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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: 10-68014084-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=68014084&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "10",
      "pos": 68014084,
      "ref": "G",
      "alt": "A",
      "effect": "synonymous_variant",
      "transcript": "ENST00000373700.9",
      "consequences": [
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC4",
          "gene_hgnc_id": 24521,
          "hgvs_c": "c.1011C>T",
          "hgvs_p": "p.Ser337Ser",
          "transcript": "NM_015601.4",
          "protein_id": "NP_056416.2",
          "transcript_support_level": null,
          "aa_start": 337,
          "aa_end": null,
          "aa_length": 1049,
          "cds_start": 1011,
          "cds_end": null,
          "cds_length": 3150,
          "cdna_start": 1259,
          "cdna_end": null,
          "cdna_length": 4424,
          "mane_select": "ENST00000373700.9",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC4",
          "gene_hgnc_id": 24521,
          "hgvs_c": "c.1011C>T",
          "hgvs_p": "p.Ser337Ser",
          "transcript": "ENST00000373700.9",
          "protein_id": "ENSP00000362804.4",
          "transcript_support_level": 1,
          "aa_start": 337,
          "aa_end": null,
          "aa_length": 1049,
          "cds_start": 1011,
          "cds_end": null,
          "cds_length": 3150,
          "cdna_start": 1259,
          "cdna_end": null,
          "cdna_length": 4424,
          "mane_select": "NM_015601.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC4",
          "gene_hgnc_id": 24521,
          "hgvs_c": "c.1011C>T",
          "hgvs_p": "p.Ser337Ser",
          "transcript": "ENST00000395198.7",
          "protein_id": "ENSP00000378624.3",
          "transcript_support_level": 1,
          "aa_start": 337,
          "aa_end": null,
          "aa_length": 1057,
          "cds_start": 1011,
          "cds_end": null,
          "cds_length": 3174,
          "cdna_start": 1259,
          "cdna_end": null,
          "cdna_length": 4445,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC4",
          "gene_hgnc_id": 24521,
          "hgvs_c": "c.1011C>T",
          "hgvs_p": "p.Ser337Ser",
          "transcript": "ENST00000412272.6",
          "protein_id": "ENSP00000416504.2",
          "transcript_support_level": 1,
          "aa_start": 337,
          "aa_end": null,
          "aa_length": 979,
          "cds_start": 1011,
          "cds_end": null,
          "cds_length": 2940,
          "cdna_start": 1259,
          "cdna_end": null,
          "cdna_length": 4211,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC4",
          "gene_hgnc_id": 24521,
          "hgvs_c": "c.681C>T",
          "hgvs_p": "p.Ser227Ser",
          "transcript": "ENST00000277817.10",
          "protein_id": "ENSP00000277817.6",
          "transcript_support_level": 1,
          "aa_start": 227,
          "aa_end": null,
          "aa_length": 947,
          "cds_start": 681,
          "cds_end": null,
          "cds_length": 2844,
          "cdna_start": 1176,
          "cdna_end": null,
          "cdna_length": 4371,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC4",
          "gene_hgnc_id": 24521,
          "hgvs_c": "n.*405C>T",
          "hgvs_p": null,
          "transcript": "ENST00000473533.6",
          "protein_id": "ENSP00000423671.1",
          "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": 3593,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC4",
          "gene_hgnc_id": 24521,
          "hgvs_c": "n.*405C>T",
          "hgvs_p": null,
          "transcript": "ENST00000473533.6",
          "protein_id": "ENSP00000423671.1",
          "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": 3593,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC4",
          "gene_hgnc_id": 24521,
          "hgvs_c": "c.1011C>T",
          "hgvs_p": "p.Ser337Ser",
          "transcript": "NM_022079.3",
          "protein_id": "NP_071362.1",
          "transcript_support_level": null,
          "aa_start": 337,
          "aa_end": null,
          "aa_length": 1057,
          "cds_start": 1011,
          "cds_end": null,
          "cds_length": 3174,
          "cdna_start": 1259,
          "cdna_end": null,
          "cdna_length": 4448,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC4",
          "gene_hgnc_id": 24521,
          "hgvs_c": "c.1011C>T",
          "hgvs_p": "p.Ser337Ser",
          "transcript": "NM_001278185.2",
          "protein_id": "NP_001265114.1",
          "transcript_support_level": null,
          "aa_start": 337,
          "aa_end": null,
          "aa_length": 979,
          "cds_start": 1011,
          "cds_end": null,
          "cds_length": 2940,
          "cdna_start": 1259,
          "cdna_end": null,
          "cdna_length": 4214,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC4",
          "gene_hgnc_id": 24521,
          "hgvs_c": "c.246C>T",
          "hgvs_p": "p.Ser82Ser",
          "transcript": "NM_001278186.2",
          "protein_id": "NP_001265115.1",
          "transcript_support_level": null,
          "aa_start": 82,
          "aa_end": null,
          "aa_length": 794,
          "cds_start": 246,
          "cds_end": null,
          "cds_length": 2385,
          "cdna_start": 1007,
          "cdna_end": null,
          "cdna_length": 4172,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC4",
          "gene_hgnc_id": 24521,
          "hgvs_c": "c.1083C>T",
