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GeneBe API Showcase

This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.

API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.

Documentation & Advanced Usage

Complete API documentation:docs.genebe.net/docs/api/overview/

Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/

Python client for pandas:pypi.org/project/genebe/

Java CLI for VCF files:github.com/pstawinski/genebe-cli

All tools documented at:docs.genebe.net

API Request Examples for Variant: 1-47282456-A-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=47282456&ref=A&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "1",
      "pos": 47282456,
      "ref": "A",
      "alt": "G",
      "effect": "synonymous_variant",
      "transcript": "ENST00000371877.8",
      "consequences": [
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STIL",
          "gene_hgnc_id": 10879,
          "hgvs_c": "c.1137T>C",
          "hgvs_p": "p.Ser379Ser",
          "transcript": "NM_001048166.1",
          "protein_id": "NP_001041631.1",
          "transcript_support_level": null,
          "aa_start": 379,
          "aa_end": null,
          "aa_length": 1288,
          "cds_start": 1137,
          "cds_end": null,
          "cds_length": 3867,
          "cdna_start": 1292,
          "cdna_end": null,
          "cdna_length": 5019,
          "mane_select": "ENST00000371877.8",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STIL",
          "gene_hgnc_id": 10879,
          "hgvs_c": "c.1137T>C",
          "hgvs_p": "p.Ser379Ser",
          "transcript": "ENST00000371877.8",
          "protein_id": "ENSP00000360944.3",
          "transcript_support_level": 1,
          "aa_start": 379,
          "aa_end": null,
          "aa_length": 1288,
          "cds_start": 1137,
          "cds_end": null,
          "cds_length": 3867,
          "cdna_start": 1292,
          "cdna_end": null,
          "cdna_length": 5019,
          "mane_select": "NM_001048166.1",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STIL",
          "gene_hgnc_id": 10879,
          "hgvs_c": "c.1137T>C",
          "hgvs_p": "p.Ser379Ser",
          "transcript": "ENST00000360380.7",
          "protein_id": "ENSP00000353544.3",
          "transcript_support_level": 1,
          "aa_start": 379,
          "aa_end": null,
          "aa_length": 1287,
          "cds_start": 1137,
          "cds_end": null,
          "cds_length": 3864,
          "cdna_start": 1501,
          "cdna_end": null,
          "cdna_length": 5225,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STIL",
          "gene_hgnc_id": 10879,
          "hgvs_c": "c.1137T>C",
          "hgvs_p": "p.Ser379Ser",
          "transcript": "ENST00000396221.6",
          "protein_id": "ENSP00000379523.2",
          "transcript_support_level": 1,
          "aa_start": 379,
          "aa_end": null,
          "aa_length": 1270,
          "cds_start": 1137,
          "cds_end": null,
          "cds_length": 3813,
          "cdna_start": 1368,
          "cdna_end": null,
          "cdna_length": 4558,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STIL",
          "gene_hgnc_id": 10879,
          "hgvs_c": "c.996T>C",
          "hgvs_p": "p.Ser332Ser",
          "transcript": "ENST00000447475.7",
          "protein_id": "ENSP00000411664.3",
          "transcript_support_level": 1,
          "aa_start": 332,
          "aa_end": null,
          "aa_length": 1223,
          "cds_start": 996,
          "cds_end": null,
          "cds_length": 3672,
          "cdna_start": 1225,
          "cdna_end": null,
          "cdna_length": 3901,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STIL",
          "gene_hgnc_id": 10879,
          "hgvs_c": "c.1137T>C",
          "hgvs_p": "p.Ser379Ser",
          "transcript": "NM_001282936.1",
          "protein_id": "NP_001269865.1",
          "transcript_support_level": null,
          "aa_start": 379,
          "aa_end": null,
          "aa_length": 1287,
          "cds_start": 1137,
          "cds_end": null,
          "cds_length": 3864,
          "cdna_start": 1501,
          "cdna_end": null,
          "cdna_length": 5225,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STIL",
          "gene_hgnc_id": 10879,
          "hgvs_c": "c.1137T>C",
          "hgvs_p": "p.Ser379Ser",
          "transcript": "NM_003035.2",
          "protein_id": "NP_003026.2",
          "transcript_support_level": null,
          "aa_start": 379,
          "aa_end": null,
