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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: 4-1982108-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=1982108&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
  "variants": [
    {
      "chr": "4",
      "pos": 1982108,
      "ref": "G",
      "alt": "A",
      "effect": "3_prime_UTR_variant",
      "transcript": "ENST00000508803.6",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NSD2",
          "gene_hgnc_id": 12766,
          "hgvs_c": "n.*5580G>A",
          "hgvs_p": null,
          "transcript": "ENST00000312087.10",
          "protein_id": "ENSP00000308780.6",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8050,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NSD2",
          "gene_hgnc_id": 12766,
          "hgvs_c": "n.*5447G>A",
          "hgvs_p": null,
          "transcript": "ENST00000353275.9",
          "protein_id": "ENSP00000329167.5",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7980,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NSD2",
          "gene_hgnc_id": 12766,
          "hgvs_c": "c.*3199G>A",
          "hgvs_p": null,
          "transcript": "NM_001042424.3",
          "protein_id": "NP_001035889.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1365,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4098,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7560,
          "mane_select": "ENST00000508803.6",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NSD2",
          "gene_hgnc_id": 12766,
          "hgvs_c": "c.*3199G>A",
          "hgvs_p": null,
          "transcript": "ENST00000508803.6",
          "protein_id": "ENSP00000423972.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1365,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4098,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7560,
          "mane_select": "NM_001042424.3",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NSD2",
          "gene_hgnc_id": 12766,
          "hgvs_c": "c.*3199G>A",
          "hgvs_p": null,
          "transcript": "ENST00000382892.6",
          "protein_id": "ENSP00000372348.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1365,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4098,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7706,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 24,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NSD2",
          "gene_hgnc_id": 12766,
          "hgvs_c": "c.*3199G>A",
          "hgvs_p": null,
          "transcript": "ENST00000382895.7",
          "protein_id": "ENSP00000372351.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1365,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4098,
          "cdna_start": null,
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          "cdna_length": 7827,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NSD2",
          "gene_hgnc_id": 12766,
          "hgvs_c": "n.*5580G>A",
          "hgvs_p": null,
          "transcript": "ENST00000312087.10",
          "protein_id": "ENSP00000308780.6",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8050,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NSD2",
          "gene_hgnc_id": 12766,
          "hgvs_c": "n.*5447G>A",
          "hgvs_p": null,
          "transcript": "ENST00000353275.9",
          "protein_id": "ENSP00000329167.5",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7980,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NSD2",
          "gene_hgnc_id": 12766,
          "hgvs_c": "n.*5063G>A",
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          "transcript": "ENST00000677559.1",
          "protein_id": "ENSP00000504406.1",
          "transcript_support_level": null,
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          "mane_select": null,
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        },
        {
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          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
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          "gene_symbol": "NSD2",
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          "hgvs_c": "n.4487G>A",
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          "intron_rank": null,
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          "gene_symbol": "NSD2",
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        {
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          "canonical": false,
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          "strand": true,
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          "exon_count": 23,
          "intron_rank": null,
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          "gene_symbol": "NSD2",
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          "hgvs_c": "c.*3199G>A",
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          "exon_count": 24,
          "intron_rank": null,
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          "gene_symbol": "NSD2",
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          "intron_rank": null,
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          "gene_symbol": "NSD2",
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          "hgvs_c": "c.*3199G>A",
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        {
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          ],
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          "intron_rank": null,
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          "gene_symbol": "NSD2",
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          "consequences": [
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          "exon_count": 21,
          "intron_rank": null,
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          "gene_symbol": "NSD2",
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          "hgvs_c": "c.*3199G>A",
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          ],
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          ],
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          ],
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          "gene_symbol": "NSD2",
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          "hgvs_c": "c.*3199G>A",
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        },
        {
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          "protein_coding": true,
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          "consequences": [
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          ],
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          "exon_count": 19,
          "intron_rank": null,
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          "gene_symbol": "NSD2",
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          "hgvs_c": "c.*3199G>A",
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}