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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: 9-105607874-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=105607874&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "9",
      "pos": 105607874,
      "ref": "C",
      "alt": "T",
      "effect": "missense_variant",
      "transcript": "ENST00000357998.10",
      "consequences": [
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FKTN",
          "gene_hgnc_id": 3622,
          "hgvs_c": "c.703C>T",
          "hgvs_p": "p.Pro235Ser",
          "transcript": "NM_001079802.2",
          "protein_id": "NP_001073270.1",
          "transcript_support_level": null,
          "aa_start": 235,
          "aa_end": null,
          "aa_length": 461,
          "cds_start": 703,
          "cds_end": null,
          "cds_length": 1386,
          "cdna_start": 918,
          "cdna_end": null,
          "cdna_length": 7455,
          "mane_select": "ENST00000357998.10",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FKTN",
          "gene_hgnc_id": 3622,
          "hgvs_c": "c.703C>T",
          "hgvs_p": "p.Pro235Ser",
          "transcript": "ENST00000357998.10",
          "protein_id": "ENSP00000350687.6",
          "transcript_support_level": 5,
          "aa_start": 235,
          "aa_end": null,
          "aa_length": 461,
          "cds_start": 703,
          "cds_end": null,
          "cds_length": 1386,
          "cdna_start": 918,
          "cdna_end": null,
          "cdna_length": 7455,
          "mane_select": "NM_001079802.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FKTN",
          "gene_hgnc_id": 3622,
          "hgvs_c": "c.703C>T",
          "hgvs_p": "p.Pro235Ser",
          "transcript": "ENST00000223528.6",
          "protein_id": "ENSP00000223528.2",
          "transcript_support_level": 1,
          "aa_start": 235,
          "aa_end": null,
          "aa_length": 461,
          "cds_start": 703,
          "cds_end": null,
          "cds_length": 1386,
          "cdna_start": 827,
          "cdna_end": null,
          "cdna_length": 7364,
          "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": 7,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FKTN",
          "gene_hgnc_id": 3622,
          "hgvs_c": "n.*741C>T",
          "hgvs_p": null,
          "transcript": "ENST00000602526.1",
          "protein_id": "ENSP00000473347.1",
          "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": 7036,
          "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": 10,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FKTN",
          "gene_hgnc_id": 3622,
          "hgvs_c": "n.*311C>T",
          "hgvs_p": null,
          "transcript": "ENST00000602661.6",
          "protein_id": "ENSP00000473540.2",
          "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": 2876,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FKTN",
          "gene_hgnc_id": 3622,
          "hgvs_c": "n.*741C>T",
          "hgvs_p": null,
          "transcript": "ENST00000602526.1",
          "protein_id": "ENSP00000473347.1",
          "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": 7036,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FKTN",
          "gene_hgnc_id": 3622,
          "hgvs_c": "n.*311C>T",
          "hgvs_p": null,
          "transcript": "ENST00000602661.6",
          "protein_id": "ENSP00000473540.2",
          "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": 2876,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FKTN",
          "gene_hgnc_id": 3622,
          "hgvs_c": "c.703C>T",
          "hgvs_p": "p.Pro235Ser",
          "transcript": "NM_001351496.2",
          "protein_id": "NP_001338425.1",
          "transcript_support_level": null,
          "aa_start": 235,
          "aa_end": null,
          "aa_length": 461,
          "cds_start": 703,
          "cds_end": null,
          "cds_length": 1386,
          "cdna_start": 1053,
          "cdna_end": null,
          "cdna_length": 7590,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FKTN",
          "gene_hgnc_id": 3622,
          "hgvs_c": "c.703C>T",
          "hgvs_p": "p.Pro235Ser",
          "transcript": "NM_006731.2",
          "protein_id": "NP_006722.2",
          "transcript_support_level": null,
          "aa_start": 235,
          "aa_end": null,
          "aa_length": 461,
          "cds_start": 703,
          "cds_end": null,
          "cds_length": 1386,
          "cdna_start": 827,
          "cdna_end": null,
          "cdna_length": 7364,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FKTN",
          "gene_hgnc_id": 3622,
          "hgvs_c": "c.703C>T",
          "hgvs_p": "p.Pro235Ser",
          "transcript": "ENST00000676310.1",
          "protein_id": "ENSP00000501585.1",
          "transcript_support_level": null,
          "aa_start": 235,
          "aa_end": null,
          "aa_length": 450,
          "cds_start": 703,
          "cds_end": null,
          "cds_length": 1353,
          "cdna_start": 729,
          "cdna_end": null,
          "cdna_length": 3045,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FKTN",
          "gene_hgnc_id": 3622,
          "hgvs_c": "c.703C>T",
          "hgvs_p": "p.Pro235Ser",
          "transcript": "ENST00000674633.1",
          "protein_id": "ENSP00000502164.1",
          "transcript_support_level": null,
          "aa_start": 235,
          "aa_end": null,
          "aa_length": 448,
          "cds_start": 703,
          "cds_end": null,
          "cds_length": 1347,
          "cdna_start": 731,
          "cdna_end": null,
          "cdna_length": 2019,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FKTN",
          "gene_hgnc_id": 3622,
          "hgvs_c": "c.634C>T",
          "hgvs_p": "p.Pro212Ser",
          "transcript": "NM_001351497.2",
          "protein_id": "NP_001338426.1",
          "transcript_support_level": null,
          "aa_start": 212,
          "aa_end": null,
          "aa_length": 438,
          "cds_start": 634,
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          "cds_length": 1317,
          "cdna_start": 1151,
          "cdna_end": null,
          "cdna_length": 7688,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FKTN",
          "gene_hgnc_id": 3622,
          "hgvs_c": "c.703C>T",
          "hgvs_p": "p.Pro235Ser",
