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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: 3-185813873-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=185813873&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "3",
      "pos": 185813873,
      "ref": "C",
      "alt": "T",
      "effect": "intron_variant",
      "transcript": "ENST00000382199.7",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "IGF2BP2",
          "gene_hgnc_id": 28867,
          "hgvs_c": "c.239+9280G>A",
          "hgvs_p": null,
          "transcript": "NM_006548.6",
          "protein_id": "NP_006539.3",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 599,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1800,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4283,
          "mane_select": "ENST00000382199.7",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "IGF2BP2",
          "gene_hgnc_id": 28867,
          "hgvs_c": "c.239+9280G>A",
          "hgvs_p": null,
          "transcript": "ENST00000382199.7",
          "protein_id": "ENSP00000371634.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 599,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1800,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4283,
          "mane_select": "NM_006548.6",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "IGF2BP2",
          "gene_hgnc_id": 28867,
          "hgvs_c": "c.239+9280G>A",
          "hgvs_p": null,
          "transcript": "ENST00000346192.7",
          "protein_id": "ENSP00000320204.5",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 556,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1671,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3291,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "IGF2BP2",
          "gene_hgnc_id": 28867,
          "hgvs_c": "c.50+7139G>A",
          "hgvs_p": null,
          "transcript": "ENST00000421047.3",
          "protein_id": "ENSP00000413787.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 536,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1611,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1711,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "IGF2BP2",
          "gene_hgnc_id": 28867,
          "hgvs_c": "c.239+9280G>A",
          "hgvs_p": null,
          "transcript": "NM_001291869.3",
          "protein_id": "NP_001278798.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 605,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1818,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4301,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "IGF2BP2",
          "gene_hgnc_id": 28867,
          "hgvs_c": "c.239+9280G>A",
          "hgvs_p": null,
          "transcript": "ENST00000457616.6",
          "protein_id": "ENSP00000410242.2",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 605,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1818,
          "cdna_start": null,
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          "cdna_length": 3426,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "IGF2BP2",
          "gene_hgnc_id": 28867,
          "hgvs_c": "c.239+9280G>A",
          "hgvs_p": null,
          "transcript": "NM_001007225.3",
          "protein_id": "NP_001007226.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 556,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1671,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4154,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "IGF2BP2",
          "gene_hgnc_id": 28867,
          "hgvs_c": "c.50+7139G>A",
          "hgvs_p": null,
          "transcript": "NM_001291872.3",
          "protein_id": "NP_001278801.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 542,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1629,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4111,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "IGF2BP2",
          "gene_hgnc_id": 28867,
          "hgvs_c": "c.50+7139G>A",
          "hgvs_p": null,
          "transcript": "NM_001291873.3",
          "protein_id": "NP_001278802.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 4093,
          "mane_select": null,
          "mane_plus": null,
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          "feature": null
        },
        {
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 14,
          "intron_rank": 1,
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          "gene_symbol": "IGF2BP2",
          "gene_hgnc_id": 28867,
          "hgvs_c": "c.50+7139G>A",
          "hgvs_p": null,
          "transcript": "NM_001291874.3",
          "protein_id": "NP_001278803.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 493,
          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 3964,
          "mane_select": null,
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        {
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          "canonical": false,
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          "gene_symbol": "IGF2BP2",
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          "transcript": "NM_001291875.3",
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          "aa_start": null,
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          "cds_start": -4,
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          "cdna_start": null,
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          "mane_select": null,
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        {
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          "canonical": false,
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          "consequences": [
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          "intron_rank": 1,
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          "gene_symbol": "IGF2BP2",
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        {
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          "gene_symbol": "IGF2BP2",
          "gene_hgnc_id": 28867,
          "hgvs_c": "c.35+9280G>A",
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