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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: 8-141430961-A-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=141430961&ref=A&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "8",
      "pos": 141430961,
      "ref": "A",
      "alt": "G",
      "effect": "missense_variant",
      "transcript": "NM_032611.3",
      "consequences": [
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PTP4A3",
          "gene_hgnc_id": 9636,
          "hgvs_c": "c.439A>G",
          "hgvs_p": "p.Thr147Ala",
          "transcript": "NM_032611.3",
          "protein_id": "NP_116000.1",
          "transcript_support_level": null,
          "aa_start": 147,
          "aa_end": null,
          "aa_length": 173,
          "cds_start": 439,
          "cds_end": null,
          "cds_length": 522,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000521578.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_032611.3"
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PTP4A3",
          "gene_hgnc_id": 9636,
          "hgvs_c": "c.439A>G",
          "hgvs_p": "p.Thr147Ala",
          "transcript": "ENST00000521578.6",
          "protein_id": "ENSP00000428976.1",
          "transcript_support_level": 5,
          "aa_start": 147,
          "aa_end": null,
          "aa_length": 173,
          "cds_start": 439,
          "cds_end": null,
          "cds_length": 522,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_032611.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000521578.6"
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PTP4A3",
          "gene_hgnc_id": 9636,
          "hgvs_c": "c.439A>G",
          "hgvs_p": "p.Thr147Ala",
          "transcript": "ENST00000329397.6",
          "protein_id": "ENSP00000332274.1",
          "transcript_support_level": 1,
          "aa_start": 147,
          "aa_end": null,
          "aa_length": 173,
          "cds_start": 439,
          "cds_end": null,
          "cds_length": 522,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000329397.6"
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PTP4A3",
          "gene_hgnc_id": 9636,
          "hgvs_c": "c.439A>G",
          "hgvs_p": "p.Thr147Ala",
          "transcript": "ENST00000349124.3",
          "protein_id": "ENSP00000331730.2",
          "transcript_support_level": 1,
          "aa_start": 147,
          "aa_end": null,
          "aa_length": 173,
          "cds_start": 439,
          "cds_end": null,
          "cds_length": 522,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000349124.3"
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PTP4A3",
          "gene_hgnc_id": 9636,
          "hgvs_c": "c.577A>G",
          "hgvs_p": "p.Thr193Ala",
          "transcript": "ENST00000903103.1",
          "protein_id": "ENSP00000573162.1",
          "transcript_support_level": null,
          "aa_start": 193,
          "aa_end": null,
          "aa_length": 219,
          "cds_start": 577,
          "cds_end": null,
          "cds_length": 660,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000903103.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PTP4A3",
          "gene_hgnc_id": 9636,
          "hgvs_c": "c.499A>G",
          "hgvs_p": "p.Thr167Ala",
          "transcript": "ENST00000903099.1",
          "protein_id": "ENSP00000573158.1",
          "transcript_support_level": null,
          "aa_start": 167,
          "aa_end": null,
          "aa_length": 193,
          "cds_start": 499,
          "cds_end": null,
          "cds_length": 582,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000903099.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PTP4A3",
          "gene_hgnc_id": 9636,
          "hgvs_c": "c.439A>G",
          "hgvs_p": "p.Thr147Ala",
          "transcript": "NM_001438241.1",
          "protein_id": "NP_001425170.1",
          "transcript_support_level": null,
          "aa_start": 147,
          "aa_end": null,
          "aa_length": 173,
          "cds_start": 439,
          "cds_end": null,
          "cds_length": 522,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001438241.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PTP4A3",
          "gene_hgnc_id": 9636,
          "hgvs_c": "c.439A>G",
          "hgvs_p": "p.Thr147Ala",
          "transcript": "NM_001438242.1",
          "protein_id": "NP_001425171.1",
          "transcript_support_level": null,
          "aa_start": 147,
          "aa_end": null,
          "aa_length": 173,
          "cds_start": 439,
          "cds_end": null,
          "cds_length": 522,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001438242.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PTP4A3",
          "gene_hgnc_id": 9636,
          "hgvs_c": "c.439A>G",
          "hgvs_p": "p.Thr147Ala",
          "transcript": "ENST00000680615.1",
          "protein_id": "ENSP00000505068.1",
          "transcript_support_level": null,
          "aa_start": 147,
          "aa_end": null,
          "aa_length": 173,
          "cds_start": 439,
          "cds_end": null,
          "cds_length": 522,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000680615.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PTP4A3",
          "gene_hgnc_id": 9636,
          "hgvs_c": "c.439A>G",
          "hgvs_p": "p.Thr147Ala",
          "transcript": "ENST00000903073.1",
          "protein_id": "ENSP00000573132.1",
          "transcript_support_level": null,
          "aa_start": 147,
          "aa_end": null,
          "aa_length": 173,
          "cds_start": 439,
          "cds_end": null,
          "cds_length": 522,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000903073.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PTP4A3",
          "gene_hgnc_id": 9636,
          "hgvs_c": "c.439A>G",
          "hgvs_p": "p.Thr147Ala",
          "transcript": "ENST00000903074.1",
          "protein_id": "ENSP00000573133.1",
          "transcript_support_level": null,
          "aa_start": 147,
          "aa_end": null,
          "aa_length": 173,
          "cds_start": 439,
          "cds_end": null,
          "cds_length": 522,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000903074.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PTP4A3",
