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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: 17-63707264-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=63707264&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "17",
      "pos": 63707264,
      "ref": "G",
      "alt": "A",
      "effect": "missense_variant",
      "transcript": "ENST00000336174.12",
      "consequences": [
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STRADA",
          "gene_hgnc_id": 30172,
          "hgvs_c": "c.736C>T",
          "hgvs_p": "p.Pro246Ser",
          "transcript": "NM_001003787.4",
          "protein_id": "NP_001003787.1",
          "transcript_support_level": null,
          "aa_start": 246,
          "aa_end": null,
          "aa_length": 431,
          "cds_start": 736,
          "cds_end": null,
          "cds_length": 1296,
          "cdna_start": 839,
          "cdna_end": null,
          "cdna_length": 2166,
          "mane_select": "ENST00000336174.12",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STRADA",
          "gene_hgnc_id": 30172,
          "hgvs_c": "c.736C>T",
          "hgvs_p": "p.Pro246Ser",
          "transcript": "ENST00000336174.12",
          "protein_id": "ENSP00000336655.6",
          "transcript_support_level": 1,
          "aa_start": 246,
          "aa_end": null,
          "aa_length": 431,
          "cds_start": 736,
          "cds_end": null,
          "cds_length": 1296,
          "cdna_start": 839,
          "cdna_end": null,
          "cdna_length": 2166,
          "mane_select": "NM_001003787.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STRADA",
          "gene_hgnc_id": 30172,
          "hgvs_c": "c.562C>T",
          "hgvs_p": "p.Pro188Ser",
          "transcript": "ENST00000375840.9",
          "protein_id": "ENSP00000365000.4",
          "transcript_support_level": 1,
          "aa_start": 188,
          "aa_end": null,
          "aa_length": 373,
          "cds_start": 562,
          "cds_end": null,
          "cds_length": 1122,
          "cdna_start": 885,
          "cdna_end": null,
          "cdna_length": 2209,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STRADA",
          "gene_hgnc_id": 30172,
          "hgvs_c": "c.625C>T",
          "hgvs_p": "p.Pro209Ser",
          "transcript": "ENST00000392950.9",
          "protein_id": "ENSP00000376677.4",
          "transcript_support_level": 1,
          "aa_start": 209,
          "aa_end": null,
          "aa_length": 348,
          "cds_start": 625,
          "cds_end": null,
          "cds_length": 1047,
          "cdna_start": 915,
          "cdna_end": null,
          "cdna_length": 2778,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STRADA",
          "gene_hgnc_id": 30172,
          "hgvs_c": "c.562C>T",
          "hgvs_p": "p.Pro188Ser",
          "transcript": "ENST00000245865.10",
          "protein_id": "ENSP00000245865.5",
          "transcript_support_level": 1,
          "aa_start": 188,
          "aa_end": null,
          "aa_length": 234,
          "cds_start": 562,
          "cds_end": null,
          "cds_length": 705,
          "cdna_start": 772,
          "cdna_end": null,
          "cdna_length": 2959,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000125695",
          "gene_hgnc_id": null,
          "hgvs_c": "n.*650C>T",
          "hgvs_p": null,
          "transcript": "ENST00000580553.1",
          "protein_id": "ENSP00000464100.1",
          "transcript_support_level": 5,
          "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": 2128,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000125695",
          "gene_hgnc_id": null,
          "hgvs_c": "n.*650C>T",
          "hgvs_p": null,
          "transcript": "ENST00000580553.1",
          "protein_id": "ENSP00000464100.1",
          "transcript_support_level": 5,
          "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": 2128,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STRADA",
          "gene_hgnc_id": 30172,
          "hgvs_c": "c.712C>T",
          "hgvs_p": "p.Pro238Ser",
          "transcript": "NM_001363786.1",
          "protein_id": "NP_001350715.1",
          "transcript_support_level": null,
          "aa_start": 238,
          "aa_end": null,
          "aa_length": 423,
          "cds_start": 712,
          "cds_end": null,
          "cds_length": 1272,
          "cdna_start": 1002,
          "cdna_end": null,
          "cdna_length": 2329,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STRADA",
          "gene_hgnc_id": 30172,
          "hgvs_c": "c.736C>T",
          "hgvs_p": "p.Pro246Ser",
          "transcript": "ENST00000638193.1",
          "protein_id": "ENSP00000491928.1",
          "transcript_support_level": 5,
          "aa_start": 246,
          "aa_end": null,
          "aa_length": 403,
          "cds_start": 736,
          "cds_end": null,
          "cds_length": 1212,
          "cdna_start": 839,
          "cdna_end": null,
          "cdna_length": 1342,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STRADA",
          "gene_hgnc_id": 30172,
          "hgvs_c": "c.649C>T",
          "hgvs_p": "p.Pro217Ser",
          "transcript": "NM_001363787.1",
          "protein_id": "NP_001350716.1",
          "transcript_support_level": null,
          "aa_start": 217,
          "aa_end": null,
          "aa_length": 402,
          "cds_start": 649,
          "cds_end": null,
          "cds_length": 1209,
          "cdna_start": 939,
          "cdna_end": null,
          "cdna_length": 2266,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STRADA",
          "gene_hgnc_id": 30172,
          "hgvs_c": "c.649C>T",
          "hgvs_p": "p.Pro217Ser",
          "transcript": "ENST00000638708.1",
          "protein_id": "ENSP00000491580.1",
          "transcript_support_level": 2,
          "aa_start": 217,
          "aa_end": null,
          "aa_length": 402,
          "cds_start": 649,
          "cds_end": null,
          "cds_length": 1209,
          "cdna_start": 813,
          "cdna_end": null,
          "cdna_length": 2153,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STRADA",
          "gene_hgnc_id": 30172,
          "hgvs_c": "c.625C>T",
          "hgvs_p": "p.Pro209Ser",
