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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: 5-154793832-C-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=154793832&ref=C&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "5",
      "pos": 154793832,
      "ref": "C",
      "alt": "G",
      "effect": "missense_variant",
      "transcript": "NM_033551.3",
      "consequences": [
        {
          "aa_ref": "P",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LARP1",
          "gene_hgnc_id": 29531,
          "hgvs_c": "c.901C>G",
          "hgvs_p": "p.Pro301Ala",
          "transcript": "NM_033551.3",
          "protein_id": "NP_291029.2",
          "transcript_support_level": null,
          "aa_start": 301,
          "aa_end": null,
          "aa_length": 1096,
          "cds_start": 901,
          "cds_end": null,
          "cds_length": 3291,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000518297.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_033551.3"
        },
        {
          "aa_ref": "P",
          "aa_alt": "A",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LARP1",
          "gene_hgnc_id": 29531,
          "hgvs_c": "c.901C>G",
          "hgvs_p": "p.Pro301Ala",
          "transcript": "ENST00000518297.6",
          "protein_id": "ENSP00000428589.2",
          "transcript_support_level": 5,
          "aa_start": 301,
          "aa_end": null,
          "aa_length": 1096,
          "cds_start": 901,
          "cds_end": null,
          "cds_length": 3291,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_033551.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000518297.6"
        },
        {
          "aa_ref": "P",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LARP1",
          "gene_hgnc_id": 29531,
          "hgvs_c": "c.670C>G",
          "hgvs_p": "p.Pro224Ala",
          "transcript": "ENST00000336314.9",
          "protein_id": "ENSP00000336721.4",
          "transcript_support_level": 1,
          "aa_start": 224,
          "aa_end": null,
          "aa_length": 1019,
          "cds_start": 670,
          "cds_end": null,
          "cds_length": 3060,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000336314.9"
        },
        {
          "aa_ref": "P",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LARP1",
          "gene_hgnc_id": 29531,
          "hgvs_c": "c.901C>G",
          "hgvs_p": "p.Pro301Ala",
          "transcript": "ENST00000913421.1",
          "protein_id": "ENSP00000583480.1",
          "transcript_support_level": null,
          "aa_start": 301,
          "aa_end": null,
          "aa_length": 1095,
          "cds_start": 901,
          "cds_end": null,
          "cds_length": 3288,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000913421.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LARP1",
          "gene_hgnc_id": 29531,
          "hgvs_c": "c.901C>G",
          "hgvs_p": "p.Pro301Ala",
          "transcript": "ENST00000913419.1",
          "protein_id": "ENSP00000583478.1",
          "transcript_support_level": null,
          "aa_start": 301,
          "aa_end": null,
          "aa_length": 1080,
          "cds_start": 901,
          "cds_end": null,
          "cds_length": 3243,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000913419.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LARP1",
          "gene_hgnc_id": 29531,
          "hgvs_c": "c.901C>G",
          "hgvs_p": "p.Pro301Ala",
          "transcript": "ENST00000955841.1",
          "protein_id": "ENSP00000625900.1",
          "transcript_support_level": null,
          "aa_start": 301,
          "aa_end": null,
          "aa_length": 1066,
          "cds_start": 901,
          "cds_end": null,
          "cds_length": 3201,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000955841.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LARP1",
          "gene_hgnc_id": 29531,
          "hgvs_c": "c.901C>G",
          "hgvs_p": "p.Pro301Ala",
          "transcript": "NM_001367718.1",
          "protein_id": "NP_001354647.1",
          "transcript_support_level": null,
          "aa_start": 301,
          "aa_end": null,
          "aa_length": 1063,
          "cds_start": 901,
          "cds_end": null,
          "cds_length": 3192,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001367718.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LARP1",
          "gene_hgnc_id": 29531,
          "hgvs_c": "c.868C>G",
          "hgvs_p": "p.Pro290Ala",
          "transcript": "ENST00000913420.1",
          "protein_id": "ENSP00000583479.1",
          "transcript_support_level": null,
          "aa_start": 290,
          "aa_end": null,
          "aa_length": 1052,
          "cds_start": 868,
          "cds_end": null,
          "cds_length": 3159,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000913420.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LARP1",
          "gene_hgnc_id": 29531,
          "hgvs_c": "c.670C>G",
          "hgvs_p": "p.Pro224Ala",
          "transcript": "NM_015315.6",
          "protein_id": "NP_056130.2",
          "transcript_support_level": null,
          "aa_start": 224,
          "aa_end": null,
          "aa_length": 1019,
          "cds_start": 670,
          "cds_end": null,
          "cds_length": 3060,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_015315.6"
        },
        {
          "aa_ref": "P",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LARP1",
          "gene_hgnc_id": 29531,
          "hgvs_c": "c.670C>G",
          "hgvs_p": "p.Pro224Ala",
