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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: 18-76378900-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=76378900&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "18",
      "pos": 76378900,
      "ref": "G",
      "alt": "A",
      "effect": "missense_variant",
      "transcript": "NM_014643.4",
      "consequences": [
        {
          "aa_ref": "L",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF516",
          "gene_hgnc_id": 28990,
          "hgvs_c": "c.3214C>T",
          "hgvs_p": "p.Leu1072Phe",
          "transcript": "NM_014643.4",
          "protein_id": "NP_055458.1",
          "transcript_support_level": null,
          "aa_start": 1072,
          "aa_end": null,
          "aa_length": 1163,
          "cds_start": 3214,
          "cds_end": null,
          "cds_length": 3492,
          "cdna_start": 3584,
          "cdna_end": null,
          "cdna_length": 8678,
          "mane_select": "ENST00000443185.7",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_014643.4"
        },
        {
          "aa_ref": "L",
          "aa_alt": "F",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF516",
          "gene_hgnc_id": 28990,
          "hgvs_c": "c.3214C>T",
          "hgvs_p": "p.Leu1072Phe",
          "transcript": "ENST00000443185.7",
          "protein_id": "ENSP00000394757.2",
          "transcript_support_level": 1,
          "aa_start": 1072,
          "aa_end": null,
          "aa_length": 1163,
          "cds_start": 3214,
          "cds_end": null,
          "cds_length": 3492,
          "cdna_start": 3584,
          "cdna_end": null,
          "cdna_length": 8678,
          "mane_select": "NM_014643.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000443185.7"
        },
        {
          "aa_ref": "L",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF516",
          "gene_hgnc_id": 28990,
          "hgvs_c": "c.1384C>T",
          "hgvs_p": "p.Leu462Phe",
          "transcript": "ENST00000617840.1",
          "protein_id": "ENSP00000478712.1",
          "transcript_support_level": 1,
          "aa_start": 462,
          "aa_end": null,
          "aa_length": 516,
          "cds_start": 1384,
          "cds_end": null,
          "cds_length": 1551,
          "cdna_start": 1386,
          "cdna_end": null,
          "cdna_length": 2326,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000617840.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF516",
          "gene_hgnc_id": 28990,
          "hgvs_c": "c.3214C>T",
          "hgvs_p": "p.Leu1072Phe",
          "transcript": "ENST00000871208.1",
          "protein_id": "ENSP00000541267.1",
          "transcript_support_level": null,
          "aa_start": 1072,
          "aa_end": null,
          "aa_length": 1163,
          "cds_start": 3214,
          "cds_end": null,
          "cds_length": 3492,
          "cdna_start": 3450,
          "cdna_end": null,
          "cdna_length": 3969,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000871208.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF516",
          "gene_hgnc_id": 28990,
          "hgvs_c": "c.3214C>T",
          "hgvs_p": "p.Leu1072Phe",
          "transcript": "ENST00000871209.1",
          "protein_id": "ENSP00000541268.1",
          "transcript_support_level": null,
          "aa_start": 1072,
          "aa_end": null,
          "aa_length": 1163,
          "cds_start": 3214,
          "cds_end": null,
          "cds_length": 3492,
          "cdna_start": 3438,
          "cdna_end": null,
          "cdna_length": 5215,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000871209.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF516",
          "gene_hgnc_id": 28990,
          "hgvs_c": "c.3214C>T",
          "hgvs_p": "p.Leu1072Phe",
          "transcript": "ENST00000871210.1",
          "protein_id": "ENSP00000541269.1",
          "transcript_support_level": null,
          "aa_start": 1072,
          "aa_end": null,
          "aa_length": 1163,
          "cds_start": 3214,
          "cds_end": null,
          "cds_length": 3492,
          "cdna_start": 3550,
          "cdna_end": null,
          "cdna_length": 4050,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000871210.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF516",
          "gene_hgnc_id": 28990,
          "hgvs_c": "c.3214C>T",
          "hgvs_p": "p.Leu1072Phe",
          "transcript": "ENST00000915360.1",
          "protein_id": "ENSP00000585419.1",
          "transcript_support_level": null,
          "aa_start": 1072,
          "aa_end": null,
          "aa_length": 1163,
          "cds_start": 3214,
          "cds_end": null,
          "cds_length": 3492,
          "cdna_start": 3531,
          "cdna_end": null,
          "cdna_length": 8130,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000915360.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF516",
          "gene_hgnc_id": 28990,
          "hgvs_c": "c.3214C>T",
          "hgvs_p": "p.Leu1072Phe",
          "transcript": "ENST00000915361.1",
          "protein_id": "ENSP00000585420.1",
          "transcript_support_level": null,
          "aa_start": 1072,
          "aa_end": null,
          "aa_length": 1163,
          "cds_start": 3214,
          "cds_end": null,
          "cds_length": 3492,
          "cdna_start": 3578,
          "cdna_end": null,
          "cdna_length": 6464,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000915361.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF516",
          "gene_hgnc_id": 28990,
          "hgvs_c": "c.3214C>T",
          "hgvs_p": "p.Leu1072Phe",
          "transcript": "ENST00000915362.1",
          "protein_id": "ENSP00000585421.1",
          "transcript_support_level": null,
          "aa_start": 1072,
          "aa_end": null,
          "aa_length": 1163,
          "cds_start": 3214,
          "cds_end": null,
          "cds_length": 3492,
          "cdna_start": 3442,
          "cdna_end": null,
          "cdna_length": 8025,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000915362.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF516",
