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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: 15-77028639-A-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=77028639&ref=A&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "15",
      "pos": 77028639,
      "ref": "A",
      "alt": "G",
      "effect": "missense_variant",
      "transcript": "ENST00000558012.6",
      "consequences": [
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PSTPIP1",
          "gene_hgnc_id": 9580,
          "hgvs_c": "c.503A>G",
          "hgvs_p": "p.Lys168Arg",
          "transcript": "NM_003978.5",
          "protein_id": "NP_003969.2",
          "transcript_support_level": null,
          "aa_start": 168,
          "aa_end": null,
          "aa_length": 416,
          "cds_start": 503,
          "cds_end": null,
          "cds_length": 1251,
          "cdna_start": 951,
          "cdna_end": null,
          "cdna_length": 1998,
          "mane_select": "ENST00000558012.6",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PSTPIP1",
          "gene_hgnc_id": 9580,
          "hgvs_c": "c.503A>G",
          "hgvs_p": "p.Lys168Arg",
          "transcript": "ENST00000558012.6",
          "protein_id": "ENSP00000452746.1",
          "transcript_support_level": 1,
          "aa_start": 168,
          "aa_end": null,
          "aa_length": 416,
          "cds_start": 503,
          "cds_end": null,
          "cds_length": 1251,
          "cdna_start": 951,
          "cdna_end": null,
          "cdna_length": 1998,
          "mane_select": "NM_003978.5",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PSTPIP1",
          "gene_hgnc_id": 9580,
          "hgvs_c": "c.503A>G",
          "hgvs_p": "p.Lys168Arg",
          "transcript": "ENST00000559295.5",
          "protein_id": "ENSP00000452743.1",
          "transcript_support_level": 1,
          "aa_start": 168,
          "aa_end": null,
          "aa_length": 397,
          "cds_start": 503,
          "cds_end": null,
          "cds_length": 1194,
          "cdna_start": 503,
          "cdna_end": null,
          "cdna_length": 1349,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PSTPIP1",
          "gene_hgnc_id": 9580,
          "hgvs_c": "n.698A>G",
          "hgvs_p": null,
          "transcript": "ENST00000559785.5",
          "protein_id": "ENSP00000452986.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1715,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PSTPIP1",
          "gene_hgnc_id": 9580,
          "hgvs_c": "n.*605A>G",
          "hgvs_p": null,
          "transcript": "ENST00000560223.5",
          "protein_id": "ENSP00000454118.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1962,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PSTPIP1",
          "gene_hgnc_id": 9580,
          "hgvs_c": "n.*201A>G",
          "hgvs_p": null,
          "transcript": "ENST00000560796.5",
          "protein_id": "ENSP00000454127.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 966,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PSTPIP1",
          "gene_hgnc_id": 9580,
          "hgvs_c": "n.*605A>G",
          "hgvs_p": null,
          "transcript": "ENST00000560223.5",
          "protein_id": "ENSP00000454118.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1962,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PSTPIP1",
          "gene_hgnc_id": 9580,
          "hgvs_c": "n.*201A>G",
          "hgvs_p": null,
          "transcript": "ENST00000560796.5",
          "protein_id": "ENSP00000454127.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 966,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PSTPIP1",
          "gene_hgnc_id": 9580,
          "hgvs_c": "c.698A>G",
          "hgvs_p": "p.Lys233Arg",
          "transcript": "NM_001321137.1",
          "protein_id": "NP_001308066.1",
          "transcript_support_level": null,
          "aa_start": 233,
          "aa_end": null,
          "aa_length": 481,
          "cds_start": 698,
          "cds_end": null,
          "cds_length": 1446,
          "cdna_start": 808,
          "cdna_end": null,
          "cdna_length": 1855,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PSTPIP1",
          "gene_hgnc_id": 9580,
          "hgvs_c": "c.503A>G",
          "hgvs_p": "p.Lys168Arg",
          "transcript": "NM_001411086.1",
          "protein_id": "NP_001398015.1",
          "transcript_support_level": null,
          "aa_start": 168,
          "aa_end": null,
          "aa_length": 413,
          "cds_start": 503,
          "cds_end": null,
          "cds_length": 1242,
          "cdna_start": 951,
          "cdna_end": null,
          "cdna_length": 1846,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PSTPIP1",
          "gene_hgnc_id": 9580,
          "hgvs_c": "c.503A>G",
          "hgvs_p": "p.Lys168Arg",
          "transcript": "ENST00000379595.7",
          "protein_id": "ENSP00000368914.3",
          "transcript_support_level": 5,
          "aa_start": 168,
          "aa_end": null,
          "aa_length": 413,
          "cds_start": 503,
          "cds_end": null,
          "cds_length": 1242,
          "cdna_start": 946,
          "cdna_end": null,
          "cdna_length": 1840,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PSTPIP1",
          "gene_hgnc_id": 9580,
          "hgvs_c": "c.476A>G",
          "hgvs_p": "p.Lys159Arg",
          "transcript": "NM_001321136.2",
          "protein_id": "NP_001308065.1",
          "transcript_support_level": null,
          "aa_start": 159,
