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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: 7-29045828-A-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=29045828&ref=A&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "7",
      "pos": 29045828,
      "ref": "A",
      "alt": "G",
      "effect": "intron_variant",
      "transcript": "NM_001371264.1",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "CPVL",
          "gene_hgnc_id": 14399,
          "hgvs_c": "c.1138-15069T>C",
          "hgvs_p": null,
          "transcript": "NM_031311.5",
          "protein_id": "NP_112601.3",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 476,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1431,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000265394.10",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_031311.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "CPVL",
          "gene_hgnc_id": 14399,
          "hgvs_c": "c.1138-15069T>C",
          "hgvs_p": null,
          "transcript": "ENST00000265394.10",
          "protein_id": "ENSP00000265394.5",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 476,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1431,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_031311.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000265394.10"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "CPVL",
          "gene_hgnc_id": 14399,
          "hgvs_c": "c.1138-15069T>C",
          "hgvs_p": null,
          "transcript": "ENST00000396276.7",
          "protein_id": "ENSP00000379572.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 476,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1431,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000396276.7"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": 14,
          "intron_rank_end": null,
          "gene_symbol": "CPVL",
          "gene_hgnc_id": 14399,
          "hgvs_c": "c.1180-15069T>C",
          "hgvs_p": null,
          "transcript": "NM_001371264.1",
          "protein_id": "NP_001358193.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 490,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1473,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001371264.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": 13,
          "intron_rank_end": null,
          "gene_symbol": "CPVL",
          "gene_hgnc_id": 14399,
          "hgvs_c": "c.1138-15069T>C",
          "hgvs_p": null,
          "transcript": "NM_001348052.1",
          "protein_id": "NP_001334981.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 476,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1431,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001348052.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": 12,
          "intron_rank_end": null,
          "gene_symbol": "CPVL",
          "gene_hgnc_id": 14399,
          "hgvs_c": "c.1138-15069T>C",
          "hgvs_p": null,
          "transcript": "NM_001348054.1",
          "protein_id": "NP_001334983.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 476,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1431,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001348054.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": 17,
          "intron_rank_end": null,
          "gene_symbol": "CPVL",
          "gene_hgnc_id": 14399,
          "hgvs_c": "c.1138-15069T>C",
          "hgvs_p": null,
          "transcript": "NM_001371255.1",
          "protein_id": "NP_001358184.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 476,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1431,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001371255.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": 15,
          "intron_rank_end": null,
          "gene_symbol": "CPVL",
          "gene_hgnc_id": 14399,
          "hgvs_c": "c.1138-15069T>C",
          "hgvs_p": null,
          "transcript": "NM_001371256.1",
          "protein_id": "NP_001358185.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 476,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1431,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001371256.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": 16,
          "intron_rank_end": null,
          "gene_symbol": "CPVL",
          "gene_hgnc_id": 14399,
          "hgvs_c": "c.1138-15069T>C",
          "hgvs_p": null,
          "transcript": "NM_001371257.1",
          "protein_id": "NP_001358186.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 476,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1431,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001371257.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": 14,
          "intron_rank_end": null,
          "gene_symbol": "CPVL",
          "gene_hgnc_id": 14399,
          "hgvs_c": "c.1138-15069T>C",
          "hgvs_p": null,
          "transcript": "NM_001371258.1",
          "protein_id": "NP_001358187.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 476,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1431,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001371258.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": 15,
          "intron_rank_end": null,
          "gene_symbol": "CPVL",
          "gene_hgnc_id": 14399,
          "hgvs_c": "c.1138-15069T>C",
          "hgvs_p": null,
          "transcript": "NM_001371260.1",
          "protein_id": "NP_001358189.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 476,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1431,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001371260.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": 12,
          "intron_rank_end": null,
          "gene_symbol": "CPVL",
          "gene_hgnc_id": 14399,
          "hgvs_c": "c.1138-15069T>C",
          "hgvs_p": null,
          "transcript": "NM_001371261.1",
          "protein_id": "NP_001358190.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 476,
          "cds_start": null,
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          "cds_length": 1431,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001371261.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 14,
          "intron_rank": 12,
          "intron_rank_end": null,
          "gene_symbol": "CPVL",
          "gene_hgnc_id": 14399,
          "hgvs_c": "c.1138-15069T>C",
          "hgvs_p": null,
          "transcript": "NM_001371262.1",
          "protein_id": "NP_001358191.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 476,
          "cds_start": null,
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          "cds_length": 1431,
          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "NM_001371262.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": 14,
          "intron_rank_end": null,
          "gene_symbol": "CPVL",
          "gene_hgnc_id": 14399,
          "hgvs_c": "c.1138-15069T>C",
          "hgvs_p": null,
          "transcript": "NM_001371263.1",
          "protein_id": "NP_001358192.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 476,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1431,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "NM_001371263.1"
        },
        {
          "aa_ref": null,
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          ],
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          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "CPVL",
          "gene_hgnc_id": 14399,
          "hgvs_c": "c.1138-15069T>C",
          "hgvs_p": null,
          "transcript": "NM_019029.3",
          "protein_id": "NP_061902.2",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 476,
          "cds_start": null,
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          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "NM_019029.3"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": 15,
          "intron_rank_end": null,
          "gene_symbol": "CPVL",
          "gene_hgnc_id": 14399,
          "hgvs_c": "c.1138-15069T>C",
          "hgvs_p": null,
          "transcript": "ENST00000409850.5",
          "protein_id": "ENSP00000387164.1",
          "transcript_support_level": 2,
          "aa_start": null,
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          "aa_length": 476,
          "cds_start": null,
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          "cdna_start": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000409850.5"
        },
        {
          "aa_ref": null,
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          "canonical": false,
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          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 15,
          "intron_rank": 13,
          "intron_rank_end": null,
          "gene_symbol": "CPVL",
          "gene_hgnc_id": 14399,
          "hgvs_c": "c.1138-15069T>C",
          "hgvs_p": null,
          "transcript": "ENST00000886318.1",
          "protein_id": "ENSP00000556377.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 476,
          "cds_start": null,
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          "cdna_start": null,
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          "cdna_length": null,
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          "biotype": "protein_coding",
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        },
        {
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          "consequences": [
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          ],
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          "exon_count": 16,
          "intron_rank": 14,
          "intron_rank_end": null,
          "gene_symbol": "CPVL",
          "gene_hgnc_id": 14399,
          "hgvs_c": "c.1138-15069T>C",
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          "transcript": "ENST00000886319.1",
          "protein_id": "ENSP00000556378.1",
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": null,
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          "canonical": false,
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          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 13,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "CPVL",
          "gene_hgnc_id": 14399,
          "hgvs_c": "c.1138-15069T>C",
          "hgvs_p": null,
          "transcript": "ENST00000886320.1",
          "protein_id": "ENSP00000556379.1",
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000886320.1"
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "CPVL",
          "gene_hgnc_id": 14399,
          "hgvs_c": "c.1138-15069T>C",
          "hgvs_p": null,
          "transcript": "ENST00000886326.1",
          "protein_id": "ENSP00000556385.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 476,
          "cds_start": null,
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          "cds_length": 1431,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000886326.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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}