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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: 15-78931505-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=78931505&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "15",
      "pos": 78931505,
      "ref": "G",
      "alt": "A",
      "effect": "missense_variant,splice_region_variant",
      "transcript": "NM_004390.5",
      "consequences": [
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CTSH",
          "gene_hgnc_id": 2535,
          "hgvs_c": "c.494C>T",
          "hgvs_p": "p.Ala165Val",
          "transcript": "NM_004390.5",
          "protein_id": "NP_004381.2",
          "transcript_support_level": null,
          "aa_start": 165,
          "aa_end": null,
          "aa_length": 335,
          "cds_start": 494,
          "cds_end": null,
          "cds_length": 1008,
          "cdna_start": 559,
          "cdna_end": null,
          "cdna_length": 2145,
          "mane_select": "ENST00000220166.10",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CTSH",
          "gene_hgnc_id": 2535,
          "hgvs_c": "c.494C>T",
          "hgvs_p": "p.Ala165Val",
          "transcript": "ENST00000220166.10",
          "protein_id": "ENSP00000220166.6",
          "transcript_support_level": 1,
          "aa_start": 165,
          "aa_end": null,
          "aa_length": 335,
          "cds_start": 494,
          "cds_end": null,
          "cds_length": 1008,
          "cdna_start": 559,
          "cdna_end": null,
          "cdna_length": 2145,
          "mane_select": "NM_004390.5",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CTSH",
          "gene_hgnc_id": 2535,
          "hgvs_c": "c.494C>T",
          "hgvs_p": "p.Ala165Val",
          "transcript": "ENST00000615999.5",
          "protein_id": "ENSP00000483303.2",
          "transcript_support_level": 1,
          "aa_start": 165,
          "aa_end": null,
          "aa_length": 358,
          "cds_start": 494,
          "cds_end": null,
          "cds_length": 1077,
          "cdna_start": 498,
          "cdna_end": null,
          "cdna_length": 1286,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CTSH",
          "gene_hgnc_id": 2535,
          "hgvs_c": "n.542C>T",
          "hgvs_p": null,
          "transcript": "ENST00000527715.6",
          "protein_id": null,
          "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": 3693,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CTSH",
          "gene_hgnc_id": 2535,
          "hgvs_c": "n.*978C>T",
          "hgvs_p": null,
          "transcript": "ENST00000533777.5",
          "protein_id": "ENSP00000431879.1",
          "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": 2101,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CTSH",
          "gene_hgnc_id": 2535,
          "hgvs_c": "n.*978C>T",
          "hgvs_p": null,
          "transcript": "ENST00000533777.5",
          "protein_id": "ENSP00000431879.1",
          "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": 2101,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CTSH",
          "gene_hgnc_id": 2535,
          "hgvs_c": "c.92C>T",
          "hgvs_p": "p.Ala31Val",
          "transcript": "NM_001319137.2",
          "protein_id": "NP_001306066.1",
          "transcript_support_level": null,
          "aa_start": 31,
          "aa_end": null,
          "aa_length": 201,
          "cds_start": 92,
          "cds_end": null,
          "cds_length": 606,
          "cdna_start": 1232,
          "cdna_end": null,
          "cdna_length": 2818,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CTSH",
          "gene_hgnc_id": 2535,
          "hgvs_c": "c.827C>T",
          "hgvs_p": "p.Ala276Val",
          "transcript": "ENST00000677534.1",
          "protein_id": "ENSP00000503261.1",
          "transcript_support_level": null,
          "aa_start": 276,
          "aa_end": null,
          "aa_length": 446,
          "cds_start": 827,
          "cds_end": null,
          "cds_length": 1341,
          "cdna_start": 892,
          "cdna_end": null,
          "cdna_length": 1760,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CTSH",
          "gene_hgnc_id": 2535,
          "hgvs_c": "c.590C>T",
          "hgvs_p": "p.Ala197Val",
          "transcript": "ENST00000676880.1",
          "protein_id": "ENSP00000504341.1",
          "transcript_support_level": null,
          "aa_start": 197,
          "aa_end": null,
          "aa_length": 367,
          "cds_start": 590,
          "cds_end": null,
          "cds_length": 1104,
          "cdna_start": 642,
          "cdna_end": null,
          "cdna_length": 1513,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CTSH",
          "gene_hgnc_id": 2535,
          "hgvs_c": "c.494C>T",
          "hgvs_p": "p.Ala165Val",
          "transcript": "ENST00000677936.1",
          "protein_id": "ENSP00000502988.1",
          "transcript_support_level": null,
          "aa_start": 165,
          "aa_end": null,
          "aa_length": 311,
          "cds_start": 494,
          "cds_end": null,
          "cds_length": 936,
          "cdna_start": 548,
          "cdna_end": null,
          "cdna_length": 2127,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CTSH",
          "gene_hgnc_id": 2535,
          "hgvs_c": "c.407C>T",
          "hgvs_p": "p.Ala136Val",
          "transcript": "ENST00000677789.1",
          "protein_id": "ENSP00000503073.1",
          "transcript_support_level": null,
          "aa_start": 136,
          "aa_end": null,
          "aa_length": 306,
          "cds_start": 407,
          "cds_end": null,
          "cds_length": 921,
          "cdna_start": 444,
          "cdna_end": null,
          "cdna_length": 1198,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CTSH",
          "gene_hgnc_id": 2535,
          "hgvs_c": "c.380C>T",
          "hgvs_p": "p.Ala127Val",
          "transcript": "NM_001411095.1",
          "protein_id": "NP_001398024.1",
          "transcript_support_level": null,
          "aa_start": 127,
          "aa_end": null,
          "aa_length": 297,
          "cds_start": 380,