          "hgvs_p": "p.Ser361Ser",
          "transcript": "XM_011539592.4",
          "protein_id": "XP_011537894.1",
          "transcript_support_level": null,
          "aa_start": 361,
          "aa_end": null,
          "aa_length": 1081,
          "cds_start": 1083,
          "cds_end": null,
          "cds_length": 3246,
          "cdna_start": 1331,
          "cdna_end": null,
          "cdna_length": 4520,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC4",
          "gene_hgnc_id": 24521,
          "hgvs_c": "c.1083C>T",
          "hgvs_p": "p.Ser361Ser",
          "transcript": "XM_024447927.2",
          "protein_id": "XP_024303695.1",
          "transcript_support_level": null,
          "aa_start": 361,
          "aa_end": null,
          "aa_length": 1081,
          "cds_start": 1083,
          "cds_end": null,
          "cds_length": 3246,
          "cdna_start": 1312,
          "cdna_end": null,
          "cdna_length": 4501,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC4",
          "gene_hgnc_id": 24521,
          "hgvs_c": "c.1083C>T",
          "hgvs_p": "p.Ser361Ser",
          "transcript": "XM_024447928.2",
          "protein_id": "XP_024303696.1",
          "transcript_support_level": null,
          "aa_start": 361,
          "aa_end": null,
          "aa_length": 1081,
          "cds_start": 1083,
          "cds_end": null,
          "cds_length": 3246,
          "cdna_start": 1478,
          "cdna_end": null,
          "cdna_length": 4667,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC4",
          "gene_hgnc_id": 24521,
          "hgvs_c": "c.1083C>T",
          "hgvs_p": "p.Ser361Ser",
          "transcript": "XM_047424990.1",
          "protein_id": "XP_047280946.1",
          "transcript_support_level": null,
          "aa_start": 361,
          "aa_end": null,
          "aa_length": 1081,
          "cds_start": 1083,
          "cds_end": null,
          "cds_length": 3246,
          "cdna_start": 3258,
          "cdna_end": null,
          "cdna_length": 6447,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC4",
          "gene_hgnc_id": 24521,
          "hgvs_c": "c.1083C>T",
          "hgvs_p": "p.Ser361Ser",
          "transcript": "XM_011539593.4",
          "protein_id": "XP_011537895.1",
          "transcript_support_level": null,
          "aa_start": 361,
          "aa_end": null,
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          "cds_start": 1083,
          "cds_end": null,
          "cds_length": 3222,
          "cdna_start": 1331,
          "cdna_end": null,
          "cdna_length": 4496,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC4",
          "gene_hgnc_id": 24521,
          "hgvs_c": "c.1011C>T",
          "hgvs_p": "p.Ser337Ser",
          "transcript": "XM_024447930.2",
          "protein_id": "XP_024303698.1",
          "transcript_support_level": null,
          "aa_start": 337,
          "aa_end": null,
          "aa_length": 1057,
          "cds_start": 1011,
          "cds_end": null,
          "cds_length": 3174,
          "cdna_start": 1753,
          "cdna_end": null,
          "cdna_length": 4942,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC4",
          "gene_hgnc_id": 24521,
          "hgvs_c": "c.1011C>T",
          "hgvs_p": "p.Ser337Ser",
          "transcript": "XM_047424991.1",
          "protein_id": "XP_047280947.1",
          "transcript_support_level": null,
          "aa_start": 337,
          "aa_end": null,
          "aa_length": 1057,
          "cds_start": 1011,
          "cds_end": null,
          "cds_length": 3174,
          "cdna_start": 1406,
          "cdna_end": null,
          "cdna_length": 4595,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC4",
          "gene_hgnc_id": 24521,
          "hgvs_c": "c.1011C>T",
          "hgvs_p": "p.Ser337Ser",
          "transcript": "XM_047424992.1",
          "protein_id": "XP_047280948.1",
          "transcript_support_level": null,
          "aa_start": 337,
          "aa_end": null,
          "aa_length": 1049,
          "cds_start": 1011,
          "cds_end": null,
          "cds_length": 3150,
          "cdna_start": 1240,
          "cdna_end": null,
          "cdna_length": 4405,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC4",
          "gene_hgnc_id": 24521,
          "hgvs_c": "c.1011C>T",
          "hgvs_p": "p.Ser337Ser",
          "transcript": "XM_047424993.1",
          "protein_id": "XP_047280949.1",
          "transcript_support_level": null,
          "aa_start": 337,
          "aa_end": null,
          "aa_length": 1049,
          "cds_start": 1011,
          "cds_end": null,
          "cds_length": 3150,
          "cdna_start": 1406,
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          "cdna_length": 4571,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC4",
          "gene_hgnc_id": 24521,
          "hgvs_c": "c.873C>T",
          "hgvs_p": "p.Ser291Ser",
          "transcript": "XM_047424995.1",
          "protein_id": "XP_047280951.1",
          "transcript_support_level": null,
          "aa_start": 291,
          "aa_end": null,
          "aa_length": 1011,
          "cds_start": 873,
          "cds_end": null,
          "cds_length": 3036,
          "cdna_start": 1078,
          "cdna_end": null,
          "cdna_length": 4267,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HERC4",
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      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
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  "message": null
}