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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: 10-24542576-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=24542576&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "10",
      "pos": 24542576,
      "ref": "G",
      "alt": "A",
      "effect": "intron_variant",
      "transcript": "NM_019590.5",
      "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": 21,
          "intron_rank": 17,
          "intron_rank_end": null,
          "gene_symbol": "KIAA1217",
          "gene_hgnc_id": 25428,
          "hgvs_c": "c.3535-117G>A",
          "hgvs_p": null,
          "transcript": "NM_019590.5",
          "protein_id": "NP_062536.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1943,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 5832,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000376454.8",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_019590.5"
        },
        {
          "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": 21,
          "intron_rank": 17,
          "intron_rank_end": null,
          "gene_symbol": "KIAA1217",
          "gene_hgnc_id": 25428,
          "hgvs_c": "c.3535-117G>A",
          "hgvs_p": null,
          "transcript": "ENST00000376454.8",
          "protein_id": "ENSP00000365637.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1943,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 5832,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_019590.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000376454.8"
        },
        {
          "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": 15,
          "intron_rank": 12,
          "intron_rank_end": null,
          "gene_symbol": "KIAA1217",
          "gene_hgnc_id": 25428,
          "hgvs_c": "c.2584-117G>A",
          "hgvs_p": null,
          "transcript": "ENST00000376451.4",
          "protein_id": "ENSP00000365634.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1465,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 4398,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000376451.4"
        },
        {
          "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": 16,
          "intron_rank_end": null,
          "gene_symbol": "KIAA1217",
          "gene_hgnc_id": 25428,
          "hgvs_c": "c.3427-117G>A",
          "hgvs_p": null,
          "transcript": "ENST00000376452.7",
          "protein_id": "ENSP00000365635.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1374,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 4125,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000376452.7"
        },
        {
          "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": 16,
          "intron_rank_end": null,
          "gene_symbol": "KIAA1217",
          "gene_hgnc_id": 25428,
          "hgvs_c": "c.3430-2405G>A",
          "hgvs_p": null,
          "transcript": "ENST00000458595.5",
          "protein_id": "ENSP00000392625.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1349,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 4050,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000458595.5"
        },
        {
          "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": 19,
          "intron_rank": 17,
          "intron_rank_end": null,
          "gene_symbol": "KIAA1217",
          "gene_hgnc_id": 25428,
          "hgvs_c": "c.3175-2405G>A",
          "hgvs_p": null,
          "transcript": "ENST00000376462.5",
          "protein_id": "ENSP00000365645.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1264,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3795,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000376462.5"
        },
        {
          "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": 14,
          "intron_rank": 12,
          "intron_rank_end": null,
          "gene_symbol": "KIAA1217",
          "gene_hgnc_id": 25428,
          "hgvs_c": "c.2584-117G>A",
          "hgvs_p": null,
          "transcript": "ENST00000307544.10",
          "protein_id": "ENSP00000302343.6",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 932,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2799,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000307544.10"
        },
        {
          "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": 13,
          "intron_rank": 12,
          "intron_rank_end": null,
          "gene_symbol": "KIAA1217",
          "gene_hgnc_id": 25428,
          "hgvs_c": "c.2584-2405G>A",
          "hgvs_p": null,
          "transcript": "ENST00000396445.5",
          "protein_id": "ENSP00000379722.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 906,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2721,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000396445.5"
        },
        {
          "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": 12,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "KIAA1217",
          "gene_hgnc_id": 25428,
          "hgvs_c": "c.2464-2405G>A",
          "hgvs_p": null,
          "transcript": "ENST00000396446.5",
          "protein_id": "ENSP00000379723.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 866,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2601,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000396446.5"
        },
        {
          "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": "KIAA1217",
          "gene_hgnc_id": 25428,
          "hgvs_c": "n.157G>A",
          "hgvs_p": null,
          "transcript": "ENST00000492009.1",
