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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: 16-57655474-G-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=57655474&ref=G&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "16",
      "pos": 57655474,
      "ref": "G",
      "alt": "T",
      "effect": "missense_variant",
      "transcript": "ENST00000562631.7",
      "consequences": [
        {
          "aa_ref": "G",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ADGRG1",
          "gene_hgnc_id": 4512,
          "hgvs_c": "c.844G>T",
          "hgvs_p": "p.Gly282Trp",
          "transcript": "NM_201525.4",
          "protein_id": "NP_958933.1",
          "transcript_support_level": null,
          "aa_start": 282,
          "aa_end": null,
          "aa_length": 687,
          "cds_start": 844,
          "cds_end": null,
          "cds_length": 2064,
          "cdna_start": 1052,
          "cdna_end": null,
          "cdna_length": 4257,
          "mane_select": "ENST00000562631.7",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "W",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ADGRG1",
          "gene_hgnc_id": 4512,
          "hgvs_c": "c.844G>T",
          "hgvs_p": "p.Gly282Trp",
          "transcript": "ENST00000562631.7",
          "protein_id": "ENSP00000455351.2",
          "transcript_support_level": 1,
          "aa_start": 282,
          "aa_end": null,
          "aa_length": 687,
          "cds_start": 844,
          "cds_end": null,
          "cds_length": 2064,
          "cdna_start": 1052,
          "cdna_end": null,
          "cdna_length": 4257,
          "mane_select": "NM_201525.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ADGRG1",
          "gene_hgnc_id": 4512,
          "hgvs_c": "c.844G>T",
          "hgvs_p": "p.Gly282Trp",
          "transcript": "ENST00000567835.5",
          "protein_id": "ENSP00000456794.1",
          "transcript_support_level": 1,
          "aa_start": 282,
          "aa_end": null,
          "aa_length": 693,
          "cds_start": 844,
          "cds_end": null,
          "cds_length": 2082,
          "cdna_start": 1057,
          "cdna_end": null,
          "cdna_length": 3741,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ADGRG1",
          "gene_hgnc_id": 4512,
          "hgvs_c": "c.844G>T",
          "hgvs_p": "p.Gly282Trp",
          "transcript": "ENST00000388813.9",
          "protein_id": "ENSP00000373465.5",
          "transcript_support_level": 1,
          "aa_start": 282,
          "aa_end": null,
          "aa_length": 687,
          "cds_start": 844,
          "cds_end": null,
          "cds_length": 2064,
          "cdna_start": 1271,
          "cdna_end": null,
          "cdna_length": 3925,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ADGRG1",
          "gene_hgnc_id": 4512,
          "hgvs_c": "c.844G>T",
          "hgvs_p": "p.Gly282Trp",
          "transcript": "ENST00000540164.6",
          "protein_id": "ENSP00000444911.2",
          "transcript_support_level": 1,
          "aa_start": 282,
          "aa_end": null,
          "aa_length": 687,
          "cds_start": 844,
          "cds_end": null,
          "cds_length": 2064,
          "cdna_start": 1150,
          "cdna_end": null,
          "cdna_length": 3820,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ADGRG1",
          "gene_hgnc_id": 4512,
          "hgvs_c": "c.844G>T",
          "hgvs_p": "p.Gly282Trp",
          "transcript": "ENST00000568908.5",
          "protein_id": "ENSP00000457456.1",
          "transcript_support_level": 1,
          "aa_start": 282,
          "aa_end": null,
          "aa_length": 687,
          "cds_start": 844,
          "cds_end": null,
          "cds_length": 2064,
          "cdna_start": 1192,
          "cdna_end": null,
          "cdna_length": 3852,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ADGRG1",
          "gene_hgnc_id": 4512,
          "hgvs_c": "c.844G>T",
          "hgvs_p": "p.Gly282Trp",
          "transcript": "NM_001145771.3",
          "protein_id": "NP_001139243.1",
          "transcript_support_level": null,
          "aa_start": 282,
          "aa_end": null,
          "aa_length": 693,
          "cds_start": 844,
          "cds_end": null,
          "cds_length": 2082,
          "cdna_start": 1170,
          "cdna_end": null,
          "cdna_length": 4393,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ADGRG1",
          "gene_hgnc_id": 4512,
          "hgvs_c": "c.844G>T",
          "hgvs_p": "p.Gly282Trp",
          "transcript": "NM_001370428.1",
          "protein_id": "NP_001357357.1",
          "transcript_support_level": null,
          "aa_start": 282,
          "aa_end": null,
          "aa_length": 693,
          "cds_start": 844,
          "cds_end": null,
          "cds_length": 2082,
          "cdna_start": 1141,
          "cdna_end": null,
          "cdna_length": 4364,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ADGRG1",
          "gene_hgnc_id": 4512,
          "hgvs_c": "c.844G>T",
          "hgvs_p": "p.Gly282Trp",
          "transcript": "NM_001370429.1",
          "protein_id": "NP_001357358.1",
          "transcript_support_level": null,
          "aa_start": 282,
          "aa_end": null,
          "aa_length": 693,
          "cds_start": 844,
          "cds_end": null,
          "cds_length": 2082,
          "cdna_start": 1052,
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          "cdna_length": 4275,
          "mane_select": null,
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          "biotype": null,
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        },
        {
          "aa_ref": "G",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
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          "gene_symbol": "ADGRG1",
          "gene_hgnc_id": 4512,
          "hgvs_c": "c.844G>T",
          "hgvs_p": "p.Gly282Trp",
          "transcript": "NM_001370430.1",
          "protein_id": "NP_001357359.1",
          "transcript_support_level": null,
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          "aa_length": 693,
          "cds_start": 844,
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          "cdna_start": 1023,
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        {
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          "gene_symbol": "ADGRG1",
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          "hgvs_c": "c.844G>T",
          "hgvs_p": "p.Gly282Trp",
          "transcript": "NM_001370431.1",
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        {
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          "hgvs_c": "c.844G>T",
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        {
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          "intron_rank": null,
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          "gene_symbol": "ADGRG1",
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          "hgvs_c": "c.844G>T",
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        {
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          "gene_symbol": "ADGRG1",
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        {
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          "gene_symbol": "ADGRG1",
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}