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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: 12-22469744-T-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=22469744&ref=T&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "12",
      "pos": 22469744,
      "ref": "T",
      "alt": "A",
      "effect": "missense_variant",
      "transcript": "NM_001385322.1",
      "consequences": [
        {
          "aa_ref": "D",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C2CD5",
          "gene_hgnc_id": 29062,
          "hgvs_c": "c.2498A>T",
          "hgvs_p": "p.Asp833Val",
          "transcript": "NM_001286176.2",
          "protein_id": "NP_001273105.1",
          "transcript_support_level": null,
          "aa_start": 833,
          "aa_end": null,
          "aa_length": 1051,
          "cds_start": 2498,
          "cds_end": null,
          "cds_length": 3156,
          "cdna_start": 2750,
          "cdna_end": null,
          "cdna_length": 4585,
          "mane_select": "ENST00000446597.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001286176.2"
        },
        {
          "aa_ref": "D",
          "aa_alt": "V",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C2CD5",
          "gene_hgnc_id": 29062,
          "hgvs_c": "c.2498A>T",
          "hgvs_p": "p.Asp833Val",
          "transcript": "ENST00000446597.6",
          "protein_id": "ENSP00000388756.1",
          "transcript_support_level": 1,
          "aa_start": 833,
          "aa_end": null,
          "aa_length": 1051,
          "cds_start": 2498,
          "cds_end": null,
          "cds_length": 3156,
          "cdna_start": 2750,
          "cdna_end": null,
          "cdna_length": 4585,
          "mane_select": "NM_001286176.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000446597.6"
        },
        {
          "aa_ref": "D",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C2CD5",
          "gene_hgnc_id": 29062,
          "hgvs_c": "c.2504A>T",
          "hgvs_p": "p.Asp835Val",
          "transcript": "ENST00000536386.5",
          "protein_id": "ENSP00000439392.1",
          "transcript_support_level": 1,
          "aa_start": 835,
          "aa_end": null,
          "aa_length": 1053,
          "cds_start": 2504,
          "cds_end": null,
          "cds_length": 3162,
          "cdna_start": 2623,
          "cdna_end": null,
          "cdna_length": 3496,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000536386.5"
        },
        {
          "aa_ref": "D",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C2CD5",
          "gene_hgnc_id": 29062,
          "hgvs_c": "c.2471A>T",
          "hgvs_p": "p.Asp824Val",
          "transcript": "ENST00000396028.6",
          "protein_id": "ENSP00000379345.2",
          "transcript_support_level": 1,
          "aa_start": 824,
          "aa_end": null,
          "aa_length": 1042,
          "cds_start": 2471,
          "cds_end": null,
          "cds_length": 3129,
          "cdna_start": 2590,
          "cdna_end": null,
          "cdna_length": 3463,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000396028.6"
        },
        {
          "aa_ref": "D",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C2CD5",
          "gene_hgnc_id": 29062,
          "hgvs_c": "c.2498A>T",
          "hgvs_p": "p.Asp833Val",
          "transcript": "ENST00000333957.8",
          "protein_id": "ENSP00000334229.4",
          "transcript_support_level": 1,
          "aa_start": 833,
          "aa_end": null,
          "aa_length": 1000,
          "cds_start": 2498,
          "cds_end": null,
          "cds_length": 3003,
          "cdna_start": 2754,
          "cdna_end": null,
          "cdna_length": 4436,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000333957.8"
        },
        {
          "aa_ref": "D",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 24,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C2CD5",
          "gene_hgnc_id": 29062,
          "hgvs_c": "c.2762A>T",
          "hgvs_p": "p.Asp921Val",
          "transcript": "ENST00000960574.1",
          "protein_id": "ENSP00000630633.1",
          "transcript_support_level": null,
          "aa_start": 921,
          "aa_end": null,
          "aa_length": 1139,
          "cds_start": 2762,
          "cds_end": null,
          "cds_length": 3420,
          "cdna_start": 2804,
          "cdna_end": null,
          "cdna_length": 4630,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000960574.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C2CD5",
          "gene_hgnc_id": 29062,
          "hgvs_c": "c.2723A>T",
          "hgvs_p": "p.Asp908Val",
          "transcript": "ENST00000906362.1",
          "protein_id": "ENSP00000576421.1",
          "transcript_support_level": null,
          "aa_start": 908,
          "aa_end": null,
          "aa_length": 1126,
          "cds_start": 2723,
          "cds_end": null,
          "cds_length": 3381,
          "cdna_start": 2766,
          "cdna_end": null,
          "cdna_length": 4601,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000906362.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 24,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C2CD5",
          "gene_hgnc_id": 29062,
          "hgvs_c": "c.2723A>T",
          "hgvs_p": "p.Asp908Val",
          "transcript": "ENST00000960568.1",
          "protein_id": "ENSP00000630627.1",
          "transcript_support_level": null,
          "aa_start": 908,
          "aa_end": null,
          "aa_length": 1126,
          "cds_start": 2723,
          "cds_end": null,
          "cds_length": 3381,
          "cdna_start": 2935,
          "cdna_end": null,
          "cdna_length": 4774,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000960568.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C2CD5",
          "gene_hgnc_id": 29062,
          "hgvs_c": "c.2690A>T",
          "hgvs_p": "p.Asp897Val",
          "transcript": "NM_001385322.1",
          "protein_id": "NP_001372251.1",
          "transcript_support_level": null,
          "aa_start": 897,
          "aa_end": null,
          "aa_length": 1115,
          "cds_start": 2690,
          "cds_end": null,
          "cds_length": 3348,
          "cdna_start": 2942,
          "cdna_end": null,
          "cdna_length": 4777,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001385322.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C2CD5",
          "gene_hgnc_id": 29062,
          "hgvs_c": "c.2690A>T",
