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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: 10-20852649-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=20852649&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "10",
      "pos": 20852649,
      "ref": "G",
      "alt": "A",
      "effect": "stop_gained,splice_region_variant",
      "transcript": "NM_006393.3",
      "consequences": [
        {
          "aa_ref": "R",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained",
            "splice_region_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NEBL",
          "gene_hgnc_id": 16932,
          "hgvs_c": "c.904C>T",
          "hgvs_p": "p.Arg302*",
          "transcript": "NM_006393.3",
          "protein_id": "NP_006384.1",
          "transcript_support_level": null,
          "aa_start": 302,
          "aa_end": null,
          "aa_length": 1014,
          "cds_start": 904,
          "cds_end": null,
          "cds_length": 3045,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000377122.9",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_006393.3"
        },
        {
          "aa_ref": "R",
          "aa_alt": "*",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained",
            "splice_region_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NEBL",
          "gene_hgnc_id": 16932,
          "hgvs_c": "c.904C>T",
          "hgvs_p": "p.Arg302*",
          "transcript": "ENST00000377122.9",
          "protein_id": "ENSP00000366326.4",
          "transcript_support_level": 1,
          "aa_start": 302,
          "aa_end": null,
          "aa_length": 1014,
          "cds_start": 904,
          "cds_end": null,
          "cds_length": 3045,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_006393.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000377122.9"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "NEBL",
          "gene_hgnc_id": 16932,
          "hgvs_c": "c.358-39709C>T",
          "hgvs_p": null,
          "transcript": "ENST00000417816.2",
          "protein_id": "ENSP00000393896.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 270,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 813,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000417816.2"
        },
        {
          "aa_ref": "R",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained",
            "splice_region_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NEBL",
          "gene_hgnc_id": 16932,
          "hgvs_c": "c.904C>T",
          "hgvs_p": "p.Arg302*",
          "transcript": "ENST00000863069.1",
          "protein_id": "ENSP00000533128.1",
          "transcript_support_level": null,
          "aa_start": 302,
          "aa_end": null,
          "aa_length": 1017,
          "cds_start": 904,
          "cds_end": null,
          "cds_length": 3054,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000863069.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained",
            "splice_region_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NEBL",
          "gene_hgnc_id": 16932,
          "hgvs_c": "c.904C>T",
          "hgvs_p": "p.Arg302*",
          "transcript": "ENST00000863070.1",
          "protein_id": "ENSP00000533129.1",
          "transcript_support_level": null,
          "aa_start": 302,
          "aa_end": null,
          "aa_length": 994,
          "cds_start": 904,
          "cds_end": null,
          "cds_length": 2985,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000863070.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained",
            "splice_region_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NEBL",
          "gene_hgnc_id": 16932,
          "hgvs_c": "c.904C>T",
          "hgvs_p": "p.Arg302*",
          "transcript": "ENST00000863068.1",
          "protein_id": "ENSP00000533127.1",
          "transcript_support_level": null,
          "aa_start": 302,
          "aa_end": null,
          "aa_length": 983,
          "cds_start": 904,
          "cds_end": null,
          "cds_length": 2952,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000863068.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained",
            "splice_region_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NEBL",
          "gene_hgnc_id": 16932,
          "hgvs_c": "c.904C>T",
          "hgvs_p": "p.Arg302*",
          "transcript": "ENST00000963739.1",
          "protein_id": "ENSP00000633798.1",
          "transcript_support_level": null,
          "aa_start": 302,
          "aa_end": null,
          "aa_length": 983,
          "cds_start": 904,
          "cds_end": null,
          "cds_length": 2952,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000963739.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained",
            "splice_region_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NEBL",
          "gene_hgnc_id": 16932,
          "hgvs_c": "c.802C>T",
          "hgvs_p": "p.Arg268*",
          "transcript": "ENST00000863062.1",
          "protein_id": "ENSP00000533121.1",
          "transcript_support_level": null,
          "aa_start": 268,
          "aa_end": null,
          "aa_length": 980,
          "cds_start": 802,
          "cds_end": null,
          "cds_length": 2943,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000863062.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained",
            "splice_region_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NEBL",
          "gene_hgnc_id": 16932,
          "hgvs_c": "c.904C>T",
          "hgvs_p": "p.Arg302*",
          "transcript": "ENST00000863067.1",
          "protein_id": "ENSP00000533126.1",
          "transcript_support_level": null,
          "aa_start": 302,
          "aa_end": null,
          "aa_length": 977,
          "cds_start": 904,
          "cds_end": null,
          "cds_length": 2934,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000863067.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained",
            "splice_region_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NEBL",
          "gene_hgnc_id": 16932,
          "hgvs_c": "c.700C>T",
          "hgvs_p": "p.Arg234*",
          "transcript": "ENST00000863065.1",
          "protein_id": "ENSP00000533124.1",
          "transcript_support_level": null,
          "aa_start": 234,
          "aa_end": null,
          "aa_length": 946,
          "cds_start": 700,
          "cds_end": null,
          "cds_length": 2841,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000863065.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained",
            "splice_region_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NEBL",
          "gene_hgnc_id": 16932,
          "hgvs_c": "c.802C>T",
          "hgvs_p": "p.Arg268*",
          "transcript": "ENST00000863064.1",
          "protein_id": "ENSP00000533123.1",
          "transcript_support_level": null,
