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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: 1-43930184-A-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=43930184&ref=A&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "1",
      "pos": 43930184,
      "ref": "A",
      "alt": "G",
      "effect": "missense_variant",
      "transcript": "ENST00000347631.8",
      "consequences": [
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ST3GAL3",
          "gene_hgnc_id": 10866,
          "hgvs_c": "c.1091A>G",
          "hgvs_p": "p.Lys364Arg",
          "transcript": "NM_006279.5",
          "protein_id": "NP_006270.1",
          "transcript_support_level": null,
          "aa_start": 364,
          "aa_end": null,
          "aa_length": 375,
          "cds_start": 1091,
          "cds_end": null,
          "cds_length": 1128,
          "cdna_start": 1279,
          "cdna_end": null,
          "cdna_length": 2254,
          "mane_select": "ENST00000347631.8",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ST3GAL3",
          "gene_hgnc_id": 10866,
          "hgvs_c": "c.1091A>G",
          "hgvs_p": "p.Lys364Arg",
          "transcript": "ENST00000347631.8",
          "protein_id": "ENSP00000317192.6",
          "transcript_support_level": 5,
          "aa_start": 364,
          "aa_end": null,
          "aa_length": 375,
          "cds_start": 1091,
          "cds_end": null,
          "cds_length": 1128,
          "cdna_start": 1279,
          "cdna_end": null,
          "cdna_length": 2254,
          "mane_select": "NM_006279.5",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ST3GAL3",
          "gene_hgnc_id": 10866,
          "hgvs_c": "c.1205A>G",
          "hgvs_p": "p.Lys402Arg",
          "transcript": "ENST00000372372.7",
          "protein_id": "ENSP00000361447.2",
          "transcript_support_level": 1,
          "aa_start": 402,
          "aa_end": null,
          "aa_length": 413,
          "cds_start": 1205,
          "cds_end": null,
          "cds_length": 1242,
          "cdna_start": 1402,
          "cdna_end": null,
          "cdna_length": 2109,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ST3GAL3",
          "gene_hgnc_id": 10866,
          "hgvs_c": "c.1184A>G",
          "hgvs_p": "p.Lys395Arg",
          "transcript": "ENST00000361746.9",
          "protein_id": "ENSP00000354657.5",
          "transcript_support_level": 1,
          "aa_start": 395,
          "aa_end": null,
          "aa_length": 406,
          "cds_start": 1184,
          "cds_end": null,
          "cds_length": 1221,
          "cdna_start": 1261,
          "cdna_end": null,
          "cdna_length": 2229,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ST3GAL3",
          "gene_hgnc_id": 10866,
          "hgvs_c": "c.1136A>G",
          "hgvs_p": "p.Lys379Arg",
          "transcript": "ENST00000361392.9",
          "protein_id": "ENSP00000355341.5",
          "transcript_support_level": 1,
          "aa_start": 379,
          "aa_end": null,
          "aa_length": 390,
          "cds_start": 1136,
          "cds_end": null,
          "cds_length": 1173,
          "cdna_start": 1322,
          "cdna_end": null,
          "cdna_length": 2297,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ST3GAL3",
          "gene_hgnc_id": 10866,
          "hgvs_c": "c.1106A>G",
          "hgvs_p": "p.Lys369Arg",
          "transcript": "ENST00000372368.7",
          "protein_id": "ENSP00000361443.3",
          "transcript_support_level": 1,
          "aa_start": 369,
          "aa_end": null,
          "aa_length": 380,
          "cds_start": 1106,
          "cds_end": null,
          "cds_length": 1143,
          "cdna_start": 1136,
          "cdna_end": null,
          "cdna_length": 2074,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ST3GAL3",
          "gene_hgnc_id": 10866,
          "hgvs_c": "c.1043A>G",
          "hgvs_p": "p.Lys348Arg",
          "transcript": "ENST00000361400.9",
          "protein_id": "ENSP00000354748.4",
          "transcript_support_level": 1,
          "aa_start": 348,
          "aa_end": null,
          "aa_length": 359,
          "cds_start": 1043,
          "cds_end": null,
          "cds_length": 1080,
          "cdna_start": 1234,
          "cdna_end": null,
          "cdna_length": 2212,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ST3GAL3",
          "gene_hgnc_id": 10866,
          "hgvs_c": "c.1001A>G",
          "hgvs_p": "p.Lys334Arg",
          "transcript": "ENST00000372369.5",
          "protein_id": "ENSP00000361444.1",
          "transcript_support_level": 1,
          "aa_start": 334,
          "aa_end": null,
          "aa_length": 345,
          "cds_start": 1001,
          "cds_end": null,
          "cds_length": 1038,
          "cdna_start": 1001,
          "cdna_end": null,
          "cdna_length": 1038,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ST3GAL3",
          "gene_hgnc_id": 10866,
          "hgvs_c": "c.887A>G",
          "hgvs_p": "p.Lys296Arg",
          "transcript": "ENST00000533933.6",
          "protein_id": "ENSP00000432965.2",
          "transcript_support_level": 1,
          "aa_start": 296,
          "aa_end": null,
          "aa_length": 307,
          "cds_start": 887,
          "cds_end": null,
          "cds_length": 924,
          "cdna_start": 887,
          "cdna_end": null,
          "cdna_length": 1844,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ST3GAL3",
          "gene_hgnc_id": 10866,
          "hgvs_c": "c.875A>G",
          "hgvs_p": "p.Lys292Arg",
          "transcript": "ENST00000332628.11",