          "transcript": "NM_001003786.3",
          "protein_id": "NP_001003786.1",
          "transcript_support_level": null,
          "aa_start": 209,
          "aa_end": null,
          "aa_length": 394,
          "cds_start": 625,
          "cds_end": null,
          "cds_length": 1185,
          "cdna_start": 915,
          "cdna_end": null,
          "cdna_length": 2242,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STRADA",
          "gene_hgnc_id": 30172,
          "hgvs_c": "c.625C>T",
          "hgvs_p": "p.Pro209Ser",
          "transcript": "ENST00000639835.1",
          "protein_id": "ENSP00000492578.1",
          "transcript_support_level": 2,
          "aa_start": 209,
          "aa_end": null,
          "aa_length": 394,
          "cds_start": 625,
          "cds_end": null,
          "cds_length": 1185,
          "cdna_start": 790,
          "cdna_end": null,
          "cdna_length": 2130,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STRADA",
          "gene_hgnc_id": 30172,
          "hgvs_c": "c.625C>T",
          "hgvs_p": "p.Pro209Ser",
          "transcript": "ENST00000640999.1",
          "protein_id": "ENSP00000491643.1",
          "transcript_support_level": 5,
          "aa_start": 209,
          "aa_end": null,
          "aa_length": 394,
          "cds_start": 625,
          "cds_end": null,
          "cds_length": 1185,
          "cdna_start": 1012,
          "cdna_end": null,
          "cdna_length": 2336,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STRADA",
          "gene_hgnc_id": 30172,
          "hgvs_c": "c.562C>T",
          "hgvs_p": "p.Pro188Ser",
          "transcript": "NM_001003788.3",
          "protein_id": "NP_001003788.1",
          "transcript_support_level": null,
          "aa_start": 188,
          "aa_end": null,
          "aa_length": 373,
          "cds_start": 562,
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          "cdna_start": 997,
          "cdna_end": null,
          "cdna_length": 2324,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STRADA",
          "gene_hgnc_id": 30172,
          "hgvs_c": "c.562C>T",
          "hgvs_p": "p.Pro188Ser",
          "transcript": "ENST00000638702.1",
          "protein_id": "ENSP00000491017.1",
          "transcript_support_level": 5,
          "aa_start": 188,
          "aa_end": null,
          "aa_length": 373,
          "cds_start": 562,
          "cds_end": null,
          "cds_length": 1122,
          "cdna_start": 819,
          "cdna_end": null,
          "cdna_length": 2140,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STRADA",
          "gene_hgnc_id": 30172,
          "hgvs_c": "c.625C>T",
          "hgvs_p": "p.Pro209Ser",
          "transcript": "NM_153335.6",
          "protein_id": "NP_699166.2",
          "transcript_support_level": null,
          "aa_start": 209,
          "aa_end": null,
          "aa_length": 348,
          "cds_start": 625,
          "cds_end": null,
          "cds_length": 1047,
          "cdna_start": 915,
          "cdna_end": null,
          "cdna_length": 2788,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STRADA",
          "gene_hgnc_id": 30172,
          "hgvs_c": "c.562C>T",
          "hgvs_p": "p.Pro188Ser",
          "transcript": "ENST00000640979.1",
          "protein_id": "ENSP00000491485.1",
          "transcript_support_level": 5,
          "aa_start": 188,
          "aa_end": null,
          "aa_length": 345,
          "cds_start": 562,
          "cds_end": null,
          "cds_length": 1038,
          "cdna_start": 810,
          "cdna_end": null,
          "cdna_length": 2086,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STRADA",
          "gene_hgnc_id": 30172,
          "hgvs_c": "c.736C>T",
          "hgvs_p": "p.Pro246Ser",
          "transcript": "NM_001363788.1",
          "protein_id": "NP_001350717.1",
          "transcript_support_level": null,
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          "cds_start": 736,
          "cds_end": null,
          "cds_length": 1032,
          "cdna_start": 1026,
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          "cdna_length": 2262,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STRADA",
          "gene_hgnc_id": 30172,
          "hgvs_c": "c.736C>T",
          "hgvs_p": "p.Pro246Ser",
          "transcript": "ENST00000638888.1",
          "protein_id": "ENSP00000491528.1",
          "transcript_support_level": 5,
          "aa_start": 246,
          "aa_end": null,
          "aa_length": 343,
          "cds_start": 736,
          "cds_end": null,
          "cds_length": 1032,
          "cdna_start": 828,
          "cdna_end": null,
          "cdna_length": 1718,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STRADA",
          "gene_hgnc_id": 30172,
          "hgvs_c": "c.736C>T",
          "hgvs_p": "p.Pro246Ser",
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      "computational_source_selected": "MetaRNN",
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      "splice_source_selected": "max_spliceai",
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      "spliceai_max_score": 0,
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      "acmg_score": 2,
      "acmg_classification": "Uncertain_significance",
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          "verdict": "Uncertain_significance",
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          "inheritance_mode": "AR",
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        {
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          "verdict": "Uncertain_significance",
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          "gene_symbol": "ENSG00000125695",
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          "inheritance_mode": "",
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      "clinvar_disease": " and symptomatic epilepsy, megalencephaly,Polyhydramnios",
      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "US:1",
      "phenotype_combined": "Polyhydramnios, megalencephaly, and symptomatic epilepsy",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
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  ],
  "message": null
}