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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: 10-73911531-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=73911531&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "10",
      "pos": 73911531,
      "ref": "C",
      "alt": "T",
      "effect": "5_prime_UTR_premature_start_codon_gain_variant",
      "transcript": "ENST00000372764.4",
      "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": 2,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PLAU",
          "gene_hgnc_id": 9052,
          "hgvs_c": "c.-25C>T",
          "hgvs_p": null,
          "transcript": "NM_002658.6",
          "protein_id": "NP_002649.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 431,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1296,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2343,
          "mane_select": "ENST00000372764.4",
          "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": 2,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PLAU",
          "gene_hgnc_id": 9052,
          "hgvs_c": "c.-25C>T",
          "hgvs_p": null,
          "transcript": "ENST00000372764.4",
          "protein_id": "ENSP00000361850.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 431,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1296,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2343,
          "mane_select": "NM_002658.6",
          "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": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C10orf55",
          "gene_hgnc_id": 31008,
          "hgvs_c": "n.951G>A",
          "hgvs_p": null,
          "transcript": "ENST00000409178.5",
          "protein_id": null,
          "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": 2513,
          "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": "PLAU",
          "gene_hgnc_id": 9052,
          "hgvs_c": "c.-25C>T",
          "hgvs_p": null,
          "transcript": "NM_002658.6",
          "protein_id": "NP_002649.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 431,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1296,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2343,
          "mane_select": "ENST00000372764.4",
          "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": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PLAU",
          "gene_hgnc_id": 9052,
          "hgvs_c": "c.-25C>T",
          "hgvs_p": null,
          "transcript": "ENST00000372764.4",
          "protein_id": "ENSP00000361850.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 431,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1296,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2343,
          "mane_select": "NM_002658.6",
          "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": 3,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PLAU",
          "gene_hgnc_id": 9052,
          "hgvs_c": "c.-25C>T",
          "hgvs_p": null,
          "transcript": "NM_001441154.1",
          "protein_id": "NP_001428083.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 431,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1296,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2634,
          "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": 2,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PLAU",
          "gene_hgnc_id": 9052,
          "hgvs_c": "c.-25C>T",
          "hgvs_p": null,
          "transcript": "NM_001441155.1",
          "protein_id": "NP_001428084.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 431,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1296,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2472,
          "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": 2,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PLAU",
          "gene_hgnc_id": 9052,
          "hgvs_c": "c.-25C>T",
          "hgvs_p": null,
          "transcript": "NM_001441156.1",
          "protein_id": "NP_001428085.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 431,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1296,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2396,
          "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": 2,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PLAU",
          "gene_hgnc_id": 9052,
          "hgvs_c": "c.-25C>T",
          "hgvs_p": null,
          "transcript": "NM_001441157.1",
          "protein_id": "NP_001428086.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 431,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1296,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2649,
          "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": 2,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PLAU",
          "gene_hgnc_id": 9052,
          "hgvs_c": "c.-361C>T",
          "hgvs_p": null,
          "transcript": "NM_001145031.3",
          "protein_id": "NP_001138503.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 414,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1245,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2628,
          "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": 2,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PLAU",
          "gene_hgnc_id": 9052,
          "hgvs_c": "c.-361C>T",
          "hgvs_p": null,
          "transcript": "ENST00000446342.5",
          "protein_id": "ENSP00000388474.1",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 414,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1245,
          "cdna_start": null,
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          "cdna_length": 2658,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
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          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_premature_start_codon_gain_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
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          "gene_symbol": "PLAU",
          "gene_hgnc_id": 9052,
          "hgvs_c": "c.-25C>T",
          "hgvs_p": null,
          "transcript": "NM_001441160.1",
          "protein_id": "NP_001428089.1",
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          "aa_length": 375,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1128,
          "cdna_start": null,
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          "mane_select": null,
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        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_premature_start_codon_gain_variant"
          ],
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          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PLAU",
          "gene_hgnc_id": 9052,
          "hgvs_c": "c.-255C>T",
          "hgvs_p": null,
          "transcript": "NM_001319191.2",
          "protein_id": "NP_001306120.2",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 345,
          "cds_start": -4,
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          "cds_length": 1038,
          "cdna_start": null,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_premature_start_codon_gain_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PLAU",
          "gene_hgnc_id": 9052,
          "hgvs_c": "c.-596C>T",
          "hgvs_p": null,
          "transcript": "NM_001441158.1",
          "protein_id": "NP_001428087.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 345,
          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 2656,
          "mane_select": null,
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          "biotype": null,
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        },
        {
          "aa_ref": null,
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          "canonical": false,
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          ],
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          "intron_rank": null,
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          "gene_symbol": "PLAU",
          "gene_hgnc_id": 9052,
          "hgvs_c": "c.-278C>T",
          "hgvs_p": null,
          "transcript": "NM_001441159.1",
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          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": -4,
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          "cdna_start": null,
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          "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_premature_start_codon_gain_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PLAU",
          "gene_hgnc_id": 9052,
          "hgvs_c": "c.-25C>T",
          "hgvs_p": null,
          "transcript": "ENST00000481390.5",
          "protein_id": "ENSP00000474318.1",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 105,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 319,
          "cdna_start": null,
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          "cdna_length": 468,
          "mane_select": null,
          "mane_plus": null,
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          "feature": null
        },
        {
          "aa_ref": null,
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          "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": "PLAU",
          "gene_hgnc_id": 9052,
          "hgvs_c": "c.-25C>T",
          "hgvs_p": null,
          "transcript": "XM_047425353.1",
          "protein_id": "XP_047281309.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 431,
          "cds_start": -4,
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          "cds_length": 1296,
          "cdna_start": null,
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          "cdna_length": 2649,
          "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": 2,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PLAU",
          "gene_hgnc_id": 9052,
          "hgvs_c": "n.79C>T",
          "hgvs_p": null,
          "transcript": "ENST00000494287.1",
          "protein_id": null,
          "transcript_support_level": 2,
          "aa_start": null,
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          "cds_start": -4,
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          "cdna_length": 750,
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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": 2,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PLAU",
          "gene_hgnc_id": 9052,
          "hgvs_c": "n.152C>T",
          "hgvs_p": null,
          "transcript": "ENST00000496926.1",
          "protein_id": null,
          "transcript_support_level": 5,
          "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": 160,
          "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": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C10orf55",
          "gene_hgnc_id": 31008,
          "hgvs_c": "n.1080G>A",
          "hgvs_p": null,
          "transcript": "NR_160937.1",
          "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": 2642,
          "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": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
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            "BP6_Very_Strong",
            "BS2"
          ],
          "verdict": "Benign",
          "transcript": "ENST00000409178.5",
          "gene_symbol": "C10orf55",
          "hgnc_id": 31008,
          "effects": [
            "non_coding_transcript_exon_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "n.951G>A",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "Quebec platelet disorder,not provided",
      "clinvar_classification": "Benign/Likely benign",
      "clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
      "clinvar_submissions_summary": "LB:1 B:2",
      "phenotype_combined": "Quebec platelet disorder|not provided",
      "pathogenicity_classification_combined": "Benign/Likely benign",
      "custom_annotations": null
    }
  ],
  "message": null
}