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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: 2-55236741-A-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=55236741&ref=A&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "2",
      "pos": 55236741,
      "ref": "A",
      "alt": "G",
      "effect": "synonymous_variant",
      "transcript": "NM_002453.3",
      "consequences": [
        {
          "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": "MTIF2",
          "gene_hgnc_id": 7441,
          "hgvs_c": "c.2091T>C",
          "hgvs_p": "p.Asp697Asp",
          "transcript": "NM_002453.3",
          "protein_id": "NP_002444.2",
          "transcript_support_level": null,
          "aa_start": 697,
          "aa_end": null,
          "aa_length": 727,
          "cds_start": 2091,
          "cds_end": null,
          "cds_length": 2184,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000263629.9",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_002453.3"
        },
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": true,
          "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": "MTIF2",
          "gene_hgnc_id": 7441,
          "hgvs_c": "c.2091T>C",
          "hgvs_p": "p.Asp697Asp",
          "transcript": "ENST00000263629.9",
          "protein_id": "ENSP00000263629.4",
          "transcript_support_level": 1,
          "aa_start": 697,
          "aa_end": null,
          "aa_length": 727,
          "cds_start": 2091,
          "cds_end": null,
          "cds_length": 2184,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_002453.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000263629.9"
        },
        {
          "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": "MTIF2",
          "gene_hgnc_id": 7441,
          "hgvs_c": "c.2139T>C",
          "hgvs_p": "p.Asp713Asp",
          "transcript": "ENST00000956673.1",
          "protein_id": "ENSP00000626732.1",
          "transcript_support_level": null,
          "aa_start": 713,
          "aa_end": null,
          "aa_length": 743,
          "cds_start": 2139,
          "cds_end": null,
          "cds_length": 2232,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000956673.1"
        },
        {
          "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": "MTIF2",
          "gene_hgnc_id": 7441,
          "hgvs_c": "c.2112T>C",
          "hgvs_p": "p.Asp704Asp",
          "transcript": "ENST00000918027.1",
          "protein_id": "ENSP00000588086.1",
          "transcript_support_level": null,
          "aa_start": 704,
          "aa_end": null,
          "aa_length": 734,
          "cds_start": 2112,
          "cds_end": null,
          "cds_length": 2205,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000918027.1"
        },
        {
          "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": "MTIF2",
          "gene_hgnc_id": 7441,
          "hgvs_c": "c.2112T>C",
          "hgvs_p": "p.Asp704Asp",
          "transcript": "ENST00000956667.1",
          "protein_id": "ENSP00000626726.1",
          "transcript_support_level": null,
          "aa_start": 704,
          "aa_end": null,
          "aa_length": 734,
          "cds_start": 2112,
          "cds_end": null,
          "cds_length": 2205,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000956667.1"
        },
        {
          "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": "MTIF2",
          "gene_hgnc_id": 7441,
          "hgvs_c": "c.2091T>C",
          "hgvs_p": "p.Asp697Asp",
          "transcript": "NM_001005369.1",
          "protein_id": "NP_001005369.1",
          "transcript_support_level": null,
          "aa_start": 697,
          "aa_end": null,
          "aa_length": 727,
          "cds_start": 2091,
          "cds_end": null,
          "cds_length": 2184,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001005369.1"
        },
        {
          "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": "MTIF2",
          "gene_hgnc_id": 7441,
          "hgvs_c": "c.2091T>C",
          "hgvs_p": "p.Asp697Asp",
          "transcript": "NM_001321001.1",
          "protein_id": "NP_001307930.1",
          "transcript_support_level": null,
          "aa_start": 697,
          "aa_end": null,
          "aa_length": 727,
          "cds_start": 2091,
          "cds_end": null,
          "cds_length": 2184,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001321001.1"
        },
        {
          "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": "MTIF2",
          "gene_hgnc_id": 7441,
          "hgvs_c": "c.2091T>C",
          "hgvs_p": "p.Asp697Asp",
          "transcript": "NM_001321002.1",
          "protein_id": "NP_001307931.1",
          "transcript_support_level": null,
          "aa_start": 697,
          "aa_end": null,
          "aa_length": 727,
          "cds_start": 2091,
          "cds_end": null,
          "cds_length": 2184,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001321002.1"
        },
        {
          "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": "MTIF2",
          "gene_hgnc_id": 7441,
          "hgvs_c": "c.2091T>C",
          "hgvs_p": "p.Asp697Asp",
          "transcript": "NM_001321003.1",
          "protein_id": "NP_001307932.1",
          "transcript_support_level": null,
          "aa_start": 697,
          "aa_end": null,
          "aa_length": 727,
          "cds_start": 2091,
          "cds_end": null,
          "cds_length": 2184,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001321003.1"
        },
        {
          "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": "MTIF2",
          "gene_hgnc_id": 7441,
          "hgvs_c": "c.2091T>C",
          "hgvs_p": "p.Asp697Asp",
          "transcript": "NM_001321004.1",
          "protein_id": "NP_001307933.1",
          "transcript_support_level": null,
          "aa_start": 697,
          "aa_end": null,
          "aa_length": 727,
          "cds_start": 2091,
          "cds_end": null,
          "cds_length": 2184,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001321004.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MTIF2",
          "gene_hgnc_id": 7441,
          "hgvs_c": "c.2091T>C",
          "hgvs_p": "p.Asp697Asp",
          "transcript": "ENST00000394600.7",
          "protein_id": "ENSP00000378099.3",
          "transcript_support_level": 2,
          "aa_start": 697,
          "aa_end": null,
          "aa_length": 727,
          "cds_start": 2091,
          "cds_end": null,
          "cds_length": 2184,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000394600.7"
        },
        {
          "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": "MTIF2",
          "gene_hgnc_id": 7441,
