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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: 12-22470874-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=22470874&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "12",
      "pos": 22470874,
      "ref": "T",
      "alt": "C",
      "effect": "missense_variant",
      "transcript": "NM_001385322.1",
      "consequences": [
        {
          "aa_ref": "N",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C2CD5",
          "gene_hgnc_id": 29062,
          "hgvs_c": "c.2396A>G",
          "hgvs_p": "p.Asn799Ser",
          "transcript": "NM_001286176.2",
          "protein_id": "NP_001273105.1",
          "transcript_support_level": null,
          "aa_start": 799,
          "aa_end": null,
          "aa_length": 1051,
          "cds_start": 2396,
          "cds_end": null,
          "cds_length": 3156,
          "cdna_start": 2648,
          "cdna_end": null,
          "cdna_length": 4585,
          "mane_select": "ENST00000446597.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001286176.2"
        },
        {
          "aa_ref": "N",
          "aa_alt": "S",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C2CD5",
          "gene_hgnc_id": 29062,
          "hgvs_c": "c.2396A>G",
          "hgvs_p": "p.Asn799Ser",
          "transcript": "ENST00000446597.6",
          "protein_id": "ENSP00000388756.1",
          "transcript_support_level": 1,
          "aa_start": 799,
          "aa_end": null,
          "aa_length": 1051,
          "cds_start": 2396,
          "cds_end": null,
          "cds_length": 3156,
          "cdna_start": 2648,
          "cdna_end": null,
          "cdna_length": 4585,
          "mane_select": "NM_001286176.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000446597.6"
        },
        {
          "aa_ref": "N",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C2CD5",
          "gene_hgnc_id": 29062,
          "hgvs_c": "c.2402A>G",
          "hgvs_p": "p.Asn801Ser",
          "transcript": "ENST00000536386.5",
          "protein_id": "ENSP00000439392.1",
          "transcript_support_level": 1,
          "aa_start": 801,
          "aa_end": null,
          "aa_length": 1053,
          "cds_start": 2402,
          "cds_end": null,
          "cds_length": 3162,
          "cdna_start": 2521,
          "cdna_end": null,
          "cdna_length": 3496,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000536386.5"
        },
        {
          "aa_ref": "N",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C2CD5",
          "gene_hgnc_id": 29062,
          "hgvs_c": "c.2369A>G",
          "hgvs_p": "p.Asn790Ser",
          "transcript": "ENST00000396028.6",
          "protein_id": "ENSP00000379345.2",
          "transcript_support_level": 1,
          "aa_start": 790,
          "aa_end": null,
          "aa_length": 1042,
          "cds_start": 2369,
          "cds_end": null,
          "cds_length": 3129,
          "cdna_start": 2488,
          "cdna_end": null,
          "cdna_length": 3463,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000396028.6"
        },
        {
          "aa_ref": "N",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C2CD5",
          "gene_hgnc_id": 29062,
          "hgvs_c": "c.2396A>G",
          "hgvs_p": "p.Asn799Ser",
          "transcript": "ENST00000333957.8",
          "protein_id": "ENSP00000334229.4",
          "transcript_support_level": 1,
          "aa_start": 799,
          "aa_end": null,
          "aa_length": 1000,
          "cds_start": 2396,
          "cds_end": null,
          "cds_length": 3003,
          "cdna_start": 2652,
          "cdna_end": null,
          "cdna_length": 4436,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000333957.8"
        },
        {
          "aa_ref": "N",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C2CD5",
          "gene_hgnc_id": 29062,
          "hgvs_c": "c.2660A>G",
          "hgvs_p": "p.Asn887Ser",
          "transcript": "ENST00000960574.1",
          "protein_id": "ENSP00000630633.1",
          "transcript_support_level": null,
          "aa_start": 887,
          "aa_end": null,
          "aa_length": 1139,
          "cds_start": 2660,
          "cds_end": null,
          "cds_length": 3420,
          "cdna_start": 2702,
          "cdna_end": null,
          "cdna_length": 4630,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000960574.1"
        },
        {
          "aa_ref": "N",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C2CD5",
          "gene_hgnc_id": 29062,
          "hgvs_c": "c.2621A>G",
          "hgvs_p": "p.Asn874Ser",
          "transcript": "ENST00000906362.1",
          "protein_id": "ENSP00000576421.1",
