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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: 6-111674591-G-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=111674591&ref=G&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "6",
      "pos": 111674591,
      "ref": "G",
      "alt": "T",
      "effect": "missense_variant",
      "transcript": "NM_002037.5",
      "consequences": [
        {
          "aa_ref": "A",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FYN",
          "gene_hgnc_id": 4037,
          "hgvs_c": "c.1313C>A",
          "hgvs_p": "p.Ala438Asp",
          "transcript": "NM_002037.5",
          "protein_id": "NP_002028.1",
          "transcript_support_level": null,
          "aa_start": 438,
          "aa_end": null,
          "aa_length": 537,
          "cds_start": 1313,
          "cds_end": null,
          "cds_length": 1614,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000354650.7",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_002037.5"
        },
        {
          "aa_ref": "A",
          "aa_alt": "D",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FYN",
          "gene_hgnc_id": 4037,
          "hgvs_c": "c.1313C>A",
          "hgvs_p": "p.Ala438Asp",
          "transcript": "ENST00000354650.7",
          "protein_id": "ENSP00000346671.3",
          "transcript_support_level": 1,
          "aa_start": 438,
          "aa_end": null,
          "aa_length": 537,
          "cds_start": 1313,
          "cds_end": null,
          "cds_length": 1614,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_002037.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000354650.7"
        },
        {
          "aa_ref": "A",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FYN",
          "gene_hgnc_id": 4037,
          "hgvs_c": "c.1148C>A",
          "hgvs_p": "p.Ala383Asp",
          "transcript": "ENST00000229471.8",
          "protein_id": "ENSP00000229471.4",
          "transcript_support_level": 1,
          "aa_start": 383,
          "aa_end": null,
          "aa_length": 482,
          "cds_start": 1148,
          "cds_end": null,
          "cds_length": 1449,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000229471.8"
        },
        {
          "aa_ref": "A",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FYN",
          "gene_hgnc_id": 4037,
          "hgvs_c": "c.1469C>A",
          "hgvs_p": "p.Ala490Asp",
          "transcript": "ENST00000905552.1",
          "protein_id": "ENSP00000575611.1",
          "transcript_support_level": null,
          "aa_start": 490,
          "aa_end": null,
          "aa_length": 589,
          "cds_start": 1469,
          "cds_end": null,
          "cds_length": 1770,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000905552.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FYN",
          "gene_hgnc_id": 4037,
          "hgvs_c": "c.1469C>A",
          "hgvs_p": "p.Ala490Asp",
          "transcript": "ENST00000912320.1",
          "protein_id": "ENSP00000582379.1",
          "transcript_support_level": null,
          "aa_start": 490,
          "aa_end": null,
          "aa_length": 589,
          "cds_start": 1469,
          "cds_end": null,
          "cds_length": 1770,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000912320.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FYN",
          "gene_hgnc_id": 4037,
          "hgvs_c": "c.1469C>A",
          "hgvs_p": "p.Ala490Asp",
          "transcript": "ENST00000912326.1",
          "protein_id": "ENSP00000582385.1",
          "transcript_support_level": null,
          "aa_start": 490,
          "aa_end": null,
          "aa_length": 589,
          "cds_start": 1469,
          "cds_end": null,
          "cds_length": 1770,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000912326.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FYN",
          "gene_hgnc_id": 4037,
          "hgvs_c": "c.1469C>A",
          "hgvs_p": "p.Ala490Asp",
          "transcript": "ENST00000912327.1",
          "protein_id": "ENSP00000582386.1",
          "transcript_support_level": null,
          "aa_start": 490,
          "aa_end": null,
          "aa_length": 589,
          "cds_start": 1469,
          "cds_end": null,
          "cds_length": 1770,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000912327.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FYN",
          "gene_hgnc_id": 4037,
          "hgvs_c": "c.1397C>A",
          "hgvs_p": "p.Ala466Asp",
          "transcript": "ENST00000966567.1",
          "protein_id": "ENSP00000636626.1",
          "transcript_support_level": null,
          "aa_start": 466,
          "aa_end": null,
          "aa_length": 565,
          "cds_start": 1397,
          "cds_end": null,
          "cds_length": 1698,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000966567.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FYN",
          "gene_hgnc_id": 4037,
          "hgvs_c": "c.1382C>A",
          "hgvs_p": "p.Ala461Asp",
          "transcript": "ENST00000912325.1",
          "protein_id": "ENSP00000582384.1",
          "transcript_support_level": null,
          "aa_start": 461,
          "aa_end": null,
          "aa_length": 560,
          "cds_start": 1382,
          "cds_end": null,
          "cds_length": 1683,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000912325.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FYN",
          "gene_hgnc_id": 4037,
          "hgvs_c": "c.1373C>A",
          "hgvs_p": "p.Ala458Asp",
          "transcript": "ENST00000912324.1",
          "protein_id": "ENSP00000582383.1",
          "transcript_support_level": null,
          "aa_start": 458,
          "aa_end": null,
          "aa_length": 557,
          "cds_start": 1373,
          "cds_end": null,
          "cds_length": 1674,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000912324.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FYN",
          "gene_hgnc_id": 4037,
          "hgvs_c": "c.1343C>A",
          "hgvs_p": "p.Ala448Asp",
          "transcript": "ENST00000912314.1",
          "protein_id": "ENSP00000582373.1",
          "transcript_support_level": null,
          "aa_start": 448,
          "aa_end": null,
          "aa_length": 547,
          "cds_start": 1343,
          "cds_end": null,
          "cds_length": 1644,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000912314.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FYN",
