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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: 7-151570206-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=151570206&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "7",
      "pos": 151570206,
      "ref": "T",
      "alt": "C",
      "effect": "synonymous_variant",
      "transcript": "NM_001407021.1",
      "consequences": [
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRKAG2",
          "gene_hgnc_id": 9386,
          "hgvs_c": "c.1071A>G",
          "hgvs_p": "p.Thr357Thr",
          "transcript": "NM_016203.4",
          "protein_id": "NP_057287.2",
          "transcript_support_level": null,
          "aa_start": 357,
          "aa_end": null,
          "aa_length": 569,
          "cds_start": 1071,
          "cds_end": null,
          "cds_length": 1710,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000287878.9",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_016203.4"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRKAG2",
          "gene_hgnc_id": 9386,
          "hgvs_c": "c.1071A>G",
          "hgvs_p": "p.Thr357Thr",
          "transcript": "ENST00000287878.9",
          "protein_id": "ENSP00000287878.3",
          "transcript_support_level": 1,
          "aa_start": 357,
          "aa_end": null,
          "aa_length": 569,
          "cds_start": 1071,
          "cds_end": null,
          "cds_length": 1710,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_016203.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000287878.9"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRKAG2",
          "gene_hgnc_id": 9386,
          "hgvs_c": "c.939A>G",
          "hgvs_p": "p.Thr313Thr",
          "transcript": "ENST00000392801.6",
          "protein_id": "ENSP00000376549.2",
          "transcript_support_level": 1,
          "aa_start": 313,
          "aa_end": null,
          "aa_length": 525,
          "cds_start": 939,
          "cds_end": null,
          "cds_length": 1578,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000392801.6"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRKAG2",
          "gene_hgnc_id": 9386,
          "hgvs_c": "c.348A>G",
          "hgvs_p": "p.Thr116Thr",
          "transcript": "ENST00000418337.6",
          "protein_id": "ENSP00000387386.2",
          "transcript_support_level": 1,
          "aa_start": 116,
          "aa_end": null,
          "aa_length": 328,
          "cds_start": 348,
          "cds_end": null,
          "cds_length": 987,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000418337.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRKAG2",
          "gene_hgnc_id": 9386,
          "hgvs_c": "n.*311A>G",
          "hgvs_p": null,
          "transcript": "ENST00000488258.5",
          "protein_id": "ENSP00000420783.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000488258.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRKAG2",
          "gene_hgnc_id": 9386,
          "hgvs_c": "n.*311A>G",
          "hgvs_p": null,
          "transcript": "ENST00000488258.5",
          "protein_id": "ENSP00000420783.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000488258.5"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRKAG2",
          "gene_hgnc_id": 9386,
          "hgvs_c": "c.1071A>G",
          "hgvs_p": "p.Thr357Thr",
          "transcript": "NM_001407021.1",
          "protein_id": "NP_001393950.1",
          "transcript_support_level": null,
          "aa_start": 357,
          "aa_end": null,
          "aa_length": 619,
          "cds_start": 1071,
          "cds_end": null,
          "cds_length": 1860,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001407021.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRKAG2",
          "gene_hgnc_id": 9386,
          "hgvs_c": "c.1068A>G",
          "hgvs_p": "p.Thr356Thr",
          "transcript": "NM_001407022.1",
          "protein_id": "NP_001393951.1",
          "transcript_support_level": null,
          "aa_start": 356,
          "aa_end": null,
          "aa_length": 618,
          "cds_start": 1068,
          "cds_end": null,
          "cds_length": 1857,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001407022.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRKAG2",
          "gene_hgnc_id": 9386,
          "hgvs_c": "c.1068A>G",
          "hgvs_p": "p.Thr356Thr",
          "transcript": "NM_001407023.1",
          "protein_id": "NP_001393952.1",
          "transcript_support_level": null,
          "aa_start": 356,
          "aa_end": null,
          "aa_length": 568,
          "cds_start": 1068,
          "cds_end": null,
          "cds_length": 1707,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001407023.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRKAG2",
          "gene_hgnc_id": 9386,
          "hgvs_c": "c.1068A>G",
          "hgvs_p": "p.Thr356Thr",
          "transcript": "ENST00000652321.2",
          "protein_id": "ENSP00000498886.2",
          "transcript_support_level": null,
          "aa_start": 356,
          "aa_end": null,
          "aa_length": 568,
          "cds_start": 1068,
          "cds_end": null,
          "cds_length": 1707,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000652321.2"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRKAG2",
          "gene_hgnc_id": 9386,
          "hgvs_c": "c.1065A>G",
          "hgvs_p": "p.Thr355Thr",
          "transcript": "ENST00000867883.1",
          "protein_id": "ENSP00000537942.1",
          "transcript_support_level": null,
          "aa_start": 355,
          "aa_end": null,
          "aa_length": 567,
          "cds_start": 1065,
          "cds_end": null,
          "cds_length": 1704,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000867883.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRKAG2",
          "gene_hgnc_id": 9386,
          "hgvs_c": "c.1062A>G",
          "hgvs_p": "p.Thr354Thr",
          "transcript": "ENST00000867885.1",
          "protein_id": "ENSP00000537944.1",
          "transcript_support_level": null,
