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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: 20-36653614-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=36653614&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "20",
      "pos": 36653614,
      "ref": "C",
      "alt": "T",
      "effect": "missense_variant",
      "transcript": "NM_032013.4",
      "consequences": [
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NDRG3",
          "gene_hgnc_id": 14462,
          "hgvs_c": "c.1034G>A",
          "hgvs_p": "p.Arg345Gln",
          "transcript": "NM_032013.4",
          "protein_id": "NP_114402.1",
          "transcript_support_level": null,
          "aa_start": 345,
          "aa_end": null,
          "aa_length": 375,
          "cds_start": 1034,
          "cds_end": null,
          "cds_length": 1128,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000349004.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_032013.4"
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NDRG3",
          "gene_hgnc_id": 14462,
          "hgvs_c": "c.1034G>A",
          "hgvs_p": "p.Arg345Gln",
          "transcript": "ENST00000349004.6",
          "protein_id": "ENSP00000345292.1",
          "transcript_support_level": 1,
          "aa_start": 345,
          "aa_end": null,
          "aa_length": 375,
          "cds_start": 1034,
          "cds_end": null,
          "cds_length": 1128,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_032013.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000349004.6"
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NDRG3",
          "gene_hgnc_id": 14462,
          "hgvs_c": "c.998G>A",
          "hgvs_p": "p.Arg333Gln",
          "transcript": "ENST00000359675.6",
          "protein_id": "ENSP00000352703.2",
          "transcript_support_level": 1,
          "aa_start": 333,
          "aa_end": null,
          "aa_length": 363,
          "cds_start": 998,
          "cds_end": null,
          "cds_length": 1092,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000359675.6"
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NDRG3",
          "gene_hgnc_id": 14462,
          "hgvs_c": "c.749G>A",
          "hgvs_p": "p.Arg250Gln",
          "transcript": "ENST00000373773.7",
          "protein_id": "ENSP00000362878.3",
          "transcript_support_level": 1,
          "aa_start": 250,
          "aa_end": null,
          "aa_length": 280,
          "cds_start": 749,
          "cds_end": null,
          "cds_length": 843,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000373773.7"
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NDRG3",
          "gene_hgnc_id": 14462,
          "hgvs_c": "c.1166G>A",
          "hgvs_p": "p.Arg389Gln",
          "transcript": "ENST00000930948.1",
          "protein_id": "ENSP00000601007.1",
          "transcript_support_level": null,
          "aa_start": 389,
          "aa_end": null,
          "aa_length": 419,
          "cds_start": 1166,
          "cds_end": null,
          "cds_length": 1260,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000930948.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NDRG3",
          "gene_hgnc_id": 14462,
          "hgvs_c": "c.1160G>A",
          "hgvs_p": "p.Arg387Gln",
          "transcript": "ENST00000956895.1",
          "protein_id": "ENSP00000626954.1",
          "transcript_support_level": null,
          "aa_start": 387,
          "aa_end": null,
          "aa_length": 417,
          "cds_start": 1160,
          "cds_end": null,
          "cds_length": 1254,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000956895.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NDRG3",
          "gene_hgnc_id": 14462,
          "hgvs_c": "c.1073G>A",
          "hgvs_p": "p.Arg358Gln",
          "transcript": "ENST00000373803.6",
          "protein_id": "ENSP00000362909.2",
          "transcript_support_level": 5,
          "aa_start": 358,
          "aa_end": null,
          "aa_length": 388,
          "cds_start": 1073,
          "cds_end": null,
          "cds_length": 1167,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000373803.6"
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NDRG3",
          "gene_hgnc_id": 14462,
          "hgvs_c": "c.1073G>A",
          "hgvs_p": "p.Arg358Gln",
          "transcript": "ENST00000956896.1",
          "protein_id": "ENSP00000626955.1",
          "transcript_support_level": null,
          "aa_start": 358,
          "aa_end": null,
          "aa_length": 388,
          "cds_start": 1073,
          "cds_end": null,
          "cds_length": 1167,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000956896.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NDRG3",
          "gene_hgnc_id": 14462,
          "hgvs_c": "c.1037G>A",
          "hgvs_p": "p.Arg346Gln",
          "transcript": "ENST00000956892.1",
          "protein_id": "ENSP00000626951.1",
          "transcript_support_level": null,
          "aa_start": 346,
          "aa_end": null,
          "aa_length": 376,
          "cds_start": 1037,
          "cds_end": null,
          "cds_length": 1131,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000956892.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NDRG3",
          "gene_hgnc_id": 14462,
          "hgvs_c": "c.1034G>A",
          "hgvs_p": "p.Arg345Gln",
          "transcript": "ENST00000855486.1",
          "protein_id": "ENSP00000525545.1",
          "transcript_support_level": null,
          "aa_start": 345,
          "aa_end": null,
          "aa_length": 375,
          "cds_start": 1034,
          "cds_end": null,
          "cds_length": 1128,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000855486.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NDRG3",
          "gene_hgnc_id": 14462,
          "hgvs_c": "c.1034G>A",
          "hgvs_p": "p.Arg345Gln",
          "transcript": "ENST00000855487.1",
          "protein_id": "ENSP00000525546.1",
          "transcript_support_level": null,
          "aa_start": 345,
          "aa_end": null,
          "aa_length": 375,