          "transcript": "NM_001198963.2",
          "protein_id": "NP_001185892.1",
          "transcript_support_level": null,
          "aa_start": 235,
          "aa_end": null,
          "aa_length": 430,
          "cds_start": 703,
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          "cdna_start": 918,
          "cdna_end": null,
          "cdna_length": 2503,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
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          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FKTN",
          "gene_hgnc_id": 3622,
          "hgvs_c": "c.703C>T",
          "hgvs_p": "p.Pro235Ser",
          "transcript": "ENST00000448551.6",
          "protein_id": "ENSP00000399140.2",
          "transcript_support_level": 2,
          "aa_start": 235,
          "aa_end": null,
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          "cds_start": 703,
          "cds_end": null,
          "cds_length": 1293,
          "cdna_start": 917,
          "cdna_end": null,
          "cdna_length": 1700,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
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          "gene_symbol": "FKTN",
          "gene_hgnc_id": 3622,
          "hgvs_c": "c.703C>T",
          "hgvs_p": "p.Pro235Ser",
          "transcript": "NM_001351498.2",
          "protein_id": "NP_001338427.1",
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          "mane_select": null,
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          "feature": null
        },
        {
          "aa_ref": "P",
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          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FKTN",
          "gene_hgnc_id": 3622,
          "hgvs_c": "c.703C>T",
          "hgvs_p": "p.Pro235Ser",
          "transcript": "ENST00000675668.1",
          "protein_id": "ENSP00000502113.1",
          "transcript_support_level": null,
          "aa_start": 235,
          "aa_end": null,
          "aa_length": 405,
          "cds_start": 703,
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          "cds_length": 1218,
          "cdna_start": 1053,
          "cdna_end": null,
          "cdna_length": 4284,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FKTN",
          "gene_hgnc_id": 3622,
          "hgvs_c": "c.307C>T",
          "hgvs_p": "p.Pro103Ser",
          "transcript": "NM_001351499.2",
          "protein_id": "NP_001338428.1",
          "transcript_support_level": null,
          "aa_start": 103,
          "aa_end": null,
          "aa_length": 329,
          "cds_start": 307,
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          "cdna_start": 1171,
          "cdna_end": null,
          "cdna_length": 7708,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
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          "gene_symbol": "FKTN",
          "gene_hgnc_id": 3622,
          "hgvs_c": "c.307C>T",
          "hgvs_p": "p.Pro103Ser",
          "transcript": "NM_001351500.2",
          "protein_id": "NP_001338429.1",
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        },
        {
          "aa_ref": "P",
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          "protein_coding": true,
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          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FKTN",
          "gene_hgnc_id": 3622,
          "hgvs_c": "c.307C>T",
          "hgvs_p": "p.Pro103Ser",
          "transcript": "NM_001351501.2",
          "protein_id": "NP_001338430.1",
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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": [
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          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
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          "gene_symbol": "FKTN",
          "gene_hgnc_id": 3622,
          "hgvs_c": "c.307C>T",
          "hgvs_p": "p.Pro103Ser",
          "transcript": "NM_001351502.2",
          "protein_id": "NP_001338431.1",
          "transcript_support_level": null,
          "aa_start": 103,
          "aa_end": null,
          "aa_length": 329,
          "cds_start": 307,
          "cds_end": null,
          "cds_length": 990,
          "cdna_start": 1264,
          "cdna_end": null,
          "cdna_length": 7801,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FKTN",
          "gene_hgnc_id": 3622,
          "hgvs_c": "c.703C>T",
          "hgvs_p": "p.Pro235Ser",
          "transcript": "XM_011518368.3",
          "protein_id": "XP_011516670.1",
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      ],
      "gene_symbol": "FKTN",
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      "dbsnp": "rs373418195",
      "frequency_reference_population": 0.0000047976882,
      "hom_count_reference_population": 0,
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      "gnomad_exomes_af": 0.00000479769,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": 7,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.17509377002716064,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.375,
      "revel_prediction": "Uncertain_significance",
      "alphamissense_score": 0.1443,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.1,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 2.415,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
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      "mitotip_score": null,
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      "acmg_score": -2,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "BP4_Moderate",
      "acmg_by_gene": [
        {
          "score": -2,
          "benign_score": 2,
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            "BP4_Moderate"
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          "verdict": "Likely_benign",
          "transcript": "ENST00000357998.10",
          "gene_symbol": "FKTN",
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          "effects": [
            "missense_variant"
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          "inheritance_mode": "AR,AD",
          "hgvs_c": "c.703C>T",
          "hgvs_p": "p.Pro235Ser"
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      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}