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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: 15-65259459-C-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=65259459&ref=C&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "15",
      "pos": 65259459,
      "ref": "C",
      "alt": "A",
      "effect": "missense_variant",
      "transcript": "NM_017851.6",
      "consequences": [
        {
          "aa_ref": "S",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PARP16",
          "gene_hgnc_id": 26040,
          "hgvs_c": "c.917G>T",
          "hgvs_p": "p.Ser306Ile",
          "transcript": "NM_001316943.2",
          "protein_id": "NP_001303872.1",
          "transcript_support_level": null,
          "aa_start": 306,
          "aa_end": null,
          "aa_length": 322,
          "cds_start": 917,
          "cds_end": null,
          "cds_length": 969,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000649807.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001316943.2"
        },
        {
          "aa_ref": "S",
          "aa_alt": "I",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PARP16",
          "gene_hgnc_id": 26040,
          "hgvs_c": "c.917G>T",
          "hgvs_p": "p.Ser306Ile",
          "transcript": "ENST00000649807.2",
          "protein_id": "ENSP00000496935.1",
          "transcript_support_level": null,
          "aa_start": 306,
          "aa_end": null,
          "aa_length": 322,
          "cds_start": 917,
          "cds_end": null,
          "cds_length": 969,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001316943.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000649807.2"
        },
        {
          "aa_ref": "S",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PARP16",
          "gene_hgnc_id": 26040,
          "hgvs_c": "c.920G>T",
          "hgvs_p": "p.Ser307Ile",
          "transcript": "ENST00000261888.10",
          "protein_id": "ENSP00000261888.6",
          "transcript_support_level": 1,
          "aa_start": 307,
          "aa_end": null,
          "aa_length": 323,
          "cds_start": 920,
          "cds_end": null,
          "cds_length": 972,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000261888.10"
        },
        {
          "aa_ref": "S",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PARP16",
          "gene_hgnc_id": 26040,
          "hgvs_c": "c.1034G>T",
          "hgvs_p": "p.Ser345Ile",
          "transcript": "ENST00000906476.1",
          "protein_id": "ENSP00000576535.1",
          "transcript_support_level": null,
          "aa_start": 345,
          "aa_end": null,
          "aa_length": 361,
          "cds_start": 1034,
          "cds_end": null,
          "cds_length": 1086,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000906476.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PARP16",
          "gene_hgnc_id": 26040,
          "hgvs_c": "c.953G>T",
          "hgvs_p": "p.Ser318Ile",
          "transcript": "ENST00000966191.1",
          "protein_id": "ENSP00000636250.1",
          "transcript_support_level": null,
          "aa_start": 318,
          "aa_end": null,
          "aa_length": 334,
          "cds_start": 953,
          "cds_end": null,
          "cds_length": 1005,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000966191.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PARP16",
          "gene_hgnc_id": 26040,
          "hgvs_c": "c.920G>T",
          "hgvs_p": "p.Ser307Ile",
          "transcript": "NM_017851.6",
          "protein_id": "NP_060321.3",
          "transcript_support_level": null,
          "aa_start": 307,
          "aa_end": null,
          "aa_length": 323,
          "cds_start": 920,
          "cds_end": null,
          "cds_length": 972,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_017851.6"
        },
        {
          "aa_ref": "S",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PARP16",
          "gene_hgnc_id": 26040,
          "hgvs_c": "c.863G>T",
          "hgvs_p": "p.Ser288Ile",
          "transcript": "ENST00000906477.1",
          "protein_id": "ENSP00000576536.1",
          "transcript_support_level": null,
          "aa_start": 288,
          "aa_end": null,
          "aa_length": 304,
          "cds_start": 863,
          "cds_end": null,
          "cds_length": 915,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000906477.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PARP16",
          "gene_hgnc_id": 26040,
          "hgvs_c": "c.860G>T",
          "hgvs_p": "p.Ser287Ile",
          "transcript": "ENST00000906479.1",
          "protein_id": "ENSP00000576538.1",
          "transcript_support_level": null,
          "aa_start": 287,
          "aa_end": null,
          "aa_length": 303,
          "cds_start": 860,
          "cds_end": null,
          "cds_length": 912,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000906479.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PARP16",
          "gene_hgnc_id": 26040,
          "hgvs_c": "c.782G>T",
          "hgvs_p": "p.Ser261Ile",
          "transcript": "ENST00000906481.1",
          "protein_id": "ENSP00000576540.1",
          "transcript_support_level": null,
          "aa_start": 261,
          "aa_end": null,
          "aa_length": 277,
          "cds_start": 782,
          "cds_end": null,
          "cds_length": 834,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000906481.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PARP16",
          "gene_hgnc_id": 26040,
          "hgvs_c": "c.779G>T",
          "hgvs_p": "p.Ser260Ile",
          "transcript": "ENST00000906478.1",
          "protein_id": "ENSP00000576537.1",
          "transcript_support_level": null,
          "aa_start": 260,
          "aa_end": null,
          "aa_length": 276,
          "cds_start": 779,
          "cds_end": null,