          "aa_length": 1287,
          "cds_start": 1137,
          "cds_end": null,
          "cds_length": 3864,
          "cdna_start": 1292,
          "cdna_end": null,
          "cdna_length": 5016,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STIL",
          "gene_hgnc_id": 10879,
          "hgvs_c": "c.1137T>C",
          "hgvs_p": "p.Ser379Ser",
          "transcript": "NM_001282937.1",
          "protein_id": "NP_001269866.1",
          "transcript_support_level": null,
          "aa_start": 379,
          "aa_end": null,
          "aa_length": 1270,
          "cds_start": 1137,
          "cds_end": null,
          "cds_length": 3813,
          "cdna_start": 1501,
          "cdna_end": null,
          "cdna_length": 5174,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STIL",
          "gene_hgnc_id": 10879,
          "hgvs_c": "c.996T>C",
          "hgvs_p": "p.Ser332Ser",
          "transcript": "NM_001282938.1",
          "protein_id": "NP_001269867.1",
          "transcript_support_level": null,
          "aa_start": 332,
          "aa_end": null,
          "aa_length": 1241,
          "cds_start": 996,
          "cds_end": null,
          "cds_length": 3726,
          "cdna_start": 1360,
          "cdna_end": null,
          "cdna_length": 5087,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STIL",
          "gene_hgnc_id": 10879,
          "hgvs_c": "c.996T>C",
          "hgvs_p": "p.Ser332Ser",
          "transcript": "NM_001377417.1",
          "protein_id": "NP_001364346.1",
          "transcript_support_level": null,
          "aa_start": 332,
          "aa_end": null,
          "aa_length": 1241,
          "cds_start": 996,
          "cds_end": null,
          "cds_length": 3726,
          "cdna_start": 1662,
          "cdna_end": null,
          "cdna_length": 5389,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STIL",
          "gene_hgnc_id": 10879,
          "hgvs_c": "c.996T>C",
          "hgvs_p": "p.Ser332Ser",
          "transcript": "ENST00000337817.10",
          "protein_id": "ENSP00000337367.6",
          "transcript_support_level": 5,
          "aa_start": 332,
          "aa_end": null,
          "aa_length": 1241,
          "cds_start": 996,
          "cds_end": null,
          "cds_length": 3726,
          "cdna_start": 1658,
          "cdna_end": null,
          "cdna_length": 5351,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STIL",
          "gene_hgnc_id": 10879,
          "hgvs_c": "c.996T>C",
          "hgvs_p": "p.Ser332Ser",
          "transcript": "ENST00000682977.1",
          "protein_id": "ENSP00000506981.1",
          "transcript_support_level": null,
          "aa_start": 332,
          "aa_end": null,
          "aa_length": 1241,
          "cds_start": 996,
          "cds_end": null,
          "cds_length": 3726,
          "cdna_start": 1227,
          "cdna_end": null,
          "cdna_length": 4471,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STIL",
          "gene_hgnc_id": 10879,
          "hgvs_c": "c.996T>C",
          "hgvs_p": "p.Ser332Ser",
          "transcript": "NM_001282939.1",
          "protein_id": "NP_001269868.1",
          "transcript_support_level": null,
          "aa_start": 332,
          "aa_end": null,
          "aa_length": 1223,
          "cds_start": 996,
          "cds_end": null,
          "cds_length": 3672,
          "cdna_start": 1225,
          "cdna_end": null,
          "cdna_length": 4898,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STIL",
          "gene_hgnc_id": 10879,
          "hgvs_c": "c.435T>C",
          "hgvs_p": "p.Ser145Ser",
          "transcript": "ENST00000683977.1",
          "protein_id": "ENSP00000507568.1",
          "transcript_support_level": null,
          "aa_start": 145,
          "aa_end": null,
          "aa_length": 728,
          "cds_start": 435,
          "cds_end": null,
          "cds_length": 2187,
          "cdna_start": 436,
          "cdna_end": null,
          "cdna_length": 3805,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STIL",
          "gene_hgnc_id": 10879,
          "hgvs_c": "c.1137T>C",
          "hgvs_p": "p.Ser379Ser",
          "transcript": "ENST00000436811.2",
          "protein_id": "ENSP00000409087.2",
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          "cds_start": 1137,
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          "cds_length": 2033,
          "cdna_start": 1137,
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          "cdna_length": 2033,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STIL",
