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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: 3-47588231-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=47588231&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "3",
      "pos": 47588231,
      "ref": "G",
      "alt": "A",
      "effect": "missense_variant",
      "transcript": "NM_003074.4",
      "consequences": [
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SMARCC1",
          "gene_hgnc_id": 11104,
          "hgvs_c": "c.3296C>T",
          "hgvs_p": "p.Pro1099Leu",
          "transcript": "NM_003074.4",
          "protein_id": "NP_003065.3",
          "transcript_support_level": null,
          "aa_start": 1099,
          "aa_end": null,
          "aa_length": 1105,
          "cds_start": 3296,
          "cds_end": null,
          "cds_length": 3318,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000254480.10",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_003074.4"
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SMARCC1",
          "gene_hgnc_id": 11104,
          "hgvs_c": "c.3296C>T",
          "hgvs_p": "p.Pro1099Leu",
          "transcript": "ENST00000254480.10",
          "protein_id": "ENSP00000254480.5",
          "transcript_support_level": 1,
          "aa_start": 1099,
          "aa_end": null,
          "aa_length": 1105,
          "cds_start": 3296,
          "cds_end": null,
          "cds_length": 3318,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_003074.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000254480.10"
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 29,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SMARCC1",
          "gene_hgnc_id": 11104,
          "hgvs_c": "c.3428C>T",
          "hgvs_p": "p.Pro1143Leu",
          "transcript": "ENST00000938791.1",
          "protein_id": "ENSP00000608850.1",
          "transcript_support_level": null,
          "aa_start": 1143,
          "aa_end": null,
          "aa_length": 1149,
          "cds_start": 3428,
          "cds_end": null,
          "cds_length": 3450,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000938791.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 29,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SMARCC1",
          "gene_hgnc_id": 11104,
          "hgvs_c": "c.3389C>T",
          "hgvs_p": "p.Pro1130Leu",
          "transcript": "ENST00000855763.1",
          "protein_id": "ENSP00000525822.1",
          "transcript_support_level": null,
          "aa_start": 1130,
          "aa_end": null,
          "aa_length": 1136,
          "cds_start": 3389,
          "cds_end": null,
          "cds_length": 3411,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000855763.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 29,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SMARCC1",
          "gene_hgnc_id": 11104,
          "hgvs_c": "c.3389C>T",
          "hgvs_p": "p.Pro1130Leu",
          "transcript": "ENST00000938807.1",
          "protein_id": "ENSP00000608866.1",
          "transcript_support_level": null,
          "aa_start": 1130,
          "aa_end": null,
          "aa_length": 1136,
          "cds_start": 3389,
          "cds_end": null,
          "cds_length": 3411,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000938807.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 29,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SMARCC1",
          "gene_hgnc_id": 11104,
          "hgvs_c": "c.3386C>T",
          "hgvs_p": "p.Pro1129Leu",
          "transcript": "ENST00000938787.1",
          "protein_id": "ENSP00000608846.1",
          "transcript_support_level": null,
          "aa_start": 1129,
          "aa_end": null,
          "aa_length": 1135,
          "cds_start": 3386,
          "cds_end": null,
          "cds_length": 3408,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000938787.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SMARCC1",
          "gene_hgnc_id": 11104,
          "hgvs_c": "c.3326C>T",
          "hgvs_p": "p.Pro1109Leu",
          "transcript": "ENST00000938802.1",
          "protein_id": "ENSP00000608861.1",
          "transcript_support_level": null,
          "aa_start": 1109,
          "aa_end": null,
          "aa_length": 1115,
          "cds_start": 3326,
          "cds_end": null,
          "cds_length": 3348,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000938802.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SMARCC1",
          "gene_hgnc_id": 11104,
          "hgvs_c": "c.3293C>T",
          "hgvs_p": "p.Pro1098Leu",
          "transcript": "ENST00000855762.1",
          "protein_id": "ENSP00000525821.1",
          "transcript_support_level": null,
          "aa_start": 1098,
          "aa_end": null,
          "aa_length": 1104,
          "cds_start": 3293,
          "cds_end": null,
          "cds_length": 3315,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000855762.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SMARCC1",
          "gene_hgnc_id": 11104,
          "hgvs_c": "c.3293C>T",
          "hgvs_p": "p.Pro1098Leu",
          "transcript": "ENST00000855764.1",
          "protein_id": "ENSP00000525823.1",
          "transcript_support_level": null,
          "aa_start": 1098,
          "aa_end": null,
          "aa_length": 1104,
          "cds_start": 3293,
          "cds_end": null,
          "cds_length": 3315,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000855764.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SMARCC1",
          "gene_hgnc_id": 11104,
          "hgvs_c": "c.3293C>T",
          "hgvs_p": "p.Pro1098Leu",
          "transcript": "ENST00000938799.1",
          "protein_id": "ENSP00000608858.1",
          "transcript_support_level": null,
