protein_id": "ENSP00000309689.6",
          "transcript_support_level": 1,
          "aa_start": 626,
          "aa_end": null,
          "aa_length": 683,
          "cds_start": 1878,
          "cds_end": null,
          "cds_length": 2052,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_002319.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000310300.11"
        },
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LRCH4",
          "gene_hgnc_id": 6691,
          "hgvs_c": "c.1890T>C",
          "hgvs_p": "p.Asp630Asp",
          "transcript": "ENST00000877649.1",
          "protein_id": "ENSP00000547708.1",
          "transcript_support_level": null,
          "aa_start": 630,
          "aa_end": null,
          "aa_length": 687,
          "cds_start": 1890,
          "cds_end": null,
          "cds_length": 2064,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000877649.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LRCH4",
          "gene_hgnc_id": 6691,
          "hgvs_c": "c.1875T>C",
          "hgvs_p": "p.Asp625Asp",
          "transcript": "ENST00000965051.1",
          "protein_id": "ENSP00000635110.1",
          "transcript_support_level": null,
          "aa_start": 625,
          "aa_end": null,
          "aa_length": 682,
          "cds_start": 1875,
          "cds_end": null,
          "cds_length": 2049,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000965051.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LRCH4",
          "gene_hgnc_id": 6691,
          "hgvs_c": "c.1872T>C",
          "hgvs_p": "p.Asp624Asp",
          "transcript": "ENST00000877651.1",
          "protein_id": "ENSP00000547710.1",
          "transcript_support_level": null,
          "aa_start": 624,
          "aa_end": null,
          "aa_length": 681,
          "cds_start": 1872,
          "cds_end": null,
          "cds_length": 2046,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000877651.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LRCH4",
          "gene_hgnc_id": 6691,
          "hgvs_c": "c.1872T>C",
          "hgvs_p": "p.Asp624Asp",
          "transcript": "ENST00000913367.1",
          "protein_id": "ENSP00000583426.1",
          "transcript_support_level": null,
          "aa_start": 624,
          "aa_end": null,
          "aa_length": 681,
          "cds_start": 1872,
          "cds_end": null,
          "cds_length": 2046,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000913367.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LRCH4",
          "gene_hgnc_id": 6691,
          "hgvs_c": "c.1863T>C",
          "hgvs_p": "p.Asp621Asp",
          "transcript": "ENST00000913368.1",
          "protein_id": "ENSP00000583427.1",
          "transcript_support_level": null,
          "aa_start": 621,
          "aa_end": null,
          "aa_length": 678,
          "cds_start": 1863,
          "cds_end": null,
          "cds_length": 2037,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000913368.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LRCH4",
          "gene_hgnc_id": 6691,
          "hgvs_c": "c.1815T>C",
          "hgvs_p": "p.Asp605Asp",
          "transcript": "ENST00000877644.1",
          "protein_id": "ENSP00000547703.1",
          "transcript_support_level": null,
          "aa_start": 605,
          "aa_end": null,
          "aa_length": 662,
          "cds_start": 1815,
          "cds_end": null,
          "cds_length": 1989,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000877644.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LRCH4",
          "gene_hgnc_id": 6691,
          "hgvs_c": "c.1809T>C",
          "hgvs_p": "p.Asp603Asp",
          "transcript": "ENST00000877643.1",
          "protein_id": "ENSP00000547702.1",
          "transcript_support_level": null,
          "aa_start": 603,
          "aa_end": null,
          "aa_length": 660,
          "cds_start": 1809,
          "cds_end": null,
          "cds_length": 1983,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000877643.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LRCH4",
          "gene_hgnc_id": 6691,
          "hgvs_c": "c.1803T>C",
          "hgvs_p": "p.Asp601Asp",
          "transcript": "ENST00000913369.1",
          "protein_id": "ENSP00000583428.1",
          "transcript_support_level": null,
          "aa_start": 601,
          "aa_end": null,
          "aa_length": 658,
          "cds_start": 1803,
          "cds_end": null,
          "cds_length": 1977,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000913369.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LRCH4",
          "gene_hgnc_id": 6691,
          "hgvs_c": "c.1800T>C",
          "hgvs_p": "p.Asp600Asp",
          "transcript": "ENST00000877650.1",
          "protein_id": "ENSP00000547709.1",
          "transcript_support_level": null,
          "aa_start": 600,
          "aa_end": null,
          "aa_length": 657,
          "cds_start": 1800,
          "cds_end": null,