          "cds_length": 831,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000906478.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PARP16",
          "gene_hgnc_id": 26040,
          "hgvs_c": "c.713G>T",
          "hgvs_p": "p.Ser238Ile",
          "transcript": "ENST00000906483.1",
          "protein_id": "ENSP00000576542.1",
          "transcript_support_level": null,
          "aa_start": 238,
          "aa_end": null,
          "aa_length": 254,
          "cds_start": 713,
          "cds_end": null,
          "cds_length": 765,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000906483.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PARP16",
          "gene_hgnc_id": 26040,
          "hgvs_c": "c.653G>T",
          "hgvs_p": "p.Ser218Ile",
          "transcript": "ENST00000906482.1",
          "protein_id": "ENSP00000576541.1",
          "transcript_support_level": null,
          "aa_start": 218,
          "aa_end": null,
          "aa_length": 234,
          "cds_start": 653,
          "cds_end": null,
          "cds_length": 705,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000906482.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PARP16",
          "gene_hgnc_id": 26040,
          "hgvs_c": "c.575G>T",
          "hgvs_p": "p.Ser192Ile",
          "transcript": "ENST00000906480.1",
          "protein_id": "ENSP00000576539.1",
          "transcript_support_level": null,
          "aa_start": 192,
          "aa_end": null,
          "aa_length": 208,
          "cds_start": 575,
          "cds_end": null,
          "cds_length": 627,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000906480.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PARP16",
          "gene_hgnc_id": 26040,
          "hgvs_c": "c.572G>T",
          "hgvs_p": "p.Ser191Ile",
          "transcript": "NM_001316944.2",
          "protein_id": "NP_001303873.1",
          "transcript_support_level": null,
          "aa_start": 191,
          "aa_end": null,
          "aa_length": 207,
          "cds_start": 572,
          "cds_end": null,
          "cds_length": 624,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001316944.2"
        },
        {
          "aa_ref": "S",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PARP16",
          "gene_hgnc_id": 26040,
          "hgvs_c": "c.572G>T",
          "hgvs_p": "p.Ser191Ile",
          "transcript": "ENST00000444347.2",
          "protein_id": "ENSP00000396118.2",
          "transcript_support_level": 2,
          "aa_start": 191,
          "aa_end": null,
          "aa_length": 207,
          "cds_start": 572,
          "cds_end": null,
          "cds_length": 624,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000444347.2"
        },
        {
          "aa_ref": "S",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PARP16",
          "gene_hgnc_id": 26040,
          "hgvs_c": "c.863G>T",
          "hgvs_p": "p.Ser288Ile",
          "transcript": "XM_006720592.4",
          "protein_id": "XP_006720655.1",
          "transcript_support_level": null,
          "aa_start": 288,
          "aa_end": null,
          "aa_length": 304,
          "cds_start": 863,
          "cds_end": null,
          "cds_length": 915,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_006720592.4"
        },
        {
          "aa_ref": "S",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PARP16",
          "gene_hgnc_id": 26040,
          "hgvs_c": "c.860G>T",
          "hgvs_p": "p.Ser287Ile",
          "transcript": "XM_017022386.3",
          "protein_id": "XP_016877875.1",
          "transcript_support_level": null,
          "aa_start": 287,
          "aa_end": null,
          "aa_length": 303,
          "cds_start": 860,
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          "cds_length": 912,
          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "XM_017022386.3"
        },
        {
          "aa_ref": "S",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PARP16",
          "gene_hgnc_id": 26040,
          "hgvs_c": "c.782G>T",
          "hgvs_p": "p.Ser261Ile",
          "transcript": "XM_011521742.4",
          "protein_id": "XP_011520044.1",
          "transcript_support_level": null,
          "aa_start": 261,
          "aa_end": null,
          "aa_length": 277,
          "cds_start": 782,
          "cds_end": null,
          "cds_length": 834,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_011521742.4"
        },
        {
          "aa_ref": "S",
          "aa_alt": "I",
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          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PARP16",
          "gene_hgnc_id": 26040,
          "hgvs_c": "c.779G>T",
          "hgvs_p": "p.Ser260Ile",
          "transcript": "XM_017022387.3",
          "protein_id": "XP_016877876.1",
          "transcript_support_level": null,
          "aa_start": 260,
          "aa_end": null,
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          "cds_start": 779,
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          "cds_length": 831,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_017022387.3"
        },
        {
          "aa_ref": "S",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PARP16",
          "gene_hgnc_id": 26040,
          "hgvs_c": "c.713G>T",
          "hgvs_p": "p.Ser238Ile",
          "transcript": "XM_017022388.3",
          "protein_id": "XP_016877877.1",
          "transcript_support_level": null,
          "aa_start": 238,
          "aa_end": null,
          "aa_length": 254,
          "cds_start": 713,
          "cds_end": null,
          "cds_length": 765,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
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      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
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      "custom_annotations": null
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  "message": null
}