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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: 3-124438959-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=124438959&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "3",
      "pos": 124438959,
      "ref": "G",
      "alt": "A",
      "effect": "synonymous_variant",
      "transcript": "NM_001024660.5",
      "consequences": [
        {
          "aa_ref": "K",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 60,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KALRN",
          "gene_hgnc_id": 4814,
          "hgvs_c": "c.3120G>A",
          "hgvs_p": "p.Lys1040Lys",
          "transcript": "NM_001388419.1",
          "protein_id": "NP_001375348.1",
          "transcript_support_level": null,
          "aa_start": 1040,
          "aa_end": null,
          "aa_length": 2986,
          "cds_start": 3120,
          "cds_end": null,
          "cds_length": 8961,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000682506.1",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001388419.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": "K",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 60,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KALRN",
          "gene_hgnc_id": 4814,
          "hgvs_c": "c.3120G>A",
          "hgvs_p": "p.Lys1040Lys",
          "transcript": "ENST00000682506.1",
          "protein_id": "ENSP00000508359.1",
          "transcript_support_level": null,
          "aa_start": 1040,
          "aa_end": null,
          "aa_length": 2986,
          "cds_start": 3120,
          "cds_end": null,
          "cds_length": 8961,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001388419.1",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000682506.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 34,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KALRN",
          "gene_hgnc_id": 4814,
          "hgvs_c": "c.3114G>A",
          "hgvs_p": "p.Lys1038Lys",
          "transcript": "ENST00000240874.7",
          "protein_id": "ENSP00000240874.3",
          "transcript_support_level": 1,
          "aa_start": 1038,
          "aa_end": null,
          "aa_length": 1663,
          "cds_start": 3114,
          "cds_end": null,
          "cds_length": 4992,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000240874.7"
        },
        {
          "aa_ref": "K",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 34,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KALRN",
          "gene_hgnc_id": 4814,
          "hgvs_c": "c.3087G>A",
          "hgvs_p": "p.Lys1029Lys",
          "transcript": "ENST00000460856.5",
          "protein_id": "ENSP00000418611.1",
          "transcript_support_level": 1,
          "aa_start": 1029,
          "aa_end": null,
          "aa_length": 1654,
          "cds_start": 3087,
          "cds_end": null,
          "cds_length": 4965,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000460856.5"
        },
        {
          "aa_ref": "K",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 60,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KALRN",
          "gene_hgnc_id": 4814,
          "hgvs_c": "c.3114G>A",
          "hgvs_p": "p.Lys1038Lys",
          "transcript": "NM_001024660.5",
          "protein_id": "NP_001019831.2",
          "transcript_support_level": null,
          "aa_start": 1038,
          "aa_end": null,
          "aa_length": 2986,
          "cds_start": 3114,
          "cds_end": null,
          "cds_length": 8961,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001024660.5"
        },
        {
          "aa_ref": "K",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 60,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KALRN",
          "gene_hgnc_id": 4814,
          "hgvs_c": "c.3114G>A",
          "hgvs_p": "p.Lys1038Lys",
          "transcript": "ENST00000360013.7",
          "protein_id": "ENSP00000353109.3",
          "transcript_support_level": 5,
          "aa_start": 1038,
          "aa_end": null,
          "aa_length": 2986,
          "cds_start": 3114,
          "cds_end": null,
          "cds_length": 8961,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000360013.7"
        },
        {
          "aa_ref": "K",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 59,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KALRN",
          "gene_hgnc_id": 4814,
          "hgvs_c": "c.3018G>A",
          "hgvs_p": "p.Lys1006Lys",
          "transcript": "ENST00000354186.8",
          "protein_id": "ENSP00000346122.4",
          "transcript_support_level": 5,
          "aa_start": 1006,
          "aa_end": null,
          "aa_length": 2954,
          "cds_start": 3018,
          "cds_end": null,
          "cds_length": 8865,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000354186.8"
        },
        {
          "aa_ref": "K",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 49,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KALRN",
          "gene_hgnc_id": 4814,
          "hgvs_c": "c.3114G>A",
          "hgvs_p": "p.Lys1038Lys",
          "transcript": "NM_001322988.2",
          "protein_id": "NP_001309917.1",
          "transcript_support_level": null,
          "aa_start": 1038,
          "aa_end": null,
          "aa_length": 2396,
          "cds_start": 3114,
          "cds_end": null,
          "cds_length": 7191,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001322988.2"
        },
        {
          "aa_ref": "K",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 39,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KALRN",
          "gene_hgnc_id": 4814,
          "hgvs_c": "c.1191G>A",
          "hgvs_p": "p.Lys397Lys",
          "transcript": "NM_001388412.1",
          "protein_id": "NP_001375341.1",
          "transcript_support_level": null,
          "aa_start": 397,
          "aa_end": null,
          "aa_length": 1756,
          "cds_start": 1191,
          "cds_end": null,
          "cds_length": 5271,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001388412.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 34,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KALRN",
          "gene_hgnc_id": 4814,
          "hgvs_c": "c.3120G>A",
          "hgvs_p": "p.Lys1040Lys",
          "transcript": "NM_001388417.1",
          "protein_id": "NP_001375346.1",
          "transcript_support_level": null,
          "aa_start": 1040,
          "aa_end": null,
          "aa_length": 1665,
          "cds_start": 3120,
          "cds_end": null,
          "cds_length": 4998,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001388417.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 34,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KALRN",
          "gene_hgnc_id": 4814,
          "hgvs_c": "c.3114G>A",
          "hgvs_p": "p.Lys1038Lys",
          "transcript": "NM_003947.6",
          "protein_id": "NP_003938.1",