          "hgvs_p": "p.Asp897Val",
          "transcript": "ENST00000906354.1",
          "protein_id": "ENSP00000576413.1",
          "transcript_support_level": null,
          "aa_start": 897,
          "aa_end": null,
          "aa_length": 1115,
          "cds_start": 2690,
          "cds_end": null,
          "cds_length": 3348,
          "cdna_start": 2908,
          "cdna_end": null,
          "cdna_length": 4743,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "D",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C2CD5",
          "gene_hgnc_id": 29062,
          "hgvs_c": "c.2690A>T",
          "hgvs_p": "p.Asp897Val",
          "transcript": "ENST00000960569.1",
          "protein_id": "ENSP00000630628.1",
          "transcript_support_level": null,
          "aa_start": 897,
          "aa_end": null,
          "aa_length": 1115,
          "cds_start": 2690,
          "cds_end": null,
          "cds_length": 3348,
          "cdna_start": 3051,
          "cdna_end": null,
          "cdna_length": 4877,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "D",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C2CD5",
          "gene_hgnc_id": 29062,
          "hgvs_c": "c.2690A>T",
          "hgvs_p": "p.Asp897Val",
          "transcript": "ENST00000960565.1",
          "protein_id": "ENSP00000630624.1",
          "transcript_support_level": null,
          "aa_start": 897,
          "aa_end": null,
          "aa_length": 1105,
          "cds_start": 2690,
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          "cds_length": 3318,
          "cdna_start": 3075,
          "cdna_end": null,
          "cdna_length": 4876,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000960565.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "V",
          "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.2690A>T",
          "hgvs_p": "p.Asp897Val",
          "transcript": "ENST00000906359.1",
          "protein_id": "ENSP00000576418.1",
          "transcript_support_level": null,
          "aa_start": 897,
          "aa_end": null,
          "aa_length": 1098,
          "cds_start": 2690,
          "cds_end": null,
          "cds_length": 3297,
          "cdna_start": 2760,
          "cdna_end": null,
          "cdna_length": 4544,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000906359.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C2CD5",
          "gene_hgnc_id": 29062,
          "hgvs_c": "c.2537A>T",
          "hgvs_p": "p.Asp846Val",
          "transcript": "NM_001385323.1",
          "protein_id": "NP_001372252.1",
          "transcript_support_level": null,
          "aa_start": 846,
          "aa_end": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
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        {
          "aa_ref": "D",
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          "canonical": false,
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          "consequences": [
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          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C2CD5",
          "gene_hgnc_id": 29062,
          "hgvs_c": "c.2690A>T",
          "hgvs_p": "p.Asp897Val",
          "transcript": "ENST00000906352.1",
          "protein_id": "ENSP00000576411.1",
          "transcript_support_level": null,
          "aa_start": 897,
          "aa_end": null,
          "aa_length": 1064,
          "cds_start": 2690,
          "cds_end": null,
          "cds_length": 3195,
          "cdna_start": 2918,
          "cdna_end": null,
          "cdna_length": 4600,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000906352.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C2CD5",
          "gene_hgnc_id": 29062,
          "hgvs_c": "c.2537A>T",
          "hgvs_p": "p.Asp846Val",
          "transcript": "ENST00000906358.1",
          "protein_id": "ENSP00000576417.1",
          "transcript_support_level": null,
          "aa_start": 846,
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          "cds_start": 2537,
          "cds_end": null,
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          "cdna_length": 4538,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000906358.1"
        },
        {
          "aa_ref": "D",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C2CD5",
          "gene_hgnc_id": 29062,
          "hgvs_c": "c.2690A>T",
          "hgvs_p": "p.Asp897Val",
          "transcript": "ENST00000960566.1",
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          "transcript_support_level": null,
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        {
          "aa_ref": "D",
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          "exon_rank_end": null,
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          "intron_rank": null,
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          "gene_symbol": "C2CD5",
          "gene_hgnc_id": 29062,
          "hgvs_c": "c.2537A>T",
          "hgvs_p": "p.Asp846Val",
          "transcript": "ENST00000960573.1",
          "protein_id": "ENSP00000630632.1",
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "D",
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          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
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          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C2CD5",
          "gene_hgnc_id": 29062,
          "hgvs_c": "c.2537A>T",
          "hgvs_p": "p.Asp846Val",
          "transcript": "NM_001286175.2",
          "protein_id": "NP_001273104.1",
          "transcript_support_level": null,
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          "cds_start": 2537,
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          "cds_length": 3165,
          "cdna_start": 2789,
          "cdna_end": null,
          "cdna_length": 4594,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001286175.2"
        },
        {
          "aa_ref": "D",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C2CD5",
          "gene_hgnc_id": 29062,
          "hgvs_c": "c.2537A>T",
          "hgvs_p": "p.Asp846Val",
          "transcript": "ENST00000545552.5",
          "protein_id": "ENSP00000443204.1",
          "transcript_support_level": 2,
          "aa_start": 846,
          "aa_end": null,
          "aa_length": 1054,
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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.