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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: 10-45626139-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=45626139&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "10",
      "pos": 45626139,
      "ref": "C",
      "alt": "T",
      "effect": "missense_variant",
      "transcript": "NM_174890.4",
      "consequences": [
        {
          "aa_ref": "G",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZFAND4",
          "gene_hgnc_id": 23504,
          "hgvs_c": "c.1684G>A",
          "hgvs_p": "p.Gly562Ser",
          "transcript": "NM_174890.4",
          "protein_id": "NP_777550.2",
          "transcript_support_level": null,
          "aa_start": 562,
          "aa_end": null,
          "aa_length": 727,
          "cds_start": 1684,
          "cds_end": null,
          "cds_length": 2184,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000344646.10",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_174890.4"
        },
        {
          "aa_ref": "G",
          "aa_alt": "S",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZFAND4",
          "gene_hgnc_id": 23504,
          "hgvs_c": "c.1684G>A",
          "hgvs_p": "p.Gly562Ser",
          "transcript": "ENST00000344646.10",
          "protein_id": "ENSP00000339484.5",
          "transcript_support_level": 1,
          "aa_start": 562,
          "aa_end": null,
          "aa_length": 727,
          "cds_start": 1684,
          "cds_end": null,
          "cds_length": 2184,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_174890.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000344646.10"
        },
        {
          "aa_ref": "G",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZFAND4",
          "gene_hgnc_id": 23504,
          "hgvs_c": "c.1462G>A",
          "hgvs_p": "p.Gly488Ser",
          "transcript": "ENST00000374366.7",
          "protein_id": "ENSP00000363486.3",
          "transcript_support_level": 1,
          "aa_start": 488,
          "aa_end": null,
          "aa_length": 653,
          "cds_start": 1462,
          "cds_end": null,
          "cds_length": 1962,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000374366.7"
        },
        {
          "aa_ref": "G",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZFAND4",
          "gene_hgnc_id": 23504,
          "hgvs_c": "c.1702G>A",
          "hgvs_p": "p.Gly568Ser",
          "transcript": "ENST00000947494.1",
          "protein_id": "ENSP00000617553.1",
          "transcript_support_level": null,
          "aa_start": 568,
          "aa_end": null,
          "aa_length": 733,
          "cds_start": 1702,
          "cds_end": null,
          "cds_length": 2202,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000947494.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZFAND4",
          "gene_hgnc_id": 23504,
          "hgvs_c": "c.1684G>A",
          "hgvs_p": "p.Gly562Ser",
          "transcript": "NM_001128324.2",
          "protein_id": "NP_001121796.1",
          "transcript_support_level": null,
          "aa_start": 562,
          "aa_end": null,
          "aa_length": 727,
          "cds_start": 1684,
          "cds_end": null,
          "cds_length": 2184,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001128324.2"
        },
        {
          "aa_ref": "G",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZFAND4",
          "gene_hgnc_id": 23504,
          "hgvs_c": "c.1684G>A",
          "hgvs_p": "p.Gly562Ser",
          "transcript": "ENST00000907319.1",
          "protein_id": "ENSP00000577378.1",
          "transcript_support_level": null,
          "aa_start": 562,
          "aa_end": null,
          "aa_length": 727,
          "cds_start": 1684,
          "cds_end": null,
          "cds_length": 2184,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000907319.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZFAND4",
          "gene_hgnc_id": 23504,
          "hgvs_c": "c.1684G>A",
          "hgvs_p": "p.Gly562Ser",
          "transcript": "ENST00000907320.1",
          "protein_id": "ENSP00000577379.1",
          "transcript_support_level": null,
          "aa_start": 562,
          "aa_end": null,
          "aa_length": 727,
          "cds_start": 1684,
          "cds_end": null,
          "cds_length": 2184,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000907320.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZFAND4",
          "gene_hgnc_id": 23504,
          "hgvs_c": "c.1684G>A",
          "hgvs_p": "p.Gly562Ser",
          "transcript": "ENST00000907323.1",
          "protein_id": "ENSP00000577382.1",
          "transcript_support_level": null,
          "aa_start": 562,
          "aa_end": null,
          "aa_length": 727,
          "cds_start": 1684,
          "cds_end": null,
          "cds_length": 2184,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000907323.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZFAND4",
          "gene_hgnc_id": 23504,
          "hgvs_c": "c.1684G>A",
          "hgvs_p": "p.Gly562Ser",
          "transcript": "ENST00000940116.1",
          "protein_id": "ENSP00000610175.1",
          "transcript_support_level": null,
          "aa_start": 562,
          "aa_end": null,
          "aa_length": 727,
          "cds_start": 1684,
          "cds_end": null,
          "cds_length": 2184,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000940116.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZFAND4",
          "gene_hgnc_id": 23504,
          "hgvs_c": "c.1684G>A",
          "hgvs_p": "p.Gly562Ser",
          "transcript": "ENST00000940117.1",
          "protein_id": "ENSP00000610176.1",
          "transcript_support_level": null,
          "aa_start": 562,
          "aa_end": null,
          "aa_length": 727,
          "cds_start": 1684,
          "cds_end": null,
          "cds_length": 2184,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000940117.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZFAND4",
          "gene_hgnc_id": 23504,
          "hgvs_c": "c.1540G>A",
          "hgvs_p": "p.Gly514Ser",
          "transcript": "ENST00000907321.1",
          "protein_id": "ENSP00000577380.1",
          "transcript_support_level": null,
