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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: 17-7702407-A-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=7702407&ref=A&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "17",
      "pos": 7702407,
      "ref": "A",
      "alt": "G",
      "effect": "missense_variant",
      "transcript": "NM_018081.2",
      "consequences": [
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WRAP53",
          "gene_hgnc_id": 25522,
          "hgvs_c": "c.1019A>G",
          "hgvs_p": "p.Tyr340Cys",
          "transcript": "NM_001143992.2",
          "protein_id": "NP_001137464.1",
          "transcript_support_level": null,
          "aa_start": 340,
          "aa_end": null,
          "aa_length": 548,
          "cds_start": 1019,
          "cds_end": null,
          "cds_length": 1647,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000396463.7",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001143992.2"
        },
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WRAP53",
          "gene_hgnc_id": 25522,
          "hgvs_c": "c.1019A>G",
          "hgvs_p": "p.Tyr340Cys",
          "transcript": "ENST00000396463.7",
          "protein_id": "ENSP00000379727.3",
          "transcript_support_level": 1,
          "aa_start": 340,
          "aa_end": null,
          "aa_length": 548,
          "cds_start": 1019,
          "cds_end": null,
          "cds_length": 1647,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001143992.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000396463.7"
        },
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WRAP53",
          "gene_hgnc_id": 25522,
          "hgvs_c": "c.1019A>G",
          "hgvs_p": "p.Tyr340Cys",
          "transcript": "ENST00000316024.9",
          "protein_id": "ENSP00000324203.5",
          "transcript_support_level": 1,
          "aa_start": 340,
          "aa_end": null,
          "aa_length": 548,
          "cds_start": 1019,
          "cds_end": null,
          "cds_length": 1647,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000316024.9"
        },
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WRAP53",
          "gene_hgnc_id": 25522,
          "hgvs_c": "c.1019A>G",
          "hgvs_p": "p.Tyr340Cys",
          "transcript": "ENST00000431639.6",
          "protein_id": "ENSP00000397219.2",
          "transcript_support_level": 1,
          "aa_start": 340,
          "aa_end": null,
          "aa_length": 548,
          "cds_start": 1019,
          "cds_end": null,
          "cds_length": 1647,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000431639.6"
        },
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WRAP53",
          "gene_hgnc_id": 25522,
          "hgvs_c": "c.1019A>G",
          "hgvs_p": "p.Tyr340Cys",
          "transcript": "ENST00000457584.6",
          "protein_id": "ENSP00000411061.2",
          "transcript_support_level": 1,
          "aa_start": 340,
          "aa_end": null,
          "aa_length": 548,
          "cds_start": 1019,
          "cds_end": null,
          "cds_length": 1647,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000457584.6"
        },
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WRAP53",
          "gene_hgnc_id": 25522,
          "hgvs_c": "c.920A>G",
          "hgvs_p": "p.Tyr307Cys",
          "transcript": "ENST00000534050.5",
          "protein_id": "ENSP00000434999.1",
          "transcript_support_level": 1,
          "aa_start": 307,
          "aa_end": null,
          "aa_length": 515,
          "cds_start": 920,
          "cds_end": null,
          "cds_length": 1548,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000534050.5"
        },
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WRAP53",
          "gene_hgnc_id": 25522,
          "hgvs_c": "c.1184A>G",
          "hgvs_p": "p.Tyr395Cys",
          "transcript": "ENST00000932535.1",
          "protein_id": "ENSP00000602594.1",
          "transcript_support_level": null,
          "aa_start": 395,
          "aa_end": null,
          "aa_length": 603,
          "cds_start": 1184,
          "cds_end": null,
          "cds_length": 1812,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000932535.1"
        },
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WRAP53",
          "gene_hgnc_id": 25522,
          "hgvs_c": "c.1037A>G",
          "hgvs_p": "p.Tyr346Cys",
          "transcript": "ENST00000868854.1",
          "protein_id": "ENSP00000538913.1",
          "transcript_support_level": null,
          "aa_start": 346,
          "aa_end": null,
          "aa_length": 554,
          "cds_start": 1037,
          "cds_end": null,
          "cds_length": 1665,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000868854.1"
        },
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WRAP53",
          "gene_hgnc_id": 25522,
          "hgvs_c": "c.1037A>G",
          "hgvs_p": "p.Tyr346Cys",
          "transcript": "ENST00000932533.1",
          "protein_id": "ENSP00000602592.1",
          "transcript_support_level": null,
          "aa_start": 346,
          "aa_end": null,
          "aa_length": 554,
          "cds_start": 1037,
          "cds_end": null,
          "cds_length": 1665,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000932533.1"
        },
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WRAP53",
          "gene_hgnc_id": 25522,
          "hgvs_c": "c.1019A>G",
          "hgvs_p": "p.Tyr340Cys",
          "transcript": "NM_001143990.2",
          "protein_id": "NP_001137462.1",
          "transcript_support_level": null,
          "aa_start": 340,
          "aa_end": null,
          "aa_length": 548,
          "cds_start": 1019,
          "cds_end": null,
          "cds_length": 1647,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001143990.2"
        },
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WRAP53",
          "gene_hgnc_id": 25522,
          "hgvs_c": "c.1019A>G",
          "hgvs_p": "p.Tyr340Cys",
          "transcript": "NM_001143991.2",
          "protein_id": "NP_001137463.1",
          "transcript_support_level": null,
          "aa_start": 340,
          "aa_end": null,
          "aa_length": 548,
          "cds_start": 1019,
          "cds_end": null,
          "cds_length": 1647,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001143991.2"
        },
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WRAP53",
          "gene_hgnc_id": 25522,
          "hgvs_c": "c.1019A>G",
          "hgvs_p": "p.Tyr340Cys",
          "transcript": "NM_018081.2",
          "protein_id": "NP_060551.2",