          "gene_hgnc_id": 4037,
          "hgvs_c": "c.1313C>A",
          "hgvs_p": "p.Ala438Asp",
          "transcript": "NM_001370529.1",
          "protein_id": "NP_001357458.1",
          "transcript_support_level": null,
          "aa_start": 438,
          "aa_end": null,
          "aa_length": 537,
          "cds_start": 1313,
          "cds_end": null,
          "cds_length": 1614,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001370529.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FYN",
          "gene_hgnc_id": 4037,
          "hgvs_c": "c.1313C>A",
          "hgvs_p": "p.Ala438Asp",
          "transcript": "ENST00000368667.6",
          "protein_id": "ENSP00000357656.2",
          "transcript_support_level": 5,
          "aa_start": 438,
          "aa_end": null,
          "aa_length": 537,
          "cds_start": 1313,
          "cds_end": null,
          "cds_length": 1614,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000368667.6"
        },
        {
          "aa_ref": "A",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FYN",
          "gene_hgnc_id": 4037,
          "hgvs_c": "c.1313C>A",
          "hgvs_p": "p.Ala438Asp",
          "transcript": "ENST00000905530.1",
          "protein_id": "ENSP00000575589.1",
          "transcript_support_level": null,
          "aa_start": 438,
          "aa_end": null,
          "aa_length": 537,
          "cds_start": 1313,
          "cds_end": null,
          "cds_length": 1614,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000905530.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FYN",
          "gene_hgnc_id": 4037,
          "hgvs_c": "c.1313C>A",
          "hgvs_p": "p.Ala438Asp",
          "transcript": "ENST00000905533.1",
          "protein_id": "ENSP00000575592.1",
          "transcript_support_level": null,
          "aa_start": 438,
          "aa_end": null,
          "aa_length": 537,
          "cds_start": 1313,
          "cds_end": null,
          "cds_length": 1614,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000905533.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FYN",
          "gene_hgnc_id": 4037,
          "hgvs_c": "c.1313C>A",
          "hgvs_p": "p.Ala438Asp",
          "transcript": "ENST00000905535.1",
          "protein_id": "ENSP00000575594.1",
          "transcript_support_level": null,
          "aa_start": 438,
          "aa_end": null,
          "aa_length": 537,
          "cds_start": 1313,
          "cds_end": null,
          "cds_length": 1614,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000905535.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FYN",
          "gene_hgnc_id": 4037,
          "hgvs_c": "c.1313C>A",
          "hgvs_p": "p.Ala438Asp",
          "transcript": "ENST00000905540.1",
          "protein_id": "ENSP00000575599.1",
          "transcript_support_level": null,
          "aa_start": 438,
          "aa_end": null,
          "aa_length": 537,
          "cds_start": 1313,
          "cds_end": null,
          "cds_length": 1614,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000905540.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FYN",
          "gene_hgnc_id": 4037,
          "hgvs_c": "c.1313C>A",
          "hgvs_p": "p.Ala438Asp",
          "transcript": "ENST00000905541.1",
          "protein_id": "ENSP00000575600.1",
          "transcript_support_level": null,
          "aa_start": 438,
          "aa_end": null,
          "aa_length": 537,
          "cds_start": 1313,
          "cds_end": null,
          "cds_length": 1614,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000905541.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FYN",
          "gene_hgnc_id": 4037,
          "hgvs_c": "c.1313C>A",
          "hgvs_p": "p.Ala438Asp",
          "transcript": "ENST00000905543.1",
          "protein_id": "ENSP00000575602.1",
          "transcript_support_level": null,
          "aa_start": 438,
          "aa_end": null,
          "aa_length": 537,
          "cds_start": 1313,
          "cds_end": null,
          "cds_length": 1614,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000905543.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FYN",
          "gene_hgnc_id": 4037,
          "hgvs_c": "c.1313C>A",
          "hgvs_p": "p.Ala438Asp",
          "transcript": "ENST00000905548.1",
          "protein_id": "ENSP00000575607.1",
          "transcript_support_level": null,
          "aa_start": 438,
          "aa_end": null,
          "aa_length": 537,
          "cds_start": 1313,
          "cds_end": null,
          "cds_length": 1614,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000905548.1"
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          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "ENST00000491885.6"
        }
      ],
      "gene_symbol": "FYN",
      "gene_hgnc_id": 4037,
      "dbsnp": "rs1801109",
      "frequency_reference_population": null,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 0,
      "gnomad_exomes_af": null,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": null,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": null,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.9298548102378845,
      "computational_prediction_selected": "Pathogenic",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.886,
      "revel_prediction": "Pathogenic",
      "alphamissense_score": 0.9999,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": 0.35,
      "bayesdelnoaf_prediction": "Pathogenic",
      "phylop100way_score": 9.889,
      "phylop100way_prediction": "Pathogenic",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
      "dbscsnv_ada_score": null,
      "dbscsnv_ada_prediction": null,
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": 4,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PM2,PP3_Moderate",
      "acmg_by_gene": [
        {
          "score": 4,
          "benign_score": 0,
          "pathogenic_score": 4,
          "criteria": [
            "PM2",
            "PP3_Moderate"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "NM_002037.5",
          "gene_symbol": "FYN",
          "hgnc_id": 4037,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.1313C>A",
          "hgvs_p": "p.Ala438Asp"
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}
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