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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: 3-49124530-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=49124530&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "3",
      "pos": 49124530,
      "ref": "C",
      "alt": "T",
      "effect": "synonymous_variant",
      "transcript": "NM_002292.4",
      "consequences": [
        {
          "aa_ref": "Q",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LAMB2",
          "gene_hgnc_id": 6487,
          "hgvs_c": "c.3192G>A",
          "hgvs_p": "p.Gln1064Gln",
          "transcript": "NM_002292.4",
          "protein_id": "NP_002283.3",
          "transcript_support_level": null,
          "aa_start": 1064,
          "aa_end": null,
          "aa_length": 1798,
          "cds_start": 3192,
          "cds_end": null,
          "cds_length": 5397,
          "cdna_start": 3375,
          "cdna_end": null,
          "cdna_length": 5692,
          "mane_select": "ENST00000305544.9",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_002292.4"
        },
        {
          "aa_ref": "Q",
          "aa_alt": "Q",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LAMB2",
          "gene_hgnc_id": 6487,
          "hgvs_c": "c.3192G>A",
          "hgvs_p": "p.Gln1064Gln",
          "transcript": "ENST00000305544.9",
          "protein_id": "ENSP00000307156.4",
          "transcript_support_level": 1,
          "aa_start": 1064,
          "aa_end": null,
          "aa_length": 1798,
          "cds_start": 3192,
          "cds_end": null,
          "cds_length": 5397,
          "cdna_start": 3375,
          "cdna_end": null,
          "cdna_length": 5692,
          "mane_select": "NM_002292.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000305544.9"
        },
        {
          "aa_ref": "Q",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LAMB2",
          "gene_hgnc_id": 6487,
          "hgvs_c": "c.3192G>A",
          "hgvs_p": "p.Gln1064Gln",
          "transcript": "ENST00000418109.5",
          "protein_id": "ENSP00000388325.1",
          "transcript_support_level": 1,
          "aa_start": 1064,
          "aa_end": null,
          "aa_length": 1798,
          "cds_start": 3192,
          "cds_end": null,
          "cds_length": 5397,
          "cdna_start": 3357,
          "cdna_end": null,
          "cdna_length": 5674,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000418109.5"
        },
        {
          "aa_ref": "Q",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LAMB2",
          "gene_hgnc_id": 6487,
          "hgvs_c": "c.3234G>A",
          "hgvs_p": "p.Gln1078Gln",
          "transcript": "ENST00000960189.1",
          "protein_id": "ENSP00000630248.1",
          "transcript_support_level": null,
          "aa_start": 1078,
          "aa_end": null,
          "aa_length": 1812,
          "cds_start": 3234,
          "cds_end": null,
          "cds_length": 5439,
          "cdna_start": 3410,
          "cdna_end": null,
          "cdna_length": 5728,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000960189.1"
        },
        {
          "aa_ref": "Q",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LAMB2",
          "gene_hgnc_id": 6487,
          "hgvs_c": "c.3234G>A",
          "hgvs_p": "p.Gln1078Gln",
          "transcript": "ENST00000960202.1",
          "protein_id": "ENSP00000630261.1",
          "transcript_support_level": null,
          "aa_start": 1078,
          "aa_end": null,
          "aa_length": 1812,
          "cds_start": 3234,
          "cds_end": null,
          "cds_length": 5439,
          "cdna_start": 3369,
          "cdna_end": null,
          "cdna_length": 5683,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000960202.1"
        },
        {
          "aa_ref": "Q",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LAMB2",
          "gene_hgnc_id": 6487,
          "hgvs_c": "c.3192G>A",
          "hgvs_p": "p.Gln1064Gln",
          "transcript": "ENST00000960193.1",
          "protein_id": "ENSP00000630252.1",
          "transcript_support_level": null,
          "aa_start": 1064,
          "aa_end": null,
          "aa_length": 1807,
          "cds_start": 3192,
          "cds_end": null,
          "cds_length": 5424,
          "cdna_start": 3350,
          "cdna_end": null,
          "cdna_length": 5694,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000960193.1"
        },
        {
          "aa_ref": "Q",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LAMB2",
          "gene_hgnc_id": 6487,
          "hgvs_c": "c.3204G>A",
          "hgvs_p": "p.Gln1068Gln",
          "transcript": "ENST00000884814.1",
          "protein_id": "ENSP00000554873.1",
          "transcript_support_level": null,
          "aa_start": 1068,
          "aa_end": null,
          "aa_length": 1802,
          "cds_start": 3204,
          "cds_end": null,
          "cds_length": 5409,
          "cdna_start": 3367,
          "cdna_end": null,
          "cdna_length": 5684,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000884814.1"
        },
        {
          "aa_ref": "Q",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LAMB2",
          "gene_hgnc_id": 6487,
          "hgvs_c": "c.3204G>A",
          "hgvs_p": "p.Gln1068Gln",
          "transcript": "ENST00000960192.1",
          "protein_id": "ENSP00000630251.1",
          "transcript_support_level": null,
          "aa_start": 1068,
          "aa_end": null,
          "aa_length": 1800,
          "cds_start": 3204,
          "cds_end": null,
          "cds_length": 5403,
          "cdna_start": 3365,
          "cdna_end": null,
          "cdna_length": 5675,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000960192.1"
        },
        {
          "aa_ref": "Q",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LAMB2",
          "gene_hgnc_id": 6487,
          "hgvs_c": "c.3192G>A",
          "hgvs_p": "p.Gln1064Gln",
          "transcript": "ENST00000960197.1",
          "protein_id": "ENSP00000630256.1",
          "transcript_support_level": null,
          "aa_start": 1064,
          "aa_end": null,
          "aa_length": 1797,
          "cds_start": 3192,
          "cds_end": null,
          "cds_length": 5394,
          "cdna_start": 3347,
          "cdna_end": null,
          "cdna_length": 5661,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000960197.1"
        },
