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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: 17-62600821-G-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=62600821&ref=G&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "17",
      "pos": 62600821,
      "ref": "G",
      "alt": "T",
      "effect": "splice_donor_variant,intron_variant",
      "transcript": "ENST00000346027.10",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_donor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": 18,
          "intron_rank_end": null,
          "gene_symbol": "TLK2",
          "gene_hgnc_id": 11842,
          "hgvs_c": "c.1720+1G>T",
          "hgvs_p": null,
          "transcript": "NM_006852.6",
          "protein_id": "NP_006843.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 750,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2253,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5640,
          "mane_select": "ENST00000346027.10",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_donor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": 18,
          "intron_rank_end": null,
          "gene_symbol": "TLK2",
          "gene_hgnc_id": 11842,
          "hgvs_c": "c.1720+1G>T",
          "hgvs_p": null,
          "transcript": "ENST00000346027.10",
          "protein_id": "ENSP00000275780.7",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 750,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2253,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5640,
          "mane_select": "NM_006852.6",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_donor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": 19,
          "intron_rank_end": null,
          "gene_symbol": "TLK2",
          "gene_hgnc_id": 11842,
          "hgvs_c": "c.1786+1G>T",
          "hgvs_p": null,
          "transcript": "ENST00000326270.13",
          "protein_id": "ENSP00000316512.9",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 772,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2319,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3512,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_donor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": 17,
          "intron_rank_end": null,
          "gene_symbol": "TLK2",
          "gene_hgnc_id": 11842,
          "hgvs_c": "c.1624+1G>T",
          "hgvs_p": null,
          "transcript": "ENST00000343388.11",
          "protein_id": "ENSP00000340800.7",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 718,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2157,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3227,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_donor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": 19,
          "intron_rank_end": null,
          "gene_symbol": "TLK2",
          "gene_hgnc_id": 11842,
          "hgvs_c": "c.1273+1G>T",
          "hgvs_p": null,
          "transcript": "ENST00000582809.5",
          "protein_id": "ENSP00000463595.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 601,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1806,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3608,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_donor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": 19,
          "intron_rank_end": null,
          "gene_symbol": "TLK2",
          "gene_hgnc_id": 11842,
          "hgvs_c": "c.1786+1G>T",
          "hgvs_p": null,
          "transcript": "NM_001284333.3",
          "protein_id": "NP_001271262.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 772,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2319,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5410,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_donor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": 17,
          "intron_rank_end": null,
          "gene_symbol": "TLK2",
          "gene_hgnc_id": 11842,
          "hgvs_c": "c.1762+1G>T",
          "hgvs_p": null,
          "transcript": "NM_001375269.1",
          "protein_id": "NP_001362198.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 764,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2295,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5245,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_donor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": 18,
          "intron_rank_end": null,
          "gene_symbol": "TLK2",
          "gene_hgnc_id": 11842,
          "hgvs_c": "c.1720+1G>T",
          "hgvs_p": null,
          "transcript": "NM_001375270.1",
          "protein_id": "NP_001362199.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 750,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2253,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5638,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_donor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": 18,
          "intron_rank_end": null,
          "gene_symbol": "TLK2",
          "gene_hgnc_id": 11842,
          "hgvs_c": "c.1720+1G>T",
          "hgvs_p": null,
          "transcript": "NM_001375271.1",
          "protein_id": "NP_001362200.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 750,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2253,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5442,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_donor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": 18,
          "intron_rank_end": null,
          "gene_symbol": "TLK2",
          "gene_hgnc_id": 11842,
          "hgvs_c": "c.1720+1G>T",
          "hgvs_p": null,
          "transcript": "ENST00000682085.1",
          "protein_id": "ENSP00000506744.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 750,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2253,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5377,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_donor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": 17,
          "intron_rank_end": null,
          "gene_symbol": "TLK2",
          "gene_hgnc_id": 11842,
          "hgvs_c": "c.1624+1G>T",
          "hgvs_p": null,
          "transcript": "NM_001284363.1",