          "gene_hgnc_id": 9636,
          "hgvs_c": "c.439A>G",
          "hgvs_p": "p.Thr147Ala",
          "transcript": "ENST00000903077.1",
          "protein_id": "ENSP00000573136.1",
          "transcript_support_level": null,
          "aa_start": 147,
          "aa_end": null,
          "aa_length": 173,
          "cds_start": 439,
          "cds_end": null,
          "cds_length": 522,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000903077.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PTP4A3",
          "gene_hgnc_id": 9636,
          "hgvs_c": "c.439A>G",
          "hgvs_p": "p.Thr147Ala",
          "transcript": "ENST00000903078.1",
          "protein_id": "ENSP00000573137.1",
          "transcript_support_level": null,
          "aa_start": 147,
          "aa_end": null,
          "aa_length": 173,
          "cds_start": 439,
          "cds_end": null,
          "cds_length": 522,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000903078.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PTP4A3",
          "gene_hgnc_id": 9636,
          "hgvs_c": "c.439A>G",
          "hgvs_p": "p.Thr147Ala",
          "transcript": "ENST00000903080.1",
          "protein_id": "ENSP00000573139.1",
          "transcript_support_level": null,
          "aa_start": 147,
          "aa_end": null,
          "aa_length": 173,
          "cds_start": 439,
          "cds_end": null,
          "cds_length": 522,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000903080.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PTP4A3",
          "gene_hgnc_id": 9636,
          "hgvs_c": "c.439A>G",
          "hgvs_p": "p.Thr147Ala",
          "transcript": "ENST00000903082.1",
          "protein_id": "ENSP00000573141.1",
          "transcript_support_level": null,
          "aa_start": 147,
          "aa_end": null,
          "aa_length": 173,
          "cds_start": 439,
          "cds_end": null,
          "cds_length": 522,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000903082.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PTP4A3",
          "gene_hgnc_id": 9636,
          "hgvs_c": "c.439A>G",
          "hgvs_p": "p.Thr147Ala",
          "transcript": "ENST00000903083.1",
          "protein_id": "ENSP00000573142.1",
          "transcript_support_level": null,
          "aa_start": 147,
          "aa_end": null,
          "aa_length": 173,
          "cds_start": 439,
          "cds_end": null,
          "cds_length": 522,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000903083.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PTP4A3",
          "gene_hgnc_id": 9636,
          "hgvs_c": "c.439A>G",
          "hgvs_p": "p.Thr147Ala",
          "transcript": "ENST00000903084.1",
          "protein_id": "ENSP00000573143.1",
          "transcript_support_level": null,
          "aa_start": 147,
          "aa_end": null,
          "aa_length": 173,
          "cds_start": 439,
          "cds_end": null,
          "cds_length": 522,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000903084.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PTP4A3",
          "gene_hgnc_id": 9636,
          "hgvs_c": "c.439A>G",
          "hgvs_p": "p.Thr147Ala",
          "transcript": "ENST00000903085.1",
          "protein_id": "ENSP00000573144.1",
          "transcript_support_level": null,
          "aa_start": 147,
          "aa_end": null,
          "aa_length": 173,
          "cds_start": 439,
          "cds_end": null,
          "cds_length": 522,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000903085.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PTP4A3",
          "gene_hgnc_id": 9636,
          "hgvs_c": "c.439A>G",
          "hgvs_p": "p.Thr147Ala",
          "transcript": "ENST00000903086.1",
          "protein_id": "ENSP00000573145.1",
          "transcript_support_level": null,
          "aa_start": 147,
          "aa_end": null,
          "aa_length": 173,
          "cds_start": 439,
          "cds_end": null,
          "cds_length": 522,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000903086.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PTP4A3",
          "gene_hgnc_id": 9636,
          "hgvs_c": "c.439A>G",
          "hgvs_p": "p.Thr147Ala",
          "transcript": "ENST00000903087.1",
          "protein_id": "ENSP00000573146.1",
          "transcript_support_level": null,
          "aa_start": 147,
          "aa_end": null,
          "aa_length": 173,
          "cds_start": 439,
          "cds_end": null,
          "cds_length": 522,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
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        {
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          "gene_symbol": "PTP4A3",
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          "transcript": "XM_047421306.1",
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          "feature": "XM_047421306.1"
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      ],
      "gene_symbol": "PTP4A3",
      "gene_hgnc_id": 9636,
      "dbsnp": "rs201651447",
      "frequency_reference_population": 0.0000043395457,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 7,
      "gnomad_exomes_af": 0.00000342247,
      "gnomad_genomes_af": 0.000013146,
      "gnomad_exomes_ac": 5,
      "gnomad_genomes_ac": 2,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.13772952556610107,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.109,
      "revel_prediction": "Benign",
      "alphamissense_score": 0.0716,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.33,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 0.024,
      "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": 0,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PM2,BP4_Moderate",
      "acmg_by_gene": [
        {
          "score": 0,
          "benign_score": 2,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Moderate"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "NM_032611.3",
          "gene_symbol": "PTP4A3",
          "hgnc_id": 9636,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.439A>G",
          "hgvs_p": "p.Thr147Ala"
        }
      ],
      "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
}