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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: 19-40277925-T-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=40277925&ref=T&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "19",
      "pos": 40277925,
      "ref": "T",
      "alt": "G",
      "effect": "intron_variant",
      "transcript": "NM_001626.6",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "AKT2",
          "gene_hgnc_id": 392,
          "hgvs_c": "c.-85+7256A>C",
          "hgvs_p": null,
          "transcript": "NM_001626.6",
          "protein_id": "NP_001617.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 481,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1446,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000392038.7",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001626.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "AKT2",
          "gene_hgnc_id": 392,
          "hgvs_c": "c.-85+7256A>C",
          "hgvs_p": null,
          "transcript": "ENST00000392038.7",
          "protein_id": "ENSP00000375892.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 481,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1446,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001626.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000392038.7"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "AKT2",
          "gene_hgnc_id": 392,
          "hgvs_c": "c.-141+7256A>C",
          "hgvs_p": null,
          "transcript": "ENST00000579047.5",
          "protein_id": "ENSP00000471369.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 450,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1353,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000579047.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "AKT2",
          "gene_hgnc_id": 392,
          "hgvs_c": "n.-131+7256A>C",
          "hgvs_p": null,
          "transcript": "ENST00000391844.8",
          "protein_id": "ENSP00000375719.4",
          "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": "ENST00000391844.8"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "AKT2",
          "gene_hgnc_id": 392,
          "hgvs_c": "c.-85+7256A>C",
          "hgvs_p": null,
          "transcript": "ENST00000870029.1",
          "protein_id": "ENSP00000540088.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 510,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1533,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000870029.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "AKT2",
          "gene_hgnc_id": 392,
          "hgvs_c": "c.-197-1595A>C",
          "hgvs_p": null,
          "transcript": "ENST00000870030.1",
          "protein_id": "ENSP00000540089.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 481,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1446,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000870030.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "AKT2",
          "gene_hgnc_id": 392,
          "hgvs_c": "c.-85+6509A>C",
          "hgvs_p": null,
          "transcript": "ENST00000870031.1",
          "protein_id": "ENSP00000540090.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 481,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1446,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000870031.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "AKT2",
          "gene_hgnc_id": 392,
          "hgvs_c": "c.-85+1182A>C",
          "hgvs_p": null,
          "transcript": "ENST00000870032.1",
          "protein_id": "ENSP00000540091.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 481,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1446,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000870032.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "AKT2",
          "gene_hgnc_id": 392,
          "hgvs_c": "c.-85+2163A>C",
          "hgvs_p": null,
          "transcript": "ENST00000870033.1",
          "protein_id": "ENSP00000540092.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 481,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1446,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000870033.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "AKT2",
          "gene_hgnc_id": 392,
          "hgvs_c": "c.-85+1060A>C",
          "hgvs_p": null,
          "transcript": "ENST00000870034.1",
          "protein_id": "ENSP00000540093.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 481,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1446,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000870034.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "AKT2",
          "gene_hgnc_id": 392,
          "hgvs_c": "c.-85+4292A>C",
          "hgvs_p": null,
          "transcript": "ENST00000914212.1",
          "protein_id": "ENSP00000584271.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 481,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1446,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000914212.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "AKT2",
          "gene_hgnc_id": 392,
          "hgvs_c": "c.-85+4292A>C",
          "hgvs_p": null,
          "transcript": "ENST00000914213.1",
          "protein_id": "ENSP00000584272.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 481,
          "cds_start": null,
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          "cds_length": 1446,
          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000914213.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
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          "intron_rank": 1,
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          "gene_symbol": "AKT2",
          "gene_hgnc_id": 392,
          "hgvs_c": "c.-193+1182A>C",
          "hgvs_p": null,
          "transcript": "ENST00000948930.1",
          "protein_id": "ENSP00000618989.1",
          "transcript_support_level": null,
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          "aa_length": 481,
          "cds_start": null,
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          "feature": "ENST00000948930.1"
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        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 15,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "AKT2",
          "gene_hgnc_id": 392,
          "hgvs_c": "c.-187+1182A>C",
          "hgvs_p": null,
          "transcript": "ENST00000948931.1",
          "protein_id": "ENSP00000618990.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 481,
          "cds_start": null,
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          "cdna_start": null,
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          "biotype": "protein_coding",
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        },
        {
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          "gene_symbol": "AKT2",
          "gene_hgnc_id": 392,
          "hgvs_c": "c.-198+1182A>C",
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          "transcript": "ENST00000948932.1",
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          "cds_start": null,
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          "biotype": "protein_coding",
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        },
        {
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
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          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "AKT2",
          "gene_hgnc_id": 392,
          "hgvs_c": "c.-212+1182A>C",
          "hgvs_p": null,
          "transcript": "ENST00000948933.1",
          "protein_id": "ENSP00000618992.1",
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          "aa_start": null,
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          "cds_start": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000948933.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
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          ],
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          "exon_count": 15,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "AKT2",
          "gene_hgnc_id": 392,
          "hgvs_c": "c.-297+1182A>C",
          "hgvs_p": null,
          "transcript": "ENST00000948934.1",
          "protein_id": "ENSP00000618993.1",
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          "cds_start": null,
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          "cdna_start": null,
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          "biotype": "protein_coding",
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        },
        {
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          ],
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          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "AKT2",
          "gene_hgnc_id": 392,
          "hgvs_c": "c.-85+7256A>C",
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          "transcript": "ENST00000424901.5",
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        },
        {
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          "canonical": false,
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          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "AKT2",
          "gene_hgnc_id": 392,
          "hgvs_c": "c.-234+7256A>C",
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          "transcript": "NM_001243027.3",
          "protein_id": "NP_001229956.1",
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          "biotype": "protein_coding",
          "feature": "NM_001243027.3"
        },
        {
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          "strand": false,
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          ],
          "exon_rank": null,
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          "exon_count": 13,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "AKT2",
          "gene_hgnc_id": 392,
          "hgvs_c": "c.-141+7256A>C",
          "hgvs_p": null,
          "transcript": "NM_001243028.3",
          "protein_id": "NP_001229957.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 419,
          "cds_start": null,
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          "cds_length": 1260,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001243028.3"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": 1,
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}
For research and educational, non-commercial use only. Not for clinical or diagnostic use. GeneBe does not provide medical advice. Data use for AI modeling is prohibited: if used, the cost is $0.001 per byte of downloaded uncompressed data.