          "aa_start": 514,
          "aa_end": null,
          "aa_length": 679,
          "cds_start": 1540,
          "cds_end": null,
          "cds_length": 2040,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000907321.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZFAND4",
          "gene_hgnc_id": 23504,
          "hgvs_c": "c.1540G>A",
          "hgvs_p": "p.Gly514Ser",
          "transcript": "ENST00000907322.1",
          "protein_id": "ENSP00000577381.1",
          "transcript_support_level": null,
          "aa_start": 514,
          "aa_end": null,
          "aa_length": 679,
          "cds_start": 1540,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000907322.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
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          "gene_symbol": "ZFAND4",
          "gene_hgnc_id": 23504,
          "hgvs_c": "c.1540G>A",
          "hgvs_p": "p.Gly514Ser",
          "transcript": "ENST00000940115.1",
          "protein_id": "ENSP00000610174.1",
          "transcript_support_level": null,
          "aa_start": 514,
          "aa_end": null,
          "aa_length": 679,
          "cds_start": 1540,
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          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000940115.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZFAND4",
          "gene_hgnc_id": 23504,
          "hgvs_c": "c.1540G>A",
          "hgvs_p": "p.Gly514Ser",
          "transcript": "ENST00000940118.1",
          "protein_id": "ENSP00000610177.1",
          "transcript_support_level": null,
          "aa_start": 514,
          "aa_end": null,
          "aa_length": 679,
          "cds_start": 1540,
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        {
          "aa_ref": "G",
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          ],
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          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZFAND4",
          "gene_hgnc_id": 23504,
          "hgvs_c": "c.1540G>A",
          "hgvs_p": "p.Gly514Ser",
          "transcript": "ENST00000940119.1",
          "protein_id": "ENSP00000610178.1",
          "transcript_support_level": null,
          "aa_start": 514,
          "aa_end": null,
          "aa_length": 679,
          "cds_start": 1540,
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          "cds_length": 2040,
          "cdna_start": null,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000940119.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZFAND4",
          "gene_hgnc_id": 23504,
          "hgvs_c": "c.1462G>A",
          "hgvs_p": "p.Gly488Ser",
          "transcript": "NM_001282905.1",
          "protein_id": "NP_001269834.1",
          "transcript_support_level": null,
          "aa_start": 488,
          "aa_end": null,
          "aa_length": 653,
          "cds_start": 1462,
          "cds_end": null,
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          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "NM_001282905.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZFAND4",
          "gene_hgnc_id": 23504,
          "hgvs_c": "c.1462G>A",
          "hgvs_p": "p.Gly488Ser",
          "transcript": "NM_001282906.1",
          "protein_id": "NP_001269835.1",
          "transcript_support_level": null,
          "aa_start": 488,
          "aa_end": null,
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          "cdna_start": null,
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          "biotype": "protein_coding",
          "feature": "NM_001282906.1"
        },
        {
          "aa_ref": "G",
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          "protein_coding": true,
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          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
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          "gene_symbol": "ZFAND4",
          "gene_hgnc_id": 23504,
          "hgvs_c": "c.1870G>A",
          "hgvs_p": "p.Gly624Ser",
          "transcript": "XM_047426008.1",
          "protein_id": "XP_047281964.1",
          "transcript_support_level": null,
          "aa_start": 624,
          "aa_end": null,
          "aa_length": 789,
          "cds_start": 1870,
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          "cdna_start": null,
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          "biotype": "protein_coding",
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        },
        {
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          "protein_coding": true,
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          "consequences": [
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          ],
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          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZFAND4",
          "gene_hgnc_id": 23504,
          "hgvs_c": "c.1852G>A",
          "hgvs_p": "p.Gly618Ser",
          "transcript": "XM_047426009.1",
          "protein_id": "XP_047281965.1",
          "transcript_support_level": null,
          "aa_start": 618,
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          "cds_start": 1852,
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          "cds_length": 2352,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047426009.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ZFAND4",
          "gene_hgnc_id": 23504,
          "hgvs_c": "c.1726G>A",
          "hgvs_p": "p.Gly576Ser",
          "transcript": "XM_017016931.2",
          "protein_id": "XP_016872420.1",
          "transcript_support_level": null,
          "aa_start": 576,
          "aa_end": null,
          "aa_length": 741,
          "cds_start": 1726,
          "cds_end": null,
          "cds_length": 2226,
          "cdna_start": null,
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          ],
          "verdict": "Uncertain_significance",
          "transcript": "NM_174890.4",
          "gene_symbol": "ZFAND4",
          "hgnc_id": 23504,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.1684G>A",
          "hgvs_p": "p.Gly562Ser"
        }
      ],
      "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
}