          "transcript_support_level": null,
          "aa_start": 340,
          "aa_end": null,
          "aa_length": 548,
          "cds_start": 1019,
          "cds_end": null,
          "cds_length": 1647,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_018081.2"
        },
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WRAP53",
          "gene_hgnc_id": 25522,
          "hgvs_c": "c.968A>G",
          "hgvs_p": "p.Tyr323Cys",
          "transcript": "ENST00000932534.1",
          "protein_id": "ENSP00000602593.1",
          "transcript_support_level": null,
          "aa_start": 323,
          "aa_end": null,
          "aa_length": 531,
          "cds_start": 968,
          "cds_end": null,
          "cds_length": 1596,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000932534.1"
        },
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WRAP53",
          "gene_hgnc_id": 25522,
          "hgvs_c": "c.962A>G",
          "hgvs_p": "p.Tyr321Cys",
          "transcript": "ENST00000868853.1",
          "protein_id": "ENSP00000538912.1",
          "transcript_support_level": null,
          "aa_start": 321,
          "aa_end": null,
          "aa_length": 529,
          "cds_start": 962,
          "cds_end": null,
          "cds_length": 1590,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000868853.1"
        },
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WRAP53",
          "gene_hgnc_id": 25522,
          "hgvs_c": "c.920A>G",
          "hgvs_p": "p.Tyr307Cys",
          "transcript": "ENST00000964568.1",
          "protein_id": "ENSP00000634627.1",
          "transcript_support_level": null,
          "aa_start": 307,
          "aa_end": null,
          "aa_length": 515,
          "cds_start": 920,
          "cds_end": null,
          "cds_length": 1548,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000964568.1"
        },
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WRAP53",
          "gene_hgnc_id": 25522,
          "hgvs_c": "c.1019A>G",
          "hgvs_p": "p.Tyr340Cys",
          "transcript": "ENST00000698746.1",
          "protein_id": "ENSP00000513908.1",
          "transcript_support_level": null,
          "aa_start": 340,
          "aa_end": null,
          "aa_length": 503,
          "cds_start": 1019,
          "cds_end": null,
          "cds_length": 1512,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000698746.1"
        },
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WRAP53",
          "gene_hgnc_id": 25522,
          "hgvs_c": "c.1019A>G",
          "hgvs_p": "p.Tyr340Cys",
          "transcript": "ENST00000698742.1",
          "protein_id": "ENSP00000513904.1",
          "transcript_support_level": null,
          "aa_start": 340,
          "aa_end": null,
          "aa_length": 469,
          "cds_start": 1019,
          "cds_end": null,
          "cds_length": 1410,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000698742.1"
        },
        {
          "aa_ref": "Y",
          "aa_alt": "C",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WRAP53",
          "gene_hgnc_id": 25522,
          "hgvs_c": "c.611A>G",
          "hgvs_p": "p.Tyr204Cys",
          "transcript": "ENST00000698747.1",
          "protein_id": "ENSP00000513909.1",
          "transcript_support_level": null,
          "aa_start": 204,
          "aa_end": null,
          "aa_length": 412,
          "cds_start": 611,
          "cds_end": null,
          "cds_length": 1239,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000698747.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WRAP53",
          "gene_hgnc_id": 25522,
          "hgvs_c": "n.1691A>G",
          "hgvs_p": null,
          "transcript": "ENST00000467699.5",
          "protein_id": null,
          "transcript_support_level": 5,
          "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": "retained_intron",
          "feature": "ENST00000467699.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "WRAP53",
          "gene_hgnc_id": 25522,
          "hgvs_c": "n.290A>G",
          "hgvs_p": null,
          "transcript": "ENST00000471973.6",
          "protein_id": null,
          "transcript_support_level": 3,
          "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,
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        },
        {
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          ],
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          "gene_symbol": "WRAP53",
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          "hgvs_c": "n.134-336A>G",
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          "transcript": "ENST00000463804.6",
          "protein_id": "ENSP00000465025.1",
          "transcript_support_level": 3,
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          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000463804.6"
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      ],
      "gene_symbol": "WRAP53",
      "gene_hgnc_id": 25522,
      "dbsnp": "rs1555530889",
      "frequency_reference_population": null,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 0,
      "gnomad_exomes_af": null,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": null,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": null,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.8329943418502808,
      "computational_prediction_selected": "Pathogenic",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0.009999999776482582,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.544,
      "revel_prediction": "Uncertain_significance",
      "alphamissense_score": 0.5837,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": 0.15,
      "bayesdelnoaf_prediction": "Pathogenic",
      "phylop100way_score": 4.783,
      "phylop100way_prediction": "Uncertain_significance",
      "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": 3,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PM2,PP3",
      "acmg_by_gene": [
        {
          "score": 3,
          "benign_score": 0,
          "pathogenic_score": 3,
          "criteria": [
            "PM2",
            "PP3"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "NM_018081.2",
          "gene_symbol": "WRAP53",
          "hgnc_id": 25522,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AR,AD",
          "hgvs_c": "c.1019A>G",
          "hgvs_p": "p.Tyr340Cys"
        }
      ],
      "clinvar_disease": "not specified",
      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "US:1",
      "phenotype_combined": "not specified",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
    }
  ],
  "message": null
}