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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: 11-27658560-G-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=27658560&ref=G&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "11",
      "pos": 27658560,
      "ref": "G",
      "alt": "C",
      "effect": "missense_variant",
      "transcript": "NM_001709.5",
      "consequences": [
        {
          "aa_ref": "T",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BDNF",
          "gene_hgnc_id": 1033,
          "hgvs_c": "c.5C>G",
          "hgvs_p": "p.Thr2Ser",
          "transcript": "NM_001709.5",
          "protein_id": "NP_001700.2",
          "transcript_support_level": null,
          "aa_start": 2,
          "aa_end": null,
          "aa_length": 247,
          "cds_start": 5,
          "cds_end": null,
          "cds_length": 744,
          "cdna_start": 318,
          "cdna_end": null,
          "cdna_length": 3985,
          "mane_select": "ENST00000356660.9",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "S",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BDNF",
          "gene_hgnc_id": 1033,
          "hgvs_c": "c.5C>G",
          "hgvs_p": "p.Thr2Ser",
          "transcript": "ENST00000356660.9",
          "protein_id": "ENSP00000349084.4",
          "transcript_support_level": 1,
          "aa_start": 2,
          "aa_end": null,
          "aa_length": 247,
          "cds_start": 5,
          "cds_end": null,
          "cds_length": 744,
          "cdna_start": 318,
          "cdna_end": null,
          "cdna_length": 3985,
          "mane_select": "NM_001709.5",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BDNF",
          "gene_hgnc_id": 1033,
          "hgvs_c": "c.251C>G",
          "hgvs_p": "p.Thr84Ser",
          "transcript": "ENST00000438929.5",
          "protein_id": "ENSP00000414303.1",
          "transcript_support_level": 1,
          "aa_start": 84,
          "aa_end": null,
          "aa_length": 329,
          "cds_start": 251,
          "cds_end": null,
          "cds_length": 990,
          "cdna_start": 392,
          "cdna_end": null,
          "cdna_length": 4059,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BDNF",
          "gene_hgnc_id": 1033,
          "hgvs_c": "c.50C>G",
          "hgvs_p": "p.Thr17Ser",
          "transcript": "ENST00000395986.6",
          "protein_id": "ENSP00000379309.2",
          "transcript_support_level": 1,
          "aa_start": 17,
          "aa_end": null,
          "aa_length": 262,
          "cds_start": 50,
          "cds_end": null,
          "cds_length": 789,
          "cdna_start": 312,
          "cdna_end": null,
          "cdna_length": 3979,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BDNF",
          "gene_hgnc_id": 1033,
          "hgvs_c": "c.29C>G",
          "hgvs_p": "p.Thr10Ser",
          "transcript": "ENST00000314915.6",
          "protein_id": "ENSP00000320002.6",
          "transcript_support_level": 1,
          "aa_start": 10,
          "aa_end": null,
          "aa_length": 255,
          "cds_start": 29,
          "cds_end": null,
          "cds_length": 768,
          "cdna_start": 673,
          "cdna_end": null,
          "cdna_length": 4340,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BDNF",
          "gene_hgnc_id": 1033,
          "hgvs_c": "c.5C>G",
          "hgvs_p": "p.Thr2Ser",
          "transcript": "ENST00000395978.7",
          "protein_id": "ENSP00000379302.3",
          "transcript_support_level": 1,
          "aa_start": 2,
          "aa_end": null,
          "aa_length": 247,
          "cds_start": 5,
          "cds_end": null,
          "cds_length": 744,
          "cdna_start": 321,
          "cdna_end": null,
          "cdna_length": 3988,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BDNF",
          "gene_hgnc_id": 1033,
          "hgvs_c": "c.5C>G",
          "hgvs_p": "p.Thr2Ser",
          "transcript": "ENST00000395981.7",
          "protein_id": "ENSP00000379305.3",
          "transcript_support_level": 1,
          "aa_start": 2,
          "aa_end": null,
          "aa_length": 247,
          "cds_start": 5,
          "cds_end": null,
          "cds_length": 744,
          "cdna_start": 404,
          "cdna_end": null,
          "cdna_length": 4071,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BDNF",
          "gene_hgnc_id": 1033,
          "hgvs_c": "c.5C>G",
          "hgvs_p": "p.Thr2Ser",
          "transcript": "ENST00000395983.7",
          "protein_id": "ENSP00000379307.3",
          "transcript_support_level": 1,
          "aa_start": 2,
          "aa_end": null,
          "aa_length": 247,
          "cds_start": 5,
          "cds_end": null,
          "cds_length": 744,
          "cdna_start": 109,
          "cdna_end": null,
          "cdna_length": 3776,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BDNF",
          "gene_hgnc_id": 1033,
          "hgvs_c": "c.5C>G",
          "hgvs_p": "p.Thr2Ser",
          "transcript": "ENST00000418212.5",
          "protein_id": "ENSP00000400502.1",
          "transcript_support_level": 1,
          "aa_start": 2,
          "aa_end": null,
          "aa_length": 247,
          "cds_start": 5,
          "cds_end": null,
          "cds_length": 744,
          "cdna_start": 458,
          "cdna_end": null,
          "cdna_length": 4125,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BDNF",
          "gene_hgnc_id": 1033,
          "hgvs_c": "c.5C>G",
          "hgvs_p": "p.Thr2Ser",
          "transcript": "ENST00000439476.6",
          "protein_id": "ENSP00000389345.2",
          "transcript_support_level": 1,
          "aa_start": 2,
          "aa_end": null,
          "aa_length": 247,
          "cds_start": 5,
          "cds_end": null,
          "cds_length": 744,
          "cdna_start": 865,
          "cdna_end": null,
          "cdna_length": 4532,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BDNF",
          "gene_hgnc_id": 1033,
          "hgvs_c": "c.5C>G",
          "hgvs_p": "p.Thr2Ser",
          "transcript": "ENST00000525950.5",
          "protein_id": "ENSP00000432035.1",
          "transcript_support_level": 1,
          "aa_start": 2,
          "aa_end": null,
          "aa_length": 247,
          "cds_start": 5,
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          "cds_length": 744,
          "cdna_start": 162,
          "cdna_end": null,
          "cdna_length": 3829,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BDNF",
          "gene_hgnc_id": 1033,
          "hgvs_c": "c.5C>G",
          "hgvs_p": "p.Thr2Ser",
          "transcript": "ENST00000530861.5",
          "protein_id": "ENSP00000435564.1",
          "transcript_support_level": 1,
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          "cds_start": 5,
