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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: 15-44672425-G-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=44672425&ref=G&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "15",
      "pos": 44672425,
      "ref": "G",
      "alt": "T",
      "effect": "synonymous_variant",
      "transcript": "ENST00000682850.1",
      "consequences": [
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PATL2",
          "gene_hgnc_id": 33630,
          "hgvs_c": "c.478C>A",
          "hgvs_p": "p.Arg160Arg",
          "transcript": "NM_001387263.1",
          "protein_id": "NP_001374192.1",
          "transcript_support_level": null,
          "aa_start": 160,
          "aa_end": null,
          "aa_length": 543,
          "cds_start": 478,
          "cds_end": null,
          "cds_length": 1632,
          "cdna_start": 1035,
          "cdna_end": null,
          "cdna_length": 2410,
          "mane_select": "ENST00000682850.1",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PATL2",
          "gene_hgnc_id": 33630,
          "hgvs_c": "c.478C>A",
          "hgvs_p": "p.Arg160Arg",
          "transcript": "ENST00000682850.1",
          "protein_id": "ENSP00000508024.1",
          "transcript_support_level": null,
          "aa_start": 160,
          "aa_end": null,
          "aa_length": 543,
          "cds_start": 478,
          "cds_end": null,
          "cds_length": 1632,
          "cdna_start": 1035,
          "cdna_end": null,
          "cdna_length": 2410,
          "mane_select": "NM_001387263.1",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PATL2",
          "gene_hgnc_id": 33630,
          "hgvs_c": "c.478C>A",
          "hgvs_p": "p.Arg160Arg",
          "transcript": "NM_001145112.2",
          "protein_id": "NP_001138584.1",
          "transcript_support_level": null,
          "aa_start": 160,
          "aa_end": null,
          "aa_length": 543,
          "cds_start": 478,
          "cds_end": null,
          "cds_length": 1632,
          "cdna_start": 562,
          "cdna_end": null,
          "cdna_length": 1937,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PATL2",
          "gene_hgnc_id": 33630,
          "hgvs_c": "c.478C>A",
          "hgvs_p": "p.Arg160Arg",
          "transcript": "NM_001387261.1",
          "protein_id": "NP_001374190.1",
          "transcript_support_level": null,
          "aa_start": 160,
          "aa_end": null,
          "aa_length": 543,
          "cds_start": 478,
          "cds_end": null,
          "cds_length": 1632,
          "cdna_start": 857,
          "cdna_end": null,
          "cdna_length": 2232,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PATL2",
          "gene_hgnc_id": 33630,
          "hgvs_c": "c.478C>A",
          "hgvs_p": "p.Arg160Arg",
          "transcript": "NM_001387262.1",
          "protein_id": "NP_001374191.1",
          "transcript_support_level": null,
          "aa_start": 160,
          "aa_end": null,
          "aa_length": 543,
          "cds_start": 478,
          "cds_end": null,
          "cds_length": 1632,
          "cdna_start": 1125,
          "cdna_end": null,
          "cdna_length": 2500,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PATL2",
          "gene_hgnc_id": 33630,
          "hgvs_c": "c.478C>A",
          "hgvs_p": "p.Arg160Arg",
          "transcript": "ENST00000434130.6",
          "protein_id": "ENSP00000416673.1",
          "transcript_support_level": 5,
          "aa_start": 160,
          "aa_end": null,
          "aa_length": 543,
          "cds_start": 478,
          "cds_end": null,
          "cds_length": 1632,
          "cdna_start": 576,
          "cdna_end": null,
          "cdna_length": 1951,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PATL2",
          "gene_hgnc_id": 33630,
          "hgvs_c": "c.478C>A",
          "hgvs_p": "p.Arg160Arg",
          "transcript": "NM_001387260.1",
          "protein_id": "NP_001374189.1",
          "transcript_support_level": null,
          "aa_start": 160,
          "aa_end": null,
          "aa_length": 512,
          "cds_start": 478,
          "cds_end": null,
          "cds_length": 1539,
          "cdna_start": 612,
          "cdna_end": null,
          "cdna_length": 1894,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PATL2",
          "gene_hgnc_id": 33630,
          "hgvs_c": "c.478C>A",
          "hgvs_p": "p.Arg160Arg",
          "transcript": "NM_001387264.1",
          "protein_id": "NP_001374193.1",