          "transcript": "NM_001367717.1",
          "protein_id": "NP_001354646.1",
          "transcript_support_level": null,
          "aa_start": 224,
          "aa_end": null,
          "aa_length": 993,
          "cds_start": 670,
          "cds_end": null,
          "cds_length": 2982,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001367717.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LARP1",
          "gene_hgnc_id": 29531,
          "hgvs_c": "c.286C>G",
          "hgvs_p": "p.Pro96Ala",
          "transcript": "NM_001367713.1",
          "protein_id": "NP_001354642.1",
          "transcript_support_level": null,
          "aa_start": 96,
          "aa_end": null,
          "aa_length": 891,
          "cds_start": 286,
          "cds_end": null,
          "cds_length": 2676,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001367713.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LARP1",
          "gene_hgnc_id": 29531,
          "hgvs_c": "c.286C>G",
          "hgvs_p": "p.Pro96Ala",
          "transcript": "NM_001367714.1",
          "protein_id": "NP_001354643.1",
          "transcript_support_level": null,
          "aa_start": 96,
          "aa_end": null,
          "aa_length": 891,
          "cds_start": 286,
          "cds_end": null,
          "cds_length": 2676,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001367714.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LARP1",
          "gene_hgnc_id": 29531,
          "hgvs_c": "c.286C>G",
          "hgvs_p": "p.Pro96Ala",
          "transcript": "NM_001367719.1",
          "protein_id": "NP_001354648.1",
          "transcript_support_level": null,
          "aa_start": 96,
          "aa_end": null,
          "aa_length": 891,
          "cds_start": 286,
          "cds_end": null,
          "cds_length": 2676,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001367719.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LARP1",
          "gene_hgnc_id": 29531,
          "hgvs_c": "c.286C>G",
          "hgvs_p": "p.Pro96Ala",
          "transcript": "ENST00000685946.1",
          "protein_id": "ENSP00000509794.1",
          "transcript_support_level": null,
          "aa_start": 96,
          "aa_end": null,
          "aa_length": 891,
          "cds_start": 286,
          "cds_end": null,
          "cds_length": 2676,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000685946.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LARP1",
          "gene_hgnc_id": 29531,
          "hgvs_c": "c.286C>G",
          "hgvs_p": "p.Pro96Ala",
          "transcript": "ENST00000690816.1",
          "protein_id": "ENSP00000508743.1",
          "transcript_support_level": null,
          "aa_start": 96,
          "aa_end": null,
          "aa_length": 891,
          "cds_start": 286,
          "cds_end": null,
          "cds_length": 2676,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000690816.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LARP1",
          "gene_hgnc_id": 29531,
          "hgvs_c": "c.286C>G",
          "hgvs_p": "p.Pro96Ala",
          "transcript": "NM_001367716.1",
          "protein_id": "NP_001354645.1",
          "transcript_support_level": null,
          "aa_start": 96,
          "aa_end": null,
          "aa_length": 858,
          "cds_start": 286,
          "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": "NM_001367716.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LARP1",
          "gene_hgnc_id": 29531,
          "hgvs_c": "c.286C>G",
          "hgvs_p": "p.Pro96Ala",
          "transcript": "ENST00000687700.1",
          "protein_id": "ENSP00000508958.1",
          "transcript_support_level": null,
          "aa_start": 96,
          "aa_end": null,
          "aa_length": 858,
          "cds_start": 286,
          "cds_end": null,
          "cds_length": 2577,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000687700.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LARP1",
          "gene_hgnc_id": 29531,
          "hgvs_c": "c.286C>G",
          "hgvs_p": "p.Pro96Ala",
          "transcript": "ENST00000524248.5",
          "protein_id": "ENSP00000429904.1",
          "transcript_support_level": 5,
          "aa_start": 96,
          "aa_end": null,
          "aa_length": 609,
          "cds_start": 286,
          "cds_end": null,
          "cds_length": 1832,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000524248.5"
        },
        {
          "aa_ref": "P",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LARP1",
          "gene_hgnc_id": 29531,
          "hgvs_c": "c.184C>G",
          "hgvs_p": "p.Pro62Ala",
          "transcript": "ENST00000518194.1",
          "protein_id": "ENSP00000427731.1",
          "transcript_support_level": 5,
          "aa_start": 62,
          "aa_end": null,
          "aa_length": 148,
          "cds_start": 184,
          "cds_end": null,
          "cds_length": 449,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000518194.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "LARP1",
          "gene_hgnc_id": 29531,
          "hgvs_c": "c.901C>G",
          "hgvs_p": "p.Pro301Ala",
          "transcript": "XM_011537614.2",
          "protein_id": "XP_011535916.1",
          "transcript_support_level": null,
          "aa_start": 301,
          "aa_end": null,
          "aa_length": 1070,
          "cds_start": 901,
          "cds_end": null,
          "cds_length": 3213,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_011537614.2"
        },
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}