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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: 8-47972876-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=47972876&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "8",
      "pos": 47972876,
      "ref": "T",
      "alt": "C",
      "effect": "synonymous_variant",
      "transcript": "NM_005914.4",
      "consequences": [
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MCM4",
          "gene_hgnc_id": 6947,
          "hgvs_c": "c.1948T>C",
          "hgvs_p": "p.Leu650Leu",
          "transcript": "NM_182746.3",
          "protein_id": "NP_877423.1",
          "transcript_support_level": null,
          "aa_start": 650,
          "aa_end": null,
          "aa_length": 863,
          "cds_start": 1948,
          "cds_end": null,
          "cds_length": 2592,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000649973.1",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_182746.3"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MCM4",
          "gene_hgnc_id": 6947,
          "hgvs_c": "c.1948T>C",
          "hgvs_p": "p.Leu650Leu",
          "transcript": "ENST00000649973.1",
          "protein_id": "ENSP00000496964.1",
          "transcript_support_level": null,
          "aa_start": 650,
          "aa_end": null,
          "aa_length": 863,
          "cds_start": 1948,
          "cds_end": null,
          "cds_length": 2592,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_182746.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000649973.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MCM4",
          "gene_hgnc_id": 6947,
          "hgvs_c": "c.1948T>C",
          "hgvs_p": "p.Leu650Leu",
          "transcript": "ENST00000262105.6",
          "protein_id": "ENSP00000262105.2",
          "transcript_support_level": 1,
          "aa_start": 650,
          "aa_end": null,
          "aa_length": 863,
          "cds_start": 1948,
          "cds_end": null,
          "cds_length": 2592,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000262105.6"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MCM4",
          "gene_hgnc_id": 6947,
          "hgvs_c": "c.2071T>C",
          "hgvs_p": "p.Leu691Leu",
          "transcript": "ENST00000649838.1",
          "protein_id": "ENSP00000497648.1",
          "transcript_support_level": null,
          "aa_start": 691,
          "aa_end": null,
          "aa_length": 904,
          "cds_start": 2071,
          "cds_end": null,
          "cds_length": 2715,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000649838.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MCM4",
          "gene_hgnc_id": 6947,
          "hgvs_c": "c.2071T>C",
          "hgvs_p": "p.Leu691Leu",
          "transcript": "ENST00000936720.1",
          "protein_id": "ENSP00000606779.1",
          "transcript_support_level": null,
          "aa_start": 691,
          "aa_end": null,
          "aa_length": 904,
          "cds_start": 2071,
          "cds_end": null,
          "cds_length": 2715,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000936720.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MCM4",
          "gene_hgnc_id": 6947,
          "hgvs_c": "c.1972T>C",
          "hgvs_p": "p.Leu658Leu",
          "transcript": "ENST00000936718.1",
          "protein_id": "ENSP00000606777.1",
          "transcript_support_level": null,
          "aa_start": 658,
          "aa_end": null,
          "aa_length": 871,
          "cds_start": 1972,
          "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": "ENST00000936718.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MCM4",
          "gene_hgnc_id": 6947,
          "hgvs_c": "c.1966T>C",
          "hgvs_p": "p.Leu656Leu",
          "transcript": "ENST00000884674.1",
          "protein_id": "ENSP00000554733.1",
          "transcript_support_level": null,
          "aa_start": 656,
          "aa_end": null,
          "aa_length": 869,
          "cds_start": 1966,
          "cds_end": null,
          "cds_length": 2610,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000884674.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MCM4",
          "gene_hgnc_id": 6947,
          "hgvs_c": "c.1966T>C",
          "hgvs_p": "p.Leu656Leu",
          "transcript": "ENST00000936717.1",
          "protein_id": "ENSP00000606776.1",
          "transcript_support_level": null,
          "aa_start": 656,
          "aa_end": null,
          "aa_length": 869,
          "cds_start": 1966,
          "cds_end": null,
          "cds_length": 2610,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000936717.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MCM4",
          "gene_hgnc_id": 6947,
          "hgvs_c": "c.1948T>C",
          "hgvs_p": "p.Leu650Leu",
          "transcript": "NM_005914.4",
          "protein_id": "NP_005905.2",
          "transcript_support_level": null,
          "aa_start": 650,
          "aa_end": null,
          "aa_length": 863,
          "cds_start": 1948,
          "cds_end": null,
          "cds_length": 2592,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_005914.4"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MCM4",
          "gene_hgnc_id": 6947,
          "hgvs_c": "c.1933T>C",
          "hgvs_p": "p.Leu645Leu",
          "transcript": "ENST00000884671.1",
          "protein_id": "ENSP00000554730.1",
          "transcript_support_level": null,
          "aa_start": 645,
          "aa_end": null,
          "aa_length": 858,
          "cds_start": 1933,
          "cds_end": null,
          "cds_length": 2577,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000884671.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MCM4",
          "gene_hgnc_id": 6947,
          "hgvs_c": "c.1933T>C",
          "hgvs_p": "p.Leu645Leu",
          "transcript": "ENST00000884672.1",
          "protein_id": "ENSP00000554731.1",
          "transcript_support_level": null,
          "aa_start": 645,
          "aa_end": null,
          "aa_length": 858,
          "cds_start": 1933,
          "cds_end": null,
          "cds_length": 2577,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000884672.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MCM4",
          "gene_hgnc_id": 6947,
          "hgvs_c": "c.1873T>C",