          "protein_id": "ENSP00000329755.7",
          "transcript_support_level": 1,
          "aa_start": 292,
          "aa_end": null,
          "aa_length": 303,
          "cds_start": 875,
          "cds_end": null,
          "cds_length": 912,
          "cdna_start": 877,
          "cdna_end": null,
          "cdna_length": 1681,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ST3GAL3",
          "gene_hgnc_id": 10866,
          "hgvs_c": "c.656A>G",
          "hgvs_p": "p.Lys219Arg",
          "transcript": "ENST00000531993.6",
          "protein_id": "ENSP00000432682.2",
          "transcript_support_level": 1,
          "aa_start": 219,
          "aa_end": null,
          "aa_length": 230,
          "cds_start": 656,
          "cds_end": null,
          "cds_length": 693,
          "cdna_start": 656,
          "cdna_end": null,
          "cdna_length": 693,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ST3GAL3",
          "gene_hgnc_id": 10866,
          "hgvs_c": "c.495A>G",
          "hgvs_p": "p.Glu165Glu",
          "transcript": "ENST00000361812.9",
          "protein_id": "ENSP00000355201.4",
          "transcript_support_level": 1,
          "aa_start": 165,
          "aa_end": null,
          "aa_length": 170,
          "cds_start": 495,
          "cds_end": null,
          "cds_length": 513,
          "cdna_start": 495,
          "cdna_end": null,
          "cdna_length": 1020,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ST3GAL3",
          "gene_hgnc_id": 10866,
          "hgvs_c": "c.450A>G",
          "hgvs_p": "p.Glu150Glu",
          "transcript": "ENST00000372362.6",
          "protein_id": "ENSP00000361437.2",
          "transcript_support_level": 1,
          "aa_start": 150,
          "aa_end": null,
          "aa_length": 155,
          "cds_start": 450,
          "cds_end": null,
          "cds_length": 468,
          "cdna_start": 450,
          "cdna_end": null,
          "cdna_length": 468,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ST3GAL3",
          "gene_hgnc_id": 10866,
          "hgvs_c": "c.402A>G",
          "hgvs_p": "p.Glu134Glu",
          "transcript": "ENST00000531451.5",
          "protein_id": "ENSP00000435603.1",
          "transcript_support_level": 1,
          "aa_start": 134,
          "aa_end": null,
          "aa_length": 139,
          "cds_start": 402,
          "cds_end": null,
          "cds_length": 420,
          "cdna_start": 402,
          "cdna_end": null,
          "cdna_length": 420,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ST3GAL3",
          "gene_hgnc_id": 10866,
          "hgvs_c": "n.*717A>G",
          "hgvs_p": null,
          "transcript": "ENST00000469715.6",
          "protein_id": "ENSP00000431700.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1277,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ST3GAL3",
          "gene_hgnc_id": 10866,
          "hgvs_c": "n.*868A>G",
          "hgvs_p": null,
          "transcript": "ENST00000490541.6",
          "protein_id": "ENSP00000435018.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1037,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ST3GAL3",
          "gene_hgnc_id": 10866,
          "hgvs_c": "n.*169A>G",
          "hgvs_p": null,
          "transcript": "ENST00000530581.5",
          "protein_id": "ENSP00000437293.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 893,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ST3GAL3",
          "gene_hgnc_id": 10866,
          "hgvs_c": "n.*288A>G",
          "hgvs_p": null,
          "transcript": "ENST00000533212.5",
          "protein_id": "ENSP00000435621.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 781,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ST3GAL3",
          "gene_hgnc_id": 10866,
          "hgvs_c": "n.*622A>G",
          "hgvs_p": null,
          "transcript": "ENST00000533997.6",
          "protein_id": "ENSP00000432071.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1191,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000284989",
          "gene_hgnc_id": null,
          "hgvs_c": "n.*2413A>G",
          "hgvs_p": null,
          "transcript": "ENST00000645057.1",
          "protein_id": "ENSP00000494063.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4037,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ST3GAL3",
          "gene_hgnc_id": 10866,
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      "computational_source_selected": "MetaRNN",
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      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
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      "bayesdelnoaf_score": -0.31,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 3.762,
      "phylop100way_prediction": "Uncertain_significance",
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      "spliceai_max_prediction": "Benign",
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          "verdict": "Likely_benign",
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          "verdict": "Uncertain_significance",
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          "inheritance_mode": "",
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      "clinvar_disease": "Developmental and epileptic encephalopathy,not specified",
      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
      "clinvar_submissions_summary": "US:2",
      "phenotype_combined": "not specified|Developmental and epileptic encephalopathy",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
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  "message": null
}