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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: 19-51413809-G-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=51413809&ref=G&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "19",
      "pos": 51413809,
      "ref": "G",
      "alt": "C",
      "effect": "missense_variant",
      "transcript": "NM_033130.5",
      "consequences": [
        {
          "aa_ref": "P",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SIGLEC10",
          "gene_hgnc_id": 15620,
          "hgvs_c": "c.1724C>G",
          "hgvs_p": "p.Pro575Arg",
          "transcript": "NM_033130.5",
          "protein_id": "NP_149121.2",
          "transcript_support_level": null,
          "aa_start": 575,
          "aa_end": null,
          "aa_length": 697,
          "cds_start": 1724,
          "cds_end": null,
          "cds_length": 2094,
          "cdna_start": 1785,
          "cdna_end": null,
          "cdna_length": 3234,
          "mane_select": "ENST00000339313.10",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_033130.5"
        },
        {
          "aa_ref": "P",
          "aa_alt": "R",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SIGLEC10",
          "gene_hgnc_id": 15620,
          "hgvs_c": "c.1724C>G",
          "hgvs_p": "p.Pro575Arg",
          "transcript": "ENST00000339313.10",
          "protein_id": "ENSP00000345243.4",
          "transcript_support_level": 1,
          "aa_start": 575,
          "aa_end": null,
          "aa_length": 697,
          "cds_start": 1724,
          "cds_end": null,
          "cds_length": 2094,
          "cdna_start": 1785,
          "cdna_end": null,
          "cdna_length": 3234,
          "mane_select": "NM_033130.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000339313.10"
        },
        {
          "aa_ref": "P",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SIGLEC10",
          "gene_hgnc_id": 15620,
          "hgvs_c": "c.1550C>G",
          "hgvs_p": "p.Pro517Arg",
          "transcript": "ENST00000439889.6",
          "protein_id": "ENSP00000389132.2",
          "transcript_support_level": 1,
          "aa_start": 517,
          "aa_end": null,
          "aa_length": 639,
          "cds_start": 1550,
          "cds_end": null,
          "cds_length": 1920,
          "cdna_start": 1706,
          "cdna_end": null,
          "cdna_length": 2126,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000439889.6"
        },
        {
          "aa_ref": "P",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SIGLEC10",
          "gene_hgnc_id": 15620,
          "hgvs_c": "c.1439C>G",
          "hgvs_p": "p.Pro480Arg",
          "transcript": "ENST00000353836.9",
          "protein_id": "ENSP00000342389.5",
          "transcript_support_level": 1,
          "aa_start": 480,
          "aa_end": null,
          "aa_length": 602,
          "cds_start": 1439,
          "cds_end": null,
          "cds_length": 1809,
          "cdna_start": 1661,
          "cdna_end": null,
          "cdna_length": 3109,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000353836.9"
        },
        {
          "aa_ref": "P",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SIGLEC10",
          "gene_hgnc_id": 15620,
          "hgvs_c": "c.1265C>G",
          "hgvs_p": "p.Pro422Arg",
          "transcript": "ENST00000441969.7",
          "protein_id": "ENSP00000408387.2",
          "transcript_support_level": 1,
          "aa_start": 422,
          "aa_end": null,
          "aa_length": 544,
          "cds_start": 1265,
          "cds_end": null,
          "cds_length": 1635,
          "cdna_start": 1320,
          "cdna_end": null,
          "cdna_length": 2768,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000441969.7"
        },
        {
          "aa_ref": "P",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SIGLEC10",
          "gene_hgnc_id": 15620,
          "hgvs_c": "c.1580C>G",
          "hgvs_p": "p.Pro527Arg",
          "transcript": "ENST00000961808.1",
          "protein_id": "ENSP00000631867.1",
          "transcript_support_level": null,
          "aa_start": 527,
          "aa_end": null,
          "aa_length": 649,
          "cds_start": 1580,
          "cds_end": null,
          "cds_length": 1950,
          "cdna_start": 1665,
          "cdna_end": null,
          "cdna_length": 3113,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000961808.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SIGLEC10",
          "gene_hgnc_id": 15620,
          "hgvs_c": "c.1550C>G",
          "hgvs_p": "p.Pro517Arg",
          "transcript": "NM_001171156.2",
          "protein_id": "NP_001164627.1",
          "transcript_support_level": null,
          "aa_start": 517,
          "aa_end": null,
          "aa_length": 639,
          "cds_start": 1550,
          "cds_end": null,
          "cds_length": 1920,
          "cdna_start": 1611,
          "cdna_end": null,
          "cdna_length": 3060,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001171156.2"
        },
        {
          "aa_ref": "P",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SIGLEC10",
          "gene_hgnc_id": 15620,
          "hgvs_c": "c.1454C>G",
          "hgvs_p": "p.Pro485Arg",
          "transcript": "ENST00000961807.1",
          "protein_id": "ENSP00000631866.1",
          "transcript_support_level": null,
          "aa_start": 485,
          "aa_end": null,
          "aa_length": 607,
          "cds_start": 1454,
          "cds_end": null,
          "cds_length": 1824,
          "cdna_start": 1585,
          "cdna_end": null,
          "cdna_length": 3032,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000961807.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SIGLEC10",
          "gene_hgnc_id": 15620,
          "hgvs_c": "c.1439C>G",
          "hgvs_p": "p.Pro480Arg",
          "transcript": "NM_001171157.2",
          "protein_id": "NP_001164628.1",
          "transcript_support_level": null,
          "aa_start": 480,
          "aa_end": null,
          "aa_length": 602,
          "cds_start": 1439,
          "cds_end": null,
          "cds_length": 1809,
          "cdna_start": 1500,
          "cdna_end": null,
          "cdna_length": 2949,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001171157.2"
        },
        {
          "aa_ref": "P",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SIGLEC10",
          "gene_hgnc_id": 15620,
          "hgvs_c": "c.1295C>G",
          "hgvs_p": "p.Pro432Arg",
          "transcript": "NM_001171158.2",
          "protein_id": "NP_001164629.1",
