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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: 11-61430154-T-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=61430154&ref=T&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "11",
      "pos": 61430154,
      "ref": "T",
      "alt": "A",
      "effect": "missense_variant",
      "transcript": "NM_017841.4",
      "consequences": [
        {
          "aa_ref": "V",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SDHAF2",
          "gene_hgnc_id": 26034,
          "hgvs_c": "c.8T>A",
          "hgvs_p": "p.Val3Glu",
          "transcript": "NM_017841.4",
          "protein_id": "NP_060311.1",
          "transcript_support_level": null,
          "aa_start": 3,
          "aa_end": null,
          "aa_length": 166,
          "cds_start": 8,
          "cds_end": null,
          "cds_length": 501,
          "cdna_start": 31,
          "cdna_end": null,
          "cdna_length": 1186,
          "mane_select": "ENST00000301761.7",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "E",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SDHAF2",
          "gene_hgnc_id": 26034,
          "hgvs_c": "c.8T>A",
          "hgvs_p": "p.Val3Glu",
          "transcript": "ENST00000301761.7",
          "protein_id": "ENSP00000301761.3",
          "transcript_support_level": 1,
          "aa_start": 3,
          "aa_end": null,
          "aa_length": 166,
          "cds_start": 8,
          "cds_end": null,
          "cds_length": 501,
          "cdna_start": 31,
          "cdna_end": null,
          "cdna_length": 1186,
          "mane_select": "NM_017841.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "E",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000256591",
          "gene_hgnc_id": null,
          "hgvs_c": "c.8T>A",
          "hgvs_p": "p.Val3Glu",
          "transcript": "ENST00000541135.5",
          "protein_id": "ENSP00000443130.1",
          "transcript_support_level": 4,
          "aa_start": 3,
          "aa_end": null,
          "aa_length": 162,
          "cds_start": 8,
          "cds_end": null,
          "cds_length": 489,
          "cdna_start": 99,
          "cdna_end": null,
          "cdna_length": 580,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SDHAF2",
          "gene_hgnc_id": 26034,
          "hgvs_c": "c.8T>A",
          "hgvs_p": "p.Val3Glu",
          "transcript": "ENST00000713963.1",
          "protein_id": "ENSP00000519256.1",
          "transcript_support_level": null,
          "aa_start": 3,
          "aa_end": null,
          "aa_length": 197,
          "cds_start": 8,
          "cds_end": null,
          "cds_length": 594,
          "cdna_start": 31,
          "cdna_end": null,
          "cdna_length": 1385,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SDHAF2",
          "gene_hgnc_id": 26034,
          "hgvs_c": "c.8T>A",
          "hgvs_p": "p.Val3Glu",
          "transcript": "ENST00000713960.1",
          "protein_id": "ENSP00000519253.1",
          "transcript_support_level": null,
          "aa_start": 3,
          "aa_end": null,
          "aa_length": 155,
          "cds_start": 8,
          "cds_end": null,
          "cds_length": 468,
          "cdna_start": 90,
          "cdna_end": null,
          "cdna_length": 1219,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SDHAF2",
          "gene_hgnc_id": 26034,
          "hgvs_c": "c.8T>A",
          "hgvs_p": "p.Val3Glu",
          "transcript": "ENST00000537782.5",
          "protein_id": "ENSP00000469951.1",
          "transcript_support_level": 4,
          "aa_start": 3,
          "aa_end": null,
          "aa_length": 133,
          "cds_start": 8,
          "cds_end": null,
          "cds_length": 402,
          "cdna_start": 30,
          "cdna_end": null,
          "cdna_length": 559,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SDHAF2",
          "gene_hgnc_id": 26034,
          "hgvs_c": "c.8T>A",
          "hgvs_p": "p.Val3Glu",
          "transcript": "ENST00000543265.1",
          "protein_id": "ENSP00000443660.1",
          "transcript_support_level": 5,
          "aa_start": 3,
          "aa_end": null,
          "aa_length": 88,
          "cds_start": 8,
          "cds_end": null,
          "cds_length": 267,
          "cdna_start": 11,
          "cdna_end": null,
          "cdna_length": 438,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "V",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SDHAF2",
          "gene_hgnc_id": 26034,
          "hgvs_c": "c.8T>A",
          "hgvs_p": "p.Val3Glu",
          "transcript": "ENST00000542074.1",
          "protein_id": "ENSP00000469670.1",
          "transcript_support_level": 2,
          "aa_start": 3,
          "aa_end": null,
          "aa_length": 28,
          "cds_start": 8,
          "cds_end": null,
          "cds_length": 87,
          "cdna_start": 50,
          "cdna_end": null,
          "cdna_length": 835,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SDHAF2",
          "gene_hgnc_id": 26034,
          "hgvs_c": "n.8T>A",
          "hgvs_p": null,
          "transcript": "ENST00000359614.9",
          "protein_id": "ENSP00000352630.5",
          "transcript_support_level": 3,
          "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": 555,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SDHAF2",
          "gene_hgnc_id": 26034,
          "hgvs_c": "n.31T>A",
          "hgvs_p": null,
          "transcript": "ENST00000534878.6",
          "protein_id": null,
          "transcript_support_level": 2,
          "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": 523,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SDHAF2",
          "gene_hgnc_id": 26034,
          "hgvs_c": "n.8T>A",
          "hgvs_p": null,
          "transcript": "ENST00000536250.1",
          "protein_id": "ENSP00000471120.1",
          "transcript_support_level": 3,
          "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": 659,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000256591",
          "gene_hgnc_id": null,
          "hgvs_c": "n.34T>A",
          "hgvs_p": null,
          "transcript": "ENST00000536670.5",
          "protein_id": null,
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
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          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 449,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000256591",