          "transcript_support_level": null,
          "aa_start": 160,
          "aa_end": null,
          "aa_length": 512,
          "cds_start": 478,
          "cds_end": null,
          "cds_length": 1539,
          "cdna_start": 701,
          "cdna_end": null,
          "cdna_length": 1983,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PATL2",
          "gene_hgnc_id": 33630,
          "hgvs_c": "c.217C>A",
          "hgvs_p": "p.Arg73Arg",
          "transcript": "ENST00000560110.1",
          "protein_id": "ENSP00000453898.1",
          "transcript_support_level": 5,
          "aa_start": 73,
          "aa_end": null,
          "aa_length": 124,
          "cds_start": 217,
          "cds_end": null,
          "cds_length": 376,
          "cdna_start": 606,
          "cdna_end": null,
          "cdna_length": 765,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PATL2",
          "gene_hgnc_id": 33630,
          "hgvs_c": "c.592C>A",
          "hgvs_p": "p.Arg198Arg",
          "transcript": "XM_011521336.3",
          "protein_id": "XP_011519638.2",
          "transcript_support_level": null,
          "aa_start": 198,
          "aa_end": null,
          "aa_length": 603,
          "cds_start": 592,
          "cds_end": null,
          "cds_length": 1812,
          "cdna_start": 1397,
          "cdna_end": null,
          "cdna_length": 2674,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PATL2",
          "gene_hgnc_id": 33630,
          "hgvs_c": "c.583C>A",
          "hgvs_p": "p.Arg195Arg",
          "transcript": "XM_011521337.3",
          "protein_id": "XP_011519639.2",
          "transcript_support_level": null,
          "aa_start": 195,
          "aa_end": null,
          "aa_length": 600,
          "cds_start": 583,
          "cds_end": null,
          "cds_length": 1803,
          "cdna_start": 1542,
          "cdna_end": null,
          "cdna_length": 2819,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PATL2",
          "gene_hgnc_id": 33630,
          "hgvs_c": "c.478C>A",
          "hgvs_p": "p.Arg160Arg",
          "transcript": "XM_011521338.4",
          "protein_id": "XP_011519640.1",
          "transcript_support_level": null,
          "aa_start": 160,
          "aa_end": null,
          "aa_length": 565,
          "cds_start": 478,
          "cds_end": null,
          "cds_length": 1698,
          "cdna_start": 1035,
          "cdna_end": null,
          "cdna_length": 2312,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PATL2",
          "gene_hgnc_id": 33630,
          "hgvs_c": "c.478C>A",
          "hgvs_p": "p.Arg160Arg",
          "transcript": "XM_011521339.4",
          "protein_id": "XP_011519641.1",
          "transcript_support_level": null,
          "aa_start": 160,
          "aa_end": null,
          "aa_length": 565,
          "cds_start": 478,
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          "cds_length": 1698,
          "cdna_start": 916,
          "cdna_end": null,
          "cdna_length": 2193,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PATL2",
          "gene_hgnc_id": 33630,
          "hgvs_c": "c.478C>A",
          "hgvs_p": "p.Arg160Arg",
          "transcript": "XM_011521341.2",
          "protein_id": "XP_011519643.1",
          "transcript_support_level": null,
          "aa_start": 160,
          "aa_end": null,
          "aa_length": 565,
          "cds_start": 478,
          "cds_end": null,
          "cds_length": 1698,
          "cdna_start": 701,
          "cdna_end": null,
          "cdna_length": 1978,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
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          "gene_symbol": "PATL2",
          "gene_hgnc_id": 33630,
          "hgvs_c": "c.478C>A",
          "hgvs_p": "p.Arg160Arg",
          "transcript": "XM_047432230.1",
          "protein_id": "XP_047288186.1",
          "transcript_support_level": null,
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          "cds_start": 478,
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          "cdna_start": 1125,
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          "cdna_length": 2402,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PATL2",
          "gene_hgnc_id": 33630,
          "hgvs_c": "c.592C>A",
          "hgvs_p": "p.Arg198Arg",
          "transcript": "XM_047432231.1",
          "protein_id": "XP_047288187.1",
          "transcript_support_level": null,
          "aa_start": 198,
          "aa_end": null,
