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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: 1-19363563-G-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=19363563&ref=G&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "1",
      "pos": 19363563,
      "ref": "G",
      "alt": "C",
      "effect": "intron_variant",
      "transcript": "NM_001282162.2",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "CAPZB",
          "gene_hgnc_id": 1491,
          "hgvs_c": "c.330-6000C>G",
          "hgvs_p": null,
          "transcript": "NM_004930.5",
          "protein_id": "NP_004921.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 272,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 819,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000264202.8",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_004930.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "CAPZB",
          "gene_hgnc_id": 1491,
          "hgvs_c": "c.330-6000C>G",
          "hgvs_p": null,
          "transcript": "ENST00000264202.8",
          "protein_id": "ENSP00000264202.7",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 272,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 819,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_004930.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000264202.8"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "CAPZB",
          "gene_hgnc_id": 1491,
          "hgvs_c": "c.330-6000C>G",
          "hgvs_p": null,
          "transcript": "ENST00000375144.6",
          "protein_id": "ENSP00000364286.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 244,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 735,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000375144.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "CAPZB",
          "gene_hgnc_id": 1491,
          "hgvs_c": "c.417-6000C>G",
          "hgvs_p": null,
          "transcript": "NM_001282162.2",
          "protein_id": "NP_001269091.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 301,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 906,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001282162.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "CAPZB",
          "gene_hgnc_id": 1491,
          "hgvs_c": "c.417-6000C>G",
          "hgvs_p": null,
          "transcript": "ENST00000433834.5",
          "protein_id": "ENSP00000401010.1",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 301,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 906,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000433834.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "CAPZB",
          "gene_hgnc_id": 1491,
          "hgvs_c": "c.330-6000C>G",
          "hgvs_p": null,
          "transcript": "ENST00000915220.1",
          "protein_id": "ENSP00000585279.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 296,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 891,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000915220.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "CAPZB",
          "gene_hgnc_id": 1491,
          "hgvs_c": "c.381-6000C>G",
          "hgvs_p": null,
          "transcript": "ENST00000898919.1",
          "protein_id": "ENSP00000568978.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 289,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 870,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000898919.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "CAPZB",
          "gene_hgnc_id": 1491,
          "hgvs_c": "c.375-6000C>G",
          "hgvs_p": null,
          "transcript": "ENST00000915222.1",
          "protein_id": "ENSP00000585281.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 287,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 864,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000915222.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "CAPZB",
          "gene_hgnc_id": 1491,
          "hgvs_c": "c.375-6000C>G",
          "hgvs_p": null,
          "transcript": "ENST00000943721.1",
          "protein_id": "ENSP00000613780.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 287,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 864,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000943721.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "CAPZB",
          "gene_hgnc_id": 1491,
          "hgvs_c": "c.330-6000C>G",
          "hgvs_p": null,
          "transcript": "NM_001206540.3",
          "protein_id": "NP_001193469.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 277,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 834,
          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": null,
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          "canonical": false,
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          "consequences": [
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          ],
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          "gene_symbol": "CAPZB",
          "gene_hgnc_id": 1491,
          "hgvs_c": "c.330-6000C>G",
          "hgvs_p": null,
          "transcript": "ENST00000375142.6",
          "protein_id": "ENSP00000364284.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 277,
          "cds_start": null,
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          "cds_length": 834,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
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        },
        {
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          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
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          "exon_count": 9,
          "intron_rank": 4,
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          "gene_symbol": "CAPZB",
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          "hgvs_c": "c.330-6000C>G",
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          "cds_start": null,
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          "cdna_start": null,
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        {
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          "gene_symbol": "CAPZB",
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          "hgvs_c": "c.330-6000C>G",
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          "transcript": "ENST00000915219.1",
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        {
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          "gene_symbol": "CAPZB",
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          "hgvs_c": "c.330-6000C>G",
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        {
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        {
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          "gene_symbol": "CAPZB",
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        {
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          "gene_symbol": "CAPZB",
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          "hgvs_c": "c.330-6000C>G",
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          "protein_id": "ENSP00000568977.1",
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          "aa_length": 233,
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          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
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}
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.