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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: 22-20465035-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=20465035&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "22",
      "pos": 20465035,
      "ref": "G",
      "alt": "A",
      "effect": "missense_variant",
      "transcript": "NM_032775.4",
      "consequences": [
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "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": "KLHL22",
          "gene_hgnc_id": 25888,
          "hgvs_c": "c.935C>T",
          "hgvs_p": "p.Thr312Ile",
          "transcript": "NM_032775.4",
          "protein_id": "NP_116164.2",
          "transcript_support_level": null,
          "aa_start": 312,
          "aa_end": null,
          "aa_length": 634,
          "cds_start": 935,
          "cds_end": null,
          "cds_length": 1905,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000328879.9",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_032775.4"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "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": "KLHL22",
          "gene_hgnc_id": 25888,
          "hgvs_c": "c.935C>T",
          "hgvs_p": "p.Thr312Ile",
          "transcript": "ENST00000328879.9",
          "protein_id": "ENSP00000331682.4",
          "transcript_support_level": 1,
          "aa_start": 312,
          "aa_end": null,
          "aa_length": 634,
          "cds_start": 935,
          "cds_end": null,
          "cds_length": 1905,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_032775.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000328879.9"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "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": "KLHL22",
          "gene_hgnc_id": 25888,
          "hgvs_c": "c.935C>T",
          "hgvs_p": "p.Thr312Ile",
          "transcript": "ENST00000871932.1",
          "protein_id": "ENSP00000541991.1",
          "transcript_support_level": null,
          "aa_start": 312,
          "aa_end": null,
          "aa_length": 634,
          "cds_start": 935,
          "cds_end": null,
          "cds_length": 1905,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000871932.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "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": "KLHL22",
          "gene_hgnc_id": 25888,
          "hgvs_c": "c.935C>T",
          "hgvs_p": "p.Thr312Ile",
          "transcript": "ENST00000871933.1",
          "protein_id": "ENSP00000541992.1",
          "transcript_support_level": null,
          "aa_start": 312,
          "aa_end": null,
          "aa_length": 634,
          "cds_start": 935,
          "cds_end": null,
          "cds_length": 1905,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000871933.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KLHL22",
          "gene_hgnc_id": 25888,
          "hgvs_c": "c.935C>T",
          "hgvs_p": "p.Thr312Ile",
          "transcript": "ENST00000871934.1",
          "protein_id": "ENSP00000541993.1",
          "transcript_support_level": null,
          "aa_start": 312,
          "aa_end": null,
          "aa_length": 634,
          "cds_start": 935,
          "cds_end": null,
          "cds_length": 1905,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000871934.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KLHL22",
          "gene_hgnc_id": 25888,
          "hgvs_c": "c.935C>T",
          "hgvs_p": "p.Thr312Ile",
          "transcript": "ENST00000871935.1",
          "protein_id": "ENSP00000541994.1",
          "transcript_support_level": null,
          "aa_start": 312,
          "aa_end": null,
          "aa_length": 634,
          "cds_start": 935,
          "cds_end": null,
          "cds_length": 1905,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000871935.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KLHL22",
          "gene_hgnc_id": 25888,
          "hgvs_c": "c.935C>T",
          "hgvs_p": "p.Thr312Ile",
          "transcript": "ENST00000871937.1",
          "protein_id": "ENSP00000541996.1",
          "transcript_support_level": null,
          "aa_start": 312,
          "aa_end": null,
          "aa_length": 634,
          "cds_start": 935,
          "cds_end": null,
          "cds_length": 1905,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000871937.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "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": "KLHL22",
          "gene_hgnc_id": 25888,
          "hgvs_c": "c.935C>T",
          "hgvs_p": "p.Thr312Ile",
          "transcript": "ENST00000871938.1",
          "protein_id": "ENSP00000541997.1",
          "transcript_support_level": null,
          "aa_start": 312,
          "aa_end": null,
          "aa_length": 634,
          "cds_start": 935,
          "cds_end": null,
          "cds_length": 1905,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000871938.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KLHL22",
          "gene_hgnc_id": 25888,
          "hgvs_c": "c.935C>T",
          "hgvs_p": "p.Thr312Ile",
          "transcript": "ENST00000871939.1",
          "protein_id": "ENSP00000541998.1",
          "transcript_support_level": null,
          "aa_start": 312,
          "aa_end": null,
          "aa_length": 634,
          "cds_start": 935,
          "cds_end": null,
          "cds_length": 1905,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000871939.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "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": "KLHL22",
          "gene_hgnc_id": 25888,
          "hgvs_c": "c.935C>T",
          "hgvs_p": "p.Thr312Ile",
          "transcript": "ENST00000871940.1",
          "protein_id": "ENSP00000541999.1",
          "transcript_support_level": null,
          "aa_start": 312,
          "aa_end": null,
          "aa_length": 634,
          "cds_start": 935,