          "gene_hgnc_id": 28990,
          "hgvs_c": "c.3214C>T",
          "hgvs_p": "p.Leu1072Phe",
          "transcript": "ENST00000957637.1",
          "protein_id": "ENSP00000627696.1",
          "transcript_support_level": null,
          "aa_start": 1072,
          "aa_end": null,
          "aa_length": 1163,
          "cds_start": 3214,
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          "cdna_start": 3470,
          "cdna_end": null,
          "cdna_length": 6577,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000957637.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF516",
          "gene_hgnc_id": 28990,
          "hgvs_c": "c.3214C>T",
          "hgvs_p": "p.Leu1072Phe",
          "transcript": "ENST00000957638.1",
          "protein_id": "ENSP00000627697.1",
          "transcript_support_level": null,
          "aa_start": 1072,
          "aa_end": null,
          "aa_length": 1163,
          "cds_start": 3214,
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          "cdna_start": 4144,
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          "cdna_length": 4646,
          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "L",
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          ],
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          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF516",
          "gene_hgnc_id": 28990,
          "hgvs_c": "c.3214C>T",
          "hgvs_p": "p.Leu1072Phe",
          "transcript": "ENST00000957639.1",
          "protein_id": "ENSP00000627698.1",
          "transcript_support_level": null,
          "aa_start": 1072,
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          "aa_length": 1163,
          "cds_start": 3214,
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          "cdna_start": 3664,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000957639.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "F",
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          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 1,
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          "exon_count": 2,
          "intron_rank": null,
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          "gene_symbol": "ZNF516",
          "gene_hgnc_id": 28990,
          "hgvs_c": "c.13C>T",
          "hgvs_p": "p.Leu5Phe",
          "transcript": "ENST00000542818.1",
          "protein_id": "ENSP00000445902.1",
          "transcript_support_level": 2,
          "aa_start": 5,
          "aa_end": null,
          "aa_length": 24,
          "cds_start": 13,
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          "cdna_start": 14,
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          "cdna_length": 346,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000542818.1"
        },
        {
          "aa_ref": "L",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
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          "gene_symbol": "ZNF516",
          "gene_hgnc_id": 28990,
          "hgvs_c": "c.3214C>T",
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          "transcript": "XM_011526269.3",
          "protein_id": "XP_011524571.1",
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        {
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          "intron_rank": null,
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          "gene_symbol": "ZNF516",
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          "hgvs_c": "c.3214C>T",
          "hgvs_p": "p.Leu1072Phe",
          "transcript": "XM_011526270.4",
          "protein_id": "XP_011524572.1",
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          "cdna_length": 8889,
          "mane_select": null,
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        },
        {
          "aa_ref": "L",
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          "consequences": [
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          ],
          "exon_rank": 3,
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          "exon_count": 6,
          "intron_rank": null,
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          "gene_symbol": "ZNF516",
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          "hgvs_c": "c.3214C>T",
          "hgvs_p": "p.Leu1072Phe",
          "transcript": "XM_011526273.4",
          "protein_id": "XP_011524575.1",
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        {
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          ],
          "exon_rank": 3,
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          "exon_count": 6,
          "intron_rank": null,
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          "gene_symbol": "ZNF516",
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          "hgvs_c": "c.3214C>T",
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        {
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        {
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          "gene_symbol": "ZNF516",
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          "transcript": "XM_017026097.3",
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          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "L",
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          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZNF516",
          "gene_hgnc_id": 28990,
          "hgvs_c": "c.3214C>T",
          "hgvs_p": "p.Leu1072Phe",
          "transcript": "XM_047437950.1",
          "protein_id": "XP_047293906.1",
          "transcript_support_level": null,
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      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
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      "custom_annotations": null
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  "message": null
}
For research and educational, non-commercial use only. Not for clinical or diagnostic use. GeneBe does not provide medical advice. Data use for AI modeling is prohibited: if used, the cost is $0.001 per byte of downloaded uncompressed data.