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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: 12-30715108-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=30715108&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "12",
      "pos": 30715108,
      "ref": "C",
      "alt": "T",
      "effect": "missense_variant",
      "transcript": "NM_001002259.3",
      "consequences": [
        {
          "aa_ref": "S",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CAPRIN2",
          "gene_hgnc_id": 21259,
          "hgvs_c": "c.2255G>A",
          "hgvs_p": "p.Ser752Asn",
          "transcript": "NM_001385503.1",
          "protein_id": "NP_001372432.1",
          "transcript_support_level": null,
          "aa_start": 752,
          "aa_end": null,
          "aa_length": 1045,
          "cds_start": 2255,
          "cds_end": null,
          "cds_length": 3138,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000695402.1",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001385503.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "N",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CAPRIN2",
          "gene_hgnc_id": 21259,
          "hgvs_c": "c.2255G>A",
          "hgvs_p": "p.Ser752Asn",
          "transcript": "ENST00000695402.1",
          "protein_id": "ENSP00000511883.1",
          "transcript_support_level": null,
          "aa_start": 752,
          "aa_end": null,
          "aa_length": 1045,
          "cds_start": 2255,
          "cds_end": null,
          "cds_length": 3138,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001385503.1",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000695402.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CAPRIN2",
          "gene_hgnc_id": 21259,
          "hgvs_c": "c.2351G>A",
          "hgvs_p": "p.Ser784Asn",
          "transcript": "ENST00000298892.9",
          "protein_id": "ENSP00000298892.5",
          "transcript_support_level": 1,
          "aa_start": 784,
          "aa_end": null,
          "aa_length": 1077,
          "cds_start": 2351,
          "cds_end": null,
          "cds_length": 3234,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000298892.9"
        },
        {
          "aa_ref": "S",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CAPRIN2",
          "gene_hgnc_id": 21259,
          "hgvs_c": "c.2498G>A",
          "hgvs_p": "p.Ser833Asn",
          "transcript": "ENST00000417045.5",
          "protein_id": "ENSP00000391479.1",
          "transcript_support_level": 1,
          "aa_start": 833,
          "aa_end": null,
          "aa_length": 960,
          "cds_start": 2498,
          "cds_end": null,
          "cds_length": 2883,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000417045.5"
        },
        {
          "aa_ref": "S",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CAPRIN2",
          "gene_hgnc_id": 21259,
          "hgvs_c": "c.1736G>A",
          "hgvs_p": "p.Ser579Asn",
          "transcript": "ENST00000433722.6",
          "protein_id": "ENSP00000415407.2",
          "transcript_support_level": 1,
          "aa_start": 579,
          "aa_end": null,
          "aa_length": 706,
          "cds_start": 1736,
          "cds_end": null,
          "cds_length": 2121,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000433722.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": 13,
          "intron_rank_end": null,
          "gene_symbol": "CAPRIN2",
          "gene_hgnc_id": 21259,
          "hgvs_c": "c.2360-27G>A",
          "hgvs_p": null,
          "transcript": "ENST00000395805.6",
          "protein_id": "ENSP00000379150.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 905,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2718,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000395805.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CAPRIN2",
          "gene_hgnc_id": 21259,
          "hgvs_c": "n.*1578G>A",
          "hgvs_p": null,
          "transcript": "ENST00000454014.6",
          "protein_id": "ENSP00000403876.2",
          "transcript_support_level": 1,
          "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": "nonsense_mediated_decay",
          "feature": "ENST00000454014.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CAPRIN2",
          "gene_hgnc_id": 21259,
          "hgvs_c": "n.*1581G>A",
          "hgvs_p": null,
          "transcript": "ENST00000548676.5",
          "protein_id": "ENSP00000449139.1",
          "transcript_support_level": 1,
          "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": "nonsense_mediated_decay",
          "feature": "ENST00000548676.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CAPRIN2",
          "gene_hgnc_id": 21259,
          "hgvs_c": "n.*1578G>A",
          "hgvs_p": null,
          "transcript": "ENST00000454014.6",
          "protein_id": "ENSP00000403876.2",
          "transcript_support_level": 1,
          "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": "nonsense_mediated_decay",
          "feature": "ENST00000454014.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CAPRIN2",
          "gene_hgnc_id": 21259,
          "hgvs_c": "n.*1581G>A",
          "hgvs_p": null,
          "transcript": "ENST00000548676.5",
          "protein_id": "ENSP00000449139.1",
          "transcript_support_level": 1,
          "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": "nonsense_mediated_decay",
          "feature": "ENST00000548676.5"
        },
        {
          "aa_ref": "S",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CAPRIN2",
          "gene_hgnc_id": 21259,