          "aa_end": null,
          "aa_length": 407,
          "cds_start": 476,
          "cds_end": null,
          "cds_length": 1224,
          "cdna_start": 1170,
          "cdna_end": null,
          "cdna_length": 2217,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PSTPIP1",
          "gene_hgnc_id": 9580,
          "hgvs_c": "c.503A>G",
          "hgvs_p": "p.Lys168Arg",
          "transcript": "NM_001321135.2",
          "protein_id": "NP_001308064.1",
          "transcript_support_level": null,
          "aa_start": 168,
          "aa_end": null,
          "aa_length": 397,
          "cds_start": 503,
          "cds_end": null,
          "cds_length": 1194,
          "cdna_start": 951,
          "cdna_end": null,
          "cdna_length": 1941,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PSTPIP1",
          "gene_hgnc_id": 9580,
          "hgvs_c": "c.422A>G",
          "hgvs_p": "p.Lys141Arg",
          "transcript": "ENST00000559856.1",
          "protein_id": "ENSP00000453382.1",
          "transcript_support_level": 3,
          "aa_start": 141,
          "aa_end": null,
          "aa_length": 251,
          "cds_start": 422,
          "cds_end": null,
          "cds_length": 756,
          "cdna_start": 422,
          "cdna_end": null,
          "cdna_length": 756,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PSTPIP1",
          "gene_hgnc_id": 9580,
          "hgvs_c": "c.503A>G",
          "hgvs_p": "p.Lys168Arg",
          "transcript": "ENST00000559161.5",
          "protein_id": "ENSP00000453372.1",
          "transcript_support_level": 3,
          "aa_start": 168,
          "aa_end": null,
          "aa_length": 207,
          "cds_start": 503,
          "cds_end": null,
          "cds_length": 626,
          "cdna_start": 658,
          "cdna_end": null,
          "cdna_length": 781,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PSTPIP1",
          "gene_hgnc_id": 9580,
          "hgvs_c": "c.560A>G",
          "hgvs_p": "p.Lys187Arg",
          "transcript": "XM_011522168.4",
          "protein_id": "XP_011520470.1",
          "transcript_support_level": null,
          "aa_start": 187,
          "aa_end": null,
          "aa_length": 435,
          "cds_start": 560,
          "cds_end": null,
          "cds_length": 1308,
          "cdna_start": 1008,
          "cdna_end": null,
          "cdna_length": 2055,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PSTPIP1",
          "gene_hgnc_id": 9580,
          "hgvs_c": "c.560A>G",
          "hgvs_p": "p.Lys187Arg",
          "transcript": "XM_011522163.3",
          "protein_id": "XP_011520465.1",
          "transcript_support_level": null,
          "aa_start": 187,
          "aa_end": null,
          "aa_length": 432,
          "cds_start": 560,
          "cds_end": null,
          "cds_length": 1299,
          "cdna_start": 1008,
          "cdna_end": null,
          "cdna_length": 2046,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PSTPIP1",
          "gene_hgnc_id": 9580,
          "hgvs_c": "c.560A>G",
          "hgvs_p": "p.Lys187Arg",
          "transcript": "XM_047433276.1",
          "protein_id": "XP_047289232.1",
          "transcript_support_level": null,
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          "aa_end": null,
          "aa_length": 371,
          "cds_start": 560,
          "cds_end": null,
          "cds_length": 1116,
          "cdna_start": 1008,
          "cdna_end": null,
          "cdna_length": 1650,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PSTPIP1",
          "gene_hgnc_id": 9580,
          "hgvs_c": "c.356A>G",
          "hgvs_p": "p.Lys119Arg",
          "transcript": "XM_011522165.3",
          "protein_id": "XP_011520467.1",
          "transcript_support_level": null,
          "aa_start": 119,
          "aa_end": null,
          "aa_length": 367,
          "cds_start": 356,
          "cds_end": null,
          "cds_length": 1104,
          "cdna_start": 566,
          "cdna_end": null,
          "cdna_length": 1613,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PSTPIP1",
          "gene_hgnc_id": 9580,
          "hgvs_c": "c.560A>G",
          "hgvs_p": "p.Lys187Arg",
          "transcript": "XM_011522166.2",
          "protein_id": "XP_011520468.1",
          "transcript_support_level": null,
          "aa_start": 187,
          "aa_end": null,
          "aa_length": 358,
          "cds_start": 560,
          "cds_end": null,
          "cds_length": 1077,
          "cdna_start": 1008,
          "cdna_end": null,
          "cdna_length": 1617,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PSTPIP1",
          "gene_hgnc_id": 9580,
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      "bayesdelnoaf_score": -0.27,
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      "phylop100way_prediction": "Uncertain_significance",
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      "acmg_classification": "Likely_benign",
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      "clinvar_disease": "Hyperzincemia and hypercalprotectinemia,Pyogenic arthritis-pyoderma gangrenosum-acne syndrome",
      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
      "clinvar_submissions_summary": "US:2",
      "phenotype_combined": "Pyogenic arthritis-pyoderma gangrenosum-acne syndrome|Hyperzincemia and hypercalprotectinemia;Pyogenic arthritis-pyoderma gangrenosum-acne syndrome",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
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  "message": null
}