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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: 4-47665221-G-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=47665221&ref=G&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "4",
      "pos": 47665221,
      "ref": "G",
      "alt": "C",
      "effect": "missense_variant",
      "transcript": "NM_006587.4",
      "consequences": [
        {
          "aa_ref": "P",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CORIN",
          "gene_hgnc_id": 19012,
          "hgvs_c": "c.1400C>G",
          "hgvs_p": "p.Pro467Arg",
          "transcript": "NM_006587.4",
          "protein_id": "NP_006578.2",
          "transcript_support_level": null,
          "aa_start": 467,
          "aa_end": null,
          "aa_length": 1042,
          "cds_start": 1400,
          "cds_end": null,
          "cds_length": 3129,
          "cdna_start": 1518,
          "cdna_end": null,
          "cdna_length": 4967,
          "mane_select": "ENST00000273857.9",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_006587.4"
        },
        {
          "aa_ref": "P",
          "aa_alt": "R",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CORIN",
          "gene_hgnc_id": 19012,
          "hgvs_c": "c.1400C>G",
          "hgvs_p": "p.Pro467Arg",
          "transcript": "ENST00000273857.9",
          "protein_id": "ENSP00000273857.4",
          "transcript_support_level": 1,
          "aa_start": 467,
          "aa_end": null,
          "aa_length": 1042,
          "cds_start": 1400,
          "cds_end": null,
          "cds_length": 3129,
          "cdna_start": 1518,
          "cdna_end": null,
          "cdna_length": 4967,
          "mane_select": "NM_006587.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000273857.9"
        },
        {
          "aa_ref": "P",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CORIN",
          "gene_hgnc_id": 19012,
          "hgvs_c": "c.1400C>G",
          "hgvs_p": "p.Pro467Arg",
          "transcript": "ENST00000961995.1",
          "protein_id": "ENSP00000632054.1",
          "transcript_support_level": null,
          "aa_start": 467,
          "aa_end": null,
          "aa_length": 1067,
          "cds_start": 1400,
          "cds_end": null,
          "cds_length": 3204,
          "cdna_start": 1579,
          "cdna_end": null,
          "cdna_length": 3609,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000961995.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CORIN",
          "gene_hgnc_id": 19012,
          "hgvs_c": "c.1382C>G",
          "hgvs_p": "p.Pro461Arg",
          "transcript": "ENST00000961980.1",
          "protein_id": "ENSP00000632039.1",
          "transcript_support_level": null,
          "aa_start": 461,
          "aa_end": null,
          "aa_length": 1036,
          "cds_start": 1382,
          "cds_end": null,
          "cds_length": 3111,
          "cdna_start": 1561,
          "cdna_end": null,
          "cdna_length": 5012,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000961980.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CORIN",
          "gene_hgnc_id": 19012,
          "hgvs_c": "c.1319C>G",
          "hgvs_p": "p.Pro440Arg",
          "transcript": "ENST00000961985.1",
          "protein_id": "ENSP00000632044.1",
          "transcript_support_level": null,
          "aa_start": 440,
          "aa_end": null,
          "aa_length": 1015,
          "cds_start": 1319,
          "cds_end": null,
          "cds_length": 3048,
          "cdna_start": 1442,
          "cdna_end": null,
          "cdna_length": 4888,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000961985.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CORIN",
          "gene_hgnc_id": 19012,
          "hgvs_c": "c.1415C>G",
          "hgvs_p": "p.Pro472Arg",
          "transcript": "ENST00000961989.1",
          "protein_id": "ENSP00000632048.1",
          "transcript_support_level": null,
          "aa_start": 472,
          "aa_end": null,
          "aa_length": 1011,
          "cds_start": 1415,
          "cds_end": null,
          "cds_length": 3036,
          "cdna_start": 1533,
          "cdna_end": null,
          "cdna_length": 4872,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000961989.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CORIN",
          "gene_hgnc_id": 19012,
          "hgvs_c": "c.1400C>G",
          "hgvs_p": "p.Pro467Arg",
          "transcript": "ENST00000891633.1",
          "protein_id": "ENSP00000561692.1",
          "transcript_support_level": null,
          "aa_start": 467,
          "aa_end": null,
          "aa_length": 1006,
          "cds_start": 1400,
          "cds_end": null,
          "cds_length": 3021,
          "cdna_start": 1552,
          "cdna_end": null,
          "cdna_length": 4893,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000891633.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CORIN",
          "gene_hgnc_id": 19012,
          "hgvs_c": "c.1292C>G",
          "hgvs_p": "p.Pro431Arg",
          "transcript": "ENST00000891636.1",
          "protein_id": "ENSP00000561695.1",
          "transcript_support_level": null,
          "aa_start": 431,
          "aa_end": null,
          "aa_length": 1006,
          "cds_start": 1292,
          "cds_end": null,
          "cds_length": 3021,
          "cdna_start": 1475,
          "cdna_end": null,
          "cdna_length": 3687,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000891636.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CORIN",
          "gene_hgnc_id": 19012,
          "hgvs_c": "c.1289C>G",
          "hgvs_p": "p.Pro430Arg",
          "transcript": "ENST00000505909.5",
          "protein_id": "ENSP00000425401.1",
          "transcript_support_level": 5,
          "aa_start": 430,
          "aa_end": null,
          "aa_length": 1005,
          "cds_start": 1289,
          "cds_end": null,
          "cds_length": 3018,
          "cdna_start": 1289,
