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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: 22-41249337-C-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=41249337&ref=C&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "22",
      "pos": 41249337,
      "ref": "C",
      "alt": "G",
      "effect": "missense_variant",
      "transcript": "NM_002883.4",
      "consequences": [
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RANGAP1",
          "gene_hgnc_id": 9854,
          "hgvs_c": "c.1687G>C",
          "hgvs_p": "p.Val563Leu",
          "transcript": "NM_002883.4",
          "protein_id": "NP_002874.1",
          "transcript_support_level": null,
          "aa_start": 563,
          "aa_end": null,
          "aa_length": 587,
          "cds_start": 1687,
          "cds_end": null,
          "cds_length": 1764,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000356244.8",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_002883.4"
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RANGAP1",
          "gene_hgnc_id": 9854,
          "hgvs_c": "c.1687G>C",
          "hgvs_p": "p.Val563Leu",
          "transcript": "ENST00000356244.8",
          "protein_id": "ENSP00000348577.3",
          "transcript_support_level": 1,
          "aa_start": 563,
          "aa_end": null,
          "aa_length": 587,
          "cds_start": 1687,
          "cds_end": null,
          "cds_length": 1764,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_002883.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000356244.8"
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RANGAP1",
          "gene_hgnc_id": 9854,
          "hgvs_c": "c.1687G>C",
          "hgvs_p": "p.Val563Leu",
          "transcript": "ENST00000405486.5",
          "protein_id": "ENSP00000385866.1",
          "transcript_support_level": 1,
          "aa_start": 563,
          "aa_end": null,
          "aa_length": 587,
          "cds_start": 1687,
          "cds_end": null,
          "cds_length": 1764,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000405486.5"
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RANGAP1",
          "gene_hgnc_id": 9854,
          "hgvs_c": "c.1687G>C",
          "hgvs_p": "p.Val563Leu",
          "transcript": "ENST00000455915.6",
          "protein_id": "ENSP00000401470.2",
          "transcript_support_level": 1,
          "aa_start": 563,
          "aa_end": null,
          "aa_length": 587,
          "cds_start": 1687,
          "cds_end": null,
          "cds_length": 1764,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000455915.6"
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RANGAP1",
          "gene_hgnc_id": 9854,
          "hgvs_c": "c.1789G>C",
          "hgvs_p": "p.Val597Leu",
          "transcript": "ENST00000932888.1",
          "protein_id": "ENSP00000602947.1",
          "transcript_support_level": null,
          "aa_start": 597,
          "aa_end": null,
          "aa_length": 621,
          "cds_start": 1789,
          "cds_end": null,
          "cds_length": 1866,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000932888.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RANGAP1",
          "gene_hgnc_id": 9854,
          "hgvs_c": "c.1756G>C",
          "hgvs_p": "p.Val586Leu",
          "transcript": "ENST00000898490.1",
          "protein_id": "ENSP00000568549.1",
          "transcript_support_level": null,
          "aa_start": 586,
          "aa_end": null,
          "aa_length": 610,
          "cds_start": 1756,
          "cds_end": null,
          "cds_length": 1833,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000898490.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RANGAP1",
          "gene_hgnc_id": 9854,
          "hgvs_c": "c.1714G>C",
          "hgvs_p": "p.Val572Leu",
          "transcript": "ENST00000962603.1",
          "protein_id": "ENSP00000632662.1",
          "transcript_support_level": null,
          "aa_start": 572,
          "aa_end": null,
          "aa_length": 596,
          "cds_start": 1714,
          "cds_end": null,
          "cds_length": 1791,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000962603.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RANGAP1",
          "gene_hgnc_id": 9854,
          "hgvs_c": "c.1690G>C",
          "hgvs_p": "p.Val564Leu",
          "transcript": "ENST00000898497.1",
          "protein_id": "ENSP00000568556.1",
          "transcript_support_level": null,
          "aa_start": 564,
          "aa_end": null,
          "aa_length": 588,
          "cds_start": 1690,
          "cds_end": null,
          "cds_length": 1767,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000898497.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RANGAP1",
          "gene_hgnc_id": 9854,
          "hgvs_c": "c.1690G>C",
          "hgvs_p": "p.Val564Leu",
          "transcript": "ENST00000932880.1",
          "protein_id": "ENSP00000602939.1",
          "transcript_support_level": null,
          "aa_start": 564,
          "aa_end": null,
          "aa_length": 588,
          "cds_start": 1690,
          "cds_end": null,
          "cds_length": 1767,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000932880.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RANGAP1",
          "gene_hgnc_id": 9854,
          "hgvs_c": "c.1690G>C",
          "hgvs_p": "p.Val564Leu",
          "transcript": "ENST00000932889.1",
          "protein_id": "ENSP00000602948.1",
          "transcript_support_level": null,
          "aa_start": 564,
          "aa_end": null,
          "aa_length": 588,
          "cds_start": 1690,
          "cds_end": null,