          "cds_end": null,
          "cds_length": 894,
          "cdna_start": 672,
          "cdna_end": null,
          "cdna_length": 2258,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CTSH",
          "gene_hgnc_id": 2535,
          "hgvs_c": "c.380C>T",
          "hgvs_p": "p.Ala127Val",
          "transcript": "ENST00000528741.6",
          "protein_id": "ENSP00000435329.2",
          "transcript_support_level": 5,
          "aa_start": 127,
          "aa_end": null,
          "aa_length": 297,
          "cds_start": 380,
          "cds_end": null,
          "cds_length": 894,
          "cdna_start": 471,
          "cdna_end": null,
          "cdna_length": 1341,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CTSH",
          "gene_hgnc_id": 2535,
          "hgvs_c": "c.380C>T",
          "hgvs_p": "p.Ala127Val",
          "transcript": "ENST00000677316.1",
          "protein_id": "ENSP00000504051.1",
          "transcript_support_level": null,
          "aa_start": 127,
          "aa_end": null,
          "aa_length": 297,
          "cds_start": 380,
          "cds_end": null,
          "cds_length": 894,
          "cdna_start": 665,
          "cdna_end": null,
          "cdna_length": 1540,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CTSH",
          "gene_hgnc_id": 2535,
          "hgvs_c": "c.494C>T",
          "hgvs_p": "p.Ala165Val",
          "transcript": "ENST00000677810.1",
          "protein_id": "ENSP00000503585.1",
          "transcript_support_level": null,
          "aa_start": 165,
          "aa_end": null,
          "aa_length": 293,
          "cds_start": 494,
          "cds_end": null,
          "cds_length": 882,
          "cdna_start": 559,
          "cdna_end": null,
          "cdna_length": 2019,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CTSH",
          "gene_hgnc_id": 2535,
          "hgvs_c": "c.266C>T",
          "hgvs_p": "p.Ala89Val",
          "transcript": "ENST00000677011.1",
          "protein_id": "ENSP00000504778.1",
          "transcript_support_level": null,
          "aa_start": 89,
          "aa_end": null,
          "aa_length": 259,
          "cds_start": 266,
          "cds_end": null,
          "cds_length": 780,
          "cdna_start": 583,
          "cdna_end": null,
          "cdna_length": 2169,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CTSH",
          "gene_hgnc_id": 2535,
          "hgvs_c": "c.266C>T",
          "hgvs_p": "p.Ala89Val",
          "transcript": "ENST00000678644.1",
          "protein_id": "ENSP00000503269.1",
          "transcript_support_level": null,
          "aa_start": 89,
          "aa_end": null,
          "aa_length": 259,
          "cds_start": 266,
          "cds_end": null,
          "cds_length": 780,
          "cdna_start": 726,
          "cdna_end": null,
          "cdna_length": 1601,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CTSH",
          "gene_hgnc_id": 2535,
          "hgvs_c": "c.242C>T",
          "hgvs_p": "p.Ala81Val",
          "transcript": "ENST00000677207.1",
          "protein_id": "ENSP00000504828.1",
          "transcript_support_level": null,
          "aa_start": 81,
          "aa_end": null,
          "aa_length": 251,
          "cds_start": 242,
          "cds_end": null,
          "cds_length": 756,
          "cdna_start": 464,
          "cdna_end": null,
          "cdna_length": 1339,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CTSH",
          "gene_hgnc_id": 2535,
          "hgvs_c": "c.440C>T",
          "hgvs_p": "p.Ala147Val",
          "transcript": "XM_017021951.2",
          "protein_id": "XP_016877440.1",
          "transcript_support_level": null,
          "aa_start": 147,
          "aa_end": null,
          "aa_length": 317,
          "cds_start": 440,
          "cds_end": null,
          "cds_length": 954,
          "cdna_start": 697,
          "cdna_end": null,
          "cdna_length": 2283,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CTSH",
          "gene_hgnc_id": 2535,
          "hgvs_c": "n.*372C>T",
          "hgvs_p": null,
          "transcript": "ENST00000525807.6",
          "protein_id": "ENSP00000432935.2",
          "transcript_support_level": 5,
          "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": 1386,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
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      ],
      "gene_symbol": "CTSH",
      "gene_hgnc_id": 2535,
      "dbsnp": "rs61731865",
      "frequency_reference_population": 0.00001796687,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 29,
      "gnomad_exomes_af": 0.0000177856,
      "gnomad_genomes_af": 0.0000197081,
      "gnomad_exomes_ac": 26,
      "gnomad_genomes_ac": 3,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.6905271410942078,
      "computational_prediction_selected": "Uncertain_significance",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0.6460000276565552,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "dbscSNV1_RF",
      "revel_score": 0.299,
      "revel_prediction": "Uncertain_significance",
      "alphamissense_score": 0.9714,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.25,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 7.895,
      "phylop100way_prediction": "Pathogenic",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
      "dbscsnv_ada_score": 0.685726065793604,
      "dbscsnv_ada_prediction": "Benign",
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": 0,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "",
      "acmg_by_gene": [
        {
          "score": 0,
          "benign_score": 0,
          "pathogenic_score": 0,
          "criteria": [],
          "verdict": "Uncertain_significance",
          "transcript": "NM_004390.5",
          "gene_symbol": "CTSH",
          "hgnc_id": 2535,
          "effects": [
            "missense_variant",
            "splice_region_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.494C>T",
          "hgvs_p": "p.Ala165Val"
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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
    }
  ],
  "message": null
}