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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: 1-31658490-G-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=31658490&ref=G&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "1",
      "pos": 31658490,
      "ref": "G",
      "alt": "T",
      "effect": "missense_variant,splice_region_variant",
      "transcript": "NM_001856.4",
      "consequences": [
        {
          "aa_ref": "P",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 64,
          "exon_rank_end": null,
          "exon_count": 71,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "COL16A1",
          "gene_hgnc_id": 2193,
          "hgvs_c": "c.4018C>A",
          "hgvs_p": "p.Pro1340Thr",
          "transcript": "NM_001856.4",
          "protein_id": "NP_001847.3",
          "transcript_support_level": null,
          "aa_start": 1340,
          "aa_end": null,
          "aa_length": 1604,
          "cds_start": 4018,
          "cds_end": null,
          "cds_length": 4815,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000373672.8",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001856.4"
        },
        {
          "aa_ref": "P",
          "aa_alt": "T",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 64,
          "exon_rank_end": null,
          "exon_count": 71,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "COL16A1",
          "gene_hgnc_id": 2193,
          "hgvs_c": "c.4018C>A",
          "hgvs_p": "p.Pro1340Thr",
          "transcript": "ENST00000373672.8",
          "protein_id": "ENSP00000362776.3",
          "transcript_support_level": 5,
          "aa_start": 1340,
          "aa_end": null,
          "aa_length": 1604,
          "cds_start": 4018,
          "cds_end": null,
          "cds_length": 4815,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001856.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000373672.8"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "COL16A1",
          "gene_hgnc_id": 2193,
          "hgvs_c": "n.1261C>A",
          "hgvs_p": null,
          "transcript": "ENST00000488897.5",
          "protein_id": null,
          "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": "retained_intron",
          "feature": "ENST00000488897.5"
        },
        {
          "aa_ref": "P",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 63,
          "exon_rank_end": null,
          "exon_count": 70,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "COL16A1",
          "gene_hgnc_id": 2193,
          "hgvs_c": "c.3973C>A",
          "hgvs_p": "p.Pro1325Thr",
          "transcript": "ENST00000873809.1",
          "protein_id": "ENSP00000543868.1",
          "transcript_support_level": null,
          "aa_start": 1325,
          "aa_end": null,
          "aa_length": 1589,
          "cds_start": 3973,
          "cds_end": null,
          "cds_length": 4770,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000873809.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 61,
          "exon_rank_end": null,
          "exon_count": 68,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "COL16A1",
          "gene_hgnc_id": 2193,
          "hgvs_c": "c.3838C>A",
          "hgvs_p": "p.Pro1280Thr",
          "transcript": "ENST00000933935.1",
          "protein_id": "ENSP00000603994.1",
          "transcript_support_level": null,
          "aa_start": 1280,
          "aa_end": null,
          "aa_length": 1544,
          "cds_start": 3838,
          "cds_end": null,
          "cds_length": 4635,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000933935.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 58,
          "exon_rank_end": null,
          "exon_count": 65,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "COL16A1",
          "gene_hgnc_id": 2193,
          "hgvs_c": "c.3694C>A",
          "hgvs_p": "p.Pro1232Thr",
          "transcript": "ENST00000873810.1",
          "protein_id": "ENSP00000543869.1",
          "transcript_support_level": null,
          "aa_start": 1232,
          "aa_end": null,
          "aa_length": 1496,
          "cds_start": 3694,
          "cds_end": null,
          "cds_length": 4491,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000873810.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "COL16A1",
          "gene_hgnc_id": 2193,
          "hgvs_c": "c.589C>A",
          "hgvs_p": "p.Pro197Thr",
          "transcript": "ENST00000440437.1",
          "protein_id": "ENSP00000390281.1",
          "transcript_support_level": 5,
          "aa_start": 197,
          "aa_end": null,
          "aa_length": 223,
          "cds_start": 589,
          "cds_end": null,
          "cds_length": 672,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000440437.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 63,
          "exon_rank_end": null,
          "exon_count": 70,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "COL16A1",
          "gene_hgnc_id": 2193,
          "hgvs_c": "c.3985C>A",
          "hgvs_p": "p.Pro1329Thr",
          "transcript": "XM_017000338.2",
          "protein_id": "XP_016855827.1",
          "transcript_support_level": null,
          "aa_start": 1329,
          "aa_end": null,
          "aa_length": 1593,
          "cds_start": 3985,
          "cds_end": null,
          "cds_length": 4782,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_017000338.2"
        },
        {
          "aa_ref": "P",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 63,
          "exon_rank_end": null,
          "exon_count": 70,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "COL16A1",
          "gene_hgnc_id": 2193,
          "hgvs_c": "c.3982C>A",
          "hgvs_p": "p.Pro1328Thr",
          "transcript": "XM_017000339.2",
          "protein_id": "XP_016855828.1",
          "transcript_support_level": null,
          "aa_start": 1328,
          "aa_end": null,
          "aa_length": 1592,
          "cds_start": 3982,
          "cds_end": null,
          "cds_length": 4779,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_017000339.2"
        },
        {
          "aa_ref": "P",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 63,
          "exon_rank_end": null,
          "exon_count": 70,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "COL16A1",
          "gene_hgnc_id": 2193,
          "hgvs_c": "c.3973C>A",
          "hgvs_p": "p.Pro1325Thr",
          "transcript": "XM_011540722.2",
          "protein_id": "XP_011539024.1",
          "transcript_support_level": null,
          "aa_start": 1325,
          "aa_end": null,
          "aa_length": 1589,
          "cds_start": 3973,
          "cds_end": null,
          "cds_length": 4770,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_011540722.2"
        },
        {
