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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: 7-74060425-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=74060425&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "7",
      "pos": 74060425,
      "ref": "C",
      "alt": "T",
      "effect": "synonymous_variant",
      "transcript": "NM_001278939.2",
      "consequences": [
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ELN",
          "gene_hgnc_id": 3327,
          "hgvs_c": "c.1671C>T",
          "hgvs_p": "p.Val557Val",
          "transcript": "NM_000501.4",
          "protein_id": "NP_000492.2",
          "transcript_support_level": null,
          "aa_start": 557,
          "aa_end": null,
          "aa_length": 724,
          "cds_start": 1671,
          "cds_end": null,
          "cds_length": 2175,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000252034.12",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_000501.4"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ELN",
          "gene_hgnc_id": 3327,
          "hgvs_c": "c.1671C>T",
          "hgvs_p": "p.Val557Val",
          "transcript": "ENST00000252034.12",
          "protein_id": "ENSP00000252034.7",
          "transcript_support_level": 1,
          "aa_start": 557,
          "aa_end": null,
          "aa_length": 724,
          "cds_start": 1671,
          "cds_end": null,
          "cds_length": 2175,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_000501.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000252034.12"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ELN",
          "gene_hgnc_id": 3327,
          "hgvs_c": "c.1689C>T",
          "hgvs_p": "p.Val563Val",
          "transcript": "ENST00000380562.8",
          "protein_id": "ENSP00000369936.4",
          "transcript_support_level": 1,
          "aa_start": 563,
          "aa_end": null,
          "aa_length": 730,
          "cds_start": 1689,
          "cds_end": null,
          "cds_length": 2193,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000380562.8"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 24,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ELN",
          "gene_hgnc_id": 3327,
          "hgvs_c": "c.1641C>T",
          "hgvs_p": "p.Val547Val",
          "transcript": "ENST00000458204.5",
          "protein_id": "ENSP00000403162.1",
          "transcript_support_level": 1,
          "aa_start": 547,
          "aa_end": null,
          "aa_length": 714,
          "cds_start": 1641,
          "cds_end": null,
          "cds_length": 2145,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000458204.5"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ELN",
          "gene_hgnc_id": 3327,
          "hgvs_c": "c.1686C>T",
          "hgvs_p": "p.Val562Val",
          "transcript": "ENST00000357036.9",
          "protein_id": "ENSP00000349540.5",
          "transcript_support_level": 1,
          "aa_start": 562,
          "aa_end": null,
          "aa_length": 711,
          "cds_start": 1686,
          "cds_end": null,
          "cds_length": 2136,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000357036.9"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 24,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ELN",
          "gene_hgnc_id": 3327,
          "hgvs_c": "c.1614C>T",
          "hgvs_p": "p.Val538Val",
          "transcript": "ENST00000380576.9",
          "protein_id": "ENSP00000369950.5",
          "transcript_support_level": 1,
          "aa_start": 538,
          "aa_end": null,
          "aa_length": 705,
          "cds_start": 1614,
          "cds_end": null,
          "cds_length": 2118,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000380576.9"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ELN",
          "gene_hgnc_id": 3327,
          "hgvs_c": "c.1584C>T",
          "hgvs_p": "p.Val528Val",
          "transcript": "ENST00000380575.8",
          "protein_id": "ENSP00000369949.4",
          "transcript_support_level": 1,
          "aa_start": 528,
          "aa_end": null,
          "aa_length": 677,
          "cds_start": 1584,
          "cds_end": null,
          "cds_length": 2034,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000380575.8"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ELN",
          "gene_hgnc_id": 3327,
          "hgvs_c": "c.1527C>T",
          "hgvs_p": "p.Val509Val",
          "transcript": "ENST00000380584.8",
          "protein_id": "ENSP00000369958.4",
          "transcript_support_level": 1,
          "aa_start": 509,
          "aa_end": null,
          "aa_length": 658,
          "cds_start": 1527,
          "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": "ENST00000380584.8"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 34,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ELN",
          "gene_hgnc_id": 3327,
          "hgvs_c": "c.1758C>T",
          "hgvs_p": "p.Val586Val",
          "transcript": "NM_001278939.2",
          "protein_id": "NP_001265868.1",
          "transcript_support_level": null,
          "aa_start": 586,
          "aa_end": null,
          "aa_length": 786,
          "cds_start": 1758,
          "cds_end": null,
          "cds_length": 2361,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001278939.2"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 34,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ELN",
          "gene_hgnc_id": 3327,
          "hgvs_c": "c.1758C>T",
          "hgvs_p": "p.Val586Val",
          "transcript": "ENST00000692049.1",
          "protein_id": "ENSP00000510104.1",
          "transcript_support_level": null,
          "aa_start": 586,
          "aa_end": null,
          "aa_length": 786,
          "cds_start": 1758,
          "cds_end": null,
          "cds_length": 2361,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000692049.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ELN",
          "gene_hgnc_id": 3327,
          "hgvs_c": "c.1671C>T",
          "hgvs_p": "p.Val557Val",
          "transcript": "ENST00000320399.10",
          "protein_id": "ENSP00000313565.6",
          "transcript_support_level": 5,
          "aa_start": 557,
          "aa_end": null,
          "aa_length": 757,
          "cds_start": 1671,
          "cds_end": null,
          "cds_length": 2274,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000320399.10"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 34,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ELN",
          "gene_hgnc_id": 3327,
          "hgvs_c": "c.1749C>T",
          "hgvs_p": "p.Val583Val",
          "transcript": "ENST00000953888.1",
          "protein_id": "ENSP00000623947.1",
