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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: 4-186288454-G-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=186288454&ref=G&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "4",
      "pos": 186288454,
      "ref": "G",
      "alt": "T",
      "effect": "missense_variant,splice_region_variant",
      "transcript": "NM_000128.4",
      "consequences": [
        {
          "aa_ref": "G",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "F11",
          "gene_hgnc_id": 3529,
          "hgvs_c": "c.1718G>T",
          "hgvs_p": "p.Gly573Val",
          "transcript": "NM_000128.4",
          "protein_id": "NP_000119.1",
          "transcript_support_level": null,
          "aa_start": 573,
          "aa_end": null,
          "aa_length": 625,
          "cds_start": 1718,
          "cds_end": null,
          "cds_length": 1878,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000403665.7",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_000128.4"
        },
        {
          "aa_ref": "G",
          "aa_alt": "V",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "F11",
          "gene_hgnc_id": 3529,
          "hgvs_c": "c.1718G>T",
          "hgvs_p": "p.Gly573Val",
          "transcript": "ENST00000403665.7",
          "protein_id": "ENSP00000384957.2",
          "transcript_support_level": 1,
          "aa_start": 573,
          "aa_end": null,
          "aa_length": 625,
          "cds_start": 1718,
          "cds_end": null,
          "cds_length": 1878,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_000128.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000403665.7"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "F11-AS1",
          "gene_hgnc_id": 27725,
          "hgvs_c": "n.979C>A",
          "hgvs_p": null,
          "transcript": "ENST00000505103.5",
          "protein_id": null,
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "ENST00000505103.5"
        },
        {
          "aa_ref": "G",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "F11",
          "gene_hgnc_id": 3529,
          "hgvs_c": "c.1904G>T",
          "hgvs_p": "p.Gly635Val",
          "transcript": "ENST00000886358.1",
          "protein_id": "ENSP00000556417.1",
          "transcript_support_level": null,
          "aa_start": 635,
          "aa_end": null,
          "aa_length": 687,
          "cds_start": 1904,
          "cds_end": null,
          "cds_length": 2064,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000886358.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "F11",
          "gene_hgnc_id": 3529,
          "hgvs_c": "c.1718G>T",
          "hgvs_p": "p.Gly573Val",
          "transcript": "ENST00000886339.1",
          "protein_id": "ENSP00000556398.1",
          "transcript_support_level": null,
          "aa_start": 573,
          "aa_end": null,
          "aa_length": 625,
          "cds_start": 1718,
          "cds_end": null,
          "cds_length": 1878,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000886339.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "F11",
          "gene_hgnc_id": 3529,
          "hgvs_c": "c.1718G>T",
          "hgvs_p": "p.Gly573Val",
          "transcript": "ENST00000886343.1",
          "protein_id": "ENSP00000556402.1",
          "transcript_support_level": null,
          "aa_start": 573,
          "aa_end": null,
          "aa_length": 625,
          "cds_start": 1718,
          "cds_end": null,
          "cds_length": 1878,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000886343.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "F11",
          "gene_hgnc_id": 3529,
          "hgvs_c": "c.1718G>T",
          "hgvs_p": "p.Gly573Val",
          "transcript": "ENST00000886347.1",
          "protein_id": "ENSP00000556406.1",
          "transcript_support_level": null,
          "aa_start": 573,
          "aa_end": null,
          "aa_length": 625,
          "cds_start": 1718,
          "cds_end": null,
          "cds_length": 1878,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000886347.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "F11",
          "gene_hgnc_id": 3529,
          "hgvs_c": "c.1718G>T",
          "hgvs_p": "p.Gly573Val",
          "transcript": "ENST00000886351.1",
          "protein_id": "ENSP00000556410.1",
          "transcript_support_level": null,
          "aa_start": 573,
          "aa_end": null,
          "aa_length": 625,
          "cds_start": 1718,
          "cds_end": null,
          "cds_length": 1878,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000886351.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "F11",
          "gene_hgnc_id": 3529,
          "hgvs_c": "c.1718G>T",
          "hgvs_p": "p.Gly573Val",
          "transcript": "ENST00000886352.1",
          "protein_id": "ENSP00000556411.1",
          "transcript_support_level": null,
          "aa_start": 573,
          "aa_end": null,
          "aa_length": 625,
          "cds_start": 1718,
          "cds_end": null,
          "cds_length": 1878,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000886352.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "F11",
          "gene_hgnc_id": 3529,
          "hgvs_c": "c.1718G>T",
          "hgvs_p": "p.Gly573Val",
          "transcript": "ENST00000886355.1",
          "protein_id": "ENSP00000556414.1",
          "transcript_support_level": null,
          "aa_start": 573,
          "aa_end": null,
          "aa_length": 625,
          "cds_start": 1718,
          "cds_end": null,
          "cds_length": 1878,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000886355.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "F11",
          "gene_hgnc_id": 3529,
          "hgvs_c": "c.1718G>T",
          "hgvs_p": "p.Gly573Val",
          "transcript": "ENST00000886360.1",
          "protein_id": "ENSP00000556419.1",
          "transcript_support_level": null,
          "aa_start": 573,
