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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: 6-157206971-C-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=157206971&ref=C&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "6",
      "pos": 157206971,
      "ref": "C",
      "alt": "G",
      "effect": "missense_variant",
      "transcript": "ENST00000636930.2",
      "consequences": [
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARID1B",
          "gene_hgnc_id": 18040,
          "hgvs_c": "c.6199C>G",
          "hgvs_p": "p.Arg2067Gly",
          "transcript": "NM_001374828.1",
          "protein_id": "NP_001361757.1",
          "transcript_support_level": null,
          "aa_start": 2067,
          "aa_end": null,
          "aa_length": 2372,
          "cds_start": 6199,
          "cds_end": null,
          "cds_length": 7119,
          "cdna_start": 6502,
          "cdna_end": null,
          "cdna_length": 10310,
          "mane_select": "ENST00000636930.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARID1B",
          "gene_hgnc_id": 18040,
          "hgvs_c": "c.6199C>G",
          "hgvs_p": "p.Arg2067Gly",
          "transcript": "ENST00000636930.2",
          "protein_id": "ENSP00000490491.2",
          "transcript_support_level": 2,
          "aa_start": 2067,
          "aa_end": null,
          "aa_length": 2372,
          "cds_start": 6199,
          "cds_end": null,
          "cds_length": 7119,
          "cdna_start": 6502,
          "cdna_end": null,
          "cdna_length": 10310,
          "mane_select": "NM_001374828.1",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARID1B",
          "gene_hgnc_id": 18040,
          "hgvs_c": "c.6079C>G",
          "hgvs_p": "p.Arg2027Gly",
          "transcript": "ENST00000346085.10",
          "protein_id": "ENSP00000344546.5",
          "transcript_support_level": 1,
          "aa_start": 2027,
          "aa_end": null,
          "aa_length": 2332,
          "cds_start": 6079,
          "cds_end": null,
          "cds_length": 6999,
          "cdna_start": 7005,
          "cdna_end": null,
          "cdna_length": 10813,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARID1B",
          "gene_hgnc_id": 18040,
          "hgvs_c": "c.6040C>G",
          "hgvs_p": "p.Arg2014Gly",
          "transcript": "ENST00000350026.11",
          "protein_id": "ENSP00000055163.8",
          "transcript_support_level": 1,
          "aa_start": 2014,
          "aa_end": null,
          "aa_length": 2319,
          "cds_start": 6040,
          "cds_end": null,
          "cds_length": 6960,
          "cdna_start": 6040,
          "cdna_end": null,
          "cdna_length": 8211,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARID1B",
          "gene_hgnc_id": 18040,
          "hgvs_c": "c.3541C>G",
          "hgvs_p": "p.Arg1181Gly",
          "transcript": "ENST00000637810.1",
          "protein_id": "ENSP00000489636.1",
          "transcript_support_level": 1,
          "aa_start": 1181,
          "aa_end": null,
          "aa_length": 1486,
          "cds_start": 3541,
          "cds_end": null,
          "cds_length": 4461,
          "cdna_start": 3683,
          "cdna_end": null,
          "cdna_length": 5073,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARID1B",
          "gene_hgnc_id": 18040,
          "hgvs_c": "c.6328C>G",
          "hgvs_p": "p.Arg2110Gly",
          "transcript": "NM_001438482.1",
          "protein_id": "NP_001425411.1",
          "transcript_support_level": null,
          "aa_start": 2110,
          "aa_end": null,
          "aa_length": 2415,
          "cds_start": 6328,
          "cds_end": null,
          "cds_length": 7248,
          "cdna_start": 6631,
          "cdna_end": null,
          "cdna_length": 10439,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARID1B",
          "gene_hgnc_id": 18040,
          "hgvs_c": "c.6328C>G",
          "hgvs_p": "p.Arg2110Gly",
          "transcript": "ENST00000637015.2",
          "protein_id": "ENSP00000489729.2",
          "transcript_support_level": 5,
          "aa_start": 2110,
          "aa_end": null,
          "aa_length": 2415,
          "cds_start": 6328,
          "cds_end": null,
          "cds_length": 7248,
          "cdna_start": 6328,
          "cdna_end": null,
          "cdna_length": 8616,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARID1B",
          "gene_hgnc_id": 18040,
          "hgvs_c": "c.6241C>G",
          "hgvs_p": "p.Arg2081Gly",
          "transcript": "NM_001438483.1",
          "protein_id": "NP_001425412.1",
          "transcript_support_level": null,
          "aa_start": 2081,
          "aa_end": null,
          "aa_length": 2386,
          "cds_start": 6241,
          "cds_end": null,
          "cds_length": 7161,
          "cdna_start": 6544,
          "cdna_end": null,
          "cdna_length": 10352,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARID1B",
          "gene_hgnc_id": 18040,
          "hgvs_c": "c.6109C>G",
          "hgvs_p": "p.Arg2037Gly",
          "transcript": "NM_001438485.1",
          "protein_id": "NP_001425414.1",
          "transcript_support_level": null,
          "aa_start": 2037,
          "aa_end": null,
          "aa_length": 2342,
          "cds_start": 6109,
          "cds_end": null,
          "cds_length": 7029,
          "cdna_start": 6412,
          "cdna_end": null,
          "cdna_length": 10220,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARID1B",
          "gene_hgnc_id": 18040,
          "hgvs_c": "c.6109C>G",
          "hgvs_p": "p.Arg2037Gly",
          "transcript": "ENST00000414678.8",
          "protein_id": "ENSP00000412835.3",
          "transcript_support_level": 5,
          "aa_start": 2037,
          "aa_end": null,
          "aa_length": 2342,
          "cds_start": 6109,
          "cds_end": null,
          "cds_length": 7029,
          "cdna_start": 6109,
          "cdna_end": null,
          "cdna_length": 8280,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARID1B",
          "gene_hgnc_id": 18040,
          "hgvs_c": "c.6082C>G",
          "hgvs_p": "p.Arg2028Gly",
          "transcript": "NM_001438486.1",
          "protein_id": "NP_001425415.1",
          "transcript_support_level": null,
          "aa_start": 2028,
          "aa_end": null,
          "aa_length": 2333,
          "cds_start": 6082,
          "cds_end": null,
          "cds_length": 7002,
          "cdna_start": 6385,
          "cdna_end": null,
          "cdna_length": 10193,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARID1B",