          "transcript_support_level": null,
          "aa_start": 583,
          "aa_end": null,
          "aa_length": 750,
          "cds_start": 1749,
          "cds_end": null,
          "cds_length": 2253,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000953888.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ELN",
          "gene_hgnc_id": 3327,
          "hgvs_c": "c.1689C>T",
          "hgvs_p": "p.Val563Val",
          "transcript": "NM_001278915.2",
          "protein_id": "NP_001265844.1",
          "transcript_support_level": null,
          "aa_start": 563,
          "aa_end": null,
          "aa_length": 730,
          "cds_start": 1689,
          "cds_end": null,
          "cds_length": 2193,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001278915.2"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ELN",
          "gene_hgnc_id": 3327,
          "hgvs_c": "c.1686C>T",
          "hgvs_p": "p.Val562Val",
          "transcript": "ENST00000869821.1",
          "protein_id": "ENSP00000539880.1",
          "transcript_support_level": null,
          "aa_start": 562,
          "aa_end": null,
          "aa_length": 729,
          "cds_start": 1686,
          "cds_end": null,
          "cds_length": 2190,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000869821.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 24,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ELN",
          "gene_hgnc_id": 3327,
          "hgvs_c": "c.1629C>T",
          "hgvs_p": "p.Val543Val",
          "transcript": "ENST00000953850.1",
          "protein_id": "ENSP00000623909.1",
          "transcript_support_level": null,
          "aa_start": 543,
          "aa_end": null,
          "aa_length": 725,
          "cds_start": 1629,
          "cds_end": null,
          "cds_length": 2178,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000953850.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ELN",
          "gene_hgnc_id": 3327,
          "hgvs_c": "c.1725C>T",
          "hgvs_p": "p.Val575Val",
          "transcript": "ENST00000869853.1",
          "protein_id": "ENSP00000539912.1",
          "transcript_support_level": null,
          "aa_start": 575,
          "aa_end": null,
          "aa_length": 724,
          "cds_start": 1725,
          "cds_end": null,
          "cds_length": 2175,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000869853.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ELN",
          "gene_hgnc_id": 3327,
          "hgvs_c": "c.1668C>T",
          "hgvs_p": "p.Val556Val",
          "transcript": "ENST00000869840.1",
          "protein_id": "ENSP00000539899.1",
          "transcript_support_level": null,
          "aa_start": 556,
          "aa_end": null,
          "aa_length": 723,
          "cds_start": 1668,
          "cds_end": null,
          "cds_length": 2172,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000869840.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ELN",
          "gene_hgnc_id": 3327,
          "hgvs_c": "c.1671C>T",
          "hgvs_p": "p.Val557Val",
          "transcript": "ENST00000869804.1",
          "protein_id": "ENSP00000539863.1",
          "transcript_support_level": null,
          "aa_start": 557,
          "aa_end": null,
          "aa_length": 722,
          "cds_start": 1671,
          "cds_end": null,
          "cds_length": 2169,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000869804.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ELN",
          "gene_hgnc_id": 3327,
          "hgvs_c": "c.1665C>T",
          "hgvs_p": "p.Val555Val",
          "transcript": "ENST00000953875.1",
          "protein_id": "ENSP00000623934.1",
          "transcript_support_level": null,
          "aa_start": 555,
          "aa_end": null,
          "aa_length": 722,
          "cds_start": 1665,
          "cds_end": null,
          "cds_length": 2169,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000953875.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ELN",
          "gene_hgnc_id": 3327,
          "hgvs_c": "c.1671C>T",
          "hgvs_p": "p.Val557Val",
          "transcript": "ENST00000953869.1",
          "protein_id": "ENSP00000623928.1",
          "transcript_support_level": null,
          "aa_start": 557,
          "aa_end": null,
          "aa_length": 720,
          "cds_start": 1671,
          "cds_end": null,
          "cds_length": 2163,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
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      "dbsnp": "rs563533415",
      "frequency_reference_population": 0.000034697267,
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      "allele_count_reference_population": 56,
      "gnomad_exomes_af": 0.0000342037,
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      "gnomad_exomes_ac": 50,
      "gnomad_genomes_ac": 6,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.5799999833106995,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.58,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -4.305,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
      "dbscsnv_ada_score": null,
      "dbscsnv_ada_prediction": null,
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": -21,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
      "acmg_by_gene": [
        {
          "score": -21,
          "benign_score": 21,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BP6_Very_Strong",
            "BP7",
            "BS1",
            "BS2"
          ],
          "verdict": "Benign",
          "transcript": "NM_001278939.2",
          "gene_symbol": "ELN",
          "hgnc_id": 3327,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.1758C>T",
          "hgvs_p": "p.Val586Val"
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        {
          "score": -12,
          "benign_score": 12,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BP6_Very_Strong"
          ],
          "verdict": "Benign",
          "transcript": "ENST00000435932.3",
          "gene_symbol": "ELN-AS1",
          "hgnc_id": 40212,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.100-393G>A",
          "hgvs_p": null
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      ],
      "clinvar_disease": "Supravalvar aortic stenosis,not provided,not specified",
      "clinvar_classification": "Likely benign",
      "clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
      "clinvar_submissions_summary": "LB:3",
      "phenotype_combined": "not specified|Supravalvar aortic stenosis|not provided",
      "pathogenicity_classification_combined": "Likely benign",
      "custom_annotations": null
    }
  ],
  "message": null
}