          "cds_end": null,
          "cds_length": 1905,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000871940.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "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": "KLHL22",
          "gene_hgnc_id": 25888,
          "hgvs_c": "c.935C>T",
          "hgvs_p": "p.Thr312Ile",
          "transcript": "ENST00000912749.1",
          "protein_id": "ENSP00000582808.1",
          "transcript_support_level": null,
          "aa_start": 312,
          "aa_end": null,
          "aa_length": 634,
          "cds_start": 935,
          "cds_end": null,
          "cds_length": 1905,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000912749.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "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": "KLHL22",
          "gene_hgnc_id": 25888,
          "hgvs_c": "c.935C>T",
          "hgvs_p": "p.Thr312Ile",
          "transcript": "ENST00000912751.1",
          "protein_id": "ENSP00000582810.1",
          "transcript_support_level": null,
          "aa_start": 312,
          "aa_end": null,
          "aa_length": 634,
          "cds_start": 935,
          "cds_end": null,
          "cds_length": 1905,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000912751.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KLHL22",
          "gene_hgnc_id": 25888,
          "hgvs_c": "c.935C>T",
          "hgvs_p": "p.Thr312Ile",
          "transcript": "ENST00000957182.1",
          "protein_id": "ENSP00000627241.1",
          "transcript_support_level": null,
          "aa_start": 312,
          "aa_end": null,
          "aa_length": 634,
          "cds_start": 935,
          "cds_end": null,
          "cds_length": 1905,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000957182.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KLHL22",
          "gene_hgnc_id": 25888,
          "hgvs_c": "c.935C>T",
          "hgvs_p": "p.Thr312Ile",
          "transcript": "ENST00000957183.1",
          "protein_id": "ENSP00000627242.1",
          "transcript_support_level": null,
          "aa_start": 312,
          "aa_end": null,
          "aa_length": 634,
          "cds_start": 935,
          "cds_end": null,
          "cds_length": 1905,
          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KLHL22",
          "gene_hgnc_id": 25888,
          "hgvs_c": "c.935C>T",
          "hgvs_p": "p.Thr312Ile",
          "transcript": "ENST00000957184.1",
          "protein_id": "ENSP00000627243.1",
          "transcript_support_level": null,
          "aa_start": 312,
          "aa_end": null,
          "aa_length": 634,
          "cds_start": 935,
          "cds_end": null,
          "cds_length": 1905,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000957184.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "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": "KLHL22",
          "gene_hgnc_id": 25888,
          "hgvs_c": "c.935C>T",
          "hgvs_p": "p.Thr312Ile",
          "transcript": "ENST00000957185.1",
          "protein_id": "ENSP00000627244.1",
          "transcript_support_level": null,
          "aa_start": 312,
          "aa_end": null,
          "aa_length": 634,
          "cds_start": 935,
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          "cds_length": 1905,
          "cdna_start": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000957185.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KLHL22",
          "gene_hgnc_id": 25888,
          "hgvs_c": "c.935C>T",
          "hgvs_p": "p.Thr312Ile",
          "transcript": "ENST00000957186.1",
          "protein_id": "ENSP00000627245.1",
          "transcript_support_level": null,
          "aa_start": 312,
          "aa_end": null,
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          "cds_start": 935,
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          "biotype": "protein_coding",
          "feature": "ENST00000957186.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
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          "protein_coding": true,
          "strand": false,
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          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KLHL22",
          "gene_hgnc_id": 25888,
          "hgvs_c": "c.1079C>T",
          "hgvs_p": "p.Thr360Ile",
          "transcript": "XM_017029019.3",
          "protein_id": "XP_016884508.1",
          "transcript_support_level": null,
          "aa_start": 360,
          "aa_end": null,
          "aa_length": 682,
          "cds_start": 1079,
          "cds_end": null,
          "cds_length": 2049,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_017029019.3"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
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          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KLHL22",
          "gene_hgnc_id": 25888,
          "hgvs_c": "c.1031C>T",
          "hgvs_p": "p.Thr344Ile",
          "transcript": "XM_017029020.3",
          "protein_id": "XP_016884509.1",
          "transcript_support_level": null,
          "aa_start": 344,
          "aa_end": null,
          "aa_length": 666,
          "cds_start": 1031,
          "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": "XM_017029020.3"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "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": "KLHL22",
          "gene_hgnc_id": 25888,
          "hgvs_c": "c.935C>T",
          "hgvs_p": "p.Thr312Ile",
          "transcript": "XM_017029021.3",
          "protein_id": "XP_016884510.1",
          "transcript_support_level": null,
          "aa_start": 312,
          "aa_end": null,
          "aa_length": 634,
          "cds_start": 935,
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          "cds_length": 1905,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
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}