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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: 2-127418481-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=127418481&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "2",
      "pos": 127418481,
      "ref": "C",
      "alt": "T",
      "effect": "5_prime_UTR_premature_start_codon_gain_variant",
      "transcript": "NM_001375605.1",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_premature_start_codon_gain_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PROC",
          "gene_hgnc_id": 9451,
          "hgvs_c": "c.-33C>T",
          "hgvs_p": null,
          "transcript": "NM_000312.4",
          "protein_id": "NP_000303.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 461,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1386,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000234071.8",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_000312.4"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_premature_start_codon_gain_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PROC",
          "gene_hgnc_id": 9451,
          "hgvs_c": "c.-33C>T",
          "hgvs_p": null,
          "transcript": "ENST00000234071.8",
          "protein_id": "ENSP00000234071.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 461,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1386,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_000312.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000234071.8"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PROC",
          "gene_hgnc_id": 9451,
          "hgvs_c": "c.-33C>T",
          "hgvs_p": null,
          "transcript": "NM_000312.4",
          "protein_id": "NP_000303.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 461,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1386,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000234071.8",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_000312.4"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PROC",
          "gene_hgnc_id": 9451,
          "hgvs_c": "c.-33C>T",
          "hgvs_p": null,
          "transcript": "ENST00000234071.8",
          "protein_id": "ENSP00000234071.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 461,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1386,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_000312.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000234071.8"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_premature_start_codon_gain_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PROC",
          "gene_hgnc_id": 9451,
          "hgvs_c": "c.-33C>T",
          "hgvs_p": null,
          "transcript": "ENST00000883860.1",
          "protein_id": "ENSP00000553919.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 519,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1560,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000883860.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_premature_start_codon_gain_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PROC",
          "gene_hgnc_id": 9451,
          "hgvs_c": "c.-33C>T",
          "hgvs_p": null,
          "transcript": "NM_001375605.1",
          "protein_id": "NP_001362534.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 495,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1488,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001375605.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_premature_start_codon_gain_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PROC",
          "gene_hgnc_id": 9451,
          "hgvs_c": "c.-33C>T",
          "hgvs_p": null,
          "transcript": "ENST00000883843.1",
          "protein_id": "ENSP00000553902.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 495,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1488,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000883843.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_premature_start_codon_gain_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PROC",
          "gene_hgnc_id": 9451,
          "hgvs_c": "c.-29C>T",
          "hgvs_p": null,
          "transcript": "ENST00000883844.1",
          "protein_id": "ENSP00000553903.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 495,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1488,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000883844.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_premature_start_codon_gain_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PROC",
          "gene_hgnc_id": 9451,
          "hgvs_c": "c.-49C>T",
          "hgvs_p": null,
          "transcript": "ENST00000883854.1",
          "protein_id": "ENSP00000553913.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 495,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1488,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000883854.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_premature_start_codon_gain_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PROC",
          "gene_hgnc_id": 9451,
          "hgvs_c": "c.-53C>T",
          "hgvs_p": null,
          "transcript": "ENST00000883861.1",
          "protein_id": "ENSP00000553920.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 495,
          "cds_start": null,
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          "cds_length": 1488,
          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_premature_start_codon_gain_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PROC",
          "gene_hgnc_id": 9451,
          "hgvs_c": "c.-33C>T",
          "hgvs_p": null,
          "transcript": "ENST00000883865.1",
          "protein_id": "ENSP00000553924.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 493,
          "cds_start": null,
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          "cds_length": 1482,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
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          "exon_count": 9,
          "intron_rank": null,
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          "gene_symbol": "PROC",
          "gene_hgnc_id": 9451,
          "hgvs_c": "c.-29C>T",
          "hgvs_p": null,
          "transcript": "ENST00000883851.1",
          "protein_id": "ENSP00000553910.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 485,
          "cds_start": null,
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          "cdna_start": null,
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          "mane_select": null,
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        {
          "aa_ref": null,
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          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_premature_start_codon_gain_variant"
          ],
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          "intron_rank": null,
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          "gene_symbol": "PROC",
          "gene_hgnc_id": 9451,
          "hgvs_c": "c.-149C>T",
          "hgvs_p": null,
          "transcript": "ENST00000883856.1",
          "protein_id": "ENSP00000553915.1",
          "transcript_support_level": null,
