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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: 8-144504326-C-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=144504326&ref=C&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "8",
      "pos": 144504326,
      "ref": "C",
      "alt": "A",
      "effect": "synonymous_variant",
      "transcript": "NM_005309.3",
      "consequences": [
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GPT",
          "gene_hgnc_id": 4552,
          "hgvs_c": "c.22C>A",
          "hgvs_p": "p.Arg8Arg",
          "transcript": "NM_005309.3",
          "protein_id": "NP_005300.1",
          "transcript_support_level": null,
          "aa_start": 8,
          "aa_end": null,
          "aa_length": 496,
          "cds_start": 22,
          "cds_end": null,
          "cds_length": 1491,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000394955.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_005309.3"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GPT",
          "gene_hgnc_id": 4552,
          "hgvs_c": "c.22C>A",
          "hgvs_p": "p.Arg8Arg",
          "transcript": "ENST00000394955.3",
          "protein_id": "ENSP00000378408.2",
          "transcript_support_level": 1,
          "aa_start": 8,
          "aa_end": null,
          "aa_length": 496,
          "cds_start": 22,
          "cds_end": null,
          "cds_length": 1491,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_005309.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000394955.3"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GPT",
          "gene_hgnc_id": 4552,
          "hgvs_c": "c.22C>A",
          "hgvs_p": "p.Arg8Arg",
          "transcript": "ENST00000528431.5",
          "protein_id": "ENSP00000433586.1",
          "transcript_support_level": 1,
          "aa_start": 8,
          "aa_end": null,
          "aa_length": 496,
          "cds_start": 22,
          "cds_end": null,
          "cds_length": 1491,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000528431.5"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GPT",
          "gene_hgnc_id": 4552,
          "hgvs_c": "c.22C>A",
          "hgvs_p": "p.Arg8Arg",
          "transcript": "ENST00000894981.1",
          "protein_id": "ENSP00000565040.1",
          "transcript_support_level": null,
          "aa_start": 8,
          "aa_end": null,
          "aa_length": 508,
          "cds_start": 22,
          "cds_end": null,
          "cds_length": 1527,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000894981.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GPT",
          "gene_hgnc_id": 4552,
          "hgvs_c": "c.22C>A",
          "hgvs_p": "p.Arg8Arg",
          "transcript": "NM_001382664.1",
          "protein_id": "NP_001369593.1",
          "transcript_support_level": null,
          "aa_start": 8,
          "aa_end": null,
          "aa_length": 496,
          "cds_start": 22,
          "cds_end": null,
          "cds_length": 1491,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001382664.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GPT",
          "gene_hgnc_id": 4552,
          "hgvs_c": "c.22C>A",
          "hgvs_p": "p.Arg8Arg",
          "transcript": "NM_001382665.1",
          "protein_id": "NP_001369594.1",
          "transcript_support_level": null,
          "aa_start": 8,
          "aa_end": null,
          "aa_length": 496,
          "cds_start": 22,
          "cds_end": null,
          "cds_length": 1491,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001382665.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GPT",
          "gene_hgnc_id": 4552,
          "hgvs_c": "c.22C>A",
          "hgvs_p": "p.Arg8Arg",
          "transcript": "ENST00000894967.1",
          "protein_id": "ENSP00000565026.1",
          "transcript_support_level": null,
          "aa_start": 8,
          "aa_end": null,
          "aa_length": 496,
          "cds_start": 22,
          "cds_end": null,
          "cds_length": 1491,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000894967.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GPT",
          "gene_hgnc_id": 4552,
          "hgvs_c": "c.22C>A",
          "hgvs_p": "p.Arg8Arg",
          "transcript": "ENST00000894968.1",
          "protein_id": "ENSP00000565027.1",
          "transcript_support_level": null,
          "aa_start": 8,
          "aa_end": null,
          "aa_length": 496,
          "cds_start": 22,
          "cds_end": null,
          "cds_length": 1491,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000894968.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GPT",
          "gene_hgnc_id": 4552,
          "hgvs_c": "c.22C>A",
          "hgvs_p": "p.Arg8Arg",
          "transcript": "ENST00000894969.1",
          "protein_id": "ENSP00000565028.1",
          "transcript_support_level": null,
          "aa_start": 8,
          "aa_end": null,
          "aa_length": 496,
          "cds_start": 22,
          "cds_end": null,
          "cds_length": 1491,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000894969.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GPT",
          "gene_hgnc_id": 4552,
          "hgvs_c": "c.22C>A",
          "hgvs_p": "p.Arg8Arg",
          "transcript": "ENST00000894970.1",
          "protein_id": "ENSP00000565029.1",
          "transcript_support_level": null,
          "aa_start": 8,
          "aa_end": null,
          "aa_length": 496,
          "cds_start": 22,
          "cds_end": null,
          "cds_length": 1491,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000894970.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GPT",
          "gene_hgnc_id": 4552,
          "hgvs_c": "c.22C>A",
          "hgvs_p": "p.Arg8Arg",
          "transcript": "ENST00000894972.1",
          "protein_id": "ENSP00000565031.1",
          "transcript_support_level": null,
          "aa_start": 8,
          "aa_end": null,
          "aa_length": 496,
          "cds_start": 22,
          "cds_end": null,