          "hgvs_c": "c.2091T>C",
          "hgvs_p": "p.Asp697Asp",
          "transcript": "ENST00000403721.5",
          "protein_id": "ENSP00000384481.1",
          "transcript_support_level": 5,
          "aa_start": 697,
          "aa_end": null,
          "aa_length": 727,
          "cds_start": 2091,
          "cds_end": null,
          "cds_length": 2184,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000403721.5"
        },
        {
          "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": "MTIF2",
          "gene_hgnc_id": 7441,
          "hgvs_c": "c.2091T>C",
          "hgvs_p": "p.Asp697Asp",
          "transcript": "ENST00000853164.1",
          "protein_id": "ENSP00000523223.1",
          "transcript_support_level": null,
          "aa_start": 697,
          "aa_end": null,
          "aa_length": 727,
          "cds_start": 2091,
          "cds_end": null,
          "cds_length": 2184,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000853164.1"
        },
        {
          "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": "MTIF2",
          "gene_hgnc_id": 7441,
          "hgvs_c": "c.2091T>C",
          "hgvs_p": "p.Asp697Asp",
          "transcript": "ENST00000853170.1",
          "protein_id": "ENSP00000523229.1",
          "transcript_support_level": null,
          "aa_start": 697,
          "aa_end": null,
          "aa_length": 727,
          "cds_start": 2091,
          "cds_end": null,
          "cds_length": 2184,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000853170.1"
        },
        {
          "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": "MTIF2",
          "gene_hgnc_id": 7441,
          "hgvs_c": "c.2091T>C",
          "hgvs_p": "p.Asp697Asp",
          "transcript": "ENST00000853173.1",
          "protein_id": "ENSP00000523232.1",
          "transcript_support_level": null,
          "aa_start": 697,
          "aa_end": null,
          "aa_length": 727,
          "cds_start": 2091,
          "cds_end": null,
          "cds_length": 2184,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000853173.1"
        },
        {
          "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": "MTIF2",
          "gene_hgnc_id": 7441,
          "hgvs_c": "c.2091T>C",
          "hgvs_p": "p.Asp697Asp",
          "transcript": "ENST00000853177.1",
          "protein_id": "ENSP00000523236.1",
          "transcript_support_level": null,
          "aa_start": 697,
          "aa_end": null,
          "aa_length": 727,
          "cds_start": 2091,
          "cds_end": null,
          "cds_length": 2184,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000853177.1"
        },
        {
          "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": "MTIF2",
          "gene_hgnc_id": 7441,
          "hgvs_c": "c.2091T>C",
          "hgvs_p": "p.Asp697Asp",
          "transcript": "ENST00000853178.1",
          "protein_id": "ENSP00000523237.1",
          "transcript_support_level": null,
          "aa_start": 697,
          "aa_end": null,
          "aa_length": 727,
          "cds_start": 2091,
          "cds_end": null,
          "cds_length": 2184,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000853178.1"
        },
        {
          "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": "MTIF2",
          "gene_hgnc_id": 7441,
          "hgvs_c": "c.2091T>C",
          "hgvs_p": "p.Asp697Asp",
          "transcript": "ENST00000918019.1",
          "protein_id": "ENSP00000588078.1",
          "transcript_support_level": null,
          "aa_start": 697,
          "aa_end": null,
          "aa_length": 727,
          "cds_start": 2091,
          "cds_end": null,
          "cds_length": 2184,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000918019.1"
        },
        {
          "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": "MTIF2",
          "gene_hgnc_id": 7441,
          "hgvs_c": "c.2091T>C",
          "hgvs_p": "p.Asp697Asp",
          "transcript": "ENST00000918023.1",
          "protein_id": "ENSP00000588082.1",
          "transcript_support_level": null,
          "aa_start": 697,
          "aa_end": null,
          "aa_length": 727,
          "cds_start": 2091,
          "cds_end": null,
          "cds_length": 2184,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000918023.1"
        },
        {
          "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": "MTIF2",
          "gene_hgnc_id": 7441,
          "hgvs_c": "c.2091T>C",
          "hgvs_p": "p.Asp697Asp",
          "transcript": "ENST00000918024.1",
          "protein_id": "ENSP00000588083.1",
          "transcript_support_level": null,
          "aa_start": 697,
          "aa_end": null,
          "aa_length": 727,
          "cds_start": 2091,
          "cds_end": null,
          "cds_length": 2184,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
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        {
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          "transcript": "XM_047444432.1",
          "protein_id": "XP_047300388.1",
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        {
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          "gene_symbol": "MTIF2",
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          "hgvs_c": "c.1803T>C",
          "hgvs_p": "p.Asp601Asp",
          "transcript": "XM_047444433.1",
          "protein_id": "XP_047300389.1",
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          "biotype": "protein_coding",
          "feature": "XM_047444433.1"
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      ],
      "gene_symbol": "MTIF2",
      "gene_hgnc_id": 7441,
      "dbsnp": "rs1675843951",
      "frequency_reference_population": 0.000001370184,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 2,
      "gnomad_exomes_af": 0.00000137018,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": 2,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.5199999809265137,
      "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": -0.52,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 1.171,
      "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": -3,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "PM2,BP4_Strong,BP7",
      "acmg_by_gene": [
        {
          "score": -3,
          "benign_score": 5,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Strong",
            "BP7"
          ],
          "verdict": "Likely_benign",
          "transcript": "NM_002453.3",
          "gene_symbol": "MTIF2",
          "hgnc_id": 7441,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.2091T>C",
          "hgvs_p": "p.Asp697Asp"
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}