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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: 5-31532322-A-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=31532322&ref=A&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "5",
      "pos": 31532322,
      "ref": "A",
      "alt": "T",
      "effect": "5_prime_UTR_premature_start_codon_gain_variant",
      "transcript": "ENST00000325366.14",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_premature_start_codon_gain_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C5orf22",
          "gene_hgnc_id": 25639,
          "hgvs_c": "c.-71A>T",
          "hgvs_p": null,
          "transcript": "NM_018356.3",
          "protein_id": "NP_060826.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 442,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1329,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3572,
          "mane_select": "ENST00000325366.14",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_premature_start_codon_gain_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C5orf22",
          "gene_hgnc_id": 25639,
          "hgvs_c": "c.-71A>T",
          "hgvs_p": null,
          "transcript": "ENST00000325366.14",
          "protein_id": "ENSP00000326879.9",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 442,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1329,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3572,
          "mane_select": "NM_018356.3",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "5_prime_UTR_premature_start_codon_gain_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C5orf22",
          "gene_hgnc_id": 25639,
          "hgvs_c": "n.-71A>T",
          "hgvs_p": null,
          "transcript": "ENST00000510659.5",
          "protein_id": "ENSP00000423039.1",
          "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": 3117,
          "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": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C5orf22",
          "gene_hgnc_id": 25639,
          "hgvs_c": "n.-71A>T",
          "hgvs_p": null,
          "transcript": "ENST00000510659.5",
          "protein_id": "ENSP00000423039.1",
          "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": 3117,
          "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": "C5orf22",
          "gene_hgnc_id": 25639,
          "hgvs_c": "c.-71A>T",
          "hgvs_p": null,
          "transcript": "NM_018356.3",
          "protein_id": "NP_060826.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 442,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1329,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3572,
          "mane_select": "ENST00000325366.14",
          "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": 1,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C5orf22",
          "gene_hgnc_id": 25639,
          "hgvs_c": "c.-71A>T",
          "hgvs_p": null,
          "transcript": "ENST00000325366.14",
          "protein_id": "ENSP00000326879.9",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 442,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1329,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3572,
          "mane_select": "NM_018356.3",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "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": "C5orf22",
          "gene_hgnc_id": 25639,
          "hgvs_c": "n.-71A>T",
          "hgvs_p": null,
          "transcript": "ENST00000510659.5",
          "protein_id": "ENSP00000423039.1",
          "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": 3117,
          "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_premature_start_codon_gain_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C5orf22",
          "gene_hgnc_id": 25639,
          "hgvs_c": "c.-71A>T",
          "hgvs_p": null,
          "transcript": "ENST00000507818.6",
          "protein_id": "ENSP00000430860.1",
          "transcript_support_level": 4,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 155,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 470,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 568,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "5_prime_UTR_premature_start_codon_gain_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C5orf22",
          "gene_hgnc_id": 25639,
          "hgvs_c": "n.-71A>T",
          "hgvs_p": null,
          "transcript": "ENST00000504464.5",
          "protein_id": "ENSP00000430261.1",
          "transcript_support_level": 3,
          "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": 914,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "5_prime_UTR_premature_start_codon_gain_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C5orf22",
          "gene_hgnc_id": 25639,
          "hgvs_c": "n.-71A>T",
          "hgvs_p": null,
          "transcript": "ENST00000511208.2",
          "protein_id": "ENSP00000428898.1",
          "transcript_support_level": 3,
          "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": 583,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "5_prime_UTR_premature_start_codon_gain_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C5orf22",
          "gene_hgnc_id": 25639,
          "hgvs_c": "n.-71A>T",
          "hgvs_p": null,
          "transcript": "ENST00000513967.5",
          "protein_id": "ENSP00000421667.1",
          "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": 978,
          "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_premature_start_codon_gain_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C5orf22",
          "gene_hgnc_id": 25639,
          "hgvs_c": "c.-71A>T",
          "hgvs_p": null,
          "transcript": "XM_017009607.2",
          "protein_id": "XP_016865096.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 539,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1620,
          "cdna_start": null,
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          "cdna_length": 3863,
          "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_premature_start_codon_gain_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C5orf22",
          "gene_hgnc_id": 25639,
          "hgvs_c": "c.-71A>T",
          "hgvs_p": null,
          "transcript": "XM_017009608.3",
          "protein_id": "XP_016865097.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 508,
          "cds_start": -4,
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          "cds_length": 1527,
          "cdna_start": null,
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          "cdna_length": 3770,
          "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_premature_start_codon_gain_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C5orf22",
          "gene_hgnc_id": 25639,
          "hgvs_c": "c.-71A>T",
          "hgvs_p": null,
          "transcript": "XM_011514062.4",
          "protein_id": "XP_011512364.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 473,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1422,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3665,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
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          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
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          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C5orf22",
          "gene_hgnc_id": 25639,
          "hgvs_c": "n.-71A>T",
          "hgvs_p": null,
          "transcript": "ENST00000504464.5",
          "protein_id": "ENSP00000430261.1",
          "transcript_support_level": 3,
          "aa_start": null,
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          "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": 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": "C5orf22",
          "gene_hgnc_id": 25639,
          "hgvs_c": "n.-71A>T",
          "hgvs_p": null,
          "transcript": "ENST00000511208.2",
          "protein_id": "ENSP00000428898.1",
          "transcript_support_level": 3,
          "aa_start": null,
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          "aa_length": null,
          "cds_start": -4,
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          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 583,
          "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": "C5orf22",
          "gene_hgnc_id": 25639,
          "hgvs_c": "n.-71A>T",
          "hgvs_p": null,
          "transcript": "ENST00000513967.5",
          "protein_id": "ENSP00000421667.1",
          "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": 978,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C5orf22",
          "gene_hgnc_id": 25639,
          "hgvs_c": "n.28A>T",
          "hgvs_p": null,
          "transcript": "ENST00000515409.5",
          "protein_id": null,
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": 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": 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": "C5orf22",
          "gene_hgnc_id": 25639,
          "hgvs_c": "n.28A>T",
          "hgvs_p": null,
          "transcript": "ENST00000517780.1",
          "protein_id": null,
          "transcript_support_level": 3,
          "aa_start": null,
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          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 810,
          "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": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C5orf22",
          "gene_hgnc_id": 25639,
          "hgvs_c": "n.22A>T",
          "hgvs_p": null,
          "transcript": "NR_134298.2",
          "protein_id": null,
          "transcript_support_level": null,
          "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": 3348,
          "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": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C5orf22",
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      "clinvar_disease": "",
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}