        {
          "aa_ref": "Q",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LAMB2",
          "gene_hgnc_id": 6487,
          "hgvs_c": "c.3192G>A",
          "hgvs_p": "p.Gln1064Gln",
          "transcript": "ENST00000884810.1",
          "protein_id": "ENSP00000554869.1",
          "transcript_support_level": null,
          "aa_start": 1064,
          "aa_end": null,
          "aa_length": 1796,
          "cds_start": 3192,
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          "cdna_start": 3381,
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          "cdna_length": 5693,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000884810.1"
        },
        {
          "aa_ref": "Q",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LAMB2",
          "gene_hgnc_id": 6487,
          "hgvs_c": "c.3183G>A",
          "hgvs_p": "p.Gln1061Gln",
          "transcript": "ENST00000921218.1",
          "protein_id": "ENSP00000591277.1",
          "transcript_support_level": null,
          "aa_start": 1061,
          "aa_end": null,
          "aa_length": 1795,
          "cds_start": 3183,
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          "cdna_start": 3365,
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          "cdna_length": 5682,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000921218.1"
        },
        {
          "aa_ref": "Q",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LAMB2",
          "gene_hgnc_id": 6487,
          "hgvs_c": "c.3183G>A",
          "hgvs_p": "p.Gln1061Gln",
          "transcript": "ENST00000960188.1",
          "protein_id": "ENSP00000630247.1",
          "transcript_support_level": null,
          "aa_start": 1061,
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          "aa_length": 1795,
          "cds_start": 3183,
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          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "Q",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
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          "gene_symbol": "LAMB2",
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          "hgvs_c": "c.3192G>A",
          "hgvs_p": "p.Gln1064Gln",
          "transcript": "ENST00000960187.1",
          "protein_id": "ENSP00000630246.1",
          "transcript_support_level": null,
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          "aa_end": null,
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          "cdna_start": 3374,
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          "cdna_length": 5670,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000960187.1"
        },
        {
          "aa_ref": "Q",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
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          "gene_symbol": "LAMB2",
          "gene_hgnc_id": 6487,
          "hgvs_c": "c.3126G>A",
          "hgvs_p": "p.Gln1042Gln",
          "transcript": "ENST00000960195.1",
          "protein_id": "ENSP00000630254.1",
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        {
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          "strand": false,
          "consequences": [
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          "intron_rank": null,
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          "gene_symbol": "LAMB2",
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          "hgvs_c": "c.3192G>A",
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          "transcript": "ENST00000960203.1",
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          "cds_start": 3192,
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          "cdna_start": 3281,
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          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "Q",
          "aa_alt": "Q",
          "canonical": false,
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 22,
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          "exon_count": 32,
          "intron_rank": null,
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          "gene_symbol": "LAMB2",
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          "hgvs_c": "c.3192G>A",
          "hgvs_p": "p.Gln1064Gln",
          "transcript": "ENST00000960199.1",
          "protein_id": "ENSP00000630258.1",
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          "mane_select": null,
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          "biotype": "protein_coding",
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        {
          "aa_ref": "Q",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 22,
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          "exon_count": 32,
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          "gene_symbol": "LAMB2",
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        {
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          "intron_rank": null,
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          "gene_symbol": "LAMB2",
          "gene_hgnc_id": 6487,
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          "transcript": "ENST00000884809.1",
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        },
        {
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          "intron_rank": null,
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          "gene_symbol": "LAMB2",
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          "hgvs_c": "c.3081G>A",
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          "transcript": "ENST00000960191.1",
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          "transcript_support_level": null,
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          "cds_start": 3081,
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          "cdna_start": 3249,
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          "cdna_length": 5560,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000960191.1"
        },
        {
          "aa_ref": "Q",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LAMB2",
          "gene_hgnc_id": 6487,
          "hgvs_c": "c.3048G>A",
          "hgvs_p": "p.Gln1016Gln",
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      "custom_annotations": null
    }
  ],
  "message": null
}
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