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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: 5-167783467-A-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=167783467&ref=A&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "5",
      "pos": 167783467,
      "ref": "A",
      "alt": "T",
      "effect": "intron_variant",
      "transcript": "ENST00000518659.6",
      "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": 31,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "TENM2",
          "gene_hgnc_id": 29943,
          "hgvs_c": "c.503-92519A>T",
          "hgvs_p": null,
          "transcript": "NM_001395460.1",
          "protein_id": "NP_001382389.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2774,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 8325,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 10356,
          "mane_select": "ENST00000518659.6",
          "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": 31,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "TENM2",
          "gene_hgnc_id": 29943,
          "hgvs_c": "c.503-92519A>T",
          "hgvs_p": null,
          "transcript": "ENST00000518659.6",
          "protein_id": "ENSP00000429430.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2774,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 8325,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 10356,
          "mane_select": "NM_001395460.1",
          "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": 25,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "TENM2",
          "gene_hgnc_id": 29943,
          "hgvs_c": "c.139+28275A>T",
          "hgvs_p": null,
          "transcript": "ENST00000520394.5",
          "protein_id": "ENSP00000427874.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2535,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 7608,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8034,
          "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": 30,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "TENM2",
          "gene_hgnc_id": 29943,
          "hgvs_c": "c.503-92519A>T",
          "hgvs_p": null,
          "transcript": "NM_001122679.2",
          "protein_id": "NP_001116151.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2765,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 8298,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 9834,
          "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": 28,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "TENM2",
          "gene_hgnc_id": 29943,
          "hgvs_c": "c.139+28275A>T",
          "hgvs_p": null,
          "transcript": "ENST00000519204.5",
          "protein_id": "ENSP00000428964.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2653,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 7962,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 9427,
          "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": 27,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "TENM2",
          "gene_hgnc_id": 29943,
          "hgvs_c": "c.47-92519A>T",
          "hgvs_p": null,
          "transcript": "NM_001368145.1",
          "protein_id": "NP_001355074.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2615,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 7848,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 9517,
          "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": 28,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "TENM2",
          "gene_hgnc_id": 29943,
          "hgvs_c": "c.47-92519A>T",
          "hgvs_p": null,
          "transcript": "NM_001368146.1",
          "protein_id": "NP_001355075.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2613,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 7842,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 9511,
          "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": 28,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "TENM2",
          "gene_hgnc_id": 29943,
          "hgvs_c": "c.47-92519A>T",
          "hgvs_p": null,
          "transcript": "ENST00000695886.1",
          "protein_id": "ENSP00000512239.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2613,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 7842,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 9500,
          "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": 25,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "TENM2",
          "gene_hgnc_id": 29943,
          "hgvs_c": "c.139+28275A>T",
          "hgvs_p": null,
          "transcript": "NM_001080428.3",
          "protein_id": "NP_001073897.2",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 2535,
          "cds_start": -4,
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          "cdna_start": null,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
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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": 28,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "TENM2",
          "gene_hgnc_id": 29943,
          "hgvs_c": "n.47-92519A>T",
          "hgvs_p": null,
          "transcript": "ENST00000695885.1",
          "protein_id": "ENSP00000512238.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "mane_select": null,
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        {
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          "exon_rank": null,
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          "exon_count": 7,
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          "gene_symbol": "TENM2",
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          "transcript": "ENST00000695887.1",
          "protein_id": null,
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          "cds_start": -4,
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          "mane_select": null,
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        {
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          "canonical": false,
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          "gene_symbol": "TENM2",
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          "intron_rank": 1,
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          "gene_symbol": "TENM2",
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      "clinvar_classification": "",
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}