          "cds_length": 1491,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000894972.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GPT",
          "gene_hgnc_id": 4552,
          "hgvs_c": "c.22C>A",
          "hgvs_p": "p.Arg8Arg",
          "transcript": "ENST00000894973.1",
          "protein_id": "ENSP00000565032.1",
          "transcript_support_level": null,
          "aa_start": 8,
          "aa_end": null,
          "aa_length": 496,
          "cds_start": 22,
          "cds_end": null,
          "cds_length": 1491,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000894973.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GPT",
          "gene_hgnc_id": 4552,
          "hgvs_c": "c.22C>A",
          "hgvs_p": "p.Arg8Arg",
          "transcript": "ENST00000894974.1",
          "protein_id": "ENSP00000565033.1",
          "transcript_support_level": null,
          "aa_start": 8,
          "aa_end": null,
          "aa_length": 496,
          "cds_start": 22,
          "cds_end": null,
          "cds_length": 1491,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000894974.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GPT",
          "gene_hgnc_id": 4552,
          "hgvs_c": "c.22C>A",
          "hgvs_p": "p.Arg8Arg",
          "transcript": "ENST00000894975.1",
          "protein_id": "ENSP00000565034.1",
          "transcript_support_level": null,
          "aa_start": 8,
          "aa_end": null,
          "aa_length": 496,
          "cds_start": 22,
          "cds_end": null,
          "cds_length": 1491,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000894975.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GPT",
          "gene_hgnc_id": 4552,
          "hgvs_c": "c.22C>A",
          "hgvs_p": "p.Arg8Arg",
          "transcript": "ENST00000894978.1",
          "protein_id": "ENSP00000565037.1",
          "transcript_support_level": null,
          "aa_start": 8,
          "aa_end": null,
          "aa_length": 495,
          "cds_start": 22,
          "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": "ENST00000894978.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GPT",
          "gene_hgnc_id": 4552,
          "hgvs_c": "c.22C>A",
          "hgvs_p": "p.Arg8Arg",
          "transcript": "ENST00000894979.1",
          "protein_id": "ENSP00000565038.1",
          "transcript_support_level": null,
          "aa_start": 8,
          "aa_end": null,
          "aa_length": 493,
          "cds_start": 22,
          "cds_end": null,
          "cds_length": 1482,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000894979.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GPT",
          "gene_hgnc_id": 4552,
          "hgvs_c": "c.22C>A",
          "hgvs_p": "p.Arg8Arg",
          "transcript": "ENST00000894977.1",
          "protein_id": "ENSP00000565036.1",
          "transcript_support_level": null,
          "aa_start": 8,
          "aa_end": null,
          "aa_length": 488,
          "cds_start": 22,
          "cds_end": null,
          "cds_length": 1467,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000894977.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GPT",
          "gene_hgnc_id": 4552,
          "hgvs_c": "c.22C>A",
          "hgvs_p": "p.Arg8Arg",
          "transcript": "ENST00000894983.1",
          "protein_id": "ENSP00000565042.1",
          "transcript_support_level": null,
          "aa_start": 8,
          "aa_end": null,
          "aa_length": 484,
          "cds_start": 22,
          "cds_end": null,
          "cds_length": 1455,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000894983.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GPT",
          "gene_hgnc_id": 4552,
          "hgvs_c": "c.22C>A",
          "hgvs_p": "p.Arg8Arg",
          "transcript": "ENST00000894980.1",
          "protein_id": "ENSP00000565039.1",
          "transcript_support_level": null,
          "aa_start": 8,
          "aa_end": null,
          "aa_length": 478,
          "cds_start": 22,
          "cds_end": null,
          "cds_length": 1437,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000894980.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "GPT",
          "gene_hgnc_id": 4552,
          "hgvs_c": "c.22C>A",
          "hgvs_p": "p.Arg8Arg",
          "transcript": "ENST00000894982.1",
          "protein_id": "ENSP00000565041.1",
          "transcript_support_level": null,
          "aa_start": 8,
          "aa_end": null,
          "aa_length": 475,
          "cds_start": 22,
          "cds_end": null,
          "cds_length": 1428,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000894982.1"
        },
        {
          "aa_ref": "R",
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      "acmg_criteria": "PM2,BP4_Strong,BP7",
      "acmg_by_gene": [
        {
          "score": -3,
          "benign_score": 5,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Strong",
            "BP7"
          ],
          "verdict": "Likely_benign",
          "transcript": "NM_005309.3",
          "gene_symbol": "GPT",
          "hgnc_id": 4552,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.22C>A",
          "hgvs_p": "p.Arg8Arg"
        },
        {
          "score": -2,
          "benign_score": 4,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Strong"
          ],
          "verdict": "Likely_benign",
          "transcript": "ENST00000528690.1",
          "gene_symbol": "ENSG00000255182",
          "hgnc_id": null,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.134+639G>T",
          "hgvs_p": null
        },
        {
          "score": -2,
          "benign_score": 4,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Strong"
          ],
          "verdict": "Likely_benign",
          "transcript": "XR_007061146.1",
          "gene_symbol": "LOC101928953",
          "hgnc_id": null,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.279+639G>T",
          "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
}