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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: 9-136898748-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=136898748&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "9",
      "pos": 136898748,
      "ref": "C",
      "alt": "T",
      "effect": "missense_variant",
      "transcript": "NM_021138.4",
      "consequences": [
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRAF2",
          "gene_hgnc_id": 12032,
          "hgvs_c": "c.8C>T",
          "hgvs_p": "p.Ala3Val",
          "transcript": "NM_021138.4",
          "protein_id": "NP_066961.2",
          "transcript_support_level": null,
          "aa_start": 3,
          "aa_end": null,
          "aa_length": 501,
          "cds_start": 8,
          "cds_end": null,
          "cds_length": 1506,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000247668.7",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_021138.4"
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRAF2",
          "gene_hgnc_id": 12032,
          "hgvs_c": "c.8C>T",
          "hgvs_p": "p.Ala3Val",
          "transcript": "ENST00000247668.7",
          "protein_id": "ENSP00000247668.2",
          "transcript_support_level": 1,
          "aa_start": 3,
          "aa_end": null,
          "aa_length": 501,
          "cds_start": 8,
          "cds_end": null,
          "cds_length": 1506,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_021138.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000247668.7"
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRAF2",
          "gene_hgnc_id": 12032,
          "hgvs_c": "c.8C>T",
          "hgvs_p": "p.Ala3Val",
          "transcript": "ENST00000882556.1",
          "protein_id": "ENSP00000552615.1",
          "transcript_support_level": null,
          "aa_start": 3,
          "aa_end": null,
          "aa_length": 553,
          "cds_start": 8,
          "cds_end": null,
          "cds_length": 1662,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000882556.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRAF2",
          "gene_hgnc_id": 12032,
          "hgvs_c": "c.8C>T",
          "hgvs_p": "p.Ala3Val",
          "transcript": "ENST00000882557.1",
          "protein_id": "ENSP00000552616.1",
          "transcript_support_level": null,
          "aa_start": 3,
          "aa_end": null,
          "aa_length": 533,
          "cds_start": 8,
          "cds_end": null,
          "cds_length": 1602,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000882557.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRAF2",
          "gene_hgnc_id": 12032,
          "hgvs_c": "c.8C>T",
          "hgvs_p": "p.Ala3Val",
          "transcript": "ENST00000882565.1",
          "protein_id": "ENSP00000552624.1",
          "transcript_support_level": null,
          "aa_start": 3,
          "aa_end": null,
          "aa_length": 533,
          "cds_start": 8,
          "cds_end": null,
          "cds_length": 1602,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000882565.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRAF2",
          "gene_hgnc_id": 12032,
          "hgvs_c": "c.8C>T",
          "hgvs_p": "p.Ala3Val",
          "transcript": "ENST00000936026.1",
          "protein_id": "ENSP00000606085.1",
          "transcript_support_level": null,
          "aa_start": 3,
          "aa_end": null,
          "aa_length": 533,
          "cds_start": 8,
          "cds_end": null,
          "cds_length": 1602,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000936026.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRAF2",
          "gene_hgnc_id": 12032,
          "hgvs_c": "c.8C>T",
          "hgvs_p": "p.Ala3Val",
          "transcript": "ENST00000850853.1",
          "protein_id": "ENSP00000520942.1",
          "transcript_support_level": null,
          "aa_start": 3,
          "aa_end": null,
          "aa_length": 501,
          "cds_start": 8,
          "cds_end": null,
          "cds_length": 1506,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000850853.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRAF2",
          "gene_hgnc_id": 12032,
          "hgvs_c": "c.8C>T",
          "hgvs_p": "p.Ala3Val",
          "transcript": "ENST00000882552.1",
          "protein_id": "ENSP00000552611.1",
          "transcript_support_level": null,
          "aa_start": 3,
          "aa_end": null,
          "aa_length": 501,
          "cds_start": 8,
          "cds_end": null,
          "cds_length": 1506,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000882552.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRAF2",
          "gene_hgnc_id": 12032,
          "hgvs_c": "c.8C>T",
          "hgvs_p": "p.Ala3Val",
          "transcript": "ENST00000882553.1",
          "protein_id": "ENSP00000552612.1",
          "transcript_support_level": null,
          "aa_start": 3,
          "aa_end": null,
          "aa_length": 501,
          "cds_start": 8,
          "cds_end": null,
          "cds_length": 1506,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000882553.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRAF2",
          "gene_hgnc_id": 12032,
          "hgvs_c": "c.8C>T",
          "hgvs_p": "p.Ala3Val",
          "transcript": "ENST00000882554.1",
          "protein_id": "ENSP00000552613.1",
          "transcript_support_level": null,
          "aa_start": 3,
          "aa_end": null,
          "aa_length": 501,
          "cds_start": 8,
          "cds_end": null,
          "cds_length": 1506,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000882554.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRAF2",
          "gene_hgnc_id": 12032,
          "hgvs_c": "c.8C>T",
          "hgvs_p": "p.Ala3Val",
          "transcript": "ENST00000882555.1",
          "protein_id": "ENSP00000552614.1",
          "transcript_support_level": null,
          "aa_start": 3,
          "aa_end": null,
          "aa_length": 501,
          "cds_start": 8,
          "cds_end": null,
          "cds_length": 1506,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000882555.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRAF2",
          "gene_hgnc_id": 12032,
          "hgvs_c": "c.8C>T",
          "hgvs_p": "p.Ala3Val",
          "transcript": "ENST00000882560.1",