          "cds_start": 1034,
          "cds_end": null,
          "cds_length": 1128,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000855487.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NDRG3",
          "gene_hgnc_id": 14462,
          "hgvs_c": "c.1034G>A",
          "hgvs_p": "p.Arg345Gln",
          "transcript": "ENST00000855488.1",
          "protein_id": "ENSP00000525547.1",
          "transcript_support_level": null,
          "aa_start": 345,
          "aa_end": null,
          "aa_length": 375,
          "cds_start": 1034,
          "cds_end": null,
          "cds_length": 1128,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000855488.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NDRG3",
          "gene_hgnc_id": 14462,
          "hgvs_c": "c.1034G>A",
          "hgvs_p": "p.Arg345Gln",
          "transcript": "ENST00000930946.1",
          "protein_id": "ENSP00000601005.1",
          "transcript_support_level": null,
          "aa_start": 345,
          "aa_end": null,
          "aa_length": 375,
          "cds_start": 1034,
          "cds_end": null,
          "cds_length": 1128,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000930946.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NDRG3",
          "gene_hgnc_id": 14462,
          "hgvs_c": "c.1034G>A",
          "hgvs_p": "p.Arg345Gln",
          "transcript": "ENST00000956894.1",
          "protein_id": "ENSP00000626953.1",
          "transcript_support_level": null,
          "aa_start": 345,
          "aa_end": null,
          "aa_length": 375,
          "cds_start": 1034,
          "cds_end": null,
          "cds_length": 1128,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000956894.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NDRG3",
          "gene_hgnc_id": 14462,
          "hgvs_c": "c.1034G>A",
          "hgvs_p": "p.Arg345Gln",
          "transcript": "ENST00000956898.1",
          "protein_id": "ENSP00000626957.1",
          "transcript_support_level": null,
          "aa_start": 345,
          "aa_end": null,
          "aa_length": 375,
          "cds_start": 1034,
          "cds_end": null,
          "cds_length": 1128,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000956898.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NDRG3",
          "gene_hgnc_id": 14462,
          "hgvs_c": "c.1031G>A",
          "hgvs_p": "p.Arg344Gln",
          "transcript": "ENST00000956893.1",
          "protein_id": "ENSP00000626952.1",
          "transcript_support_level": null,
          "aa_start": 344,
          "aa_end": null,
          "aa_length": 374,
          "cds_start": 1031,
          "cds_end": null,
          "cds_length": 1125,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000956893.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NDRG3",
          "gene_hgnc_id": 14462,
          "hgvs_c": "c.1025G>A",
          "hgvs_p": "p.Arg342Gln",
          "transcript": "ENST00000956897.1",
          "protein_id": "ENSP00000626956.1",
          "transcript_support_level": null,
          "aa_start": 342,
          "aa_end": null,
          "aa_length": 372,
          "cds_start": 1025,
          "cds_end": null,
          "cds_length": 1119,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000956897.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NDRG3",
          "gene_hgnc_id": 14462,
          "hgvs_c": "c.998G>A",
          "hgvs_p": "p.Arg333Gln",
          "transcript": "NM_022477.4",
          "protein_id": "NP_071922.2",
          "transcript_support_level": null,
          "aa_start": 333,
          "aa_end": null,
          "aa_length": 363,
          "cds_start": 998,
          "cds_end": null,
          "cds_length": 1092,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "NM_022477.4"
        },
        {
          "aa_ref": "R",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NDRG3",
          "gene_hgnc_id": 14462,
          "hgvs_c": "c.986G>A",
          "hgvs_p": "p.Arg329Gln",
          "transcript": "ENST00000855485.1",
          "protein_id": "ENSP00000525544.1",
          "transcript_support_level": null,
          "aa_start": 329,
          "aa_end": null,
          "aa_length": 359,
          "cds_start": 986,
          "cds_end": null,
          "cds_length": 1080,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000855485.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "Q",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NDRG3",
          "gene_hgnc_id": 14462,
          "hgvs_c": "c.986G>A",
          "hgvs_p": "p.Arg329Gln",
          "transcript": "ENST00000930947.1",
          "protein_id": "ENSP00000601006.1",
          "transcript_support_level": null,
          "aa_start": 329,
          "aa_end": null,
          "aa_length": 359,
          "cds_start": 986,
          "cds_end": null,
          "cds_length": 1080,
          "cdna_start": null,
          "cdna_end": null,
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      "splice_prediction_selected": "Benign",
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      "revel_prediction": "Benign",
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      "bayesdelnoaf_score": -0.26,
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      "phylop100way_prediction": "Uncertain_significance",
      "spliceai_max_score": 0,
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      "acmg_score": -2,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "BP4_Moderate",
      "acmg_by_gene": [
        {
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          "verdict": "Likely_benign",
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          "effects": [
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          "inheritance_mode": "",
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      "clinvar_disease": "not specified",
      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "US:1",
      "phenotype_combined": "not specified",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
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  ],
  "message": null
}