          "gene_hgnc_id": null,
          "hgvs_c": "n.8T>A",
          "hgvs_p": null,
          "transcript": "ENST00000538594.5",
          "protein_id": "ENSP00000440939.1",
          "transcript_support_level": 4,
          "aa_start": null,
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          "aa_length": null,
          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 569,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SDHAF2",
          "gene_hgnc_id": 26034,
          "hgvs_c": "n.8T>A",
          "hgvs_p": null,
          "transcript": "ENST00000542794.5",
          "protein_id": "ENSP00000439983.1",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
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          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1077,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
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          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000256591",
          "gene_hgnc_id": null,
          "hgvs_c": "n.-29T>A",
          "hgvs_p": null,
          "transcript": "ENST00000543044.2",
          "protein_id": "ENSP00000440219.1",
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          "mane_select": null,
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          "biotype": null,
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        },
        {
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000256591",
          "gene_hgnc_id": null,
          "hgvs_c": "n.8T>A",
          "hgvs_p": null,
          "transcript": "ENST00000544801.5",
          "protein_id": "ENSP00000442581.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
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          "cdna_end": null,
          "cdna_length": 875,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000256591",
          "gene_hgnc_id": null,
          "hgvs_c": "n.12T>A",
          "hgvs_p": null,
          "transcript": "ENST00000544880.1",
          "protein_id": null,
          "transcript_support_level": 4,
          "aa_start": null,
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          "cdna_start": null,
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          "cdna_length": 591,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 1,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000256591",
          "gene_hgnc_id": null,
          "hgvs_c": "n.31T>A",
          "hgvs_p": null,
          "transcript": "ENST00000623232.1",
          "protein_id": null,
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          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SDHAF2",
          "gene_hgnc_id": 26034,
          "hgvs_c": "n.8T>A",
          "hgvs_p": null,
          "transcript": "ENST00000713961.1",
          "protein_id": "ENSP00000519254.1",
          "transcript_support_level": null,
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SDHAF2",
          "gene_hgnc_id": 26034,
          "hgvs_c": "n.8T>A",
          "hgvs_p": null,
          "transcript": "ENST00000713962.1",
          "protein_id": "ENSP00000519255.1",
          "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": 1573,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SDHAF2",
          "gene_hgnc_id": 26034,
          "hgvs_c": "n.8T>A",
          "hgvs_p": null,
          "transcript": "ENST00000713965.1",
          "protein_id": "ENSP00000519258.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "transcript": "XM_047427623.1",
          "protein_id": "XP_047283579.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 395,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1188,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3286,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "upstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CPSF7",
          "gene_hgnc_id": 30098,
          "hgvs_c": "c.-323A>T",
          "hgvs_p": null,
          "transcript": "XM_047427624.1",
          "protein_id": "XP_047283580.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 395,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1188,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3313,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "SDHAF2",
      "gene_hgnc_id": 26034,
      "dbsnp": "rs760006057",
      "frequency_reference_population": null,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 0,
      "gnomad_exomes_af": null,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": null,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": null,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.09411865472793579,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.128,
      "revel_prediction": "Benign",
      "alphamissense_score": 0.1665,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.32,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -0.097,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
      "dbscsnv_ada_score": null,
      "dbscsnv_ada_prediction": null,
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": 0,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PM2,BP4_Moderate",
      "acmg_by_gene": [
        {
          "score": 0,
          "benign_score": 2,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Moderate"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "NM_017841.4",
          "gene_symbol": "SDHAF2",
          "hgnc_id": 26034,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.8T>A",
          "hgvs_p": "p.Val3Glu"
        },
        {
          "score": 0,
          "benign_score": 2,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Moderate"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "ENST00000541135.5",
          "gene_symbol": "ENSG00000256591",
          "hgnc_id": null,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "c.8T>A",
          "hgvs_p": "p.Val3Glu"
        },
        {
          "score": 0,
          "benign_score": 2,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Moderate"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "NM_001142565.3",
          "gene_symbol": "CPSF7",
          "hgnc_id": 30098,
          "effects": [
            "upstream_gene_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.-296A>T",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}