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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: 9-677020-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=677020&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "9",
      "pos": 677020,
      "ref": "G",
      "alt": "A",
      "effect": "intron_variant",
      "transcript": "NM_015158.5",
      "consequences": [
        {
          "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": 12,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "KANK1",
          "gene_hgnc_id": 19309,
          "hgvs_c": "c.37+11G>A",
          "hgvs_p": null,
          "transcript": "NM_015158.5",
          "protein_id": "NP_055973.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1352,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4059,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5070,
          "mane_select": "ENST00000382297.7",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "KANK1",
          "gene_hgnc_id": 19309,
          "hgvs_c": "c.37+11G>A",
          "hgvs_p": null,
          "transcript": "ENST00000382297.7",
          "protein_id": "ENSP00000371734.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1352,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4059,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5070,
          "mane_select": "NM_015158.5",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 16,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "KANK1",
          "gene_hgnc_id": 19309,
          "hgvs_c": "c.37+11G>A",
          "hgvs_p": null,
          "transcript": "ENST00000382303.5",
          "protein_id": "ENSP00000371740.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1352,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4059,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5581,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 1,
          "intron_rank_end": null,
          "gene_symbol": "KANK1",
          "gene_hgnc_id": 19309,
          "hgvs_c": "c.37+11G>A",
          "hgvs_p": null,
          "transcript": "ENST00000382289.7",
          "protein_id": "ENSP00000371726.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 465,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1398,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2315,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KANK1",
          "gene_hgnc_id": 19309,
          "hgvs_c": "c.-460G>A",
          "hgvs_p": null,
          "transcript": "NM_001354333.2",
          "protein_id": "NP_001341262.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1194,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3585,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5103,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 13,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "KANK1",
          "gene_hgnc_id": 19309,
          "hgvs_c": "c.37+11G>A",
          "hgvs_p": null,
          "transcript": "ENST00000619269.5",
          "protein_id": "ENSP00000477725.2",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1375,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4128,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5131,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 16,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "KANK1",
          "gene_hgnc_id": 19309,
          "hgvs_c": "c.37+11G>A",
          "hgvs_p": null,
          "transcript": "NM_001256876.3",
          "protein_id": "NP_001243805.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1352,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4059,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5575,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 13,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "KANK1",
          "gene_hgnc_id": 19309,
          "hgvs_c": "c.37+11G>A",
          "hgvs_p": null,
          "transcript": "NM_001256877.3",
          "protein_id": "NP_001243806.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1352,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4059,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5685,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 13,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "KANK1",
          "gene_hgnc_id": 19309,
          "hgvs_c": "c.37+11G>A",
          "hgvs_p": null,
          "transcript": "NM_001354334.2",
          "protein_id": "NP_001341263.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1352,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4059,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5230,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 13,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "KANK1",
          "gene_hgnc_id": 19309,
          "hgvs_c": "c.37+11G>A",
          "hgvs_p": null,
          "transcript": "NM_001438412.1",
          "protein_id": "NP_001425341.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1352,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4059,
          "cdna_start": null,
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          "cdna_length": 5184,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 14,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "KANK1",
          "gene_hgnc_id": 19309,
          "hgvs_c": "c.37+11G>A",
          "hgvs_p": null,
          "transcript": "ENST00000674102.1",
          "protein_id": "ENSP00000501167.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1352,
          "cds_start": -4,
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          "cds_length": 4059,
          "cdna_start": null,
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          "cdna_length": 5348,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 14,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "KANK1",
          "gene_hgnc_id": 19309,
          "hgvs_c": "c.37+11G>A",
          "hgvs_p": null,
          "transcript": "ENST00000685947.1",
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          "cdna_start": null,
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        },
        {
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          "strand": true,
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          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "KANK1",
          "gene_hgnc_id": 19309,
          "hgvs_c": "c.37+11G>A",
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          "transcript": "ENST00000689779.1",
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        {
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          "intron_rank": 2,
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          "gene_symbol": "KANK1",
          "gene_hgnc_id": 19309,
          "hgvs_c": "c.37+11G>A",
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          "transcript": "NM_001354332.2",
          "protein_id": "NP_001341261.1",
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          "aa_length": 1334,
          "cds_start": -4,
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          "mane_select": null,
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        },
        {
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          "gene_symbol": "KANK1",
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        {
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          "gene_symbol": "KANK1",
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          "hgvs_c": "c.37+11G>A",
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          "transcript": "ENST00000689926.1",
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          "exon_count": 11,
          "intron_rank": 2,
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          "gene_symbol": "KANK1",
          "gene_hgnc_id": 19309,
          "hgvs_c": "c.37+11G>A",
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          "transcript": "ENST00000691319.1",
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          "mane_select": null,
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        },
        {
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          "canonical": false,
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          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 4,
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          "intron_rank_end": null,
          "gene_symbol": "KANK1",
          "gene_hgnc_id": 19309,
          "hgvs_c": "n.172+11G>A",
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        {
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          "gene_symbol": "ENSG00000227914",
          "gene_hgnc_id": 58139,
          "hgvs_c": "n.219-2641C>T",
          "hgvs_p": null,
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        },
        {
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          "intron_rank_end": null,
          "gene_symbol": "KANK1",
          "gene_hgnc_id": 19309,
          "hgvs_c": "n.173+11G>A",
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          "cdna_length": 7193,
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          "biotype": null,
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        },
        {
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000227914",
          "gene_hgnc_id": 58139,
          "hgvs_c": "n.87+522C>T",
          "hgvs_p": null,
          "transcript": "ENST00000608097.1",
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