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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: 3-159764875-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=159764875&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "3",
      "pos": 159764875,
      "ref": "G",
      "alt": "A",
      "effect": "missense_variant",
      "transcript": "NM_001197113.2",
      "consequences": [
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SCHIP1",
          "gene_hgnc_id": 15678,
          "hgvs_c": "c.496G>A",
          "hgvs_p": "p.Val166Met",
          "transcript": "NM_014575.4",
          "protein_id": "NP_055390.1",
          "transcript_support_level": null,
          "aa_start": 166,
          "aa_end": null,
          "aa_length": 487,
          "cds_start": 496,
          "cds_end": null,
          "cds_length": 1464,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000638749.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_014575.4"
        },
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SCHIP1",
          "gene_hgnc_id": 15678,
          "hgvs_c": "c.496G>A",
          "hgvs_p": "p.Val166Met",
          "transcript": "ENST00000638749.2",
          "protein_id": "ENSP00000491030.1",
          "transcript_support_level": 1,
          "aa_start": 166,
          "aa_end": null,
          "aa_length": 487,
          "cds_start": 496,
          "cds_end": null,
          "cds_length": 1464,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_014575.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000638749.2"
        },
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IQCJ-SCHIP1",
          "gene_hgnc_id": 38842,
          "hgvs_c": "c.724G>A",
          "hgvs_p": "p.Val242Met",
          "transcript": "ENST00000485419.7",
          "protein_id": "ENSP00000420182.1",
          "transcript_support_level": 2,
          "aa_start": 242,
          "aa_end": null,
          "aa_length": 563,
          "cds_start": 724,
          "cds_end": null,
          "cds_length": 1692,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000485419.7"
        },
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SCHIP1",
          "gene_hgnc_id": 15678,
          "hgvs_c": "c.496G>A",
          "hgvs_p": "p.Val166Met",
          "transcript": "ENST00000412423.8",
          "protein_id": "ENSP00000400942.2",
          "transcript_support_level": 1,
          "aa_start": 166,
          "aa_end": null,
          "aa_length": 474,
          "cds_start": 496,
          "cds_end": null,
          "cds_length": 1425,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000412423.8"
        },
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SCHIP1",
          "gene_hgnc_id": 15678,
          "hgvs_c": "c.415G>A",
          "hgvs_p": "p.Val139Met",
          "transcript": "ENST00000460298.3",
          "protein_id": "ENSP00000417305.3",
          "transcript_support_level": 1,
          "aa_start": 139,
          "aa_end": null,
          "aa_length": 451,
          "cds_start": 415,
          "cds_end": null,
          "cds_length": 1356,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000460298.3"
        },
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IQCJ-SCHIP1",
          "gene_hgnc_id": 38842,
          "hgvs_c": "c.724G>A",
          "hgvs_p": "p.Val242Met",
          "transcript": "NM_001197113.2",
          "protein_id": "NP_001184042.1",
          "transcript_support_level": null,
          "aa_start": 242,
          "aa_end": null,
          "aa_length": 563,
          "cds_start": 724,
          "cds_end": null,
          "cds_length": 1692,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001197113.2"
        },
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IQCJ-SCHIP1",
          "gene_hgnc_id": 38842,
          "hgvs_c": "c.643G>A",
          "hgvs_p": "p.Val215Met",
          "transcript": "NM_001197114.2",
          "protein_id": "NP_001184043.1",
          "transcript_support_level": null,
          "aa_start": 215,
          "aa_end": null,
          "aa_length": 536,
          "cds_start": 643,
          "cds_end": null,
          "cds_length": 1611,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001197114.2"
        },
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IQCJ-SCHIP1",
          "gene_hgnc_id": 38842,
          "hgvs_c": "c.643G>A",
          "hgvs_p": "p.Val215Met",
          "transcript": "NM_001414414.1",
          "protein_id": "NP_001401343.1",
          "transcript_support_level": null,
          "aa_start": 215,
          "aa_end": null,
          "aa_length": 536,
          "cds_start": 643,
          "cds_end": null,
          "cds_length": 1611,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001414414.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "IQCJ-SCHIP1",
          "gene_hgnc_id": 38842,
          "hgvs_c": "c.643G>A",
          "hgvs_p": "p.Val215Met",
          "transcript": "ENST00000476809.7",
          "protein_id": "ENSP00000418692.1",
          "transcript_support_level": 5,
          "aa_start": 215,
          "aa_end": null,
          "aa_length": 536,
          "cds_start": 643,
          "cds_end": null,
          "cds_length": 1611,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000476809.7"
        },
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SCHIP1",
          "gene_hgnc_id": 15678,
          "hgvs_c": "c.487G>A",
          "hgvs_p": "p.Val163Met",
          "transcript": "NM_001414415.1",
          "protein_id": "NP_001401344.1",
          "transcript_support_level": null,
          "aa_start": 163,
          "aa_end": null,
          "aa_length": 484,
          "cds_start": 487,
          "cds_end": null,
          "cds_length": 1455,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001414415.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SCHIP1",
          "gene_hgnc_id": 15678,
          "hgvs_c": "c.496G>A",