          "transcript_support_level": null,
          "aa_start": 432,
          "aa_end": null,
          "aa_length": 554,
          "cds_start": 1295,
          "cds_end": null,
          "cds_length": 1665,
          "cdna_start": 1356,
          "cdna_end": null,
          "cdna_length": 2805,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001171158.2"
        },
        {
          "aa_ref": "P",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SIGLEC10",
          "gene_hgnc_id": 15620,
          "hgvs_c": "c.1295C>G",
          "hgvs_p": "p.Pro432Arg",
          "transcript": "ENST00000436984.6",
          "protein_id": "ENSP00000414324.2",
          "transcript_support_level": 2,
          "aa_start": 432,
          "aa_end": null,
          "aa_length": 554,
          "cds_start": 1295,
          "cds_end": null,
          "cds_length": 1665,
          "cdna_start": 1356,
          "cdna_end": null,
          "cdna_length": 1776,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000436984.6"
        },
        {
          "aa_ref": "P",
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          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 9,
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          "exon_count": 10,
          "intron_rank": null,
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          "gene_symbol": "SIGLEC10",
          "gene_hgnc_id": 15620,
          "hgvs_c": "c.1265C>G",
          "hgvs_p": "p.Pro422Arg",
          "transcript": "NM_001171159.2",
          "protein_id": "NP_001164630.1",
          "transcript_support_level": null,
          "aa_start": 422,
          "aa_end": null,
          "aa_length": 544,
          "cds_start": 1265,
          "cds_end": null,
          "cds_length": 1635,
          "cdna_start": 1326,
          "cdna_end": null,
          "cdna_length": 2775,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "NM_001171159.2"
        },
        {
          "aa_ref": "P",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SIGLEC10",
          "gene_hgnc_id": 15620,
          "hgvs_c": "c.1169C>G",
          "hgvs_p": "p.Pro390Arg",
          "transcript": "NM_001322105.2",
          "protein_id": "NP_001309034.1",
          "transcript_support_level": null,
          "aa_start": 390,
          "aa_end": null,
          "aa_length": 512,
          "cds_start": 1169,
          "cds_end": null,
          "cds_length": 1539,
          "cdna_start": 1230,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "NM_001322105.2"
        },
        {
          "aa_ref": "P",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SIGLEC10",
          "gene_hgnc_id": 15620,
          "hgvs_c": "c.1169C>G",
          "hgvs_p": "p.Pro390Arg",
          "transcript": "ENST00000525998.5",
          "protein_id": "ENSP00000431444.1",
          "transcript_support_level": 2,
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          "aa_end": null,
          "aa_length": 512,
          "cds_start": 1169,
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        },
        {
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          "exon_count": 9,
          "intron_rank": null,
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          "gene_symbol": "SIGLEC10",
          "gene_hgnc_id": 15620,
          "hgvs_c": "c.1025C>G",
          "hgvs_p": "p.Pro342Arg",
          "transcript": "ENST00000961809.1",
          "protein_id": "ENSP00000631868.1",
          "transcript_support_level": null,
          "aa_start": 342,
          "aa_end": null,
          "aa_length": 464,
          "cds_start": 1025,
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          "cds_length": 1395,
          "cdna_start": 1085,
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          "cdna_length": 1887,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000961809.1"
        },
        {
          "aa_ref": "P",
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          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SIGLEC10",
          "gene_hgnc_id": 15620,
          "hgvs_c": "c.995C>G",
          "hgvs_p": "p.Pro332Arg",
          "transcript": "NM_001171161.2",
          "protein_id": "NP_001164632.1",
          "transcript_support_level": null,
          "aa_start": 332,
          "aa_end": null,
          "aa_length": 454,
          "cds_start": 995,
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          "biotype": "protein_coding",
          "feature": "NM_001171161.2"
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        {
          "aa_ref": "P",
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          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
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          "exon_count": 9,
          "intron_rank": null,
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          "gene_symbol": "SIGLEC10",
          "gene_hgnc_id": 15620,
          "hgvs_c": "c.995C>G",
          "hgvs_p": "p.Pro332Arg",
          "transcript": "ENST00000442846.7",
          "protein_id": "ENSP00000395475.2",
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        {
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          "gene_symbol": "SIGLEC10",
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          "hgvs_c": "c.1625C>G",
          "hgvs_p": "p.Pro542Arg",
          "transcript": "XM_047439600.1",
          "protein_id": "XP_047295556.1",
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        {
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          "gene_symbol": "SIGLEC10",
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          "hgvs_p": "p.Pro527Arg",
          "transcript": "XM_047439604.1",
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          "cdna_length": 3090,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "XM_047439604.1"
        },
        {
          "aa_ref": "P",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SIGLEC10",
          "gene_hgnc_id": 15620,
          "hgvs_c": "c.1481C>G",
          "hgvs_p": "p.Pro494Arg",
          "transcript": "XM_047439601.1",
          "protein_id": "XP_047295557.1",
          "transcript_support_level": null,
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          "aa_length": 616,
          "cds_start": 1481,
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      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
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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.