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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: 3-15016159-C-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=15016159&ref=C&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "3",
      "pos": 15016159,
      "ref": "C",
      "alt": "A",
      "effect": "missense_variant",
      "transcript": "NM_003298.5",
      "consequences": [
        {
          "aa_ref": "T",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NR2C2",
          "gene_hgnc_id": 7972,
          "hgvs_c": "c.281C>A",
          "hgvs_p": "p.Thr94Lys",
          "transcript": "NM_001291694.2",
          "protein_id": "NP_001278623.1",
          "transcript_support_level": null,
          "aa_start": 94,
          "aa_end": null,
          "aa_length": 596,
          "cds_start": 281,
          "cds_end": null,
          "cds_length": 1791,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000425241.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001291694.2"
        },
        {
          "aa_ref": "T",
          "aa_alt": "K",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NR2C2",
          "gene_hgnc_id": 7972,
          "hgvs_c": "c.281C>A",
          "hgvs_p": "p.Thr94Lys",
          "transcript": "ENST00000425241.6",
          "protein_id": "ENSP00000388387.1",
          "transcript_support_level": 2,
          "aa_start": 94,
          "aa_end": null,
          "aa_length": 596,
          "cds_start": 281,
          "cds_end": null,
          "cds_length": 1791,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001291694.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000425241.6"
        },
        {
          "aa_ref": "T",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NR2C2",
          "gene_hgnc_id": 7972,
          "hgvs_c": "c.338C>A",
          "hgvs_p": "p.Thr113Lys",
          "transcript": "ENST00000323373.10",
          "protein_id": "ENSP00000320447.6",
          "transcript_support_level": 1,
          "aa_start": 113,
          "aa_end": null,
          "aa_length": 615,
          "cds_start": 338,
          "cds_end": null,
          "cds_length": 1848,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000323373.10"
        },
        {
          "aa_ref": "T",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NR2C2",
          "gene_hgnc_id": 7972,
          "hgvs_c": "c.338C>A",
          "hgvs_p": "p.Thr113Lys",
          "transcript": "NM_003298.5",
          "protein_id": "NP_003289.2",
          "transcript_support_level": null,
          "aa_start": 113,
          "aa_end": null,
          "aa_length": 615,
          "cds_start": 338,
          "cds_end": null,
          "cds_length": 1848,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_003298.5"
        },
        {
          "aa_ref": "T",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NR2C2",
          "gene_hgnc_id": 7972,
          "hgvs_c": "c.338C>A",
          "hgvs_p": "p.Thr113Lys",
          "transcript": "ENST00000859246.1",
          "protein_id": "ENSP00000529305.1",
          "transcript_support_level": null,
          "aa_start": 113,
          "aa_end": null,
          "aa_length": 615,
          "cds_start": 338,
          "cds_end": null,
          "cds_length": 1848,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000859246.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NR2C2",
          "gene_hgnc_id": 7972,
          "hgvs_c": "c.338C>A",
          "hgvs_p": "p.Thr113Lys",
          "transcript": "ENST00000859250.1",
          "protein_id": "ENSP00000529309.1",
          "transcript_support_level": null,
          "aa_start": 113,
          "aa_end": null,
          "aa_length": 615,
          "cds_start": 338,
          "cds_end": null,
          "cds_length": 1848,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000859250.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NR2C2",
          "gene_hgnc_id": 7972,
          "hgvs_c": "c.338C>A",
          "hgvs_p": "p.Thr113Lys",
          "transcript": "ENST00000859253.1",
          "protein_id": "ENSP00000529312.1",
          "transcript_support_level": null,
          "aa_start": 113,
          "aa_end": null,
          "aa_length": 615,
          "cds_start": 338,
          "cds_end": null,
          "cds_length": 1848,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000859253.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NR2C2",
          "gene_hgnc_id": 7972,
          "hgvs_c": "c.338C>A",
          "hgvs_p": "p.Thr113Lys",
          "transcript": "ENST00000911529.1",
          "protein_id": "ENSP00000581588.1",
          "transcript_support_level": null,
          "aa_start": 113,
          "aa_end": null,
          "aa_length": 615,
          "cds_start": 338,
          "cds_end": null,
          "cds_length": 1848,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000911529.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NR2C2",
          "gene_hgnc_id": 7972,
          "hgvs_c": "c.338C>A",
          "hgvs_p": "p.Thr113Lys",
          "transcript": "ENST00000968198.1",
          "protein_id": "ENSP00000638257.1",
          "transcript_support_level": null,
          "aa_start": 113,
          "aa_end": null,
          "aa_length": 615,
          "cds_start": 338,
          "cds_end": null,
          "cds_length": 1848,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000968198.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NR2C2",
          "gene_hgnc_id": 7972,
          "hgvs_c": "c.338C>A",
          "hgvs_p": "p.Thr113Lys",
          "transcript": "ENST00000968199.1",
          "protein_id": "ENSP00000638258.1",
          "transcript_support_level": null,
          "aa_start": 113,
          "aa_end": null,
          "aa_length": 615,
          "cds_start": 338,
          "cds_end": null,
          "cds_length": 1848,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000968199.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NR2C2",
          "gene_hgnc_id": 7972,
          "hgvs_c": "c.281C>A",
          "hgvs_p": "p.Thr94Lys",
          "transcript": "ENST00000393102.7",
          "protein_id": "ENSP00000376814.3",
          "transcript_support_level": 5,
          "aa_start": 94,
