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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: 7-87192664-A-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=87192664&ref=A&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "7",
      "pos": 87192664,
      "ref": "A",
      "alt": "G",
      "effect": "intron_variant",
      "transcript": "NM_021145.4",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": 14,
          "intron_rank_end": null,
          "gene_symbol": "DMTF1",
          "gene_hgnc_id": 14603,
          "hgvs_c": "c.1495-534A>G",
          "hgvs_p": null,
          "transcript": "NM_001142327.2",
          "protein_id": "NP_001135799.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 760,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2283,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000331242.12",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001142327.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": 14,
          "intron_rank_end": null,
          "gene_symbol": "DMTF1",
          "gene_hgnc_id": 14603,
          "hgvs_c": "c.1495-534A>G",
          "hgvs_p": null,
          "transcript": "ENST00000331242.12",
          "protein_id": "ENSP00000332171.7",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 760,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2283,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001142327.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000331242.12"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": 16,
          "intron_rank_end": null,
          "gene_symbol": "DMTF1",
          "gene_hgnc_id": 14603,
          "hgvs_c": "c.1495-534A>G",
          "hgvs_p": null,
          "transcript": "ENST00000394703.9",
          "protein_id": "ENSP00000378193.5",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 760,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2283,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000394703.9"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DMTF1",
          "gene_hgnc_id": 14603,
          "hgvs_c": "n.188A>G",
          "hgvs_p": null,
          "transcript": "ENST00000488352.2",
          "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": "ENST00000488352.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": 14,
          "intron_rank_end": null,
          "gene_symbol": "DMTF1",
          "gene_hgnc_id": 14603,
          "hgvs_c": "n.*848-534A>G",
          "hgvs_p": null,
          "transcript": "ENST00000447863.5",
          "protein_id": "ENSP00000389774.1",
          "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": "nonsense_mediated_decay",
          "feature": "ENST00000447863.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": 14,
          "intron_rank_end": null,
          "gene_symbol": "DMTF1",
          "gene_hgnc_id": 14603,
          "hgvs_c": "n.*848-534A>G",
          "hgvs_p": null,
          "transcript": "ENST00000579677.5",
          "protein_id": "ENSP00000464596.1",
          "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": "nonsense_mediated_decay",
          "feature": "ENST00000579677.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": 14,
          "intron_rank_end": null,
          "gene_symbol": "DMTF1",
          "gene_hgnc_id": 14603,
          "hgvs_c": "c.1516-534A>G",
          "hgvs_p": null,
          "transcript": "ENST00000872049.1",
          "protein_id": "ENSP00000542108.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 767,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2304,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000872049.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": 16,
          "intron_rank_end": null,
          "gene_symbol": "DMTF1",
          "gene_hgnc_id": 14603,
          "hgvs_c": "c.1495-534A>G",
          "hgvs_p": null,
          "transcript": "NM_021145.4",
          "protein_id": "NP_066968.3",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 760,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2283,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_021145.4"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": 15,
          "intron_rank_end": null,
          "gene_symbol": "DMTF1",
          "gene_hgnc_id": 14603,
          "hgvs_c": "c.1495-534A>G",
          "hgvs_p": null,
          "transcript": "ENST00000872050.1",
          "protein_id": "ENSP00000542109.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 760,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2283,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000872050.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": 16,
          "intron_rank_end": null,
          "gene_symbol": "DMTF1",
          "gene_hgnc_id": 14603,
          "hgvs_c": "c.1495-534A>G",
          "hgvs_p": null,
          "transcript": "ENST00000872051.1",
          "protein_id": "ENSP00000542110.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 760,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2283,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000872051.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": 16,
          "intron_rank_end": null,
          "gene_symbol": "DMTF1",
          "gene_hgnc_id": 14603,
          "hgvs_c": "c.1495-534A>G",
          "hgvs_p": null,
          "transcript": "ENST00000872052.1",
          "protein_id": "ENSP00000542111.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 760,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2283,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000872052.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": 15,
          "intron_rank_end": null,
          "gene_symbol": "DMTF1",
          "gene_hgnc_id": 14603,
          "hgvs_c": "c.1495-534A>G",
          "hgvs_p": null,
          "transcript": "ENST00000872053.1",
          "protein_id": "ENSP00000542112.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 760,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2283,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000872053.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": 15,
          "intron_rank_end": null,
          "gene_symbol": "DMTF1",
          "gene_hgnc_id": 14603,
          "hgvs_c": "c.1495-534A>G",
          "hgvs_p": null,
          "transcript": "ENST00000872054.1",
          "protein_id": "ENSP00000542113.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 760,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2283,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000872054.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": 15,
          "intron_rank_end": null,
          "gene_symbol": "DMTF1",
          "gene_hgnc_id": 14603,
          "hgvs_c": "c.1495-534A>G",
          "hgvs_p": null,
          "transcript": "ENST00000872055.1",
          "protein_id": "ENSP00000542114.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 760,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2283,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000872055.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": 14,
          "intron_rank_end": null,
          "gene_symbol": "DMTF1",
          "gene_hgnc_id": 14603,
          "hgvs_c": "c.1495-534A>G",
          "hgvs_p": null,
          "transcript": "ENST00000931083.1",
          "protein_id": "ENSP00000601142.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 760,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2283,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000931083.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": 17,
          "intron_rank_end": null,
          "gene_symbol": "DMTF1",
          "gene_hgnc_id": 14603,
          "hgvs_c": "c.1495-534A>G",
          "hgvs_p": null,
          "transcript": "ENST00000931084.1",
          "protein_id": "ENSP00000601143.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 760,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2283,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000931084.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": 15,
          "intron_rank_end": null,
          "gene_symbol": "DMTF1",
          "gene_hgnc_id": 14603,
          "hgvs_c": "c.1495-534A>G",
          "hgvs_p": null,
          "transcript": "ENST00000953526.1",
          "protein_id": "ENSP00000623585.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 760,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2283,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000953526.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": 16,
          "intron_rank_end": null,
          "gene_symbol": "DMTF1",
          "gene_hgnc_id": 14603,
          "hgvs_c": "c.1495-534A>G",
          "hgvs_p": null,
          "transcript": "ENST00000953527.1",
          "protein_id": "ENSP00000623586.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
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          "cds_start": null,
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          "cds_length": 2283,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000953527.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": 17,
          "intron_rank_end": null,
          "gene_symbol": "DMTF1",
          "gene_hgnc_id": 14603,
          "hgvs_c": "c.1495-534A>G",
          "hgvs_p": null,
          "transcript": "ENST00000953528.1",
          "protein_id": "ENSP00000623587.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 760,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2283,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000953528.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": 14,
          "intron_rank_end": null,
          "gene_symbol": "DMTF1",
          "gene_hgnc_id": 14603,
          "hgvs_c": "c.1495-534A>G",
          "hgvs_p": null,
          "transcript": "ENST00000953529.1",
          "protein_id": "ENSP00000623588.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 760,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2283,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000953529.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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      "acmg_criteria": "BP4_Strong,BA1",
      "acmg_by_gene": [
        {
          "score": -12,
          "benign_score": 12,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "NM_021145.4",
          "gene_symbol": "DMTF1",
          "hgnc_id": 14603,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.1495-534A>G",
          "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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