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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: 3-196071387-T-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=196071387&ref=T&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "3",
      "pos": 196071387,
      "ref": "T",
      "alt": "A",
      "effect": "intron_variant",
      "transcript": "ENST00000360110.9",
      "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": 19,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "TFRC",
          "gene_hgnc_id": 11763,
          "hgvs_c": "c.687+9A>T",
          "hgvs_p": null,
          "transcript": "NM_001128148.3",
          "protein_id": "NP_001121620.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 760,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2283,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5012,
          "mane_select": "ENST00000360110.9",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 19,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "TFRC",
          "gene_hgnc_id": 11763,
          "hgvs_c": "c.687+9A>T",
          "hgvs_p": null,
          "transcript": "ENST00000360110.9",
          "protein_id": "ENSP00000353224.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 760,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2283,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5012,
          "mane_select": "NM_001128148.3",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 6,
          "intron_rank_end": null,
          "gene_symbol": "TFRC",
          "gene_hgnc_id": 11763,
          "hgvs_c": "c.687+9A>T",
          "hgvs_p": null,
          "transcript": "ENST00000392396.7",
          "protein_id": "ENSP00000376197.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 760,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2283,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5032,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 5,
          "intron_rank_end": null,
          "gene_symbol": "TFRC",
          "gene_hgnc_id": 11763,
          "hgvs_c": "c.444+9A>T",
          "hgvs_p": null,
          "transcript": "ENST00000420415.5",
          "protein_id": "ENSP00000390133.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 679,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2040,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4814,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TFRC",
          "gene_hgnc_id": 11763,
          "hgvs_c": "n.767A>T",
          "hgvs_p": null,
          "transcript": "ENST00000698284.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5285,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TFRC",
          "gene_hgnc_id": 11763,
          "hgvs_c": "n.804A>T",
          "hgvs_p": null,
          "transcript": "ENST00000698292.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6872,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 20,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "TFRC",
          "gene_hgnc_id": 11763,
          "hgvs_c": "c.687+9A>T",
          "hgvs_p": null,
          "transcript": "ENST00000698283.1",
          "protein_id": "ENSP00000513649.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 795,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2388,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5113,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 6,
          "intron_rank_end": null,
          "gene_symbol": "TFRC",
          "gene_hgnc_id": 11763,
          "hgvs_c": "c.687+9A>T",
          "hgvs_p": null,
          "transcript": "NM_003234.4",
          "protein_id": "NP_003225.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 760,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2283,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5224,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 6,
          "intron_rank_end": null,
          "gene_symbol": "TFRC",
          "gene_hgnc_id": 11763,
          "hgvs_c": "c.687+9A>T",
          "hgvs_p": null,
          "transcript": "ENST00000698280.1",
          "protein_id": "ENSP00000513646.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 760,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2283,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5400,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 6,
          "intron_rank_end": null,
          "gene_symbol": "TFRC",
          "gene_hgnc_id": 11763,
          "hgvs_c": "c.687+9A>T",
          "hgvs_p": null,
          "transcript": "ENST00000698291.1",
          "protein_id": "ENSP00000513654.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 760,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2283,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4991,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 6,
          "intron_rank_end": null,
          "gene_symbol": "TFRC",
          "gene_hgnc_id": 11763,
          "hgvs_c": "c.687+9A>T",
          "hgvs_p": null,
          "transcript": "ENST00000698290.1",
          "protein_id": "ENSP00000513653.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 686,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2061,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4786,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 5,
          "intron_rank_end": null,
          "gene_symbol": "TFRC",
          "gene_hgnc_id": 11763,
          "hgvs_c": "c.444+9A>T",
          "hgvs_p": null,
          "transcript": "NM_001313965.2",
          "protein_id": "NP_001300894.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 679,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2040,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4810,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 1,
          "intron_rank_end": null,
          "gene_symbol": "TFRC",
          "gene_hgnc_id": 11763,
          "hgvs_c": "c.25-1819A>T",
          "hgvs_p": null,
          "transcript": "ENST00000698294.1",
          "protein_id": "ENSP00000513655.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 539,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1620,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4249,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 4,
          "intron_rank_end": null,
          "gene_symbol": "TFRC",
          "gene_hgnc_id": 11763,
          "hgvs_c": "c.-160+9A>T",
          "hgvs_p": null,
          "transcript": "NM_001313966.2",
          "protein_id": "NP_001300895.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 478,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1437,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4614,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 4,
          "intron_rank_end": null,
          "gene_symbol": "TFRC",
          "gene_hgnc_id": 11763,
          "hgvs_c": "c.-160+9A>T",
          "hgvs_p": null,
          "transcript": "ENST00000698285.1",
          "protein_id": "ENSP00000513650.1",
          "transcript_support_level": null,
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          "aa_length": 478,
          "cds_start": -4,
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          "cdna_start": null,
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          "mane_select": null,
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          "feature": null
        },
        {
          "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": 4,
          "intron_rank_end": null,
          "gene_symbol": "TFRC",
          "gene_hgnc_id": 11763,
          "hgvs_c": "c.-160+9A>T",
          "hgvs_p": null,
          "transcript": "ENST00000698286.1",
          "protein_id": "ENSP00000513651.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 478,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1437,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4822,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 3,
          "intron_rank_end": null,
          "gene_symbol": "TFRC",
          "gene_hgnc_id": 11763,
          "hgvs_c": "c.-160+616A>T",
          "hgvs_p": null,
          "transcript": "ENST00000698295.1",
          "protein_id": "ENSP00000513656.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 411,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1236,
          "cdna_start": null,
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          "cdna_length": 2322,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "TFRC",
          "gene_hgnc_id": 11763,
          "hgvs_c": "n.758+9A>T",
          "hgvs_p": null,
          "transcript": "ENST00000426789.6",
          "protein_id": null,
          "transcript_support_level": 3,
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          "cdna_start": null,
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          "cdna_length": 2723,
          "mane_select": null,
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          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "TFRC",
          "gene_hgnc_id": 11763,
          "hgvs_c": "n.758+9A>T",
          "hgvs_p": null,
          "transcript": "ENST00000475593.6",
          "protein_id": null,
          "transcript_support_level": 3,
          "aa_start": null,
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          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 6585,
          "mane_select": null,
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        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "TFRC",
          "gene_hgnc_id": 11763,
          "hgvs_c": "n.758+9A>T",
          "hgvs_p": null,
          "transcript": "ENST00000477148.2",
          "protein_id": null,
          "transcript_support_level": 4,
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          "cds_start": -4,
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          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6377,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "TFRC",
          "gene_hgnc_id": 11763,
          "hgvs_c": "n.687+9A>T",
          "hgvs_p": null,
          "transcript": "ENST00000698274.1",
          "protein_id": "ENSP00000513645.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
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          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3569,
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      "gene_symbol": "TFRC",
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      "computational_score_selected": -0.7799999713897705,
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      "computational_source_selected": "BayesDel_noAF",
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      "splice_prediction_selected": "Benign",
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      "bayesdelnoaf_score": -0.78,
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      "acmg_score": -2,
      "acmg_classification": "Likely_benign",
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      "acmg_by_gene": [
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          "pathogenic_score": 2,
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          "verdict": "Likely_benign",
          "transcript": "ENST00000360110.9",
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      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}