          "aa_end": null,
          "aa_length": 596,
          "cds_start": 281,
          "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": "ENST00000393102.7"
        },
        {
          "aa_ref": "T",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NR2C2",
          "gene_hgnc_id": 7972,
          "hgvs_c": "c.281C>A",
          "hgvs_p": "p.Thr94Lys",
          "transcript": "ENST00000859248.1",
          "protein_id": "ENSP00000529307.1",
          "transcript_support_level": null,
          "aa_start": 94,
          "aa_end": null,
          "aa_length": 596,
          "cds_start": 281,
          "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": "ENST00000859248.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NR2C2",
          "gene_hgnc_id": 7972,
          "hgvs_c": "c.281C>A",
          "hgvs_p": "p.Thr94Lys",
          "transcript": "ENST00000859249.1",
          "protein_id": "ENSP00000529308.1",
          "transcript_support_level": null,
          "aa_start": 94,
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          "aa_length": 596,
          "cds_start": 281,
          "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": "ENST00000859249.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NR2C2",
          "gene_hgnc_id": 7972,
          "hgvs_c": "c.281C>A",
          "hgvs_p": "p.Thr94Lys",
          "transcript": "ENST00000859251.1",
          "protein_id": "ENSP00000529310.1",
          "transcript_support_level": null,
          "aa_start": 94,
          "aa_end": null,
          "aa_length": 596,
          "cds_start": 281,
          "cds_end": null,
          "cds_length": 1791,
          "cdna_start": null,
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          "cdna_length": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000859251.1"
        },
        {
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          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 5,
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          "exon_count": 15,
          "intron_rank": null,
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          "gene_symbol": "NR2C2",
          "gene_hgnc_id": 7972,
          "hgvs_c": "c.281C>A",
          "hgvs_p": "p.Thr94Lys",
          "transcript": "ENST00000859252.1",
          "protein_id": "ENSP00000529311.1",
          "transcript_support_level": null,
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          "aa_end": null,
          "aa_length": 596,
          "cds_start": 281,
          "cds_end": null,
          "cds_length": 1791,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000859252.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NR2C2",
          "gene_hgnc_id": 7972,
          "hgvs_c": "c.281C>A",
          "hgvs_p": "p.Thr94Lys",
          "transcript": "ENST00000968197.1",
          "protein_id": "ENSP00000638256.1",
          "transcript_support_level": null,
          "aa_start": 94,
          "aa_end": null,
          "aa_length": 596,
          "cds_start": 281,
          "cds_end": null,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000968197.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NR2C2",
          "gene_hgnc_id": 7972,
          "hgvs_c": "c.281C>A",
          "hgvs_p": "p.Thr94Lys",
          "transcript": "ENST00000968201.1",
          "protein_id": "ENSP00000638260.1",
          "transcript_support_level": null,
          "aa_start": 94,
          "aa_end": null,
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          "cdna_start": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000968201.1"
        },
        {
          "aa_ref": "T",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
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          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NR2C2",
          "gene_hgnc_id": 7972,
          "hgvs_c": "c.137C>A",
          "hgvs_p": "p.Thr46Lys",
          "transcript": "ENST00000859247.1",
          "protein_id": "ENSP00000529306.1",
          "transcript_support_level": null,
          "aa_start": 46,
          "aa_end": null,
          "aa_length": 548,
          "cds_start": 137,
          "cds_end": null,
          "cds_length": 1647,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "T",
          "aa_alt": "K",
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          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NR2C2",
          "gene_hgnc_id": 7972,
          "hgvs_c": "c.80C>A",
          "hgvs_p": "p.Thr27Lys",
          "transcript": "ENST00000968200.1",
          "protein_id": "ENSP00000638259.1",
          "transcript_support_level": null,
          "aa_start": 27,
          "aa_end": null,
          "aa_length": 529,
          "cds_start": 80,
          "cds_end": null,
          "cds_length": 1590,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000968200.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NR2C2",
          "gene_hgnc_id": 7972,
          "hgvs_c": "c.338C>A",
          "hgvs_p": "p.Thr113Lys",
          "transcript": "ENST00000437120.5",
          "protein_id": "ENSP00000401807.1",
          "transcript_support_level": 3,
          "aa_start": 113,
          "aa_end": null,
          "aa_length": 204,
          "cds_start": 338,
          "cds_end": null,
          "cds_length": 616,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
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      "phylop100way_prediction": "Uncertain_significance",
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      "acmg_score": 2,
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      "acmg_by_gene": [
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          "score": 2,
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          ],
          "verdict": "Uncertain_significance",
          "transcript": "NM_003298.5",
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        {
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          "verdict": "Uncertain_significance",
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          "inheritance_mode": "AR,Unknown",
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      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}