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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: 6-111559489-G-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=111559489&ref=G&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "6",
      "pos": 111559489,
      "ref": "G",
      "alt": "T",
      "effect": "missense_variant",
      "transcript": "NM_147200.3",
      "consequences": [
        {
          "aa_ref": "N",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRAF3IP2",
          "gene_hgnc_id": 1343,
          "hgvs_c": "c.1614C>A",
          "hgvs_p": "p.Asn538Lys",
          "transcript": "NM_147686.4",
          "protein_id": "NP_679211.2",
          "transcript_support_level": null,
          "aa_start": 538,
          "aa_end": null,
          "aa_length": 565,
          "cds_start": 1614,
          "cds_end": null,
          "cds_length": 1698,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000368761.11",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_147686.4"
        },
        {
          "aa_ref": "N",
          "aa_alt": "K",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRAF3IP2",
          "gene_hgnc_id": 1343,
          "hgvs_c": "c.1614C>A",
          "hgvs_p": "p.Asn538Lys",
          "transcript": "ENST00000368761.11",
          "protein_id": "ENSP00000357750.5",
          "transcript_support_level": 1,
          "aa_start": 538,
          "aa_end": null,
          "aa_length": 565,
          "cds_start": 1614,
          "cds_end": null,
          "cds_length": 1698,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_147686.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000368761.11"
        },
        {
          "aa_ref": "N",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRAF3IP2",
          "gene_hgnc_id": 1343,
          "hgvs_c": "c.1641C>A",
          "hgvs_p": "p.Asn547Lys",
          "transcript": "ENST00000340026.10",
          "protein_id": "ENSP00000345984.6",
          "transcript_support_level": 1,
          "aa_start": 547,
          "aa_end": null,
          "aa_length": 574,
          "cds_start": 1641,
          "cds_end": null,
          "cds_length": 1725,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000340026.10"
        },
        {
          "aa_ref": "N",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRAF3IP2",
          "gene_hgnc_id": 1343,
          "hgvs_c": "c.1641C>A",
          "hgvs_p": "p.Asn547Lys",
          "transcript": "NM_147200.3",
          "protein_id": "NP_671733.2",
          "transcript_support_level": null,
          "aa_start": 547,
          "aa_end": null,
          "aa_length": 574,
          "cds_start": 1641,
          "cds_end": null,
          "cds_length": 1725,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_147200.3"
        },
        {
          "aa_ref": "N",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRAF3IP2",
          "gene_hgnc_id": 1343,
          "hgvs_c": "c.1614C>A",
          "hgvs_p": "p.Asn538Lys",
          "transcript": "ENST00000651547.2",
          "protein_id": "ENSP00000514681.1",
          "transcript_support_level": null,
          "aa_start": 538,
          "aa_end": null,
          "aa_length": 565,
          "cds_start": 1614,
          "cds_end": null,
          "cds_length": 1698,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000651547.2"
        },
        {
          "aa_ref": "N",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRAF3IP2",
          "gene_hgnc_id": 1343,
          "hgvs_c": "c.1614C>A",
          "hgvs_p": "p.Asn538Lys",
          "transcript": "ENST00000907309.1",
          "protein_id": "ENSP00000577368.1",
          "transcript_support_level": null,
          "aa_start": 538,
          "aa_end": null,
          "aa_length": 565,
          "cds_start": 1614,
          "cds_end": null,
          "cds_length": 1698,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000907309.1"
        },
        {
          "aa_ref": "N",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRAF3IP2",
          "gene_hgnc_id": 1343,
          "hgvs_c": "c.1614C>A",
          "hgvs_p": "p.Asn538Lys",
          "transcript": "ENST00000907310.1",
          "protein_id": "ENSP00000577369.1",
          "transcript_support_level": null,
          "aa_start": 538,
          "aa_end": null,
          "aa_length": 565,
          "cds_start": 1614,
          "cds_end": null,
          "cds_length": 1698,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000907310.1"
        },
        {
          "aa_ref": "N",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRAF3IP2",
          "gene_hgnc_id": 1343,
          "hgvs_c": "c.1614C>A",
          "hgvs_p": "p.Asn538Lys",
          "transcript": "ENST00000912363.1",
          "protein_id": "ENSP00000582422.1",
          "transcript_support_level": null,
          "aa_start": 538,
          "aa_end": null,
          "aa_length": 565,
          "cds_start": 1614,
          "cds_end": null,
          "cds_length": 1698,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000912363.1"
        },
        {
          "aa_ref": "N",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRAF3IP2",
          "gene_hgnc_id": 1343,
          "hgvs_c": "c.1614C>A",
          "hgvs_p": "p.Asn538Lys",
          "transcript": "ENST00000945262.1",
          "protein_id": "ENSP00000615321.1",
          "transcript_support_level": null,
          "aa_start": 538,
          "aa_end": null,
          "aa_length": 565,
          "cds_start": 1614,
          "cds_end": null,
          "cds_length": 1698,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000945262.1"
        },
        {