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          "cds_start": null,
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          "cdna_start": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000883856.1"
        },
        {
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          "canonical": false,
          "protein_coding": true,
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          "consequences": [
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          ],
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          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PROC",
          "gene_hgnc_id": 9451,
          "hgvs_c": "c.-149C>T",
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          "transcript": "ENST00000883857.1",
          "protein_id": "ENSP00000553916.1",
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        {
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          "intron_rank": null,
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          "gene_symbol": "PROC",
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          "hgvs_c": "c.-29C>T",
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          "protein_id": "ENSP00000553927.1",
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          "biotype": "protein_coding",
          "feature": "ENST00000883868.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
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          "consequences": [
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          ],
          "exon_rank": 1,
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          "intron_rank": null,
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          "gene_symbol": "PROC",
          "gene_hgnc_id": 9451,
          "hgvs_c": "c.-33C>T",
          "hgvs_p": null,
          "transcript": "ENST00000883870.1",
          "protein_id": "ENSP00000553929.1",
          "transcript_support_level": null,
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        {
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            "5_prime_UTR_premature_start_codon_gain_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PROC",
          "gene_hgnc_id": 9451,
          "hgvs_c": "c.-29C>T",
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          "transcript": "ENST00000883869.1",
          "protein_id": "ENSP00000553928.1",
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        {
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          ],
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          "intron_rank": null,
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          "gene_symbol": "PROC",
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          "hgvs_c": "c.-49C>T",
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          "transcript": "NM_001375611.1",
          "protein_id": "NP_001362540.1",
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        {
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          ],
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          "intron_rank": null,
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          "gene_symbol": "PROC",
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          "hgvs_c": "c.-29C>T",
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          "transcript": "ENST00000883842.1",
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000883842.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_premature_start_codon_gain_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PROC",
          "gene_hgnc_id": 9451,
          "hgvs_c": "c.-85C>T",
          "hgvs_p": null,
          "transcript": "ENST00000883845.1",
          "protein_id": "ENSP00000553904.1",
          "transcript_support_level": null,
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          "cds_start": null,
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          "transcript": "ENST00000883875.1",
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        {
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          "transcript": "ENST00000883879.1",
          "protein_id": "ENSP00000553938.1",
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          "cds_length": 1329,
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          "biotype": "protein_coding",
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        {
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          "consequences": [
            "upstream_gene_variant"
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          "gene_symbol": "PROC",
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          "hgvs_c": "c.-394C>T",
          "hgvs_p": null,
          "transcript": "ENST00000883883.1",
          "protein_id": "ENSP00000553942.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_length": 1329,
          "cdna_start": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000883883.1"
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      ],
      "gene_symbol": "PROC",
      "gene_hgnc_id": 9451,
      "dbsnp": "rs116169054",
      "frequency_reference_population": 0.0017126793,
      "hom_count_reference_population": 26,
      "allele_count_reference_population": 2209,
      "gnomad_exomes_af": 0.000869451,
      "gnomad_genomes_af": 0.00801093,
      "gnomad_exomes_ac": 989,
      "gnomad_genomes_ac": 1220,
      "gnomad_exomes_homalt": 10,
      "gnomad_genomes_homalt": 16,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.07800000160932541,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "REVEL",
      "splice_score_selected": 0.009999999776482582,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.078,
      "revel_prediction": "Benign",
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.81,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -2.093,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0.01,
      "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": -18,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BS1,BS2",
      "acmg_by_gene": [
        {
          "score": -18,
          "benign_score": 18,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Moderate",
            "BP6_Very_Strong",
            "BS1",
            "BS2"
          ],
          "verdict": "Benign",
          "transcript": "NM_001375605.1",
          "gene_symbol": "PROC",
          "hgnc_id": 9451,
          "effects": [
            "5_prime_UTR_premature_start_codon_gain_variant"
          ],
          "inheritance_mode": "AD,AR,SD",
          "hgvs_c": "c.-33C>T",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": " autosomal dominant,PROC-related disorder,Thrombophilia due to protein C deficiency,not provided",
      "clinvar_classification": "Likely benign",
      "clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
      "clinvar_submissions_summary": "LB:2",
      "phenotype_combined": "Thrombophilia due to protein C deficiency, autosomal dominant|not provided|PROC-related disorder",
      "pathogenicity_classification_combined": "Likely benign",
      "custom_annotations": null
    }
  ],
  "message": null
}