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          "mane_select": null,
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          "biotype": null,
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        },
        {
          "aa_ref": "T",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
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          "gene_symbol": "BDNF",
          "gene_hgnc_id": 1033,
          "hgvs_c": "c.5C>G",
          "hgvs_p": "p.Thr2Ser",
          "transcript": "ENST00000532997.5",
          "protein_id": "ENSP00000435805.1",
          "transcript_support_level": 1,
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          "cdna_start": 263,
          "cdna_end": null,
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
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          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BDNF",
          "gene_hgnc_id": 1033,
          "hgvs_c": "c.5C>G",
          "hgvs_p": "p.Thr2Ser",
          "transcript": "ENST00000533131.5",
          "protein_id": "ENSP00000432727.1",
          "transcript_support_level": 1,
          "aa_start": 2,
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          "aa_length": 247,
          "cds_start": 5,
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          "cds_length": 744,
          "cdna_start": 211,
          "cdna_end": null,
          "cdna_length": 3878,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "T",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BDNF",
          "gene_hgnc_id": 1033,
          "hgvs_c": "c.5C>G",
          "hgvs_p": "p.Thr2Ser",
          "transcript": "ENST00000533246.5",
          "protein_id": "ENSP00000432376.1",
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          "cdna_end": null,
          "cdna_length": 4000,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BDNF",
          "gene_hgnc_id": 1033,
          "hgvs_c": "n.*134C>G",
          "hgvs_p": null,
          "transcript": "ENST00000530786.5",
          "protein_id": "ENSP00000433003.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 4176,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BDNF",
          "gene_hgnc_id": 1033,
          "hgvs_c": "n.363C>G",
          "hgvs_p": null,
          "transcript": "ENST00000584049.5",
          "protein_id": null,
          "transcript_support_level": 1,
          "aa_start": null,
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          "cdna_start": null,
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          "cdna_length": 4030,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BDNF",
          "gene_hgnc_id": 1033,
          "hgvs_c": "n.*134C>G",
          "hgvs_p": null,
          "transcript": "ENST00000530786.5",
          "protein_id": "ENSP00000433003.1",
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          "aa_start": null,
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          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "BDNF-AS",
          "gene_hgnc_id": 20608,
          "hgvs_c": "n.596+98G>C",
          "hgvs_p": null,
          "transcript": "ENST00000499008.8",
          "protein_id": null,
          "transcript_support_level": 1,
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          "cdna_length": 2322,
          "mane_select": null,
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          "biotype": null,
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        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "BDNF-AS",
          "gene_hgnc_id": 20608,
          "hgvs_c": "n.527+98G>C",
          "hgvs_p": null,
          "transcript": "ENST00000499568.3",
          "protein_id": null,
          "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": 2036,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "BDNF-AS",
          "gene_hgnc_id": 20608,
          "hgvs_c": "n.527+98G>C",
          "hgvs_p": null,
          "transcript": "ENST00000500662.7",
          "protein_id": null,
          "transcript_support_level": 1,
          "aa_start": null,
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          "aa_length": null,
          "cds_start": -4,
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          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "BDNF-AS",
          "gene_hgnc_id": 20608,
          "hgvs_c": "n.527+98G>C",
          "hgvs_p": null,
          "transcript": "NR_033315.1",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 1437,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BDNF-AS",
          "gene_hgnc_id": 20608,
          "hgvs_c": "n.*227G>C",
          "hgvs_p": null,
          "transcript": "ENST00000532965.5",
          "protein_id": null,
          "transcript_support_level": 4,
          "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": 572,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "BDNF",
      "gene_hgnc_id": 1033,
      "dbsnp": "rs8192466",
      "frequency_reference_population": 6.840591e-7,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 1,
      "gnomad_exomes_af": 6.84059e-7,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": 1,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.5712586641311646,
      "computational_prediction_selected": "Uncertain_significance",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.384,
      "revel_prediction": "Uncertain_significance",
      "alphamissense_score": 0.3712,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": 0.04,
      "bayesdelnoaf_prediction": "Uncertain_significance",
      "phylop100way_score": 8.002,
      "phylop100way_prediction": "Pathogenic",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
      "dbscsnv_ada_score": null,
      "dbscsnv_ada_prediction": null,
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": 2,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PM2",
      "acmg_by_gene": [
        {
          "score": 2,
          "benign_score": 0,
          "pathogenic_score": 2,
          "criteria": [
            "PM2"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "NM_001709.5",
          "gene_symbol": "BDNF",
          "hgnc_id": 1033,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.5C>G",
          "hgvs_p": "p.Thr2Ser"
        },
        {
          "score": 2,
          "benign_score": 0,
          "pathogenic_score": 2,
          "criteria": [
            "PM2"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "ENST00000650880.1",
          "gene_symbol": "BDNF-AS",
          "hgnc_id": 20608,
          "effects": [
            "non_coding_transcript_exon_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.630G>C",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}