          "cds_length": 1974,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000877650.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LRCH4",
          "gene_hgnc_id": 6691,
          "hgvs_c": "c.1770T>C",
          "hgvs_p": "p.Asp590Asp",
          "transcript": "ENST00000877647.1",
          "protein_id": "ENSP00000547706.1",
          "transcript_support_level": null,
          "aa_start": 590,
          "aa_end": null,
          "aa_length": 647,
          "cds_start": 1770,
          "cds_end": null,
          "cds_length": 1944,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000877647.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LRCH4",
          "gene_hgnc_id": 6691,
          "hgvs_c": "c.1761T>C",
          "hgvs_p": "p.Asp587Asp",
          "transcript": "ENST00000877642.1",
          "protein_id": "ENSP00000547701.1",
          "transcript_support_level": null,
          "aa_start": 587,
          "aa_end": null,
          "aa_length": 644,
          "cds_start": 1761,
          "cds_end": null,
          "cds_length": 1935,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000877642.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LRCH4",
          "gene_hgnc_id": 6691,
          "hgvs_c": "c.1740T>C",
          "hgvs_p": "p.Asp580Asp",
          "transcript": "ENST00000877648.1",
          "protein_id": "ENSP00000547707.1",
          "transcript_support_level": null,
          "aa_start": 580,
          "aa_end": null,
          "aa_length": 637,
          "cds_start": 1740,
          "cds_end": null,
          "cds_length": 1914,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000877648.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LRCH4",
          "gene_hgnc_id": 6691,
          "hgvs_c": "c.1692T>C",
          "hgvs_p": "p.Asp564Asp",
          "transcript": "ENST00000877641.1",
          "protein_id": "ENSP00000547700.1",
          "transcript_support_level": null,
          "aa_start": 564,
          "aa_end": null,
          "aa_length": 621,
          "cds_start": 1692,
          "cds_end": null,
          "cds_length": 1866,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000877641.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LRCH4",
          "gene_hgnc_id": 6691,
          "hgvs_c": "c.1662T>C",
          "hgvs_p": "p.Asp554Asp",
          "transcript": "ENST00000965052.1",
          "protein_id": "ENSP00000635111.1",
          "transcript_support_level": null,
          "aa_start": 554,
          "aa_end": null,
          "aa_length": 611,
          "cds_start": 1662,
          "cds_end": null,
          "cds_length": 1836,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000965052.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LRCH4",
          "gene_hgnc_id": 6691,
          "hgvs_c": "c.1653T>C",
          "hgvs_p": "p.Asp551Asp",
          "transcript": "ENST00000877646.1",
          "protein_id": "ENSP00000547705.1",
          "transcript_support_level": null,
          "aa_start": 551,
          "aa_end": null,
          "aa_length": 608,
          "cds_start": 1653,
          "cds_end": null,
          "cds_length": 1827,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000877646.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LRCH4",
          "gene_hgnc_id": 6691,
          "hgvs_c": "c.1599T>C",
          "hgvs_p": "p.Asp533Asp",
          "transcript": "ENST00000965053.1",
          "protein_id": "ENSP00000635112.1",
          "transcript_support_level": null,
          "aa_start": 533,
          "aa_end": null,
          "aa_length": 590,
          "cds_start": 1599,
          "cds_end": null,
          "cds_length": 1773,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000965053.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LRCH4",
          "gene_hgnc_id": 6691,
          "hgvs_c": "c.1890T>C",
          "hgvs_p": "p.Asp630Asp",
          "transcript": "XM_047420384.1",
          "protein_id": "XP_047276340.1",
          "transcript_support_level": null,
          "aa_start": 630,
          "aa_end": null,
          "aa_length": 687,
          "cds_start": 1890,
          "cds_end": null,
          "cds_length": 2064,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047420384.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LRCH4",
          "gene_hgnc_id": 6691,
          "hgvs_c": "c.1809T>C",
          "hgvs_p": "p.Asp603Asp",
          "transcript": "XM_047420387.1",
          "protein_id": "XP_047276343.1",
          "transcript_support_level": null,
          "aa_start": 603,
          "aa_end": null,
          "aa_length": 660,
          "cds_start": 1809,
          "cds_end": null,
          "cds_length": 1983,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047420387.1"
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      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
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  "message": null
}