          "cdna_end": null,
          "cdna_length": 3018,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000505909.5"
        },
        {
          "aa_ref": "P",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CORIN",
          "gene_hgnc_id": 19012,
          "hgvs_c": "c.1286C>G",
          "hgvs_p": "p.Pro429Arg",
          "transcript": "ENST00000891632.1",
          "protein_id": "ENSP00000561691.1",
          "transcript_support_level": null,
          "aa_start": 429,
          "aa_end": null,
          "aa_length": 1004,
          "cds_start": 1286,
          "cds_end": null,
          "cds_length": 3015,
          "cdna_start": 1443,
          "cdna_end": null,
          "cdna_length": 4892,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000891632.1"
        },
        {
          "aa_ref": "P",
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          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CORIN",
          "gene_hgnc_id": 19012,
          "hgvs_c": "c.1400C>G",
          "hgvs_p": "p.Pro467Arg",
          "transcript": "ENST00000961993.1",
          "protein_id": "ENSP00000632052.1",
          "transcript_support_level": null,
          "aa_start": 467,
          "aa_end": null,
          "aa_length": 1003,
          "cds_start": 1400,
          "cds_end": null,
          "cds_length": 3012,
          "cdna_start": 1518,
          "cdna_end": null,
          "cdna_length": 4847,
          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "P",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
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          "gene_symbol": "CORIN",
          "gene_hgnc_id": 19012,
          "hgvs_c": "c.1319C>G",
          "hgvs_p": "p.Pro440Arg",
          "transcript": "ENST00000961994.1",
          "protein_id": "ENSP00000632053.1",
          "transcript_support_level": null,
          "aa_start": 440,
          "aa_end": null,
          "aa_length": 979,
          "cds_start": 1319,
          "cds_end": null,
          "cds_length": 2940,
          "cdna_start": 1496,
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          "cdna_length": 3736,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000961994.1"
        },
        {
          "aa_ref": "P",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
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          "gene_symbol": "CORIN",
          "gene_hgnc_id": 19012,
          "hgvs_c": "c.1199C>G",
          "hgvs_p": "p.Pro400Arg",
          "transcript": "ENST00000502252.5",
          "protein_id": "ENSP00000424212.1",
          "transcript_support_level": 2,
          "aa_start": 400,
          "aa_end": null,
          "aa_length": 975,
          "cds_start": 1199,
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          "cdna_start": 1322,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000502252.5"
        },
        {
          "aa_ref": "P",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
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          "exon_count": 20,
          "intron_rank": null,
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          "gene_symbol": "CORIN",
          "gene_hgnc_id": 19012,
          "hgvs_c": "c.1292C>G",
          "hgvs_p": "p.Pro431Arg",
          "transcript": "ENST00000961982.1",
          "protein_id": "ENSP00000632041.1",
          "transcript_support_level": null,
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        {
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          "gene_symbol": "CORIN",
          "gene_hgnc_id": 19012,
          "hgvs_c": "c.1181C>G",
          "hgvs_p": "p.Pro394Arg",
          "transcript": "ENST00000891635.1",
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          "aa_end": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000891635.1"
        },
        {
          "aa_ref": "P",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
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          "gene_symbol": "CORIN",
          "gene_hgnc_id": 19012,
          "hgvs_c": "c.1181C>G",
          "hgvs_p": "p.Pro394Arg",
          "transcript": "ENST00000961984.1",
          "protein_id": "ENSP00000632043.1",
          "transcript_support_level": null,
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        {
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          "intron_rank": null,
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          "gene_symbol": "CORIN",
          "gene_hgnc_id": 19012,
          "hgvs_c": "c.1289C>G",
          "hgvs_p": "p.Pro430Arg",
          "transcript": "ENST00000961988.1",
          "protein_id": "ENSP00000632047.1",
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        {
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          "gene_symbol": "CORIN",
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        {
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          "gene_symbol": "CORIN",
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          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "P",
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          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CORIN",
          "gene_hgnc_id": 19012,
          "hgvs_c": "c.1088C>G",
          "hgvs_p": "p.Pro363Arg",
          "transcript": "NM_001278585.2",
          "protein_id": "NP_001265514.1",
          "transcript_support_level": null,
          "aa_start": 363,
          "aa_end": null,
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          "cdna_start": 1206,
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      "clinvar_review_status": "no assertion criteria provided",
      "clinvar_submissions_summary": "null",
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      "custom_annotations": null
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  "message": null
}
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.