          "transcript_support_level": null,
          "aa_start": 874,
          "aa_end": null,
          "aa_length": 1126,
          "cds_start": 2621,
          "cds_end": null,
          "cds_length": 3381,
          "cdna_start": 2664,
          "cdna_end": null,
          "cdna_length": 4601,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000906362.1"
        },
        {
          "aa_ref": "N",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C2CD5",
          "gene_hgnc_id": 29062,
          "hgvs_c": "c.2621A>G",
          "hgvs_p": "p.Asn874Ser",
          "transcript": "ENST00000960568.1",
          "protein_id": "ENSP00000630627.1",
          "transcript_support_level": null,
          "aa_start": 874,
          "aa_end": null,
          "aa_length": 1126,
          "cds_start": 2621,
          "cds_end": null,
          "cds_length": 3381,
          "cdna_start": 2833,
          "cdna_end": null,
          "cdna_length": 4774,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000960568.1"
        },
        {
          "aa_ref": "N",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C2CD5",
          "gene_hgnc_id": 29062,
          "hgvs_c": "c.2588A>G",
          "hgvs_p": "p.Asn863Ser",
          "transcript": "NM_001385322.1",
          "protein_id": "NP_001372251.1",
          "transcript_support_level": null,
          "aa_start": 863,
          "aa_end": null,
          "aa_length": 1115,
          "cds_start": 2588,
          "cds_end": null,
          "cds_length": 3348,
          "cdna_start": 2840,
          "cdna_end": null,
          "cdna_length": 4777,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001385322.1"
        },
        {
          "aa_ref": "N",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C2CD5",
          "gene_hgnc_id": 29062,
          "hgvs_c": "c.2588A>G",
          "hgvs_p": "p.Asn863Ser",
          "transcript": "ENST00000906354.1",
          "protein_id": "ENSP00000576413.1",
          "transcript_support_level": null,
          "aa_start": 863,
          "aa_end": null,
          "aa_length": 1115,
          "cds_start": 2588,
          "cds_end": null,
          "cds_length": 3348,
          "cdna_start": 2806,
          "cdna_end": null,
          "cdna_length": 4743,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000906354.1"
        },
        {
          "aa_ref": "N",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C2CD5",
          "gene_hgnc_id": 29062,
          "hgvs_c": "c.2588A>G",
          "hgvs_p": "p.Asn863Ser",
          "transcript": "ENST00000960569.1",
          "protein_id": "ENSP00000630628.1",
          "transcript_support_level": null,
          "aa_start": 863,
          "aa_end": null,
          "aa_length": 1115,
          "cds_start": 2588,
          "cds_end": null,
          "cds_length": 3348,
          "cdna_start": 2949,
          "cdna_end": null,
          "cdna_length": 4877,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000960569.1"
        },
        {
          "aa_ref": "N",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C2CD5",
          "gene_hgnc_id": 29062,
          "hgvs_c": "c.2588A>G",
          "hgvs_p": "p.Asn863Ser",
          "transcript": "ENST00000960565.1",
          "protein_id": "ENSP00000630624.1",
          "transcript_support_level": null,
          "aa_start": 863,
          "aa_end": null,
          "aa_length": 1105,
          "cds_start": 2588,
          "cds_end": null,
          "cds_length": 3318,
          "cdna_start": 2973,
          "cdna_end": null,
          "cdna_length": 4876,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000960565.1"
        },
        {
          "aa_ref": "N",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C2CD5",
          "gene_hgnc_id": 29062,
          "hgvs_c": "c.2588A>G",
          "hgvs_p": "p.Asn863Ser",
          "transcript": "ENST00000906359.1",
          "protein_id": "ENSP00000576418.1",
          "transcript_support_level": null,
          "aa_start": 863,
          "aa_end": null,
          "aa_length": 1098,
          "cds_start": 2588,
          "cds_end": null,
          "cds_length": 3297,
          "cdna_start": 2658,
          "cdna_end": null,
          "cdna_length": 4544,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000906359.1"
        },
        {
          "aa_ref": "N",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C2CD5",
          "gene_hgnc_id": 29062,
          "hgvs_c": "c.2435A>G",
          "hgvs_p": "p.Asn812Ser",
          "transcript": "NM_001385323.1",
          "protein_id": "NP_001372252.1",
          "transcript_support_level": null,
          "aa_start": 812,
          "aa_end": null,
