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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: 7-151565741-G-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=151565741&ref=G&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "7",
      "pos": 151565741,
      "ref": "G",
      "alt": "C",
      "effect": "missense_variant",
      "transcript": "ENST00000287878.9",
      "consequences": [
        {
          "aa_ref": "L",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRKAG2",
          "gene_hgnc_id": 9386,
          "hgvs_c": "c.1378C>G",
          "hgvs_p": "p.Leu460Val",
          "transcript": "NM_016203.4",
          "protein_id": "NP_057287.2",
          "transcript_support_level": null,
          "aa_start": 460,
          "aa_end": null,
          "aa_length": 569,
          "cds_start": 1378,
          "cds_end": null,
          "cds_length": 1710,
          "cdna_start": 1873,
          "cdna_end": null,
          "cdna_length": 3279,
          "mane_select": "ENST00000287878.9",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "V",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRKAG2",
          "gene_hgnc_id": 9386,
          "hgvs_c": "c.1378C>G",
          "hgvs_p": "p.Leu460Val",
          "transcript": "ENST00000287878.9",
          "protein_id": "ENSP00000287878.3",
          "transcript_support_level": 1,
          "aa_start": 460,
          "aa_end": null,
          "aa_length": 569,
          "cds_start": 1378,
          "cds_end": null,
          "cds_length": 1710,
          "cdna_start": 1873,
          "cdna_end": null,
          "cdna_length": 3279,
          "mane_select": "NM_016203.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRKAG2",
          "gene_hgnc_id": 9386,
          "hgvs_c": "c.1246C>G",
          "hgvs_p": "p.Leu416Val",
          "transcript": "ENST00000392801.6",
          "protein_id": "ENSP00000376549.2",
          "transcript_support_level": 1,
          "aa_start": 416,
          "aa_end": null,
          "aa_length": 525,
          "cds_start": 1246,
          "cds_end": null,
          "cds_length": 1578,
          "cdna_start": 1689,
          "cdna_end": null,
          "cdna_length": 2281,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRKAG2",
          "gene_hgnc_id": 9386,
          "hgvs_c": "c.655C>G",
          "hgvs_p": "p.Leu219Val",
          "transcript": "ENST00000418337.6",
          "protein_id": "ENSP00000387386.2",
          "transcript_support_level": 1,
          "aa_start": 219,
          "aa_end": null,
          "aa_length": 328,
          "cds_start": 655,
          "cds_end": null,
          "cds_length": 987,
          "cdna_start": 909,
          "cdna_end": null,
          "cdna_length": 2318,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRKAG2",
          "gene_hgnc_id": 9386,
          "hgvs_c": "c.1378C>G",
          "hgvs_p": "p.Leu460Val",
          "transcript": "NM_001407021.1",
          "protein_id": "NP_001393950.1",
          "transcript_support_level": null,
          "aa_start": 460,
          "aa_end": null,
          "aa_length": 619,
          "cds_start": 1378,
          "cds_end": null,
          "cds_length": 1860,
          "cdna_start": 1873,
          "cdna_end": null,
          "cdna_length": 6570,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRKAG2",
          "gene_hgnc_id": 9386,
          "hgvs_c": "c.1375C>G",
          "hgvs_p": "p.Leu459Val",
          "transcript": "NM_001407022.1",
          "protein_id": "NP_001393951.1",
          "transcript_support_level": null,
          "aa_start": 459,
          "aa_end": null,
          "aa_length": 618,
          "cds_start": 1375,
          "cds_end": null,
          "cds_length": 1857,
          "cdna_start": 1870,
          "cdna_end": null,
          "cdna_length": 6567,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRKAG2",
          "gene_hgnc_id": 9386,
          "hgvs_c": "c.1375C>G",
          "hgvs_p": "p.Leu459Val",
          "transcript": "NM_001407023.1",
          "protein_id": "NP_001393952.1",
          "transcript_support_level": null,
          "aa_start": 459,
          "aa_end": null,
          "aa_length": 568,
          "cds_start": 1375,
          "cds_end": null,
          "cds_length": 1707,
          "cdna_start": 1870,
          "cdna_end": null,
          "cdna_length": 3276,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRKAG2",
          "gene_hgnc_id": 9386,
          "hgvs_c": "c.1375C>G",
          "hgvs_p": "p.Leu459Val",
          "transcript": "ENST00000652321.2",
          "protein_id": "ENSP00000498886.2",
          "transcript_support_level": null,
          "aa_start": 459,
          "aa_end": null,
          "aa_length": 568,
          "cds_start": 1375,
          "cds_end": null,
          "cds_length": 1707,
          "cdna_start": 1969,
          "cdna_end": null,
          "cdna_length": 3326,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRKAG2",
          "gene_hgnc_id": 9386,
          "hgvs_c": "c.1246C>G",
          "hgvs_p": "p.Leu416Val",
          "transcript": "NM_001040633.2",
          "protein_id": "NP_001035723.1",
          "transcript_support_level": null,
          "aa_start": 416,
          "aa_end": null,
          "aa_length": 525,
          "cds_start": 1246,
          "cds_end": null,
          "cds_length": 1578,
          "cdna_start": 1708,
          "cdna_end": null,
          "cdna_length": 3114,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRKAG2",
          "gene_hgnc_id": 9386,
          "hgvs_c": "c.1246C>G",
          "hgvs_p": "p.Leu416Val",
          "transcript": "NM_001407024.1",
          "protein_id": "NP_001393953.1",
          "transcript_support_level": null,
          "aa_start": 416,
          "aa_end": null,
          "aa_length": 525,
          "cds_start": 1246,
          "cds_end": null,
          "cds_length": 1578,
          "cdna_start": 1828,
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          "cdna_length": 3234,
          "mane_select": null,
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        },
        {
          "aa_ref": "L",
          "aa_alt": "V",
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          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
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          "gene_symbol": "PRKAG2",
          "gene_hgnc_id": 9386,