          "transcript_support_level": null,
          "aa_start": 1038,
          "aa_end": null,
          "aa_length": 1663,
          "cds_start": 3114,
          "cds_end": null,
          "cds_length": 4992,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_003947.6"
        },
        {
          "aa_ref": "K",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 34,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KALRN",
          "gene_hgnc_id": 4814,
          "hgvs_c": "c.3093G>A",
          "hgvs_p": "p.Lys1031Lys",
          "transcript": "NM_001388418.1",
          "protein_id": "NP_001375347.1",
          "transcript_support_level": null,
          "aa_start": 1031,
          "aa_end": null,
          "aa_length": 1656,
          "cds_start": 3093,
          "cds_end": null,
          "cds_length": 4971,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001388418.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 34,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KALRN",
          "gene_hgnc_id": 4814,
          "hgvs_c": "c.3087G>A",
          "hgvs_p": "p.Lys1029Lys",
          "transcript": "NM_001322989.2",
          "protein_id": "NP_001309918.1",
          "transcript_support_level": null,
          "aa_start": 1029,
          "aa_end": null,
          "aa_length": 1654,
          "cds_start": 3087,
          "cds_end": null,
          "cds_length": 4965,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001322989.2"
        },
        {
          "aa_ref": "K",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 34,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KALRN",
          "gene_hgnc_id": 4814,
          "hgvs_c": "c.3075G>A",
          "hgvs_p": "p.Lys1025Lys",
          "transcript": "NM_001322990.2",
          "protein_id": "NP_001309919.1",
          "transcript_support_level": null,
          "aa_start": 1025,
          "aa_end": null,
          "aa_length": 1650,
          "cds_start": 3075,
          "cds_end": null,
          "cds_length": 4953,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001322990.2"
        },
        {
          "aa_ref": "K",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 34,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KALRN",
          "gene_hgnc_id": 4814,
          "hgvs_c": "c.3048G>A",
          "hgvs_p": "p.Lys1016Lys",
          "transcript": "NM_001322991.2",
          "protein_id": "NP_001309920.1",
          "transcript_support_level": null,
          "aa_start": 1016,
          "aa_end": null,
          "aa_length": 1641,
          "cds_start": 3048,
          "cds_end": null,
          "cds_length": 4926,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001322991.2"
        },
        {
          "aa_ref": "K",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KALRN",
          "gene_hgnc_id": 4814,
          "hgvs_c": "c.3114G>A",
          "hgvs_p": "p.Lys1038Lys",
          "transcript": "ENST00000684186.1",
          "protein_id": "ENSP00000507078.1",
          "transcript_support_level": null,
          "aa_start": 1038,
          "aa_end": null,
          "aa_length": 1198,
          "cds_start": 3114,
          "cds_end": null,
          "cds_length": 3597,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000684186.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KALRN",
          "gene_hgnc_id": 4814,
          "hgvs_c": "c.1191G>A",
          "hgvs_p": "p.Lys397Lys",
          "transcript": "ENST00000682540.1",
          "protein_id": "ENSP00000508328.1",
          "transcript_support_level": null,
          "aa_start": 397,
          "aa_end": null,
          "aa_length": 1059,
          "cds_start": 1191,
          "cds_end": null,
          "cds_length": 3180,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000682540.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KALRN",
          "gene_hgnc_id": 4814,
          "hgvs_c": "c.1275G>A",
          "hgvs_p": "p.Lys425Lys",
          "transcript": "ENST00000682575.1",
          "protein_id": "ENSP00000507354.1",
          "transcript_support_level": null,
          "aa_start": 425,
          "aa_end": null,
          "aa_length": 1040,
          "cds_start": 1275,
          "cds_end": null,
          "cds_length": 3123,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000682575.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KALRN",
          "gene_hgnc_id": 4814,
          "hgvs_c": "c.1191G>A",
          "hgvs_p": "p.Lys397Lys",
          "transcript": "NM_001388413.1",
          "protein_id": "NP_001375342.1",
          "transcript_support_level": null,
          "aa_start": 397,
          "aa_end": null,
          "aa_length": 1022,
          "cds_start": 1191,
          "cds_end": null,
          "cds_length": 3069,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001388413.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": "K",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KALRN",
          "gene_hgnc_id": 4814,
          "hgvs_c": "c.1191G>A",
          "hgvs_p": "p.Lys397Lys",
          "transcript": "ENST00000682695.1",
          "protein_id": "ENSP00000506956.1",
          "transcript_support_level": null,
          "aa_start": 397,
          "aa_end": null,
          "aa_length": 1022,
          "cds_start": 1191,
          "cds_end": null,
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      "gnomad_genomes_homalt": 29,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.18400000035762787,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "REVEL",
      "splice_score_selected": null,
      "splice_prediction_selected": null,
      "splice_source_selected": null,
      "revel_score": 0.184,
      "revel_prediction": "Benign",
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.46,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 0.661,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": null,
      "spliceai_max_prediction": null,
      "dbscsnv_ada_score": null,
      "dbscsnv_ada_prediction": null,
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": -11,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4,BP6,BP7,BA1",
      "acmg_by_gene": [
        {
          "score": -11,
          "benign_score": 11,
          "pathogenic_score": 0,
          "criteria": [
            "BP4",
            "BP6",
            "BP7",
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "NM_001024660.5",
          "gene_symbol": "KALRN",
          "hgnc_id": 4814,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.3114G>A",
          "hgvs_p": "p.Lys1038Lys"
        }
      ],
      "clinvar_disease": "KALRN-related disorder",
      "clinvar_classification": "Benign",
      "clinvar_review_status": "no assertion criteria provided",
      "clinvar_submissions_summary": "null",
      "phenotype_combined": "KALRN-related disorder",
      "pathogenicity_classification_combined": "Benign",
      "custom_annotations": null
    }
  ],
  "message": null
}