          "aa_length": 1064,
          "cds_start": 2435,
          "cds_end": null,
          "cds_length": 3195,
          "cdna_start": 2687,
          "cdna_end": null,
          "cdna_length": 4624,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "NM_001385323.1"
        },
        {
          "aa_ref": "N",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C2CD5",
          "gene_hgnc_id": 29062,
          "hgvs_c": "c.2588A>G",
          "hgvs_p": "p.Asn863Ser",
          "transcript": "ENST00000906352.1",
          "protein_id": "ENSP00000576411.1",
          "transcript_support_level": null,
          "aa_start": 863,
          "aa_end": null,
          "aa_length": 1064,
          "cds_start": 2588,
          "cds_end": null,
          "cds_length": 3195,
          "cdna_start": 2816,
          "cdna_end": null,
          "cdna_length": 4600,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000906352.1"
        },
        {
          "aa_ref": "N",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C2CD5",
          "gene_hgnc_id": 29062,
          "hgvs_c": "c.2435A>G",
          "hgvs_p": "p.Asn812Ser",
          "transcript": "ENST00000906358.1",
          "protein_id": "ENSP00000576417.1",
          "transcript_support_level": null,
          "aa_start": 812,
          "aa_end": null,
          "aa_length": 1064,
          "cds_start": 2435,
          "cds_end": null,
          "cds_length": 3195,
          "cdna_start": 2601,
          "cdna_end": null,
          "cdna_length": 4538,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000906358.1"
        },
        {
          "aa_ref": "N",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C2CD5",
          "gene_hgnc_id": 29062,
          "hgvs_c": "c.2588A>G",
          "hgvs_p": "p.Asn863Ser",
          "transcript": "ENST00000960566.1",
          "protein_id": "ENSP00000630625.1",
          "transcript_support_level": null,
          "aa_start": 863,
          "aa_end": null,
          "aa_length": 1064,
          "cds_start": 2588,
          "cds_end": null,
          "cds_length": 3195,
          "cdna_start": 2963,
          "cdna_end": null,
          "cdna_length": 4738,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000960566.1"
        },
        {
          "aa_ref": "N",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C2CD5",
          "gene_hgnc_id": 29062,
          "hgvs_c": "c.2435A>G",
          "hgvs_p": "p.Asn812Ser",
          "transcript": "ENST00000960573.1",
          "protein_id": "ENSP00000630632.1",
          "transcript_support_level": null,
          "aa_start": 812,
          "aa_end": null,
          "aa_length": 1064,
          "cds_start": 2435,
          "cds_end": null,
          "cds_length": 3195,
          "cdna_start": 2490,
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          "cdna_length": 4418,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000960573.1"
        },
        {
          "aa_ref": "N",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C2CD5",
          "gene_hgnc_id": 29062,
          "hgvs_c": "c.2435A>G",
          "hgvs_p": "p.Asn812Ser",
          "transcript": "NM_001286175.2",
          "protein_id": "NP_001273104.1",
          "transcript_support_level": null,
          "aa_start": 812,
          "aa_end": null,
          "aa_length": 1054,
          "cds_start": 2435,
          "cds_end": null,
          "cds_length": 3165,
          "cdna_start": 2687,
          "cdna_end": null,
          "cdna_length": 4594,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001286175.2"
        },
        {
          "aa_ref": "N",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C2CD5",
          "gene_hgnc_id": 29062,
          "hgvs_c": "c.2435A>G",
          "hgvs_p": "p.Asn812Ser",
          "transcript": "ENST00000545552.5",
          "protein_id": "ENSP00000443204.1",
          "transcript_support_level": 2,
          "aa_start": 812,
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            "PM2",
            "BP4_Moderate"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "NM_001385322.1",
          "gene_symbol": "C2CD5",
          "hgnc_id": 29062,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.2588A>G",
          "hgvs_p": "p.Asn863Ser"
        },
        {
          "score": 0,
          "benign_score": 2,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Moderate"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "ENST00000661495.2",
          "gene_symbol": "C2CD5-AS1",
          "hgnc_id": 55961,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.171+61467T>C",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}
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