          "hgvs_c": "c.1246C>G",
          "hgvs_p": "p.Leu416Val",
          "transcript": "ENST00000651764.1",
          "protein_id": "ENSP00000498796.1",
          "transcript_support_level": null,
          "aa_start": 416,
          "aa_end": null,
          "aa_length": 525,
          "cds_start": 1246,
          "cds_end": null,
          "cds_length": 1578,
          "cdna_start": 1693,
          "cdna_end": null,
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
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          "exon_count": 16,
          "intron_rank": null,
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          "gene_symbol": "PRKAG2",
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          "hgvs_c": "c.1246C>G",
          "hgvs_p": "p.Leu416Val",
          "transcript": "ENST00000652159.1",
          "protein_id": "ENSP00000499025.1",
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          "cds_start": 1246,
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          "cdna_start": 1477,
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          "mane_select": null,
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        {
          "aa_ref": "L",
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 12,
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          "intron_rank": null,
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          "gene_symbol": "PRKAG2",
          "gene_hgnc_id": 9386,
          "hgvs_c": "c.1243C>G",
          "hgvs_p": "p.Leu415Val",
          "transcript": "NM_001407026.1",
          "protein_id": "NP_001393955.1",
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          "cds_start": 1243,
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          "cdna_start": 1705,
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        {
          "aa_ref": "L",
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          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
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          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRKAG2",
          "gene_hgnc_id": 9386,
          "hgvs_c": "c.1243C>G",
          "hgvs_p": "p.Leu415Val",
          "transcript": "NM_001407027.1",
          "protein_id": "NP_001393956.1",
          "transcript_support_level": null,
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          "cds_start": 1243,
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        {
          "aa_ref": "L",
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          "gene_symbol": "PRKAG2",
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          "hgvs_c": "c.1243C>G",
          "hgvs_p": "p.Leu415Val",
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        },
        {
          "aa_ref": "L",
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          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
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          "exon_count": 13,
          "intron_rank": null,
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          "gene_symbol": "PRKAG2",
          "gene_hgnc_id": 9386,
          "hgvs_c": "c.1006C>G",
          "hgvs_p": "p.Leu336Val",
          "transcript": "NM_001407028.1",
          "protein_id": "NP_001393957.1",
          "transcript_support_level": null,
          "aa_start": 336,
          "aa_end": null,
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          "cds_start": 1006,
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          "cdna_start": 1276,
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          "biotype": null,
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        },
        {
          "aa_ref": "L",
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          "protein_coding": true,
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          "exon_rank": 10,
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          "exon_count": 13,
          "intron_rank": null,
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          "gene_symbol": "PRKAG2",
          "gene_hgnc_id": 9386,
          "hgvs_c": "c.1003C>G",
          "hgvs_p": "p.Leu335Val",
          "transcript": "NM_001407029.1",
          "protein_id": "NP_001393958.1",
          "transcript_support_level": null,
          "aa_start": 335,
          "aa_end": null,
          "aa_length": 494,
          "cds_start": 1003,
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        },
        {
          "aa_ref": "L",
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          "gene_symbol": "PRKAG2",
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          "hgvs_c": "c.1090C>G",
          "hgvs_p": "p.Leu364Val",
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        },
        {
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          "intron_rank": null,
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          "gene_symbol": "PRKAG2",
          "gene_hgnc_id": 9386,
          "hgvs_c": "c.1087C>G",
          "hgvs_p": "p.Leu363Val",
          "transcript": "NM_001407031.1",
          "protein_id": "NP_001393960.1",
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          "feature": null
        },
        {
          "aa_ref": "L",
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          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
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          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PRKAG2",
          "gene_hgnc_id": 9386,
          "hgvs_c": "c.1060C>G",
          "hgvs_p": "p.Leu354Val",
          "transcript": "NM_001407032.1",
          "protein_id": "NP_001393961.1",
          "transcript_support_level": null,
          "aa_start": 354,
          "aa_end": null,
          "aa_length": 463,
          "cds_start": 1060,
          "cds_end": null,
          "cds_length": 1392,
          "cdna_start": 1356,
          "cdna_end": null,
          "cdna_length": 2762,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
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      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "US:1",
      "phenotype_combined": "Lethal congenital glycogen storage disease of heart|Left ventricular hypertrophy",
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  "message": null
}