          "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": "ENST00000492009.1"
        },
        {
          "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": "KIAA1217",
          "gene_hgnc_id": 25428,
          "hgvs_c": "c.3511-117G>A",
          "hgvs_p": null,
          "transcript": "ENST00000881133.1",
          "protein_id": "ENSP00000551192.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1935,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 5808,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000881133.1"
        },
        {
          "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": "KIAA1217",
          "gene_hgnc_id": 25428,
          "hgvs_c": "c.3397-117G>A",
          "hgvs_p": null,
          "transcript": "ENST00000881135.1",
          "protein_id": "ENSP00000551194.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1897,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 5694,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000881135.1"
        },
        {
          "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": "KIAA1217",
          "gene_hgnc_id": 25428,
          "hgvs_c": "c.3394-117G>A",
          "hgvs_p": null,
          "transcript": "ENST00000914454.1",
          "protein_id": "ENSP00000584513.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1896,
          "cds_start": null,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000914454.1"
        },
        {
          "aa_ref": null,
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          "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": "KIAA1217",
          "gene_hgnc_id": 25428,
          "hgvs_c": "c.3298-117G>A",
          "hgvs_p": null,
          "transcript": "ENST00000696626.1",
          "protein_id": "ENSP00000512763.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1864,
          "cds_start": null,
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          "cds_length": 5595,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000696626.1"
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 17,
          "intron_rank": 13,
          "intron_rank_end": null,
          "gene_symbol": "KIAA1217",
          "gene_hgnc_id": 25428,
          "hgvs_c": "c.2656-117G>A",
          "hgvs_p": null,
          "transcript": "ENST00000914453.1",
          "protein_id": "ENSP00000584512.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 1650,
          "cds_start": null,
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          "cds_length": 4953,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000914453.1"
        },
        {
          "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": 17,
          "intron_rank_end": null,
          "gene_symbol": "KIAA1217",
          "gene_hgnc_id": 25428,
          "hgvs_c": "c.3535-2405G>A",
          "hgvs_p": null,
          "transcript": "ENST00000881132.1",
          "protein_id": "ENSP00000551191.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1384,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 4155,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000881132.1"
        },
        {
          "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": 16,
          "intron_rank_end": null,
          "gene_symbol": "KIAA1217",
          "gene_hgnc_id": 25428,
          "hgvs_c": "c.3427-117G>A",
          "hgvs_p": null,
          "transcript": "NM_001282767.2",
          "protein_id": "NP_001269696.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1374,
          "cds_start": null,
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          "cds_length": 4125,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "NM_001282767.2"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 18,
          "intron_rank": 16,
          "intron_rank_end": null,
          "gene_symbol": "KIAA1217",
          "gene_hgnc_id": 25428,
          "hgvs_c": "c.3430-2405G>A",
          "hgvs_p": null,
          "transcript": "NM_001282768.2",
          "protein_id": "NP_001269697.1",
          "transcript_support_level": null,
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          "aa_length": 1349,
          "cds_start": null,
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          "cds_length": 4050,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "NM_001282768.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 18,
          "intron_rank": 16,
          "intron_rank_end": null,
          "gene_symbol": "KIAA1217",
          "gene_hgnc_id": 25428,
          "hgvs_c": "c.3394-2405G>A",
          "hgvs_p": null,
          "transcript": "ENST00000881136.1",
          "protein_id": "ENSP00000551195.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 1337,
          "cds_start": null,
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          "cds_length": 4014,
          "cdna_start": null,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000881136.1"
        },
        {
          "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": 16,
          "intron_rank_end": null,
          "gene_symbol": "KIAA1217",
          "gene_hgnc_id": 25428,
          "hgvs_c": "c.3391-2405G>A",
          "hgvs_p": null,
          "transcript": "ENST00000881134.1",
          "protein_id": "ENSP00000551193.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1336,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 4011,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000881134.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
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}