          "aa_start": 268,
          "aa_end": null,
          "aa_length": 943,
          "cds_start": 802,
          "cds_end": null,
          "cds_length": 2832,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000863064.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained",
            "splice_region_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NEBL",
          "gene_hgnc_id": 16932,
          "hgvs_c": "c.688C>T",
          "hgvs_p": "p.Arg230*",
          "transcript": "ENST00000963743.1",
          "protein_id": "ENSP00000633802.1",
          "transcript_support_level": null,
          "aa_start": 230,
          "aa_end": null,
          "aa_length": 942,
          "cds_start": 688,
          "cds_end": null,
          "cds_length": 2829,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000963743.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained",
            "splice_region_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NEBL",
          "gene_hgnc_id": 16932,
          "hgvs_c": "c.904C>T",
          "hgvs_p": "p.Arg302*",
          "transcript": "ENST00000863063.1",
          "protein_id": "ENSP00000533122.1",
          "transcript_support_level": null,
          "aa_start": 302,
          "aa_end": null,
          "aa_length": 933,
          "cds_start": 904,
          "cds_end": null,
          "cds_length": 2802,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000863063.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained",
            "splice_region_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NEBL",
          "gene_hgnc_id": 16932,
          "hgvs_c": "c.802C>T",
          "hgvs_p": "p.Arg268*",
          "transcript": "ENST00000963741.1",
          "protein_id": "ENSP00000633800.1",
          "transcript_support_level": null,
          "aa_start": 268,
          "aa_end": null,
          "aa_length": 899,
          "cds_start": 802,
          "cds_end": null,
          "cds_length": 2700,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000963741.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained",
            "splice_region_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NEBL",
          "gene_hgnc_id": 16932,
          "hgvs_c": "c.904C>T",
          "hgvs_p": "p.Arg302*",
          "transcript": "ENST00000963740.1",
          "protein_id": "ENSP00000633799.1",
          "transcript_support_level": null,
          "aa_start": 302,
          "aa_end": null,
          "aa_length": 886,
          "cds_start": 904,
          "cds_end": null,
          "cds_length": 2661,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000963740.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained",
            "splice_region_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NEBL",
          "gene_hgnc_id": 16932,
          "hgvs_c": "c.904C>T",
          "hgvs_p": "p.Arg302*",
          "transcript": "ENST00000863066.1",
          "protein_id": "ENSP00000533125.1",
          "transcript_support_level": null,
          "aa_start": 302,
          "aa_end": null,
          "aa_length": 871,
          "cds_start": 904,
          "cds_end": null,
          "cds_length": 2616,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000863066.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained",
            "splice_region_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NEBL",
          "gene_hgnc_id": 16932,
          "hgvs_c": "c.904C>T",
          "hgvs_p": "p.Arg302*",
          "transcript": "ENST00000963742.1",
          "protein_id": "ENSP00000633801.1",
          "transcript_support_level": null,
          "aa_start": 302,
          "aa_end": null,
          "aa_length": 855,
          "cds_start": 904,
          "cds_end": null,
          "cds_length": 2568,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000963742.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained",
            "splice_region_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NEBL",
          "gene_hgnc_id": 16932,
          "hgvs_c": "c.856C>T",
          "hgvs_p": "p.Arg286*",
          "transcript": "XM_011519291.3",
          "protein_id": "XP_011517593.1",
          "transcript_support_level": null,
          "aa_start": 286,
          "aa_end": null,
          "aa_length": 998,
          "cds_start": 856,
          "cds_end": null,
          "cds_length": 2997,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_011519291.3"
        },
        {
          "aa_ref": "R",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained",
            "splice_region_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NEBL",
          "gene_hgnc_id": 16932,
          "hgvs_c": "c.856C>T",
          "hgvs_p": "p.Arg286*",
          "transcript": "XM_047424443.1",
          "protein_id": "XP_047280399.1",
          "transcript_support_level": null,
          "aa_start": 286,
          "aa_end": null,
          "aa_length": 998,
          "cds_start": 856,
          "cds_end": null,
          "cds_length": 2997,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047424443.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained",
            "splice_region_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NEBL",
          "gene_hgnc_id": 16932,
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      "splice_source_selected": "dbscSNV1_RF",
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": 0.59,
      "bayesdelnoaf_prediction": "Pathogenic",
      "phylop100way_score": 2.111,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
      "dbscsnv_ada_score": 0.914764502219459,
      "dbscsnv_ada_prediction": "Benign",
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": -4,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "BS2",
      "acmg_by_gene": [
        {
          "score": -4,
          "benign_score": 4,
          "pathogenic_score": 0,
          "criteria": [
            "BS2"
          ],
          "verdict": "Likely_benign",
          "transcript": "NM_006393.3",
          "gene_symbol": "NEBL",
          "hgnc_id": 16932,
          "effects": [
            "stop_gained",
            "splice_region_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.904C>T",
          "hgvs_p": "p.Arg302*"
        },
        {
          "score": 2,
          "benign_score": 0,
          "pathogenic_score": 2,
          "criteria": [
            "PP3_Moderate"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "XR_930737.4",
          "gene_symbol": "LOC102725112",
          "hgnc_id": null,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.224-367G>A",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "Primary dilated cardiomyopathy",
      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "US:1",
      "phenotype_combined": "Primary dilated cardiomyopathy",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
    }
  ],
  "message": null
}