          "aa_ref": "P",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 63,
          "exon_rank_end": null,
          "exon_count": 70,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "COL16A1",
          "gene_hgnc_id": 2193,
          "hgvs_c": "c.3970C>A",
          "hgvs_p": "p.Pro1324Thr",
          "transcript": "XM_005270481.2",
          "protein_id": "XP_005270538.1",
          "transcript_support_level": null,
          "aa_start": 1324,
          "aa_end": null,
          "aa_length": 1588,
          "cds_start": 3970,
          "cds_end": null,
          "cds_length": 4767,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_005270481.2"
        },
        {
          "aa_ref": "P",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 62,
          "exon_rank_end": null,
          "exon_count": 69,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "COL16A1",
          "gene_hgnc_id": 2193,
          "hgvs_c": "c.3925C>A",
          "hgvs_p": "p.Pro1309Thr",
          "transcript": "XM_011540723.2",
          "protein_id": "XP_011539025.1",
          "transcript_support_level": null,
          "aa_start": 1309,
          "aa_end": null,
          "aa_length": 1573,
          "cds_start": 3925,
          "cds_end": null,
          "cds_length": 4722,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_011540723.2"
        },
        {
          "aa_ref": "P",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 63,
          "exon_rank_end": null,
          "exon_count": 70,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "COL16A1",
          "gene_hgnc_id": 2193,
          "hgvs_c": "c.3895C>A",
          "hgvs_p": "p.Pro1299Thr",
          "transcript": "XM_011540724.2",
          "protein_id": "XP_011539026.1",
          "transcript_support_level": null,
          "aa_start": 1299,
          "aa_end": null,
          "aa_length": 1563,
          "cds_start": 3895,
          "cds_end": null,
          "cds_length": 4692,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_011540724.2"
        },
        {
          "aa_ref": "P",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 61,
          "exon_rank_end": null,
          "exon_count": 68,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "COL16A1",
          "gene_hgnc_id": 2193,
          "hgvs_c": "c.3889C>A",
          "hgvs_p": "p.Pro1297Thr",
          "transcript": "XM_047446431.1",
          "protein_id": "XP_047302387.1",
          "transcript_support_level": null,
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          "aa_end": null,
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          "cds_start": 3889,
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          "cdna_start": null,
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          "biotype": "protein_coding",
          "feature": "XM_047446431.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 62,
          "exon_rank_end": null,
          "exon_count": 69,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "COL16A1",
          "gene_hgnc_id": 2193,
          "hgvs_c": "c.3850C>A",
          "hgvs_p": "p.Pro1284Thr",
          "transcript": "XM_047446432.1",
          "protein_id": "XP_047302388.1",
          "transcript_support_level": null,
          "aa_start": 1284,
          "aa_end": null,
          "aa_length": 1548,
          "cds_start": 3850,
          "cds_end": null,
          "cds_length": 4647,
          "cdna_start": null,
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          "cdna_length": null,
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          "biotype": "protein_coding",
          "feature": "XM_047446432.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 60,
          "exon_rank_end": null,
          "exon_count": 67,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "COL16A1",
          "gene_hgnc_id": 2193,
          "hgvs_c": "c.3766C>A",
          "hgvs_p": "p.Pro1256Thr",
          "transcript": "XM_047446435.1",
          "protein_id": "XP_047302391.1",
          "transcript_support_level": null,
          "aa_start": 1256,
          "aa_end": null,
          "aa_length": 1520,
          "cds_start": 3766,
          "cds_end": null,
          "cds_length": 4563,
          "cdna_start": null,
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          "biotype": "protein_coding",
          "feature": "XM_047446435.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "T",
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          "protein_coding": true,
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          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 60,
          "exon_rank_end": null,
          "exon_count": 67,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "COL16A1",
          "gene_hgnc_id": 2193,
          "hgvs_c": "c.3457C>A",
          "hgvs_p": "p.Pro1153Thr",
          "transcript": "XM_047446439.1",
          "protein_id": "XP_047302395.1",
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          "aa_start": 1153,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "P",
          "aa_alt": "T",
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          "consequences": [
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            "splice_region_variant"
          ],
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          "exon_rank_end": null,
          "exon_count": 61,
          "intron_rank": null,
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          "gene_symbol": "COL16A1",
          "gene_hgnc_id": 2193,
          "hgvs_c": "c.3112C>A",
          "hgvs_p": "p.Pro1038Thr",
          "transcript": "XM_011540727.3",
          "protein_id": "XP_011539029.1",
          "transcript_support_level": null,
          "aa_start": 1038,
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          "biotype": "protein_coding",
          "feature": "XM_011540727.3"
        },
        {
          "aa_ref": "P",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 42,
          "exon_rank_end": null,
          "exon_count": 49,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "COL16A1",
          "gene_hgnc_id": 2193,
          "hgvs_c": "c.2473C>A",
          "hgvs_p": "p.Pro825Thr",
          "transcript": "XM_011540728.3",
          "protein_id": "XP_011539030.1",
          "transcript_support_level": null,
          "aa_start": 825,
          "aa_end": null,
          "aa_length": 1089,
          "cds_start": 2473,
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          "cds_length": 3270,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "XM_011540728.3"
        },
        {
          "aa_ref": "P",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
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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.