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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: 10-42638638-C-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=42638638&ref=C&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "10",
      "pos": 42638638,
      "ref": "C",
      "alt": "G",
      "effect": "non_coding_transcript_exon_variant",
      "transcript": "ENST00000737013.1",
      "consequences": [
        {
          "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": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000285884",
          "gene_hgnc_id": null,
          "hgvs_c": "n.350C>G",
          "hgvs_p": null,
          "transcript": "ENST00000737013.1",
          "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": "pseudogene",
          "feature": "ENST00000737013.1"
        },
        {
          "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": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000285884",
          "gene_hgnc_id": null,
          "hgvs_c": "n.334C>G",
          "hgvs_p": null,
          "transcript": "ENST00000737015.1",
          "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": "pseudogene",
          "feature": "ENST00000737015.1"
        },
        {
          "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": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000285884",
          "gene_hgnc_id": null,
          "hgvs_c": "n.309C>G",
          "hgvs_p": null,
          "transcript": "ENST00000737017.1",
          "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": "pseudogene",
          "feature": "ENST00000737017.1"
        },
        {
          "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": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LOC105378268",
          "gene_hgnc_id": null,
          "hgvs_c": "n.334C>G",
          "hgvs_p": null,
          "transcript": "XR_007062124.1",
          "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": "pseudogene",
          "feature": "XR_007062124.1"
        },
        {
          "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": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LOC105378268",
          "gene_hgnc_id": null,
          "hgvs_c": "n.334C>G",
          "hgvs_p": null,
          "transcript": "XR_007062125.1",
          "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": "pseudogene",
          "feature": "XR_007062125.1"
        },
        {
          "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": 2,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000285884",
          "gene_hgnc_id": null,
          "hgvs_c": "n.325+85C>G",
          "hgvs_p": null,
          "transcript": "ENST00000649715.4",
          "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": "pseudogene",
          "feature": "ENST00000649715.4"
        },
        {
          "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": 2,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000285884",
          "gene_hgnc_id": null,
          "hgvs_c": "n.219+500C>G",
          "hgvs_p": null,
          "transcript": "ENST00000737012.1",
          "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": "pseudogene",
          "feature": "ENST00000737012.1"
        },
        {
          "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": 2,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000285884",
          "gene_hgnc_id": null,
          "hgvs_c": "n.292+42C>G",
          "hgvs_p": null,
          "transcript": "ENST00000737014.1",
          "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": "pseudogene",
          "feature": "ENST00000737014.1"
        },
        {
          "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": 3,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000285884",
          "gene_hgnc_id": null,
          "hgvs_c": "n.224+85C>G",
          "hgvs_p": null,
          "transcript": "ENST00000737016.1",
          "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": "pseudogene",
          "feature": "ENST00000737016.1"
        },
        {
          "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": 2,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "LOC105378268",
          "gene_hgnc_id": null,
          "hgvs_c": "n.249+85C>G",
          "hgvs_p": null,
          "transcript": "XR_945898.3",
          "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": "pseudogene",
          "feature": "XR_945898.3"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF33B",
          "gene_hgnc_id": 13097,
          "hgvs_c": "c.-209G>C",
          "hgvs_p": null,
          "transcript": "NM_006955.3",
          "protein_id": "NP_008886.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 778,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2337,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000359467.8",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_006955.3"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF33B",
          "gene_hgnc_id": 13097,
          "hgvs_c": "c.-209G>C",
          "hgvs_p": null,
          "transcript": "ENST00000359467.8",
          "protein_id": "ENSP00000352444.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 778,
          "cds_start": null,
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          "cds_length": 2337,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": "NM_006955.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000359467.8"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
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          "gene_symbol": "ZNF33B",
          "gene_hgnc_id": 13097,
          "hgvs_c": "c.-209G>C",
          "hgvs_p": null,
          "transcript": "ENST00000876416.1",
          "protein_id": "ENSP00000546475.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 802,
          "cds_start": null,
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          "cds_length": 2409,
          "cdna_start": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000876416.1"
        },
        {
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          "protein_coding": true,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
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          "exon_count": 6,
          "intron_rank": null,
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          "gene_symbol": "ZNF33B",
          "gene_hgnc_id": 13097,
          "hgvs_c": "c.-209G>C",
          "hgvs_p": null,
          "transcript": "ENST00000876415.1",
          "protein_id": "ENSP00000546474.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 801,
          "cds_start": null,
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          "cds_length": 2406,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000876415.1"
        },
        {
          "aa_ref": null,
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          "strand": true,
          "consequences": [
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          ],
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          "exon_count": 4,
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          "gene_symbol": "ZNF33B",
          "gene_hgnc_id": 13097,
          "hgvs_c": "c.-135G>C",
          "hgvs_p": null,
          "transcript": "NM_001305033.2",
          "protein_id": "NP_001291962.1",
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          "biotype": "protein_coding",
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        },
        {
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          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 5,
          "intron_rank": null,
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          "gene_symbol": "ZNF33B",
          "gene_hgnc_id": 13097,
          "hgvs_c": "c.-209G>C",
          "hgvs_p": null,
          "transcript": "ENST00000876414.1",
          "protein_id": "ENSP00000546473.1",
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          "aa_length": 777,
          "cds_start": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
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          "exon_count": 6,
          "intron_rank": null,
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          "gene_symbol": "ZNF33B",
          "gene_hgnc_id": 13097,
          "hgvs_c": "c.-622G>C",
          "hgvs_p": null,
          "transcript": "NM_001305035.2",
          "protein_id": "NP_001291964.1",
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          "aa_length": 666,
          "cds_start": null,
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          "cdna_start": null,
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          "biotype": "protein_coding",
          "feature": "NM_001305035.2"
        },
        {
          "aa_ref": null,
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          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
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          "exon_count": 5,
          "intron_rank": null,
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          "gene_symbol": "ZNF33B",
          "gene_hgnc_id": 13097,
          "hgvs_c": "c.-550G>C",
          "hgvs_p": null,
          "transcript": "NM_001305036.2",
          "protein_id": "NP_001291965.1",
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        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
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          "exon_count": 5,
          "intron_rank": null,
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          "gene_symbol": "ZNF33B",
          "gene_hgnc_id": 13097,
          "hgvs_c": "c.-477G>C",
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          "transcript": "NM_001305037.2",
          "protein_id": "NP_001291966.1",
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          "biotype": "protein_coding",
          "feature": "NM_001305037.2"
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
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          "exon_count": 5,
          "intron_rank": null,
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          "gene_symbol": "ZNF33B",
          "gene_hgnc_id": 13097,
          "hgvs_c": "c.-569G>C",
          "hgvs_p": null,
          "transcript": "NM_001305038.2",
          "protein_id": "NP_001291967.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 666,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2001,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001305038.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF33B",
          "gene_hgnc_id": 13097,
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      "gnomad_mito_homoplasmic": null,
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      "computational_score_selected": -0.800000011920929,
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      "acmg_score": -2,
      "acmg_classification": "Likely_benign",
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      "acmg_by_gene": [
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          "verdict": "Likely_benign",
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          "verdict": "Likely_benign",
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          "effects": [
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        {
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          "pathogenic_score": 2,
          "criteria": [
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            "BP4_Strong"
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          "verdict": "Likely_benign",
          "transcript": "NM_001305033.2",
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          "hgnc_id": 13097,
          "effects": [
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          "inheritance_mode": "AR",
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      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
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  "message": null
}