          "hgvs_c": "c.2501G>A",
          "hgvs_p": "p.Ser834Asn",
          "transcript": "NM_001002259.3",
          "protein_id": "NP_001002259.1",
          "transcript_support_level": null,
          "aa_start": 834,
          "aa_end": null,
          "aa_length": 1127,
          "cds_start": 2501,
          "cds_end": null,
          "cds_length": 3384,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001002259.3"
        },
        {
          "aa_ref": "S",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CAPRIN2",
          "gene_hgnc_id": 21259,
          "hgvs_c": "c.2501G>A",
          "hgvs_p": "p.Ser834Asn",
          "transcript": "ENST00000687797.1",
          "protein_id": "ENSP00000510623.1",
          "transcript_support_level": null,
          "aa_start": 834,
          "aa_end": null,
          "aa_length": 1127,
          "cds_start": 2501,
          "cds_end": null,
          "cds_length": 3384,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000687797.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CAPRIN2",
          "gene_hgnc_id": 21259,
          "hgvs_c": "c.2498G>A",
          "hgvs_p": "p.Ser833Asn",
          "transcript": "NM_001319843.2",
          "protein_id": "NP_001306772.1",
          "transcript_support_level": null,
          "aa_start": 833,
          "aa_end": null,
          "aa_length": 1126,
          "cds_start": 2498,
          "cds_end": null,
          "cds_length": 3381,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001319843.2"
        },
        {
          "aa_ref": "S",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CAPRIN2",
          "gene_hgnc_id": 21259,
          "hgvs_c": "c.2396G>A",
          "hgvs_p": "p.Ser799Asn",
          "transcript": "NM_001385499.1",
          "protein_id": "NP_001372428.1",
          "transcript_support_level": null,
          "aa_start": 799,
          "aa_end": null,
          "aa_length": 1092,
          "cds_start": 2396,
          "cds_end": null,
          "cds_length": 3279,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001385499.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CAPRIN2",
          "gene_hgnc_id": 21259,
          "hgvs_c": "c.2393G>A",
          "hgvs_p": "p.Ser798Asn",
          "transcript": "NM_001385500.1",
          "protein_id": "NP_001372429.1",
          "transcript_support_level": null,
          "aa_start": 798,
          "aa_end": null,
          "aa_length": 1091,
          "cds_start": 2393,
          "cds_end": null,
          "cds_length": 3276,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001385500.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CAPRIN2",
          "gene_hgnc_id": 21259,
          "hgvs_c": "c.2351G>A",
          "hgvs_p": "p.Ser784Asn",
          "transcript": "NM_023925.5",
          "protein_id": "NP_076414.2",
          "transcript_support_level": null,
          "aa_start": 784,
          "aa_end": null,
          "aa_length": 1077,
          "cds_start": 2351,
          "cds_end": null,
          "cds_length": 3234,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_023925.5"
        },
        {
          "aa_ref": "S",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CAPRIN2",
          "gene_hgnc_id": 21259,
          "hgvs_c": "c.2348G>A",
          "hgvs_p": "p.Ser783Asn",
          "transcript": "ENST00000893350.1",
          "protein_id": "ENSP00000563409.1",
          "transcript_support_level": null,
          "aa_start": 783,
          "aa_end": null,
          "aa_length": 1076,
          "cds_start": 2348,
          "cds_end": null,
          "cds_length": 3231,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000893350.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CAPRIN2",
          "gene_hgnc_id": 21259,
          "hgvs_c": "c.2348G>A",
          "hgvs_p": "p.Ser783Asn",
          "transcript": "ENST00000954221.1",
          "protein_id": "ENSP00000624280.1",
          "transcript_support_level": null,
          "aa_start": 783,
          "aa_end": null,
          "aa_length": 1076,
          "cds_start": 2348,
          "cds_end": null,
          "cds_length": 3231,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000954221.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CAPRIN2",
          "gene_hgnc_id": 21259,
          "hgvs_c": "c.2258G>A",
          "hgvs_p": "p.Ser753Asn",
          "transcript": "NM_001319845.2",
          "protein_id": "NP_001306774.1",
          "transcript_support_level": null,
          "aa_start": 753,
          "aa_end": null,
          "aa_length": 1046,
          "cds_start": 2258,
          "cds_end": null,
          "cds_length": 3141,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001319845.2"
        },
        {
          "aa_ref": "S",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CAPRIN2",
          "gene_hgnc_id": 21259,
          "hgvs_c": "c.2258G>A",
          "hgvs_p": "p.Ser753Asn",
          "transcript": "NM_001319846.2",
          "protein_id": "NP_001306775.1",
          "transcript_support_level": null,
          "aa_start": 753,
          "aa_end": null,
          "aa_length": 1046,
          "cds_start": 2258,
          "cds_end": null,
          "cds_length": 3141,
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      "clinvar_classification": "Uncertain significance",
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      "clinvar_submissions_summary": "US:1",
      "phenotype_combined": "not specified",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
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  "message": null
}