          "aa_start": 1098,
          "aa_end": null,
          "aa_length": 1104,
          "cds_start": 3293,
          "cds_end": null,
          "cds_length": 3315,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000938799.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SMARCC1",
          "gene_hgnc_id": 11104,
          "hgvs_c": "c.3290C>T",
          "hgvs_p": "p.Pro1097Leu",
          "transcript": "ENST00000938801.1",
          "protein_id": "ENSP00000608860.1",
          "transcript_support_level": null,
          "aa_start": 1097,
          "aa_end": null,
          "aa_length": 1103,
          "cds_start": 3290,
          "cds_end": null,
          "cds_length": 3312,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000938801.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SMARCC1",
          "gene_hgnc_id": 11104,
          "hgvs_c": "c.3290C>T",
          "hgvs_p": "p.Pro1097Leu",
          "transcript": "ENST00000938805.1",
          "protein_id": "ENSP00000608864.1",
          "transcript_support_level": null,
          "aa_start": 1097,
          "aa_end": null,
          "aa_length": 1103,
          "cds_start": 3290,
          "cds_end": null,
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          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000938805.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SMARCC1",
          "gene_hgnc_id": 11104,
          "hgvs_c": "c.3287C>T",
          "hgvs_p": "p.Pro1096Leu",
          "transcript": "ENST00000938793.1",
          "protein_id": "ENSP00000608852.1",
          "transcript_support_level": null,
          "aa_start": 1096,
          "aa_end": null,
          "aa_length": 1102,
          "cds_start": 3287,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000938793.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SMARCC1",
          "gene_hgnc_id": 11104,
          "hgvs_c": "c.3278C>T",
          "hgvs_p": "p.Pro1093Leu",
          "transcript": "ENST00000938790.1",
          "protein_id": "ENSP00000608849.1",
          "transcript_support_level": null,
          "aa_start": 1093,
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          "cds_start": 3278,
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        },
        {
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
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          "gene_symbol": "SMARCC1",
          "gene_hgnc_id": 11104,
          "hgvs_c": "c.3269C>T",
          "hgvs_p": "p.Pro1090Leu",
          "transcript": "ENST00000938789.1",
          "protein_id": "ENSP00000608848.1",
          "transcript_support_level": null,
          "aa_start": 1090,
          "aa_end": null,
          "aa_length": 1096,
          "cds_start": 3269,
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          "cds_length": 3291,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000938789.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SMARCC1",
          "gene_hgnc_id": 11104,
          "hgvs_c": "c.3236C>T",
          "hgvs_p": "p.Pro1079Leu",
          "transcript": "ENST00000855770.1",
          "protein_id": "ENSP00000525829.1",
          "transcript_support_level": null,
          "aa_start": 1079,
          "aa_end": null,
          "aa_length": 1085,
          "cds_start": 3236,
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          "cdna_start": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000855770.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SMARCC1",
          "gene_hgnc_id": 11104,
          "hgvs_c": "c.3212C>T",
          "hgvs_p": "p.Pro1071Leu",
          "transcript": "ENST00000938792.1",
          "protein_id": "ENSP00000608851.1",
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        },
        {
          "aa_ref": "P",
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          ],
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          "exon_count": 27,
          "intron_rank": null,
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          "gene_symbol": "SMARCC1",
          "gene_hgnc_id": 11104,
          "hgvs_c": "c.3182C>T",
          "hgvs_p": "p.Pro1061Leu",
          "transcript": "ENST00000855765.1",
          "protein_id": "ENSP00000525824.1",
          "transcript_support_level": null,
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        },
        {
          "aa_ref": "P",
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          "protein_coding": true,
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          "exon_count": 27,
          "intron_rank": null,
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          "gene_symbol": "SMARCC1",
          "gene_hgnc_id": 11104,
          "hgvs_c": "c.3182C>T",
          "hgvs_p": "p.Pro1061Leu",
          "transcript": "ENST00000938803.1",
          "protein_id": "ENSP00000608862.1",
          "transcript_support_level": null,
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          "aa_length": 1067,
          "cds_start": 3182,
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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": "ENST00000938803.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SMARCC1",
          "gene_hgnc_id": 11104,
          "hgvs_c": "c.3179C>T",
          "hgvs_p": "p.Pro1060Leu",
          "transcript": "ENST00000938795.1",
          "protein_id": "ENSP00000608854.1",
          "transcript_support_level": null,
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}
For research and educational, non-commercial use only. Not for clinical or diagnostic use. GeneBe does not provide medical advice. Data use for AI modeling is prohibited: if used, the cost is $0.001 per byte of downloaded uncompressed data.