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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: 19-19192993-T-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=19192993&ref=T&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "19",
      "pos": 19192993,
      "ref": "T",
      "alt": "G",
      "effect": "5_prime_UTR_variant",
      "transcript": "NM_003721.4",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RFXANK",
          "gene_hgnc_id": 9987,
          "hgvs_c": "c.-116T>G",
          "hgvs_p": null,
          "transcript": "NM_003721.4",
          "protein_id": "NP_003712.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 260,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 783,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1376,
          "mane_select": "ENST00000303088.9",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RFXANK",
          "gene_hgnc_id": 9987,
          "hgvs_c": "c.-116T>G",
          "hgvs_p": null,
          "transcript": "ENST00000303088.9",
          "protein_id": "ENSP00000305071.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 260,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 783,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1376,
          "mane_select": "NM_003721.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RFXANK",
          "gene_hgnc_id": 9987,
          "hgvs_c": "c.-116T>G",
          "hgvs_p": null,
          "transcript": "ENST00000407360.7",
          "protein_id": "ENSP00000384572.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 260,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 783,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1212,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RFXANK",
          "gene_hgnc_id": 9987,
          "hgvs_c": "c.-116T>G",
          "hgvs_p": null,
          "transcript": "ENST00000456252.7",
          "protein_id": "ENSP00000409138.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 238,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 717,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1325,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RFXANK",
          "gene_hgnc_id": 9987,
          "hgvs_c": "c.-116T>G",
          "hgvs_p": null,
          "transcript": "ENST00000392324.8",
          "protein_id": "ENSP00000376138.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 237,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 714,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1059,
          "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": 1,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RFXANK",
          "gene_hgnc_id": 9987,
          "hgvs_c": "n.81T>G",
          "hgvs_p": null,
          "transcript": "ENST00000541873.6",
          "protein_id": null,
          "transcript_support_level": 2,
          "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": 1002,
          "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": 1,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RFXANK",
          "gene_hgnc_id": 9987,
          "hgvs_c": "n.148T>G",
          "hgvs_p": null,
          "transcript": "ENST00000543157.7",
          "protein_id": null,
          "transcript_support_level": 2,
          "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": 919,
          "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": 1,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RFXANK",
          "gene_hgnc_id": 9987,
          "hgvs_c": "n.24T>G",
          "hgvs_p": null,
          "transcript": "ENST00000545522.2",
          "protein_id": null,
          "transcript_support_level": 2,
          "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": 888,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RFXANK",
          "gene_hgnc_id": 9987,
          "hgvs_c": "c.-116T>G",
          "hgvs_p": null,
          "transcript": "NM_001370238.1",
          "protein_id": "NP_001357167.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 285,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 858,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1179,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RFXANK",
          "gene_hgnc_id": 9987,
          "hgvs_c": "c.-116T>G",
          "hgvs_p": null,
          "transcript": "NM_001370237.1",
          "protein_id": "NP_001357166.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 284,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 855,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1176,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RFXANK",
          "gene_hgnc_id": 9987,
          "hgvs_c": "c.-116T>G",
          "hgvs_p": null,
          "transcript": "NM_001370233.1",
          "protein_id": "NP_001357162.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 260,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 783,
          "cdna_start": null,
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          "cdna_length": 1104,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RFXANK",
          "gene_hgnc_id": 9987,
          "hgvs_c": "c.-116T>G",
          "hgvs_p": null,
          "transcript": "NM_001370235.1",
          "protein_id": "NP_001357164.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 259,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 780,
          "cdna_start": null,
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          "cdna_length": 1352,
          "mane_select": null,
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        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RFXANK",
          "gene_hgnc_id": 9987,
          "hgvs_c": "c.-116T>G",
          "hgvs_p": null,
          "transcript": "NM_001370236.1",
          "protein_id": "NP_001357165.1",
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          "aa_start": null,
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          "aa_length": 259,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 780,
          "cdna_start": null,
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          "cdna_length": 1101,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 2,
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          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RFXANK",
          "gene_hgnc_id": 9987,
          "hgvs_c": "c.-116T>G",
          "hgvs_p": null,
          "transcript": "NM_001278727.2",
          "protein_id": "NP_001265656.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 238,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 717,
          "cdna_start": null,
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RFXANK",
          "gene_hgnc_id": 9987,
          "hgvs_c": "c.-116T>G",
          "hgvs_p": null,
          "transcript": "NM_001370234.1",
          "protein_id": "NP_001357163.1",
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        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
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          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RFXANK",
          "gene_hgnc_id": 9987,
          "hgvs_c": "c.-116T>G",
          "hgvs_p": null,
          "transcript": "NM_001278728.2",
          "protein_id": "NP_001265657.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 237,
          "cds_start": -4,
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          "cds_length": 714,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1035,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RFXANK",
          "gene_hgnc_id": 9987,
          "hgvs_c": "c.-116T>G",
          "hgvs_p": null,
          "transcript": "NM_134440.3",
          "protein_id": "NP_604389.1",
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          "aa_end": null,
          "aa_length": 237,
          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 1307,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RFXANK",
          "gene_hgnc_id": 9987,
          "hgvs_c": "c.-116T>G",
          "hgvs_p": null,
          "transcript": "ENST00000540981.5",
          "protein_id": "ENSP00000440325.2",
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          "cds_start": -4,
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        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RFXANK",
          "gene_hgnc_id": 9987,
          "hgvs_c": "c.-116T>G",
          "hgvs_p": null,
          "transcript": "ENST00000593273.5",
          "protein_id": "ENSP00000466913.1",
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        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 2,
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          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RFXANK",
          "gene_hgnc_id": 9987,
          "hgvs_c": "c.-116T>G",
          "hgvs_p": null,
          "transcript": "ENST00000421262.7",
          "protein_id": "ENSP00000393159.3",
          "transcript_support_level": 5,
          "aa_start": null,
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          "cds_start": -4,
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          "cds_length": 250,
          "cdna_start": null,
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          "cdna_length": 856,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RFXANK",
          "gene_hgnc_id": 9987,
          "hgvs_c": "c.-116T>G",
          "hgvs_p": null,
          "transcript": "XM_047439586.1",
          "protein_id": "XP_047295542.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 285,
          "cds_start": -4,
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          "cds_length": 858,
          "cdna_start": null,
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      "clinvar_classification": "",
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}