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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: 8-89946173-A-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=89946173&ref=A&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "8",
      "pos": 89946173,
      "ref": "A",
      "alt": "T",
      "effect": "stop_gained",
      "transcript": "NM_002485.5",
      "consequences": [
        {
          "aa_ref": "Y",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NBN",
          "gene_hgnc_id": 7652,
          "hgvs_c": "c.2037T>A",
          "hgvs_p": "p.Tyr679*",
          "transcript": "NM_002485.5",
          "protein_id": "NP_002476.2",
          "transcript_support_level": null,
          "aa_start": 679,
          "aa_end": null,
          "aa_length": 754,
          "cds_start": 2037,
          "cds_end": null,
          "cds_length": 2265,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000265433.8",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_002485.5"
        },
        {
          "aa_ref": "Y",
          "aa_alt": "*",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NBN",
          "gene_hgnc_id": 7652,
          "hgvs_c": "c.2037T>A",
          "hgvs_p": "p.Tyr679*",
          "transcript": "ENST00000265433.8",
          "protein_id": "ENSP00000265433.4",
          "transcript_support_level": 1,
          "aa_start": 679,
          "aa_end": null,
          "aa_length": 754,
          "cds_start": 2037,
          "cds_end": null,
          "cds_length": 2265,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_002485.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000265433.8"
        },
        {
          "aa_ref": "Y",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NBN",
          "gene_hgnc_id": 7652,
          "hgvs_c": "c.2037T>A",
          "hgvs_p": "p.Tyr679*",
          "transcript": "ENST00000697309.1",
          "protein_id": "ENSP00000513244.1",
          "transcript_support_level": null,
          "aa_start": 679,
          "aa_end": null,
          "aa_length": 782,
          "cds_start": 2037,
          "cds_end": null,
          "cds_length": 2349,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000697309.1"
        },
        {
          "aa_ref": "Y",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NBN",
          "gene_hgnc_id": 7652,
          "hgvs_c": "c.2037T>A",
          "hgvs_p": "p.Tyr679*",
          "transcript": "ENST00000697293.1",
          "protein_id": "ENSP00000513230.1",
          "transcript_support_level": null,
          "aa_start": 679,
          "aa_end": null,
          "aa_length": 771,
          "cds_start": 2037,
          "cds_end": null,
          "cds_length": 2316,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000697293.1"
        },
        {
          "aa_ref": "Y",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NBN",
          "gene_hgnc_id": 7652,
          "hgvs_c": "c.2037T>A",
          "hgvs_p": "p.Tyr679*",
          "transcript": "ENST00000697292.1",
          "protein_id": "ENSP00000513229.1",
          "transcript_support_level": null,
          "aa_start": 679,
          "aa_end": null,
          "aa_length": 754,
          "cds_start": 2037,
          "cds_end": null,
          "cds_length": 2265,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000697292.1"
        },
        {
          "aa_ref": "Y",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NBN",
          "gene_hgnc_id": 7652,
          "hgvs_c": "c.2037T>A",
          "hgvs_p": "p.Tyr679*",
          "transcript": "ENST00000697310.1",
          "protein_id": "ENSP00000513245.1",
          "transcript_support_level": null,
          "aa_start": 679,
          "aa_end": null,
          "aa_length": 754,
          "cds_start": 2037,
          "cds_end": null,
          "cds_length": 2265,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000697310.1"
        },
        {
          "aa_ref": "Y",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NBN",
          "gene_hgnc_id": 7652,
          "hgvs_c": "c.2037T>A",
          "hgvs_p": "p.Tyr679*",
          "transcript": "ENST00000969898.1",
          "protein_id": "ENSP00000639957.1",
          "transcript_support_level": null,
          "aa_start": 679,
          "aa_end": null,
          "aa_length": 754,
          "cds_start": 2037,
          "cds_end": null,
          "cds_length": 2265,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000969898.1"
        },
        {
          "aa_ref": "Y",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NBN",
          "gene_hgnc_id": 7652,
          "hgvs_c": "c.2031T>A",
          "hgvs_p": "p.Tyr677*",
          "transcript": "ENST00000969900.1",
          "protein_id": "ENSP00000639959.1",
          "transcript_support_level": null,
          "aa_start": 677,
          "aa_end": null,
          "aa_length": 752,
          "cds_start": 2031,
          "cds_end": null,
          "cds_length": 2259,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000969900.1"
        },
        {
          "aa_ref": "Y",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NBN",
          "gene_hgnc_id": 7652,
          "hgvs_c": "c.2019T>A",
          "hgvs_p": "p.Tyr673*",
          "transcript": "ENST00000915948.1",
          "protein_id": "ENSP00000586007.1",
          "transcript_support_level": null,
          "aa_start": 673,
          "aa_end": null,
          "aa_length": 748,
          "cds_start": 2019,
          "cds_end": null,
          "cds_length": 2247,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000915948.1"
        },
        {
          "aa_ref": "Y",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NBN",
          "gene_hgnc_id": 7652,
          "hgvs_c": "c.1968T>A",
          "hgvs_p": "p.Tyr656*",
          "transcript": "ENST00000697308.1",
          "protein_id": "ENSP00000513243.1",
          "transcript_support_level": null,
          "aa_start": 656,
          "aa_end": null,
          "aa_length": 731,
          "cds_start": 1968,
          "cds_end": null,
          "cds_length": 2196,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000697308.1"