          "cds_length": 1767,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000932889.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RANGAP1",
          "gene_hgnc_id": 9854,
          "hgvs_c": "c.1690G>C",
          "hgvs_p": "p.Val564Leu",
          "transcript": "ENST00000962601.1",
          "protein_id": "ENSP00000632660.1",
          "transcript_support_level": null,
          "aa_start": 564,
          "aa_end": null,
          "aa_length": 588,
          "cds_start": 1690,
          "cds_end": null,
          "cds_length": 1767,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000962601.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RANGAP1",
          "gene_hgnc_id": 9854,
          "hgvs_c": "c.1687G>C",
          "hgvs_p": "p.Val563Leu",
          "transcript": "NM_001278651.2",
          "protein_id": "NP_001265580.1",
          "transcript_support_level": null,
          "aa_start": 563,
          "aa_end": null,
          "aa_length": 587,
          "cds_start": 1687,
          "cds_end": null,
          "cds_length": 1764,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "NM_001278651.2"
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RANGAP1",
          "gene_hgnc_id": 9854,
          "hgvs_c": "c.1687G>C",
          "hgvs_p": "p.Val563Leu",
          "transcript": "NM_001317930.2",
          "protein_id": "NP_001304859.1",
          "transcript_support_level": null,
          "aa_start": 563,
          "aa_end": null,
          "aa_length": 587,
          "cds_start": 1687,
          "cds_end": null,
          "cds_length": 1764,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001317930.2"
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RANGAP1",
          "gene_hgnc_id": 9854,
          "hgvs_c": "c.1687G>C",
          "hgvs_p": "p.Val563Leu",
          "transcript": "ENST00000705116.1",
          "protein_id": "ENSP00000516069.1",
          "transcript_support_level": null,
          "aa_start": 563,
          "aa_end": null,
          "aa_length": 587,
          "cds_start": 1687,
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          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000705116.1"
        },
        {
          "aa_ref": "V",
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          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
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          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RANGAP1",
          "gene_hgnc_id": 9854,
          "hgvs_c": "c.1687G>C",
          "hgvs_p": "p.Val563Leu",
          "transcript": "ENST00000898474.1",
          "protein_id": "ENSP00000568533.1",
          "transcript_support_level": null,
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          "aa_end": null,
          "aa_length": 587,
          "cds_start": 1687,
          "cds_end": null,
          "cds_length": 1764,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000898474.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RANGAP1",
          "gene_hgnc_id": 9854,
          "hgvs_c": "c.1687G>C",
          "hgvs_p": "p.Val563Leu",
          "transcript": "ENST00000898475.1",
          "protein_id": "ENSP00000568534.1",
          "transcript_support_level": null,
          "aa_start": 563,
          "aa_end": null,
          "aa_length": 587,
          "cds_start": 1687,
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          "biotype": "protein_coding",
          "feature": "ENST00000898475.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RANGAP1",
          "gene_hgnc_id": 9854,
          "hgvs_c": "c.1687G>C",
          "hgvs_p": "p.Val563Leu",
          "transcript": "ENST00000898476.1",
          "protein_id": "ENSP00000568535.1",
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        {
          "aa_ref": "V",
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          "protein_coding": true,
          "strand": false,
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          ],
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          "exon_count": 16,
          "intron_rank": null,
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          "gene_symbol": "RANGAP1",
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          "hgvs_c": "c.1687G>C",
          "hgvs_p": "p.Val563Leu",
          "transcript": "ENST00000898477.1",
          "protein_id": "ENSP00000568536.1",
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          "cds_start": 1687,
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          "cdna_start": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000898477.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RANGAP1",
          "gene_hgnc_id": 9854,
          "hgvs_c": "c.1687G>C",
          "hgvs_p": "p.Val563Leu",
          "transcript": "ENST00000898478.1",
          "protein_id": "ENSP00000568537.1",
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          "aa_end": null,
          "aa_length": 587,
          "cds_start": 1687,
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          "cds_length": 1764,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000898478.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RANGAP1",
          "gene_hgnc_id": 9854,
          "hgvs_c": "c.1687G>C",
          "hgvs_p": "p.Val563Leu",
          "transcript": "ENST00000898479.1",
          "protein_id": "ENSP00000568538.1",
          "transcript_support_level": null,
          "aa_start": 563,
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          "aa_length": 587,
          "cds_start": 1687,
          "cds_end": null,
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