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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: 19-1611716-C-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=1611716&ref=C&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "19",
      "pos": 1611716,
      "ref": "C",
      "alt": "A",
      "effect": "synonymous_variant",
      "transcript": "NM_003200.5",
      "consequences": [
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCF3",
          "gene_hgnc_id": 11633,
          "hgvs_c": "c.1956G>T",
          "hgvs_p": "p.Gly652Gly",
          "transcript": "NM_003200.5",
          "protein_id": "NP_003191.1",
          "transcript_support_level": null,
          "aa_start": 652,
          "aa_end": null,
          "aa_length": 654,
          "cds_start": 1956,
          "cds_end": null,
          "cds_length": 1965,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000262965.12",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_003200.5"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCF3",
          "gene_hgnc_id": 11633,
          "hgvs_c": "c.1956G>T",
          "hgvs_p": "p.Gly652Gly",
          "transcript": "ENST00000262965.12",
          "protein_id": "ENSP00000262965.5",
          "transcript_support_level": 1,
          "aa_start": 652,
          "aa_end": null,
          "aa_length": 654,
          "cds_start": 1956,
          "cds_end": null,
          "cds_length": 1965,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_003200.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000262965.12"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCF3",
          "gene_hgnc_id": 11633,
          "hgvs_c": "c.1947G>T",
          "hgvs_p": "p.Gly649Gly",
          "transcript": "NM_001136139.4",
          "protein_id": "NP_001129611.1",
          "transcript_support_level": null,
          "aa_start": 649,
          "aa_end": null,
          "aa_length": 651,
          "cds_start": 1947,
          "cds_end": null,
          "cds_length": 1956,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": "ENST00000588136.7",
          "biotype": "protein_coding",
          "feature": "NM_001136139.4"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCF3",
          "gene_hgnc_id": 11633,
          "hgvs_c": "c.1947G>T",
          "hgvs_p": "p.Gly649Gly",
          "transcript": "ENST00000588136.7",
          "protein_id": "ENSP00000468487.1",
          "transcript_support_level": 2,
          "aa_start": 649,
          "aa_end": null,
          "aa_length": 651,
          "cds_start": 1947,
          "cds_end": null,
          "cds_length": 1956,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": "NM_001136139.4",
          "biotype": "protein_coding",
          "feature": "ENST00000588136.7"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCF3",
          "gene_hgnc_id": 11633,
          "hgvs_c": "n.1314G>T",
          "hgvs_p": null,
          "transcript": "ENST00000610756.4",
          "protein_id": null,
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "retained_intron",
          "feature": "ENST00000610756.4"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "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": "TCF3",
          "gene_hgnc_id": 11633,
          "hgvs_c": "c.2124G>T",
          "hgvs_p": "p.Gly708Gly",
          "transcript": "ENST00000931972.1",
          "protein_id": "ENSP00000602031.1",
          "transcript_support_level": null,
          "aa_start": 708,
          "aa_end": null,
          "aa_length": 710,
          "cds_start": 2124,
          "cds_end": null,
          "cds_length": 2133,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000931972.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "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": "TCF3",
          "gene_hgnc_id": 11633,
          "hgvs_c": "c.2115G>T",
          "hgvs_p": "p.Gly705Gly",
          "transcript": "ENST00000948466.1",
          "protein_id": "ENSP00000618525.1",
          "transcript_support_level": null,
          "aa_start": 705,
          "aa_end": null,
          "aa_length": 707,
          "cds_start": 2115,
          "cds_end": null,
          "cds_length": 2124,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000948466.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCF3",
          "gene_hgnc_id": 11633,
          "hgvs_c": "c.2043G>T",
          "hgvs_p": "p.Gly681Gly",
          "transcript": "ENST00000931963.1",
          "protein_id": "ENSP00000602022.1",
          "transcript_support_level": null,
          "aa_start": 681,
          "aa_end": null,
          "aa_length": 683,
          "cds_start": 2043,
          "cds_end": null,
          "cds_length": 2052,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000931963.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCF3",
          "gene_hgnc_id": 11633,
          "hgvs_c": "c.2043G>T",
          "hgvs_p": "p.Gly681Gly",
          "transcript": "ENST00000931968.1",
          "protein_id": "ENSP00000602027.1",
          "transcript_support_level": null,
          "aa_start": 681,
          "aa_end": null,
          "aa_length": 683,
          "cds_start": 2043,
          "cds_end": null,
          "cds_length": 2052,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000931968.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCF3",
          "gene_hgnc_id": 11633,
          "hgvs_c": "c.2043G>T",
          "hgvs_p": "p.Gly681Gly",
          "transcript": "ENST00000931970.1",
          "protein_id": "ENSP00000602029.1",
          "transcript_support_level": null,
          "aa_start": 681,
          "aa_end": null,
          "aa_length": 683,
          "cds_start": 2043,
          "cds_end": null,
          "cds_length": 2052,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000931970.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCF3",
          "gene_hgnc_id": 11633,
          "hgvs_c": "c.2040G>T",
          "hgvs_p": "p.Gly680Gly",
          "transcript": "ENST00000931967.1",
          "protein_id": "ENSP00000602026.1",
          "transcript_support_level": null,
          "aa_start": 680,
          "aa_end": null,
          "aa_length": 682,
          "cds_start": 2040,
          "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": "ENST00000931967.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCF3",
          "gene_hgnc_id": 11633,
