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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: 6-39901450-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=39901450&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "6",
      "pos": 39901450,
      "ref": "G",
      "alt": "A",
      "effect": "missense_variant",
      "transcript": "NM_001201427.2",
      "consequences": [
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 24,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DAAM2",
          "gene_hgnc_id": 18143,
          "hgvs_c": "c.2960G>A",
          "hgvs_p": "p.Arg987Gln",
          "transcript": "NM_001201427.2",
          "protein_id": "NP_001188356.1",
          "transcript_support_level": null,
          "aa_start": 987,
          "aa_end": null,
          "aa_length": 1068,
          "cds_start": 2960,
          "cds_end": null,
          "cds_length": 3207,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000274867.9",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001201427.2"
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 24,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DAAM2",
          "gene_hgnc_id": 18143,
          "hgvs_c": "c.2960G>A",
          "hgvs_p": "p.Arg987Gln",
          "transcript": "ENST00000274867.9",
          "protein_id": "ENSP00000274867.4",
          "transcript_support_level": 1,
          "aa_start": 987,
          "aa_end": null,
          "aa_length": 1068,
          "cds_start": 2960,
          "cds_end": null,
          "cds_length": 3207,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001201427.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000274867.9"
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 24,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DAAM2",
          "gene_hgnc_id": 18143,
          "hgvs_c": "c.2957G>A",
          "hgvs_p": "p.Arg986Gln",
          "transcript": "ENST00000538976.5",
          "protein_id": "ENSP00000437808.1",
          "transcript_support_level": 1,
          "aa_start": 986,
          "aa_end": null,
          "aa_length": 1067,
          "cds_start": 2957,
          "cds_end": null,
          "cds_length": 3204,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000538976.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DAAM2",
          "gene_hgnc_id": 18143,
          "hgvs_c": "n.3655G>A",
          "hgvs_p": null,
          "transcript": "ENST00000631498.1",
          "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": "ENST00000631498.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "MOCS1",
          "gene_hgnc_id": 7190,
          "hgvs_c": "n.*116-1575C>T",
          "hgvs_p": null,
          "transcript": "ENST00000373181.8",
          "protein_id": "ENSP00000362277.4",
          "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": "nonsense_mediated_decay",
          "feature": "ENST00000373181.8"
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DAAM2",
          "gene_hgnc_id": 18143,
          "hgvs_c": "c.2987G>A",
          "hgvs_p": "p.Arg996Gln",
          "transcript": "ENST00000633794.1",
          "protein_id": "ENSP00000488831.1",
          "transcript_support_level": 5,
          "aa_start": 996,
          "aa_end": null,
          "aa_length": 1077,
          "cds_start": 2987,
          "cds_end": null,
          "cds_length": 3234,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000633794.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DAAM2",
          "gene_hgnc_id": 18143,
          "hgvs_c": "c.2987G>A",
          "hgvs_p": "p.Arg996Gln",
          "transcript": "ENST00000853742.1",
          "protein_id": "ENSP00000523801.1",
          "transcript_support_level": null,
          "aa_start": 996,
          "aa_end": null,
          "aa_length": 1077,
          "cds_start": 2987,
          "cds_end": null,
          "cds_length": 3234,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000853742.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DAAM2",
          "gene_hgnc_id": 18143,
          "hgvs_c": "c.2987G>A",
          "hgvs_p": "p.Arg996Gln",
          "transcript": "ENST00000853743.1",
          "protein_id": "ENSP00000523802.1",
          "transcript_support_level": null,
          "aa_start": 996,
          "aa_end": null,
          "aa_length": 1077,
          "cds_start": 2987,
          "cds_end": null,
          "cds_length": 3234,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000853743.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DAAM2",
          "gene_hgnc_id": 18143,
          "hgvs_c": "c.2987G>A",
          "hgvs_p": "p.Arg996Gln",
          "transcript": "ENST00000853744.1",
          "protein_id": "ENSP00000523803.1",
          "transcript_support_level": null,
          "aa_start": 996,
          "aa_end": null,
          "aa_length": 1077,
          "cds_start": 2987,
          "cds_end": null,
          "cds_length": 3234,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000853744.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DAAM2",
          "gene_hgnc_id": 18143,
          "hgvs_c": "c.2981G>A",
          "hgvs_p": "p.Arg994Gln",
          "transcript": "ENST00000853741.1",
          "protein_id": "ENSP00000523800.1",
          "transcript_support_level": null,
          "aa_start": 994,
          "aa_end": null,
          "aa_length": 1075,
          "cds_start": 2981,
          "cds_end": null,
          "cds_length": 3228,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000853741.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 24,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DAAM2",
          "gene_hgnc_id": 18143,
          "hgvs_c": "c.2960G>A",
          "hgvs_p": "p.Arg987Gln",
          "transcript": "ENST00000398904.6",
          "protein_id": "ENSP00000381876.2",
          "transcript_support_level": 5,
          "aa_start": 987,
          "aa_end": null,
          "aa_length": 1068,
          "cds_start": 2960,
          "cds_end": null,
          "cds_length": 3207,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000398904.6"
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DAAM2",
          "gene_hgnc_id": 18143,
          "hgvs_c": "c.2960G>A",