          "protein_id": "ENSP00000552619.1",
          "transcript_support_level": null,
          "aa_start": 3,
          "aa_end": null,
          "aa_length": 501,
          "cds_start": 8,
          "cds_end": null,
          "cds_length": 1506,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000882560.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRAF2",
          "gene_hgnc_id": 12032,
          "hgvs_c": "c.8C>T",
          "hgvs_p": "p.Ala3Val",
          "transcript": "ENST00000882562.1",
          "protein_id": "ENSP00000552621.1",
          "transcript_support_level": null,
          "aa_start": 3,
          "aa_end": null,
          "aa_length": 501,
          "cds_start": 8,
          "cds_end": null,
          "cds_length": 1506,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000882562.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRAF2",
          "gene_hgnc_id": 12032,
          "hgvs_c": "c.8C>T",
          "hgvs_p": "p.Ala3Val",
          "transcript": "ENST00000882563.1",
          "protein_id": "ENSP00000552622.1",
          "transcript_support_level": null,
          "aa_start": 3,
          "aa_end": null,
          "aa_length": 501,
          "cds_start": 8,
          "cds_end": null,
          "cds_length": 1506,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000882563.1"
        },
        {
          "aa_ref": "A",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
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          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRAF2",
          "gene_hgnc_id": 12032,
          "hgvs_c": "c.8C>T",
          "hgvs_p": "p.Ala3Val",
          "transcript": "ENST00000882570.1",
          "protein_id": "ENSP00000552629.1",
          "transcript_support_level": null,
          "aa_start": 3,
          "aa_end": null,
          "aa_length": 501,
          "cds_start": 8,
          "cds_end": null,
          "cds_length": 1506,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000882570.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRAF2",
          "gene_hgnc_id": 12032,
          "hgvs_c": "c.8C>T",
          "hgvs_p": "p.Ala3Val",
          "transcript": "ENST00000882572.1",
          "protein_id": "ENSP00000552631.1",
          "transcript_support_level": null,
          "aa_start": 3,
          "aa_end": null,
          "aa_length": 501,
          "cds_start": 8,
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          "cds_length": 1506,
          "cdna_start": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000882572.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRAF2",
          "gene_hgnc_id": 12032,
          "hgvs_c": "c.8C>T",
          "hgvs_p": "p.Ala3Val",
          "transcript": "ENST00000882573.1",
          "protein_id": "ENSP00000552632.1",
          "transcript_support_level": null,
          "aa_start": 3,
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          "aa_length": 501,
          "cds_start": 8,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
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          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRAF2",
          "gene_hgnc_id": 12032,
          "hgvs_c": "c.8C>T",
          "hgvs_p": "p.Ala3Val",
          "transcript": "ENST00000882574.1",
          "protein_id": "ENSP00000552633.1",
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          "cds_start": 8,
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          "cdna_start": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000882574.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 2,
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          "exon_count": 11,
          "intron_rank": null,
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          "gene_symbol": "TRAF2",
          "gene_hgnc_id": 12032,
          "hgvs_c": "c.8C>T",
          "hgvs_p": "p.Ala3Val",
          "transcript": "ENST00000882575.1",
          "protein_id": "ENSP00000552634.1",
          "transcript_support_level": null,
          "aa_start": 3,
          "aa_end": null,
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          "cds_start": 8,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000882575.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRAF2",
          "gene_hgnc_id": 12032,
          "hgvs_c": "c.8C>T",
          "hgvs_p": "p.Ala3Val",
          "transcript": "ENST00000882576.1",
          "protein_id": "ENSP00000552635.1",
          "transcript_support_level": null,
          "aa_start": 3,
          "aa_end": null,
          "aa_length": 501,
          "cds_start": 8,
          "cds_end": null,
          "cds_length": 1506,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000882576.1"
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      "gene_symbol": "TRAF2",
      "gene_hgnc_id": 12032,
      "dbsnp": "rs369489108",
      "frequency_reference_population": 0.0000464896,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 75,
      "gnomad_exomes_af": 0.0000479104,
      "gnomad_genomes_af": 0.0000328506,
      "gnomad_exomes_ac": 70,
      "gnomad_genomes_ac": 5,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.14270475506782532,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.077,
      "revel_prediction": "Benign",
      "alphamissense_score": 0.1428,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.26,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 3.247,
      "phylop100way_prediction": "Benign",
      "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": -6,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "BP4_Moderate,BS2",
      "acmg_by_gene": [
        {
          "score": -6,
          "benign_score": 6,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Moderate",
            "BS2"
          ],
          "verdict": "Likely_benign",
          "transcript": "NM_021138.4",
          "gene_symbol": "TRAF2",
          "hgnc_id": 12032,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.8C>T",
          "hgvs_p": "p.Ala3Val"
        }
      ],
      "clinvar_disease": "not specified",
      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "US:1",
      "phenotype_combined": "not specified",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
    }
  ],
  "message": null
}