          "hgvs_c": "c.2040G>T",
          "hgvs_p": "p.Gly680Gly",
          "transcript": "ENST00000931971.1",
          "protein_id": "ENSP00000602030.1",
          "transcript_support_level": null,
          "aa_start": 680,
          "aa_end": null,
          "aa_length": 682,
          "cds_start": 2040,
          "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": "ENST00000931971.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCF3",
          "gene_hgnc_id": 11633,
          "hgvs_c": "c.2031G>T",
          "hgvs_p": "p.Gly677Gly",
          "transcript": "ENST00000453954.6",
          "protein_id": "ENSP00000396363.3",
          "transcript_support_level": 5,
          "aa_start": 677,
          "aa_end": null,
          "aa_length": 679,
          "cds_start": 2031,
          "cds_end": null,
          "cds_length": 2040,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000453954.6"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "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": "TCF3",
          "gene_hgnc_id": 11633,
          "hgvs_c": "c.1968G>T",
          "hgvs_p": "p.Gly656Gly",
          "transcript": "ENST00000395423.7",
          "protein_id": "ENSP00000378813.3",
          "transcript_support_level": 5,
          "aa_start": 656,
          "aa_end": null,
          "aa_length": 658,
          "cds_start": 1968,
          "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": "ENST00000395423.7"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCF3",
          "gene_hgnc_id": 11633,
          "hgvs_c": "c.1956G>T",
          "hgvs_p": "p.Gly652Gly",
          "transcript": "ENST00000863491.1",
          "protein_id": "ENSP00000533550.1",
          "transcript_support_level": null,
          "aa_start": 652,
          "aa_end": null,
          "aa_length": 654,
          "cds_start": 1956,
          "cds_end": null,
          "cds_length": 1965,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000863491.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCF3",
          "gene_hgnc_id": 11633,
          "hgvs_c": "c.1956G>T",
          "hgvs_p": "p.Gly652Gly",
          "transcript": "ENST00000931966.1",
          "protein_id": "ENSP00000602025.1",
          "transcript_support_level": null,
          "aa_start": 652,
          "aa_end": null,
          "aa_length": 654,
          "cds_start": 1956,
          "cds_end": null,
          "cds_length": 1965,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000931966.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCF3",
          "gene_hgnc_id": 11633,
          "hgvs_c": "c.1956G>T",
          "hgvs_p": "p.Gly652Gly",
          "transcript": "ENST00000931973.1",
          "protein_id": "ENSP00000602032.1",
          "transcript_support_level": null,
          "aa_start": 652,
          "aa_end": null,
          "aa_length": 654,
          "cds_start": 1956,
          "cds_end": null,
          "cds_length": 1965,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000931973.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCF3",
          "gene_hgnc_id": 11633,
          "hgvs_c": "c.1956G>T",
          "hgvs_p": "p.Gly652Gly",
          "transcript": "ENST00000931974.1",
          "protein_id": "ENSP00000602033.1",
          "transcript_support_level": null,
          "aa_start": 652,
          "aa_end": null,
          "aa_length": 654,
          "cds_start": 1956,
          "cds_end": null,
          "cds_length": 1965,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000931974.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCF3",
          "gene_hgnc_id": 11633,
          "hgvs_c": "c.1953G>T",
          "hgvs_p": "p.Gly651Gly",
          "transcript": "NM_001351778.2",
          "protein_id": "NP_001338707.1",
          "transcript_support_level": null,
          "aa_start": 651,
          "aa_end": null,
          "aa_length": 653,
          "cds_start": 1953,
          "cds_end": null,
          "cds_length": 1962,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001351778.2"
        },
        {
          "aa_ref": "G",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCF3",
          "gene_hgnc_id": 11633,
          "hgvs_c": "c.1953G>T",
          "hgvs_p": "p.Gly651Gly",
          "transcript": "ENST00000863492.1",
          "protein_id": "ENSP00000533551.1",
          "transcript_support_level": null,
          "aa_start": 651,
          "aa_end": null,
          "aa_length": 653,
          "cds_start": 1953,
          "cds_end": null,
          "cds_length": 1962,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
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        {
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        {
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          "hgvs_c": "n.*292G>T",
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          "transcript": "ENST00000586164.1",
          "protein_id": "ENSP00000467972.1",
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          "biotype": "nonsense_mediated_decay",
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      ],
      "gene_symbol": "TCF3",
      "gene_hgnc_id": 11633,
      "dbsnp": "rs752215115",
      "frequency_reference_population": 6.845386e-7,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 1,
      "gnomad_exomes_af": 6.84539e-7,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": 1,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.4099999964237213,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0.019999999552965164,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.41,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 0.788,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0.02,
      "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": -1,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "PM2,BP4_Moderate,BP7",
      "acmg_by_gene": [
        {
          "score": -1,
          "benign_score": 3,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Moderate",
            "BP7"
          ],
          "verdict": "Likely_benign",
          "transcript": "NM_003200.5",
          "gene_symbol": "TCF3",
          "hgnc_id": 11633,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "AR,AD,SD",
          "hgvs_c": "c.1956G>T",
          "hgvs_p": "p.Gly652Gly"
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}