          "aa_length": 550,
          "cds_start": 592,
          "cds_end": null,
          "cds_length": 1653,
          "cdna_start": 1549,
          "cdna_end": null,
          "cdna_length": 2831,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PATL2",
          "gene_hgnc_id": 33630,
          "hgvs_c": "c.256C>A",
          "hgvs_p": "p.Arg86Arg",
          "transcript": "XM_011521342.3",
          "protein_id": "XP_011519644.1",
          "transcript_support_level": null,
          "aa_start": 86,
          "aa_end": null,
          "aa_length": 491,
          "cds_start": 256,
          "cds_end": null,
          "cds_length": 1476,
          "cdna_start": 532,
          "cdna_end": null,
          "cdna_length": 1809,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PATL2",
          "gene_hgnc_id": 33630,
          "hgvs_c": "c.226C>A",
          "hgvs_p": "p.Arg76Arg",
          "transcript": "XM_011521343.4",
          "protein_id": "XP_011519645.1",
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          "aa_start": 76,
          "aa_end": null,
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          "cds_start": 226,
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          "cdna_start": 867,
          "cdna_end": null,
          "cdna_length": 2144,
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          "feature": null
        },
        {
          "aa_ref": "R",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PATL2",
          "gene_hgnc_id": 33630,
          "hgvs_c": "c.226C>A",
          "hgvs_p": "p.Arg76Arg",
          "transcript": "XM_011521344.4",
          "protein_id": "XP_011519646.1",
          "transcript_support_level": null,
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          "cds_end": null,
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          "cdna_start": 382,
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          "cdna_length": 1659,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PATL2",
          "gene_hgnc_id": 33630,
          "hgvs_c": "c.217C>A",
          "hgvs_p": "p.Arg73Arg",
          "transcript": "XM_011521345.4",
          "protein_id": "XP_011519647.1",
          "transcript_support_level": null,
          "aa_start": 73,
          "aa_end": null,
          "aa_length": 478,
          "cds_start": 217,
          "cds_end": null,
          "cds_length": 1437,
          "cdna_start": 829,
          "cdna_end": null,
          "cdna_length": 2106,
          "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": 4,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PATL2",
          "gene_hgnc_id": 33630,
          "hgvs_c": "n.388C>A",
          "hgvs_p": null,
          "transcript": "ENST00000558481.5",
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      ],
      "gene_symbol": "PATL2",
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      "dbsnp": "rs548527219",
      "frequency_reference_population": 7.1458993e-7,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 1,
      "gnomad_exomes_af": 7.1459e-7,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": 1,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.5199999809265137,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0.029999999329447746,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
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      "revel_prediction": null,
      "alphamissense_score": null,
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      "bayesdelnoaf_score": -0.52,
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      "phylop100way_score": 1.072,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0.03,
      "spliceai_max_prediction": "Benign",
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      "acmg_score": -3,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "PM2,BP4_Strong,BP7",
      "acmg_by_gene": [
        {
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          "benign_score": 5,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Strong",
            "BP7"
          ],
          "verdict": "Likely_benign",
          "transcript": "ENST00000682850.1",
          "gene_symbol": "PATL2",
          "hgnc_id": 33630,
          "effects": [
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          "inheritance_mode": "AR",
          "hgvs_c": "c.478C>A",
          "hgvs_p": "p.Arg160Arg"
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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
}