          "aa_end": null,
          "aa_length": 625,
          "cds_start": 1718,
          "cds_end": null,
          "cds_length": 1878,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000886360.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "F11",
          "gene_hgnc_id": 3529,
          "hgvs_c": "c.1679G>T",
          "hgvs_p": "p.Gly560Val",
          "transcript": "ENST00000886359.1",
          "protein_id": "ENSP00000556418.1",
          "transcript_support_level": null,
          "aa_start": 560,
          "aa_end": null,
          "aa_length": 612,
          "cds_start": 1679,
          "cds_end": null,
          "cds_length": 1839,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000886359.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "F11",
          "gene_hgnc_id": 3529,
          "hgvs_c": "c.1670G>T",
          "hgvs_p": "p.Gly557Val",
          "transcript": "NM_001440590.1",
          "protein_id": "NP_001427519.1",
          "transcript_support_level": null,
          "aa_start": 557,
          "aa_end": null,
          "aa_length": 609,
          "cds_start": 1670,
          "cds_end": null,
          "cds_length": 1830,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001440590.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "F11",
          "gene_hgnc_id": 3529,
          "hgvs_c": "c.1670G>T",
          "hgvs_p": "p.Gly557Val",
          "transcript": "ENST00000886342.1",
          "protein_id": "ENSP00000556401.1",
          "transcript_support_level": null,
          "aa_start": 557,
          "aa_end": null,
          "aa_length": 609,
          "cds_start": 1670,
          "cds_end": null,
          "cds_length": 1830,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000886342.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "F11",
          "gene_hgnc_id": 3529,
          "hgvs_c": "c.1622G>T",
          "hgvs_p": "p.Gly541Val",
          "transcript": "NM_001440593.1",
          "protein_id": "NP_001427522.1",
          "transcript_support_level": null,
          "aa_start": 541,
          "aa_end": null,
          "aa_length": 593,
          "cds_start": 1622,
          "cds_end": null,
          "cds_length": 1782,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001440593.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "F11",
          "gene_hgnc_id": 3529,
          "hgvs_c": "c.1574G>T",
          "hgvs_p": "p.Gly525Val",
          "transcript": "NM_001440596.1",
          "protein_id": "NP_001427525.1",
          "transcript_support_level": null,
          "aa_start": 525,
          "aa_end": null,
          "aa_length": 577,
          "cds_start": 1574,
          "cds_end": null,
          "cds_length": 1734,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001440596.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "F11",
          "gene_hgnc_id": 3529,
          "hgvs_c": "c.1568G>T",
          "hgvs_p": "p.Gly523Val",
          "transcript": "ENST00000886357.1",
          "protein_id": "ENSP00000556416.1",
          "transcript_support_level": null,
          "aa_start": 523,
          "aa_end": null,
          "aa_length": 575,
          "cds_start": 1568,
          "cds_end": null,
          "cds_length": 1728,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000886357.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "F11",
          "gene_hgnc_id": 3529,
          "hgvs_c": "c.1448G>T",
          "hgvs_p": "p.Gly483Val",
          "transcript": "NM_001440605.1",
          "protein_id": "NP_001427534.1",
          "transcript_support_level": null,
          "aa_start": 483,
          "aa_end": null,
          "aa_length": 535,
          "cds_start": 1448,
          "cds_end": null,
          "cds_length": 1608,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001440605.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "F11",
          "gene_hgnc_id": 3529,
          "hgvs_c": "c.1448G>T",
          "hgvs_p": "p.Gly483Val",
          "transcript": "ENST00000886340.1",
          "protein_id": "ENSP00000556399.1",
          "transcript_support_level": null,
          "aa_start": 483,
          "aa_end": null,
          "aa_length": 535,
          "cds_start": 1448,
          "cds_end": null,
          "cds_length": 1608,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000886340.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "F11",
          "gene_hgnc_id": 3529,
          "hgvs_c": "c.1448G>T",
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      "phylop100way_score": 9.497,
      "phylop100way_prediction": "Pathogenic",
      "spliceai_max_score": 0.67,
      "spliceai_max_prediction": "Pathogenic",
      "dbscsnv_ada_score": null,
      "dbscsnv_ada_prediction": null,
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": 8,
      "acmg_classification": "Likely_pathogenic",
      "acmg_criteria": "PM1,PM2,PM5,PP2,PP3",
      "acmg_by_gene": [
        {
          "score": 8,
          "benign_score": 0,
          "pathogenic_score": 8,
          "criteria": [
            "PM1",
            "PM2",
            "PM5",
            "PP2",
            "PP3"
          ],
          "verdict": "Likely_pathogenic",
          "transcript": "NM_000128.4",
          "gene_symbol": "F11",
          "hgnc_id": 3529,
          "effects": [
            "missense_variant",
            "splice_region_variant"
          ],
          "inheritance_mode": "AD,AR,SD",
          "hgvs_c": "c.1718G>T",
          "hgvs_p": "p.Gly573Val"
        },
        {
          "score": 3,
          "benign_score": 0,
          "pathogenic_score": 3,
          "criteria": [
            "PM2",
            "PP3"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "ENST00000505103.5",
          "gene_symbol": "F11-AS1",
          "hgnc_id": 27725,
          "effects": [
            "non_coding_transcript_exon_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.979C>A",
          "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
}