          "hgvs_p": "p.Leu625Leu",
          "transcript": "ENST00000936721.1",
          "protein_id": "ENSP00000606780.1",
          "transcript_support_level": null,
          "aa_start": 625,
          "aa_end": null,
          "aa_length": 838,
          "cds_start": 1873,
          "cds_end": null,
          "cds_length": 2517,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000936721.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MCM4",
          "gene_hgnc_id": 6947,
          "hgvs_c": "c.1852T>C",
          "hgvs_p": "p.Leu618Leu",
          "transcript": "ENST00000884673.1",
          "protein_id": "ENSP00000554732.1",
          "transcript_support_level": null,
          "aa_start": 618,
          "aa_end": null,
          "aa_length": 831,
          "cds_start": 1852,
          "cds_end": null,
          "cds_length": 2496,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000884673.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MCM4",
          "gene_hgnc_id": 6947,
          "hgvs_c": "c.1801T>C",
          "hgvs_p": "p.Leu601Leu",
          "transcript": "ENST00000936722.1",
          "protein_id": "ENSP00000606781.1",
          "transcript_support_level": null,
          "aa_start": 601,
          "aa_end": null,
          "aa_length": 814,
          "cds_start": 1801,
          "cds_end": null,
          "cds_length": 2445,
          "cdna_start": null,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000936722.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
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          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MCM4",
          "gene_hgnc_id": 6947,
          "hgvs_c": "c.1798T>C",
          "hgvs_p": "p.Leu600Leu",
          "transcript": "ENST00000649919.1",
          "protein_id": "ENSP00000498202.1",
          "transcript_support_level": null,
          "aa_start": 600,
          "aa_end": null,
          "aa_length": 813,
          "cds_start": 1798,
          "cds_end": null,
          "cds_length": 2442,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000649919.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MCM4",
          "gene_hgnc_id": 6947,
          "hgvs_c": "c.1606T>C",
          "hgvs_p": "p.Leu536Leu",
          "transcript": "ENST00000650216.1",
          "protein_id": "ENSP00000497093.1",
          "transcript_support_level": null,
          "aa_start": 536,
          "aa_end": null,
          "aa_length": 749,
          "cds_start": 1606,
          "cds_end": null,
          "cds_length": 2250,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000650216.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MCM4",
          "gene_hgnc_id": 6947,
          "hgvs_c": "c.1948T>C",
          "hgvs_p": "p.Leu650Leu",
          "transcript": "ENST00000648407.1",
          "protein_id": "ENSP00000497881.1",
          "transcript_support_level": null,
          "aa_start": 650,
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          "cds_start": 1948,
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          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MCM4",
          "gene_hgnc_id": 6947,
          "hgvs_c": "c.1510T>C",
          "hgvs_p": "p.Leu504Leu",
          "transcript": "ENST00000936719.1",
          "protein_id": "ENSP00000606778.1",
          "transcript_support_level": null,
          "aa_start": 504,
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          "cds_start": 1510,
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          "cds_length": 2154,
          "cdna_start": null,
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          "cdna_length": null,
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          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000936719.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MCM4",
          "gene_hgnc_id": 6947,
          "hgvs_c": "c.1105T>C",
          "hgvs_p": "p.Leu369Leu",
          "transcript": "ENST00000520637.2",
          "protein_id": "ENSP00000427875.2",
          "transcript_support_level": 2,
          "aa_start": 369,
          "aa_end": null,
          "aa_length": 582,
          "cds_start": 1105,
          "cds_end": null,
          "cds_length": 1749,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000520637.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 9,
          "intron_rank_end": null,
          "gene_symbol": "MCM4",
          "gene_hgnc_id": 6947,
          "hgvs_c": "c.1175-3810T>C",
          "hgvs_p": null,
          "transcript": "ENST00000697122.1",
          "protein_id": "ENSP00000513122.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 394,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1185,
          "cdna_start": null,
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      "dbsnp": "rs762679",
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      "hom_count_reference_population": 0,
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      "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": -0.5199999809265137,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
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      "alphamissense_score": null,
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      "bayesdelnoaf_score": -0.52,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 7.092,
      "phylop100way_prediction": "Uncertain_significance",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
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      "acmg_score": -2,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "PM2,BP4_Strong",
      "acmg_by_gene": [
        {
          "score": -2,
          "benign_score": 4,
          "pathogenic_score": 2,
          "criteria": [
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            "BP4_Strong"
          ],
          "verdict": "Likely_benign",
          "transcript": "NM_005914.4",
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          "effects": [
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          "inheritance_mode": "AR",
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          "hgvs_p": "p.Leu650Leu"
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      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}