          "protein_id": "NP_001271292.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 718,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2157,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5098,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_donor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": 17,
          "intron_rank_end": null,
          "gene_symbol": "TLK2",
          "gene_hgnc_id": 11842,
          "hgvs_c": "c.1624+1G>T",
          "hgvs_p": null,
          "transcript": "NM_001375272.1",
          "protein_id": "NP_001362201.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 718,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2157,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5542,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_donor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": 17,
          "intron_rank_end": null,
          "gene_symbol": "TLK2",
          "gene_hgnc_id": 11842,
          "hgvs_c": "c.1624+1G>T",
          "hgvs_p": null,
          "transcript": "NM_001438203.1",
          "protein_id": "NP_001425132.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 718,
          "cds_start": -4,
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          "cds_length": 2157,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5251,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_donor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": 17,
          "intron_rank_end": null,
          "gene_symbol": "TLK2",
          "gene_hgnc_id": 11842,
          "hgvs_c": "c.1624+1G>T",
          "hgvs_p": null,
          "transcript": "NM_001438204.1",
          "protein_id": "NP_001425133.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 718,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2157,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5346,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_donor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": 17,
          "intron_rank_end": null,
          "gene_symbol": "TLK2",
          "gene_hgnc_id": 11842,
          "hgvs_c": "c.1624+1G>T",
          "hgvs_p": null,
          "transcript": "ENST00000683104.1",
          "protein_id": "ENSP00000508242.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 718,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2157,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5350,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_donor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": 16,
          "intron_rank_end": null,
          "gene_symbol": "TLK2",
          "gene_hgnc_id": 11842,
          "hgvs_c": "c.1531+1G>T",
          "hgvs_p": null,
          "transcript": "NM_001438205.1",
          "protein_id": "NP_001425134.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 687,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2064,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5158,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_donor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": 16,
          "intron_rank_end": null,
          "gene_symbol": "TLK2",
          "gene_hgnc_id": 11842,
          "hgvs_c": "c.1531+1G>T",
          "hgvs_p": null,
          "transcript": "ENST00000684012.1",
          "protein_id": "ENSP00000507902.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 687,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2064,
          "cdna_start": null,
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          "cdna_length": 5115,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_donor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": 16,
          "intron_rank_end": null,
          "gene_symbol": "TLK2",
          "gene_hgnc_id": 11842,
          "hgvs_c": "c.1531+1G>T",
          "hgvs_p": null,
          "transcript": "ENST00000684440.1",
          "protein_id": "ENSP00000507712.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 687,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2064,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5060,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_donor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 19,
          "intron_rank": 15,
          "intron_rank_end": null,
          "gene_symbol": "TLK2",
          "gene_hgnc_id": 11842,
          "hgvs_c": "c.1513+1G>T",
          "hgvs_p": null,
          "transcript": "ENST00000684553.1",
          "protein_id": "ENSP00000507681.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 681,
          "cds_start": -4,
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          "cds_length": 2046,
          "cdna_start": null,
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          "cdna_length": 4925,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_donor_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": 16,
          "intron_rank_end": null,
          "gene_symbol": "TLK2",
          "gene_hgnc_id": 11842,
          "hgvs_c": "c.1456+1G>T",
          "hgvs_p": null,
          "transcript": "ENST00000682075.1",
          "protein_id": "ENSP00000506988.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 662,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1989,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4903,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
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      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": 11,
      "acmg_classification": "Pathogenic",
      "acmg_criteria": "PVS1,PM2,PP5",
      "acmg_by_gene": [
        {
          "score": 11,
          "benign_score": 0,
          "pathogenic_score": 11,
          "criteria": [
            "PVS1",
            "PM2",
            "PP5"
          ],
          "verdict": "Pathogenic",
          "transcript": "ENST00000346027.10",
          "gene_symbol": "TLK2",
          "hgnc_id": 11842,
          "effects": [
            "splice_donor_variant",
            "intron_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.1720+1G>T",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": " autosomal dominant 57,Intellectual disability",
      "clinvar_classification": "Pathogenic",
      "clinvar_review_status": "no assertion criteria provided",
      "clinvar_submissions_summary": "null",
      "phenotype_combined": "Intellectual disability, autosomal dominant 57",
      "pathogenicity_classification_combined": "Pathogenic",
      "custom_annotations": null
    }
  ],
  "message": null
}