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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: 14-69769024-G-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=69769024&ref=G&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "14",
      "pos": 69769024,
      "ref": "G",
      "alt": "C",
      "effect": "intron_variant",
      "transcript": "NM_006925.5",
      "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": 8,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "SRSF5",
          "gene_hgnc_id": 10787,
          "hgvs_c": "c.296+128G>C",
          "hgvs_p": null,
          "transcript": "NM_001320214.2",
          "protein_id": "NP_001307143.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 272,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 819,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1496,
          "mane_select": "ENST00000557154.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001320214.2"
        },
        {
          "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": 8,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "SRSF5",
          "gene_hgnc_id": 10787,
          "hgvs_c": "c.296+128G>C",
          "hgvs_p": null,
          "transcript": "ENST00000557154.6",
          "protein_id": "ENSP00000451088.1",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 272,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 819,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1496,
          "mane_select": "NM_001320214.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000557154.6"
        },
        {
          "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": 8,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "SRSF5",
          "gene_hgnc_id": 10787,
          "hgvs_c": "c.296+128G>C",
          "hgvs_p": null,
          "transcript": "ENST00000394366.6",
          "protein_id": "ENSP00000377892.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 272,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 819,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1638,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000394366.6"
        },
        {
          "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": 9,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "SRSF5",
          "gene_hgnc_id": 10787,
          "hgvs_c": "c.296+128G>C",
          "hgvs_p": null,
          "transcript": "ENST00000553521.5",
          "protein_id": "ENSP00000452123.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 272,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 819,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2815,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000553521.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SRSF5",
          "gene_hgnc_id": 10787,
          "hgvs_c": "n.606G>C",
          "hgvs_p": null,
          "transcript": "ENST00000554465.5",
          "protein_id": null,
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3044,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "retained_intron",
          "feature": "ENST00000554465.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SRSF5",
          "gene_hgnc_id": 10787,
          "hgvs_c": "n.642G>C",
          "hgvs_p": null,
          "transcript": "ENST00000556587.5",
          "protein_id": null,
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1863,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "ENST00000556587.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "SRSF5",
          "gene_hgnc_id": 10787,
          "hgvs_c": "n.524+128G>C",
          "hgvs_p": null,
          "transcript": "ENST00000556184.5",
          "protein_id": null,
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2443,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "retained_intron",
          "feature": "ENST00000556184.5"
        },
        {
          "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": 9,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "SRSF5",
          "gene_hgnc_id": 10787,
          "hgvs_c": "c.296+128G>C",
          "hgvs_p": null,
          "transcript": "ENST00000921631.1",
          "protein_id": "ENSP00000591690.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 279,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 840,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1643,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000921631.1"
        },
        {
          "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": 9,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "SRSF5",
          "gene_hgnc_id": 10787,
          "hgvs_c": "c.296+128G>C",
          "hgvs_p": null,
          "transcript": "ENST00000921632.1",
          "protein_id": "ENSP00000591691.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 279,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 840,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1517,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000921632.1"
        },
        {
          "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": 9,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "SRSF5",
          "gene_hgnc_id": 10787,
          "hgvs_c": "c.296+128G>C",
          "hgvs_p": null,
          "transcript": "ENST00000921636.1",
          "protein_id": "ENSP00000591695.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 279,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 840,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1510,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000921636.1"
        },
        {
          "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": 8,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "SRSF5",
          "gene_hgnc_id": 10787,
          "hgvs_c": "c.296+128G>C",
          "hgvs_p": null,
          "transcript": "NM_001039465.2",
          "protein_id": "NP_001034554.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 272,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 819,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1621,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001039465.2"
        },
        {
          "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": 8,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "SRSF5",
          "gene_hgnc_id": 10787,
          "hgvs_c": "c.296+128G>C",
          "hgvs_p": null,
          "transcript": "NM_006925.5",
          "protein_id": "NP_008856.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 272,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 819,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1492,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_006925.5"
        },
        {
          "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": 8,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "SRSF5",
          "gene_hgnc_id": 10787,
          "hgvs_c": "c.296+128G>C",
          "hgvs_p": null,
          "transcript": "ENST00000880758.1",
          "protein_id": "ENSP00000550817.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 272,
          "cds_start": null,
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          "cds_length": 819,
          "cdna_start": null,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000880758.1"
        },
        {
          "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": 8,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "SRSF5",
          "gene_hgnc_id": 10787,
          "hgvs_c": "c.296+128G>C",
          "hgvs_p": null,
          "transcript": "ENST00000880760.1",
          "protein_id": "ENSP00000550819.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 272,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 819,
          "cdna_start": null,
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          "cdna_length": 1491,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000880760.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
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          "consequences": [
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          ],
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          "intron_rank": 4,
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          "gene_symbol": "SRSF5",
          "gene_hgnc_id": 10787,
          "hgvs_c": "c.296+128G>C",
          "hgvs_p": null,
          "transcript": "ENST00000880766.1",
          "protein_id": "ENSP00000550825.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 272,
          "cds_start": null,
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          "cdna_start": null,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000880766.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "SRSF5",
          "gene_hgnc_id": 10787,
          "hgvs_c": "c.296+128G>C",
          "hgvs_p": null,
          "transcript": "ENST00000880767.1",
          "protein_id": "ENSP00000550826.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 272,
          "cds_start": null,
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          "cdna_start": null,
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          "cdna_length": 1498,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000880767.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 8,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "SRSF5",
          "gene_hgnc_id": 10787,
          "hgvs_c": "c.296+128G>C",
          "hgvs_p": null,
          "transcript": "ENST00000921622.1",
          "protein_id": "ENSP00000591681.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 272,
          "cds_start": null,
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          "cds_length": 819,
          "cdna_start": null,
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          "cdna_length": 1567,
          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
          "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": 8,
          "intron_rank": 4,
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          "gene_symbol": "SRSF5",
          "gene_hgnc_id": 10787,
          "hgvs_c": "c.296+128G>C",
          "hgvs_p": null,
          "transcript": "ENST00000921626.1",
          "protein_id": "ENSP00000591685.1",
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          "cds_start": null,
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          "cdna_start": null,
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          "cdna_length": 1524,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000921626.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 8,
          "intron_rank": 4,
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          "gene_symbol": "SRSF5",
          "gene_hgnc_id": 10787,
          "hgvs_c": "c.296+128G>C",
          "hgvs_p": null,
          "transcript": "ENST00000921637.1",
          "protein_id": "ENSP00000591696.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": null,
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          "cdna_start": null,
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          "cdna_length": 1536,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000921637.1"
        },
        {
          "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": 7,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "SRSF5",
          "gene_hgnc_id": 10787,
          "hgvs_c": "c.296+128G>C",
          "hgvs_p": null,
          "transcript": "ENST00000921640.1",
          "protein_id": "ENSP00000591698.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 272,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 819,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1754,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000921640.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
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For research and educational, non-commercial use only. Not for clinical or diagnostic use. GeneBe does not provide medical advice. Data use for AI modeling is prohibited: if used, the cost is $0.001 per byte of downloaded uncompressed data.