          "hgvs_p": "p.Arg987Gln",
          "transcript": "ENST00000853736.1",
          "protein_id": "ENSP00000523795.1",
          "transcript_support_level": null,
          "aa_start": 987,
          "aa_end": null,
          "aa_length": 1068,
          "cds_start": 2960,
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          "cds_length": 3207,
          "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": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
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          "gene_symbol": "DAAM2",
          "gene_hgnc_id": 18143,
          "hgvs_c": "c.2960G>A",
          "hgvs_p": "p.Arg987Gln",
          "transcript": "ENST00000853745.1",
          "protein_id": "ENSP00000523804.1",
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          "aa_start": 987,
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          "cds_start": 2960,
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          "cdna_start": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000853745.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 24,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DAAM2",
          "gene_hgnc_id": 18143,
          "hgvs_c": "c.2960G>A",
          "hgvs_p": "p.Arg987Gln",
          "transcript": "ENST00000924855.1",
          "protein_id": "ENSP00000594914.1",
          "transcript_support_level": null,
          "aa_start": 987,
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          "aa_length": 1068,
          "cds_start": 2960,
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        },
        {
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          "intron_rank": null,
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          "gene_symbol": "DAAM2",
          "gene_hgnc_id": 18143,
          "hgvs_c": "c.2960G>A",
          "hgvs_p": "p.Arg987Gln",
          "transcript": "ENST00000961720.1",
          "protein_id": "ENSP00000631779.1",
          "transcript_support_level": null,
          "aa_start": 987,
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          "cds_start": 2960,
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          "cdna_start": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000961720.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 24,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DAAM2",
          "gene_hgnc_id": 18143,
          "hgvs_c": "c.2957G>A",
          "hgvs_p": "p.Arg986Gln",
          "transcript": "NM_015345.4",
          "protein_id": "NP_056160.2",
          "transcript_support_level": null,
          "aa_start": 986,
          "aa_end": null,
          "aa_length": 1067,
          "cds_start": 2957,
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          "biotype": "protein_coding",
          "feature": "NM_015345.4"
        },
        {
          "aa_ref": "R",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 24,
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          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DAAM2",
          "gene_hgnc_id": 18143,
          "hgvs_c": "c.2954G>A",
          "hgvs_p": "p.Arg985Gln",
          "transcript": "ENST00000853740.1",
          "protein_id": "ENSP00000523799.1",
          "transcript_support_level": null,
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          "cds_start": 2954,
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        {
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          ],
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          "gene_symbol": "DAAM2",
          "gene_hgnc_id": 18143,
          "hgvs_c": "c.2879G>A",
          "hgvs_p": "p.Arg960Gln",
          "transcript": "ENST00000853739.1",
          "protein_id": "ENSP00000523798.1",
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          "aa_start": 960,
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          "biotype": "protein_coding",
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        {
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          "strand": true,
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          ],
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          "exon_count": 25,
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          "gene_symbol": "DAAM2",
          "gene_hgnc_id": 18143,
          "hgvs_c": "c.2873G>A",
          "hgvs_p": "p.Arg958Gln",
          "transcript": "ENST00000853737.1",
          "protein_id": "ENSP00000523796.1",
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          "cds_start": 2873,
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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": "ENST00000853737.1"
        },
        {
          "aa_ref": "R",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DAAM2",
          "gene_hgnc_id": 18143,
          "hgvs_c": "c.2852G>A",
          "hgvs_p": "p.Arg951Gln",
          "transcript": "ENST00000853738.1",
          "protein_id": "ENSP00000523797.1",
          "transcript_support_level": null,
          "aa_start": 951,
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          "aa_length": 1032,
          "cds_start": 2852,
          "cds_end": null,
          "cds_length": 3099,
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      "acmg_criteria": "PM2,BP4",
      "acmg_by_gene": [
        {
          "score": 1,
          "benign_score": 1,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "NM_001201427.2",
          "gene_symbol": "DAAM2",
          "hgnc_id": 18143,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.2960G>A",
          "hgvs_p": "p.Arg987Gln"
        },
        {
          "score": 1,
          "benign_score": 1,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "ENST00000373181.8",
          "gene_symbol": "MOCS1",
          "hgnc_id": 7190,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "n.*116-1575C>T",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "Inborn genetic diseases",
      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "US:1",
      "phenotype_combined": "Inborn genetic diseases",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
    }
  ],
  "message": null
}