          "gene_hgnc_id": 10879,
          "hgvs_c": "c.1137T>C",
          "hgvs_p": "p.Ser379Ser",
          "transcript": "XM_006710834.4",
          "protein_id": "XP_006710897.1",
          "transcript_support_level": null,
          "aa_start": 379,
          "aa_end": null,
          "aa_length": 1288,
          "cds_start": 1137,
          "cds_end": null,
          "cds_length": 3867,
          "cdna_start": 1366,
          "cdna_end": null,
          "cdna_length": 5093,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STIL",
          "gene_hgnc_id": 10879,
          "hgvs_c": "c.1137T>C",
          "hgvs_p": "p.Ser379Ser",
          "transcript": "XM_011541991.3",
          "protein_id": "XP_011540293.1",
          "transcript_support_level": null,
          "aa_start": 379,
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          "cds_start": 1137,
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          "cds_length": 3867,
          "cdna_start": 1392,
          "cdna_end": null,
          "cdna_length": 5119,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
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          "gene_symbol": "STIL",
          "gene_hgnc_id": 10879,
          "hgvs_c": "c.1137T>C",
          "hgvs_p": "p.Ser379Ser",
          "transcript": "XM_011541992.3",
          "protein_id": "XP_011540294.1",
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          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
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          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STIL",
          "gene_hgnc_id": 10879,
          "hgvs_c": "c.1137T>C",
          "hgvs_p": "p.Ser379Ser",
          "transcript": "XM_047428300.1",
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          "cdna_start": 1659,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
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          "exon_count": 18,
          "intron_rank": null,
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          "gene_symbol": "STIL",
          "gene_hgnc_id": 10879,
          "hgvs_c": "c.1137T>C",
          "hgvs_p": "p.Ser379Ser",
          "transcript": "XM_047428304.1",
          "protein_id": "XP_047284260.1",
          "transcript_support_level": null,
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          "aa_length": 1288,
          "cds_start": 1137,
          "cds_end": null,
          "cds_length": 3867,
          "cdna_start": 2274,
          "cdna_end": null,
          "cdna_length": 6001,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "STIL",
          "gene_hgnc_id": 10879,
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          "gene_hgnc_id": 10879,
          "hgvs_c": "n.272T>C",
          "hgvs_p": null,
          "transcript": "ENST00000682940.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3380,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "STIL",
      "gene_hgnc_id": 10879,
      "dbsnp": "rs587784447",
      "frequency_reference_population": null,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 0,
      "gnomad_exomes_af": null,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": null,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": null,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.49000000953674316,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.49,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 0.687,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
      "dbscsnv_ada_score": null,
      "dbscsnv_ada_prediction": null,
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": -3,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "PM2,BP4_Strong,BP7",
      "acmg_by_gene": [
        {
          "score": -3,
          "benign_score": 5,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Strong",
            "BP7"
          ],
          "verdict": "Likely_benign",
          "transcript": "ENST00000371877.8",
          "gene_symbol": "STIL",
          "hgnc_id": 10879,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.1137T>C",
          "hgvs_p": "p.Ser379Ser"
        }
      ],
      "clinvar_disease": " autosomal recessive, primary,Microcephaly 7",
      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "US:1",
      "phenotype_combined": "Microcephaly 7, primary, autosomal recessive",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
    }
  ],
  "message": null
}