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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: 5-141656261-G-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=141656261&ref=G&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "5",
      "pos": 141656261,
      "ref": "G",
      "alt": "C",
      "effect": "missense_variant",
      "transcript": "NM_022481.6",
      "consequences": [
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARAP3",
          "gene_hgnc_id": 24097,
          "hgvs_c": "c.3805C>G",
          "hgvs_p": "p.Arg1269Gly",
          "transcript": "NM_022481.6",
          "protein_id": "NP_071926.4",
          "transcript_support_level": null,
          "aa_start": 1269,
          "aa_end": null,
          "aa_length": 1544,
          "cds_start": 3805,
          "cds_end": null,
          "cds_length": 4635,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000239440.9",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_022481.6"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARAP3",
          "gene_hgnc_id": 24097,
          "hgvs_c": "c.3805C>G",
          "hgvs_p": "p.Arg1269Gly",
          "transcript": "ENST00000239440.9",
          "protein_id": "ENSP00000239440.4",
          "transcript_support_level": 1,
          "aa_start": 1269,
          "aa_end": null,
          "aa_length": 1544,
          "cds_start": 3805,
          "cds_end": null,
          "cds_length": 4635,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_022481.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000239440.9"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARAP3",
          "gene_hgnc_id": 24097,
          "hgvs_c": "c.3805C>G",
          "hgvs_p": "p.Arg1269Gly",
          "transcript": "ENST00000955414.1",
          "protein_id": "ENSP00000625473.1",
          "transcript_support_level": null,
          "aa_start": 1269,
          "aa_end": null,
          "aa_length": 1563,
          "cds_start": 3805,
          "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": "ENST00000955414.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARAP3",
          "gene_hgnc_id": 24097,
          "hgvs_c": "c.3745C>G",
          "hgvs_p": "p.Arg1249Gly",
          "transcript": "ENST00000925545.1",
          "protein_id": "ENSP00000595604.1",
          "transcript_support_level": null,
          "aa_start": 1249,
          "aa_end": null,
          "aa_length": 1543,
          "cds_start": 3745,
          "cds_end": null,
          "cds_length": 4632,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000925545.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARAP3",
          "gene_hgnc_id": 24097,
          "hgvs_c": "c.3766C>G",
          "hgvs_p": "p.Arg1256Gly",
          "transcript": "ENST00000890876.1",
          "protein_id": "ENSP00000560935.1",
          "transcript_support_level": null,
          "aa_start": 1256,
          "aa_end": null,
          "aa_length": 1531,
          "cds_start": 3766,
          "cds_end": null,
          "cds_length": 4596,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000890876.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARAP3",
          "gene_hgnc_id": 24097,
          "hgvs_c": "c.3763C>G",
          "hgvs_p": "p.Arg1255Gly",
          "transcript": "ENST00000925546.1",
          "protein_id": "ENSP00000595605.1",
          "transcript_support_level": null,
          "aa_start": 1255,
          "aa_end": null,
          "aa_length": 1530,
          "cds_start": 3763,
          "cds_end": null,
          "cds_length": 4593,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000925546.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARAP3",
          "gene_hgnc_id": 24097,
          "hgvs_c": "c.3745C>G",
          "hgvs_p": "p.Arg1249Gly",
          "transcript": "ENST00000890874.1",
          "protein_id": "ENSP00000560933.1",
          "transcript_support_level": null,
          "aa_start": 1249,
          "aa_end": null,
          "aa_length": 1524,
          "cds_start": 3745,
          "cds_end": null,
          "cds_length": 4575,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000890874.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARAP3",
          "gene_hgnc_id": 24097,
          "hgvs_c": "c.3757C>G",
          "hgvs_p": "p.Arg1253Gly",
          "transcript": "ENST00000890873.1",
          "protein_id": "ENSP00000560932.1",
          "transcript_support_level": null,
          "aa_start": 1253,
          "aa_end": null,
          "aa_length": 1515,
          "cds_start": 3757,
          "cds_end": null,
          "cds_length": 4548,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000890873.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARAP3",
          "gene_hgnc_id": 24097,
          "hgvs_c": "c.3745C>G",
          "hgvs_p": "p.Arg1249Gly",
          "transcript": "ENST00000955415.1",
          "protein_id": "ENSP00000625474.1",
          "transcript_support_level": null,
          "aa_start": 1249,
          "aa_end": null,
          "aa_length": 1511,
          "cds_start": 3745,
          "cds_end": null,
          "cds_length": 4536,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000955415.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARAP3",
          "gene_hgnc_id": 24097,
          "hgvs_c": "c.3592C>G",
          "hgvs_p": "p.Arg1198Gly",
          "transcript": "ENST00000890875.1",
          "protein_id": "ENSP00000560934.1",
          "transcript_support_level": null,
          "aa_start": 1198,
          "aa_end": null,
          "aa_length": 1473,
          "cds_start": 3592,
          "cds_end": null,
          "cds_length": 4422,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000890875.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARAP3",
          "gene_hgnc_id": 24097,
          "hgvs_c": "c.3298C>G",
          "hgvs_p": "p.Arg1100Gly",
          "transcript": "ENST00000508305.5",
          "protein_id": "ENSP00000421826.1",
          "transcript_support_level": 2,
          "aa_start": 1100,
          "aa_end": null,
          "aa_length": 1375,
          "cds_start": 3298,
          "cds_end": null,
          "cds_length": 4128,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000508305.5"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARAP3",
          "gene_hgnc_id": 24097,
          "hgvs_c": "c.3298C>G",
          "hgvs_p": "p.Arg1100Gly",