        },
        {
          "aa_ref": "Y",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NBN",
          "gene_hgnc_id": 7652,
          "hgvs_c": "c.2037T>A",
          "hgvs_p": "p.Tyr679*",
          "transcript": "ENST00000969899.1",
          "protein_id": "ENSP00000639958.1",
          "transcript_support_level": null,
          "aa_start": 679,
          "aa_end": null,
          "aa_length": 716,
          "cds_start": 2037,
          "cds_end": null,
          "cds_length": 2151,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000969899.1"
        },
        {
          "aa_ref": "Y",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NBN",
          "gene_hgnc_id": 7652,
          "hgvs_c": "c.1791T>A",
          "hgvs_p": "p.Tyr597*",
          "transcript": "NM_001024688.3",
          "protein_id": "NP_001019859.1",
          "transcript_support_level": null,
          "aa_start": 597,
          "aa_end": null,
          "aa_length": 672,
          "cds_start": 1791,
          "cds_end": null,
          "cds_length": 2019,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001024688.3"
        },
        {
          "aa_ref": "Y",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NBN",
          "gene_hgnc_id": 7652,
          "hgvs_c": "c.1791T>A",
          "hgvs_p": "p.Tyr597*",
          "transcript": "NM_001440379.1",
          "protein_id": "NP_001427308.1",
          "transcript_support_level": null,
          "aa_start": 597,
          "aa_end": null,
          "aa_length": 672,
          "cds_start": 1791,
          "cds_end": null,
          "cds_length": 2019,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001440379.1"
        },
        {
          "aa_ref": "Y",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NBN",
          "gene_hgnc_id": 7652,
          "hgvs_c": "c.1791T>A",
          "hgvs_p": "p.Tyr597*",
          "transcript": "NM_001440380.1",
          "protein_id": "NP_001427309.1",
          "transcript_support_level": null,
          "aa_start": 597,
          "aa_end": null,
          "aa_length": 672,
          "cds_start": 1791,
          "cds_end": null,
          "cds_length": 2019,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001440380.1"
        },
        {
          "aa_ref": "Y",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NBN",
          "gene_hgnc_id": 7652,
          "hgvs_c": "c.1791T>A",
          "hgvs_p": "p.Tyr597*",
          "transcript": "ENST00000409330.5",
          "protein_id": "ENSP00000386924.1",
          "transcript_support_level": 5,
          "aa_start": 597,
          "aa_end": null,
          "aa_length": 672,
          "cds_start": 1791,
          "cds_end": null,
          "cds_length": 2019,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000409330.5"
        },
        {
          "aa_ref": "Y",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NBN",
          "gene_hgnc_id": 7652,
          "hgvs_c": "c.1791T>A",
          "hgvs_p": "p.Tyr597*",
          "transcript": "ENST00000517337.2",
          "protein_id": "ENSP00000429971.2",
          "transcript_support_level": 4,
          "aa_start": 597,
          "aa_end": null,
          "aa_length": 672,
          "cds_start": 1791,
          "cds_end": null,
          "cds_length": 2019,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000517337.2"
        },
        {
          "aa_ref": "Y",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NBN",
          "gene_hgnc_id": 7652,
          "hgvs_c": "c.1791T>A",
          "hgvs_p": "p.Tyr597*",
          "transcript": "ENST00000523444.2",
          "protein_id": "ENSP00000428252.2",
          "transcript_support_level": 4,
          "aa_start": 597,
          "aa_end": null,
          "aa_length": 672,
          "cds_start": 1791,
          "cds_end": null,
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          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000523444.2"
        },
        {
          "aa_ref": "Y",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NBN",
          "gene_hgnc_id": 7652,
          "hgvs_c": "c.1791T>A",
          "hgvs_p": "p.Tyr597*",
          "transcript": "ENST00000697298.1",
          "protein_id": "ENSP00000513234.1",
          "transcript_support_level": null,
          "aa_start": 597,
          "aa_end": null,
          "aa_length": 672,
          "cds_start": 1791,
          "cds_end": null,
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          "cdna_start": null,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000697298.1"
        },
        {
          "aa_ref": "Y",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NBN",
          "gene_hgnc_id": 7652,
          "hgvs_c": "c.1791T>A",
          "hgvs_p": "p.Tyr597*",
          "transcript": "ENST00000697299.1",
          "protein_id": "ENSP00000513235.1",
          "transcript_support_level": null,
          "aa_start": 597,
          "aa_end": null,
          "aa_length": 672,
          "cds_start": 1791,
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          "cds_length": 2019,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000697299.1"
        },
        {
          "aa_ref": "Y",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NBN",
          "gene_hgnc_id": 7652,
          "hgvs_c": "c.1725T>A",
          "hgvs_p": "p.Tyr575*",
          "transcript": "ENST00000697304.1",
          "protein_id": "ENSP00000513240.1",
          "transcript_support_level": null,
          "aa_start": 575,
          "aa_end": null,
          "aa_length": 650,
          "cds_start": 1725,
          "cds_end": null,
          "cds_length": 1953,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000697304.1"
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      "clinvar_classification": "",
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      "clinvar_submissions_summary": "",
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      "pathogenicity_classification_combined": null,
      "custom_annotations": null
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  "message": null
}