          "gene_hgnc_id": 18040,
          "hgvs_c": "c.6079C>G",
          "hgvs_p": "p.Arg2027Gly",
          "transcript": "NM_001371656.1",
          "protein_id": "NP_001358585.1",
          "transcript_support_level": null,
          "aa_start": 2027,
          "aa_end": null,
          "aa_length": 2332,
          "cds_start": 6079,
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          "cdna_start": 6999,
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          "mane_select": null,
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          "feature": null
        },
        {
          "aa_ref": "R",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 20,
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          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARID1B",
          "gene_hgnc_id": 18040,
          "hgvs_c": "c.6079C>G",
          "hgvs_p": "p.Arg2027Gly",
          "transcript": "NM_001374820.1",
          "protein_id": "NP_001361749.1",
          "transcript_support_level": null,
          "aa_start": 2027,
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          "cds_start": 6079,
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          "cdna_start": 6382,
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        },
        {
          "aa_ref": "R",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARID1B",
          "gene_hgnc_id": 18040,
          "hgvs_c": "c.6040C>G",
          "hgvs_p": "p.Arg2014Gly",
          "transcript": "NM_017519.3",
          "protein_id": "NP_059989.3",
          "transcript_support_level": null,
          "aa_start": 2014,
          "aa_end": null,
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          "cds_start": 6040,
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          "cdna_start": 6343,
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          "mane_select": null,
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          "feature": null
        },
        {
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          "strand": true,
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          ],
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          "intron_rank": null,
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          "gene_symbol": "ARID1B",
          "gene_hgnc_id": 18040,
          "hgvs_c": "c.6019C>G",
          "hgvs_p": "p.Arg2007Gly",
          "transcript": "NM_001438487.1",
          "protein_id": "NP_001425416.1",
          "transcript_support_level": null,
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          "cds_start": 6019,
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          "feature": null
        },
        {
          "aa_ref": "R",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARID1B",
          "gene_hgnc_id": 18040,
          "hgvs_c": "c.3700C>G",
          "hgvs_p": "p.Arg1234Gly",
          "transcript": "NM_001363725.2",
          "protein_id": "NP_001350654.1",
          "transcript_support_level": null,
          "aa_start": 1234,
          "aa_end": null,
          "aa_length": 1539,
          "cds_start": 3700,
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          "cdna_start": 4089,
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        },
        {
          "aa_ref": "R",
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          "strand": true,
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          ],
          "exon_rank": 18,
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          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARID1B",
          "gene_hgnc_id": 18040,
          "hgvs_c": "c.3700C>G",
          "hgvs_p": "p.Arg1234Gly",
          "transcript": "ENST00000637904.1",
          "protein_id": "ENSP00000490550.1",
          "transcript_support_level": 5,
          "aa_start": 1234,
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          "aa_length": 1539,
          "cds_start": 3700,
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        {
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          ],
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          "exon_count": 17,
          "intron_rank": null,
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          "gene_symbol": "ARID1B",
          "gene_hgnc_id": 18040,
          "hgvs_c": "c.3541C>G",
          "hgvs_p": "p.Arg1181Gly",
          "transcript": "NM_001438488.1",
          "protein_id": "NP_001425417.1",
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        },
        {
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          "strand": true,
          "consequences": [
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          ],
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          "intron_rank": null,
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          "gene_symbol": "ARID1B",
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          "hgvs_c": "c.3520C>G",
          "hgvs_p": "p.Arg1174Gly",
          "transcript": "ENST00000635849.1",
          "protein_id": "ENSP00000490948.1",
          "transcript_support_level": 5,
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        },
        {
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          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARID1B",
          "gene_hgnc_id": 18040,
          "hgvs_c": "c.3151C>G",
          "hgvs_p": "p.Arg1051Gly",
          "transcript": "ENST00000635957.1",
          "protein_id": "ENSP00000490385.1",
          "transcript_support_level": 5,
          "aa_start": 1051,
          "aa_end": null,
          "aa_length": 1348,
          "cds_start": 3151,
          "cds_end": null,
          "cds_length": 4048,
          "cdna_start": 3151,
          "cdna_end": null,
          "cdna_length": 4048,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
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          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 1,
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      "acmg_classification": "Uncertain_significance",
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      "acmg_by_gene": [
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            "PP3_Moderate"
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          "verdict": "Uncertain_significance",
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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
}