          "aa_start": 354,
          "aa_end": null,
          "aa_length": 566,
          "cds_start": 1062,
          "cds_end": null,
          "cds_length": 1701,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000867885.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRKAG2",
          "gene_hgnc_id": 9386,
          "hgvs_c": "c.939A>G",
          "hgvs_p": "p.Thr313Thr",
          "transcript": "NM_001040633.2",
          "protein_id": "NP_001035723.1",
          "transcript_support_level": null,
          "aa_start": 313,
          "aa_end": null,
          "aa_length": 525,
          "cds_start": 939,
          "cds_end": null,
          "cds_length": 1578,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001040633.2"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRKAG2",
          "gene_hgnc_id": 9386,
          "hgvs_c": "c.939A>G",
          "hgvs_p": "p.Thr313Thr",
          "transcript": "NM_001407024.1",
          "protein_id": "NP_001393953.1",
          "transcript_support_level": null,
          "aa_start": 313,
          "aa_end": null,
          "aa_length": 525,
          "cds_start": 939,
          "cds_end": null,
          "cds_length": 1578,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001407024.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRKAG2",
          "gene_hgnc_id": 9386,
          "hgvs_c": "c.939A>G",
          "hgvs_p": "p.Thr313Thr",
          "transcript": "ENST00000651764.1",
          "protein_id": "ENSP00000498796.1",
          "transcript_support_level": null,
          "aa_start": 313,
          "aa_end": null,
          "aa_length": 525,
          "cds_start": 939,
          "cds_end": null,
          "cds_length": 1578,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000651764.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRKAG2",
          "gene_hgnc_id": 9386,
          "hgvs_c": "c.939A>G",
          "hgvs_p": "p.Thr313Thr",
          "transcript": "ENST00000652159.1",
          "protein_id": "ENSP00000499025.1",
          "transcript_support_level": null,
          "aa_start": 313,
          "aa_end": null,
          "aa_length": 525,
          "cds_start": 939,
          "cds_end": null,
          "cds_length": 1578,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000652159.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRKAG2",
          "gene_hgnc_id": 9386,
          "hgvs_c": "c.936A>G",
          "hgvs_p": "p.Thr312Thr",
          "transcript": "NM_001407026.1",
          "protein_id": "NP_001393955.1",
          "transcript_support_level": null,
          "aa_start": 312,
          "aa_end": null,
          "aa_length": 524,
          "cds_start": 936,
          "cds_end": null,
          "cds_length": 1575,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001407026.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRKAG2",
          "gene_hgnc_id": 9386,
          "hgvs_c": "c.936A>G",
          "hgvs_p": "p.Thr312Thr",
          "transcript": "NM_001407027.1",
          "protein_id": "NP_001393956.1",
          "transcript_support_level": null,
          "aa_start": 312,
          "aa_end": null,
          "aa_length": 524,
          "cds_start": 936,
          "cds_end": null,
          "cds_length": 1575,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001407027.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRKAG2",
          "gene_hgnc_id": 9386,
          "hgvs_c": "c.936A>G",
          "hgvs_p": "p.Thr312Thr",
          "transcript": "ENST00000652047.1",
          "protein_id": "ENSP00000499111.1",
          "transcript_support_level": null,
          "aa_start": 312,
          "aa_end": null,
          "aa_length": 524,
          "cds_start": 936,
          "cds_end": null,
          "cds_length": 1575,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000652047.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRKAG2",
          "gene_hgnc_id": 9386,
          "hgvs_c": "c.930A>G",
          "hgvs_p": "p.Thr310Thr",
          "transcript": "ENST00000867884.1",
          "protein_id": "ENSP00000537943.1",
          "transcript_support_level": null,
          "aa_start": 310,
          "aa_end": null,
          "aa_length": 522,
          "cds_start": 930,
          "cds_end": null,
          "cds_length": 1569,
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          "transcript": "ENST00000651836.1",
          "protein_id": "ENSP00000499156.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000651836.1"
        }
      ],
      "gene_symbol": "PRKAG2",
      "gene_hgnc_id": 9386,
      "dbsnp": "rs397517260",
      "frequency_reference_population": null,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 0,
      "gnomad_exomes_af": null,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": null,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": null,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.5799999833106995,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0.009999999776482582,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.58,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -0.55,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0.01,
      "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": -5,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
      "acmg_by_gene": [
        {
          "score": -5,
          "benign_score": 7,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Strong",
            "BP6_Moderate",
            "BP7"
          ],
          "verdict": "Likely_benign",
          "transcript": "NM_001407021.1",
          "gene_symbol": "PRKAG2",
          "hgnc_id": 9386,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.1071A>G",
          "hgvs_p": "p.Thr357Thr"
        }
      ],
      "clinvar_disease": "Cardiomyopathy",
      "clinvar_classification": "Likely benign",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "LB:1",
      "phenotype_combined": "Cardiomyopathy",
      "pathogenicity_classification_combined": "Likely benign",
      "custom_annotations": null
    }
  ],
  "message": null
}