          "aa_ref": "N",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRAF3IP2",
          "gene_hgnc_id": 1343,
          "hgvs_c": "c.1614C>A",
          "hgvs_p": "p.Asn538Lys",
          "transcript": "ENST00000945263.1",
          "protein_id": "ENSP00000615322.1",
          "transcript_support_level": null,
          "aa_start": 538,
          "aa_end": null,
          "aa_length": 565,
          "cds_start": 1614,
          "cds_end": null,
          "cds_length": 1698,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000945263.1"
        },
        {
          "aa_ref": "N",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRAF3IP2",
          "gene_hgnc_id": 1343,
          "hgvs_c": "c.1611C>A",
          "hgvs_p": "p.Asn537Lys",
          "transcript": "NM_001164281.3",
          "protein_id": "NP_001157753.1",
          "transcript_support_level": null,
          "aa_start": 537,
          "aa_end": null,
          "aa_length": 564,
          "cds_start": 1611,
          "cds_end": null,
          "cds_length": 1695,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001164281.3"
        },
        {
          "aa_ref": "N",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRAF3IP2",
          "gene_hgnc_id": 1343,
          "hgvs_c": "c.1611C>A",
          "hgvs_p": "p.Asn537Lys",
          "transcript": "ENST00000359831.8",
          "protein_id": "ENSP00000352889.4",
          "transcript_support_level": 2,
          "aa_start": 537,
          "aa_end": null,
          "aa_length": 564,
          "cds_start": 1611,
          "cds_end": null,
          "cds_length": 1695,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000359831.8"
        },
        {
          "aa_ref": "N",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRAF3IP2",
          "gene_hgnc_id": 1343,
          "hgvs_c": "c.246C>A",
          "hgvs_p": "p.Asn82Lys",
          "transcript": "NM_001164283.3",
          "protein_id": "NP_001157755.1",
          "transcript_support_level": null,
          "aa_start": 82,
          "aa_end": null,
          "aa_length": 109,
          "cds_start": 246,
          "cds_end": null,
          "cds_length": 330,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001164283.3"
        },
        {
          "aa_ref": "N",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRAF3IP2",
          "gene_hgnc_id": 1343,
          "hgvs_c": "c.246C>A",
          "hgvs_p": "p.Asn82Lys",
          "transcript": "ENST00000368730.5",
          "protein_id": "ENSP00000498323.1",
          "transcript_support_level": 3,
          "aa_start": 82,
          "aa_end": null,
          "aa_length": 109,
          "cds_start": 246,
          "cds_end": null,
          "cds_length": 330,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000368730.5"
        },
        {
          "aa_ref": "N",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRAF3IP2",
          "gene_hgnc_id": 1343,
          "hgvs_c": "c.246C>A",
          "hgvs_p": "p.Asn82Lys",
          "transcript": "ENST00000368734.5",
          "protein_id": "ENSP00000498345.1",
          "transcript_support_level": 3,
          "aa_start": 82,
          "aa_end": null,
          "aa_length": 109,
          "cds_start": 246,
          "cds_end": null,
          "cds_length": 330,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000368734.5"
        },
        {
          "aa_ref": "N",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRAF3IP2",
          "gene_hgnc_id": 1343,
          "hgvs_c": "c.246C>A",
          "hgvs_p": "p.Asn82Lys",
          "transcript": "ENST00000368735.1",
          "protein_id": "ENSP00000357724.1",
          "transcript_support_level": 2,
          "aa_start": 82,
          "aa_end": null,
          "aa_length": 109,
          "cds_start": 246,
          "cds_end": null,
          "cds_length": 330,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000368735.1"
        },
        {
          "aa_ref": "N",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRAF3IP2",
          "gene_hgnc_id": 1343,
          "hgvs_c": "c.120C>A",
          "hgvs_p": "p.Asn40Lys",
          "transcript": "ENST00000492671.1",
          "protein_id": "ENSP00000498694.1",
          "transcript_support_level": 3,
          "aa_start": 40,
          "aa_end": null,
          "aa_length": 67,
          "cds_start": 120,
          "cds_end": null,
          "cds_length": 204,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000492671.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRAF3IP2",
          "gene_hgnc_id": 1343,
          "hgvs_c": "n.879C>A",
          "hgvs_p": null,
          "transcript": "ENST00000368731.6",
          "protein_id": null,
          "transcript_support_level": 3,
          "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": "pseudogene",
          "feature": "ENST00000368731.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRAF3IP2",
          "gene_hgnc_id": 1343,
          "hgvs_c": "n.848C>A",
          "hgvs_p": null,
          "transcript": "ENST00000699907.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": "ENST00000699907.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRAF3IP2",
          "gene_hgnc_id": 1343,
          "hgvs_c": "n.507C>A",
          "hgvs_p": null,
          "transcript": "ENST00000699908.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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,
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          "hgnc_id": 40005,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.251-15132G>T",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}
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