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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: 6-136484644-C-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=136484644&ref=C&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "6",
      "pos": 136484644,
      "ref": "C",
      "alt": "A",
      "effect": "intron_variant",
      "transcript": "NM_001198609.2",
      "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": 18,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "MAP7",
          "gene_hgnc_id": 6869,
          "hgvs_c": "c.68-62845G>T",
          "hgvs_p": null,
          "transcript": "NM_003980.6",
          "protein_id": "NP_003971.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 749,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2250,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000354570.8",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_003980.6"
        },
        {
          "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": 18,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "MAP7",
          "gene_hgnc_id": 6869,
          "hgvs_c": "c.68-62845G>T",
          "hgvs_p": null,
          "transcript": "ENST00000354570.8",
          "protein_id": "ENSP00000346581.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 749,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2250,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_003980.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000354570.8"
        },
        {
          "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": 1,
          "intron_rank_end": null,
          "gene_symbol": "MAP7",
          "gene_hgnc_id": 6869,
          "hgvs_c": "c.133+41188G>T",
          "hgvs_p": null,
          "transcript": "NM_001198609.2",
          "protein_id": "NP_001185538.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 779,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2340,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001198609.2"
        },
        {
          "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": 2,
          "intron_rank_end": null,
          "gene_symbol": "MAP7",
          "gene_hgnc_id": 6869,
          "hgvs_c": "c.133+41188G>T",
          "hgvs_p": null,
          "transcript": "NM_001388328.1",
          "protein_id": "NP_001375257.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 779,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2340,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001388328.1"
        },
        {
          "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": 2,
          "intron_rank_end": null,
          "gene_symbol": "MAP7",
          "gene_hgnc_id": 6869,
          "hgvs_c": "c.133+41188G>T",
          "hgvs_p": null,
          "transcript": "NM_001388329.1",
          "protein_id": "NP_001375258.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 779,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2340,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001388329.1"
        },
        {
          "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": 2,
          "intron_rank_end": null,
          "gene_symbol": "MAP7",
          "gene_hgnc_id": 6869,
          "hgvs_c": "c.133+41188G>T",
          "hgvs_p": null,
          "transcript": "NM_001388330.1",
          "protein_id": "NP_001375259.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 779,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2340,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001388330.1"
        },
        {
          "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": 1,
          "intron_rank_end": null,
          "gene_symbol": "MAP7",
          "gene_hgnc_id": 6869,
          "hgvs_c": "c.133+41188G>T",
          "hgvs_p": null,
          "transcript": "ENST00000617204.4",
          "protein_id": "ENSP00000482335.1",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 779,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2340,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000617204.4"
        },
        {
          "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": 1,
          "intron_rank_end": null,
          "gene_symbol": "MAP7",
          "gene_hgnc_id": 6869,
          "hgvs_c": "c.133+41188G>T",
          "hgvs_p": null,
          "transcript": "NM_001388331.1",
          "protein_id": "NP_001375260.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 778,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2337,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001388331.1"
        },
        {
          "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": 1,
          "intron_rank_end": null,
          "gene_symbol": "MAP7",
          "gene_hgnc_id": 6869,
          "hgvs_c": "c.68-62845G>T",
          "hgvs_p": null,
          "transcript": "ENST00000877105.1",
          "protein_id": "ENSP00000547164.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 778,
          "cds_start": null,
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          "cds_length": 2337,
          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000877105.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 18,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "MAP7",
          "gene_hgnc_id": 6869,
          "hgvs_c": "c.133+41188G>T",
          "hgvs_p": null,
          "transcript": "NM_001198608.3",
          "protein_id": "NP_001185537.1",
          "transcript_support_level": null,
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          "cds_start": null,
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          "cds_length": 2316,
          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
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        {
          "aa_ref": null,
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          "canonical": false,
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          "gene_symbol": "MAP7",
          "gene_hgnc_id": 6869,
          "hgvs_c": "c.133+41188G>T",
          "hgvs_p": null,
          "transcript": "NM_001198614.2",
          "protein_id": "NP_001185543.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 771,
          "cds_start": null,
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          "cdna_start": null,
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          "mane_select": null,
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        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          "gene_symbol": "MAP7",
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        {
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          "gene_symbol": "MAP7",
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        {
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          "gene_symbol": "MAP7",
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        {
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          "gene_symbol": "MAP7",
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      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
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      "pathogenicity_classification_combined": null,
      "custom_annotations": null
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}