          "transcript": "ENST00000626478.2",
          "protein_id": "ENSP00000486980.1",
          "transcript_support_level": 5,
          "aa_start": 1100,
          "aa_end": null,
          "aa_length": 1375,
          "cds_start": 3298,
          "cds_end": null,
          "cds_length": 4128,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000626478.2"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "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": "ARAP3",
          "gene_hgnc_id": 24097,
          "hgvs_c": "c.2791C>G",
          "hgvs_p": "p.Arg931Gly",
          "transcript": "ENST00000513878.5",
          "protein_id": "ENSP00000421468.1",
          "transcript_support_level": 2,
          "aa_start": 931,
          "aa_end": null,
          "aa_length": 1193,
          "cds_start": 2791,
          "cds_end": null,
          "cds_length": 3582,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000513878.5"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARAP3",
          "gene_hgnc_id": 24097,
          "hgvs_c": "c.3805C>G",
          "hgvs_p": "p.Arg1269Gly",
          "transcript": "XM_047417505.1",
          "protein_id": "XP_047273461.1",
          "transcript_support_level": null,
          "aa_start": 1269,
          "aa_end": null,
          "aa_length": 1544,
          "cds_start": 3805,
          "cds_end": null,
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          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "XM_047417505.1"
        },
        {
          "aa_ref": "R",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARAP3",
          "gene_hgnc_id": 24097,
          "hgvs_c": "c.3805C>G",
          "hgvs_p": "p.Arg1269Gly",
          "transcript": "XM_047417506.1",
          "protein_id": "XP_047273462.1",
          "transcript_support_level": null,
          "aa_start": 1269,
          "aa_end": null,
          "aa_length": 1531,
          "cds_start": 3805,
          "cds_end": null,
          "cds_length": 4596,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047417506.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARAP3",
          "gene_hgnc_id": 24097,
          "hgvs_c": "c.3745C>G",
          "hgvs_p": "p.Arg1249Gly",
          "transcript": "XM_005268498.3",
          "protein_id": "XP_005268555.1",
          "transcript_support_level": null,
          "aa_start": 1249,
          "aa_end": null,
          "aa_length": 1524,
          "cds_start": 3745,
          "cds_end": null,
          "cds_length": 4575,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "XM_005268498.3"
        },
        {
          "aa_ref": "R",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARAP3",
          "gene_hgnc_id": 24097,
          "hgvs_c": "c.3745C>G",
          "hgvs_p": "p.Arg1249Gly",
          "transcript": "XM_047417507.1",
          "protein_id": "XP_047273463.1",
          "transcript_support_level": null,
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          "cdna_start": null,
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          "biotype": "protein_coding",
          "feature": "XM_047417507.1"
        },
        {
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          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
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          "gene_symbol": "ARAP3",
          "gene_hgnc_id": 24097,
          "hgvs_c": "c.3592C>G",
          "hgvs_p": "p.Arg1198Gly",
          "transcript": "XM_047417508.1",
          "protein_id": "XP_047273464.1",
          "transcript_support_level": null,
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          "aa_length": 1473,
          "cds_start": 3592,
          "cds_end": null,
          "cds_length": 4422,
          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "XM_047417508.1"
        },
        {
          "aa_ref": "R",
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          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARAP3",
          "gene_hgnc_id": 24097,
          "hgvs_c": "c.3571C>G",
          "hgvs_p": "p.Arg1191Gly",
          "transcript": "XM_005268499.2",
          "protein_id": "XP_005268556.1",
          "transcript_support_level": null,
          "aa_start": 1191,
          "aa_end": null,
          "aa_length": 1466,
          "cds_start": 3571,
          "cds_end": null,
          "cds_length": 4401,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_005268499.2"
        },
        {
          "aa_ref": "R",
          "aa_alt": "G",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARAP3",
          "gene_hgnc_id": 24097,
          "hgvs_c": "c.3592C>G",
          "hgvs_p": "p.Arg1198Gly",
          "transcript": "XM_047417509.1",
          "protein_id": "XP_047273465.1",
          "transcript_support_level": null,
          "aa_start": 1198,
          "aa_end": null,
          "aa_length": 1460,
          "cds_start": 3592,
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      "gnomad_exomes_af": 6.84057e-7,
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      "computational_score_selected": 0.35150033235549927,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "MetaRNN",
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      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
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      "revel_prediction": "Benign",
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      "bayesdelnoaf_score": -0.34,
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      "phylop100way_score": 2.986,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
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      "acmg_score": 1,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PM2,BP4",
      "acmg_by_gene": [
        {
          "score": 1,
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          "pathogenic_score": 2,
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          "verdict": "Uncertain_significance",
          "transcript": "NM_022481.6",
          "gene_symbol": "ARAP3",
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          "effects": [
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          "inheritance_mode": "",
          "hgvs_c": "c.3805C>G",
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      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}