          "hgvs_p": "p.Val166Met",
          "transcript": "NM_001197107.2",
          "protein_id": "NP_001184036.1",
          "transcript_support_level": null,
          "aa_start": 166,
          "aa_end": null,
          "aa_length": 474,
          "cds_start": 496,
          "cds_end": null,
          "cds_length": 1425,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001197107.2"
        },
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SCHIP1",
          "gene_hgnc_id": 15678,
          "hgvs_c": "c.442G>A",
          "hgvs_p": "p.Val148Met",
          "transcript": "NM_001414416.1",
          "protein_id": "NP_001401345.1",
          "transcript_support_level": null,
          "aa_start": 148,
          "aa_end": null,
          "aa_length": 469,
          "cds_start": 442,
          "cds_end": null,
          "cds_length": 1410,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001414416.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SCHIP1",
          "gene_hgnc_id": 15678,
          "hgvs_c": "c.436G>A",
          "hgvs_p": "p.Val146Met",
          "transcript": "NM_001414417.1",
          "protein_id": "NP_001401346.1",
          "transcript_support_level": null,
          "aa_start": 146,
          "aa_end": null,
          "aa_length": 467,
          "cds_start": 436,
          "cds_end": null,
          "cds_length": 1404,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001414417.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SCHIP1",
          "gene_hgnc_id": 15678,
          "hgvs_c": "c.415G>A",
          "hgvs_p": "p.Val139Met",
          "transcript": "NM_001394282.1",
          "protein_id": "NP_001381211.1",
          "transcript_support_level": null,
          "aa_start": 139,
          "aa_end": null,
          "aa_length": 460,
          "cds_start": 415,
          "cds_end": null,
          "cds_length": 1383,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001394282.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
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          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SCHIP1",
          "gene_hgnc_id": 15678,
          "hgvs_c": "c.415G>A",
          "hgvs_p": "p.Val139Met",
          "transcript": "NM_001394283.1",
          "protein_id": "NP_001381212.1",
          "transcript_support_level": null,
          "aa_start": 139,
          "aa_end": null,
          "aa_length": 460,
          "cds_start": 415,
          "cds_end": null,
          "cds_length": 1383,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001394283.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SCHIP1",
          "gene_hgnc_id": 15678,
          "hgvs_c": "c.415G>A",
          "hgvs_p": "p.Val139Met",
          "transcript": "NM_001394284.1",
          "protein_id": "NP_001381213.1",
          "transcript_support_level": null,
          "aa_start": 139,
          "aa_end": null,
          "aa_length": 460,
          "cds_start": 415,
          "cds_end": null,
          "cds_length": 1383,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001394284.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SCHIP1",
          "gene_hgnc_id": 15678,
          "hgvs_c": "c.415G>A",
          "hgvs_p": "p.Val139Met",
          "transcript": "NM_001394285.1",
          "protein_id": "NP_001381214.1",
          "transcript_support_level": null,
          "aa_start": 139,
          "aa_end": null,
          "aa_length": 460,
          "cds_start": 415,
          "cds_end": null,
          "cds_length": 1383,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001394285.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
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          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SCHIP1",
          "gene_hgnc_id": 15678,
          "hgvs_c": "c.415G>A",
          "hgvs_p": "p.Val139Met",
          "transcript": "NM_001394286.1",
          "protein_id": "NP_001381215.1",
          "transcript_support_level": null,
          "aa_start": 139,
          "aa_end": null,
          "aa_length": 460,
          "cds_start": 415,
          "cds_end": null,
          "cds_length": 1383,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001394286.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SCHIP1",
          "gene_hgnc_id": 15678,
          "hgvs_c": "c.415G>A",
          "hgvs_p": "p.Val139Met",
          "transcript": "NM_001414418.1",
          "protein_id": "NP_001401347.1",
          "transcript_support_level": null,
          "aa_start": 139,
          "aa_end": null,
          "aa_length": 460,
          "cds_start": 415,
          "cds_end": null,
          "cds_length": 1383,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001414418.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SCHIP1",
          "gene_hgnc_id": 15678,
          "hgvs_c": "c.415G>A",
          "hgvs_p": "p.Val139Met",
          "transcript": "NM_001414419.1",
          "protein_id": "NP_001401348.1",
          "transcript_support_level": null,
          "aa_start": 139,
          "aa_end": null,
          "aa_length": 460,
          "cds_start": 415,
          "cds_end": null,
          "cds_length": 1383,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001414419.1"
        },
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      "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_001197113.2",
          "gene_symbol": "IQCJ-SCHIP1",
          "hgnc_id": 38842,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "c.724G>A",
          "hgvs_p": "p.Val242Met"
        },
        {
          "score": 0,
          "benign_score": 2,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Moderate"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "NM_014575.4",
          "gene_symbol": "SCHIP1",
          "hgnc_id": 15678,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.496G>A",
          "hgvs_p": "p.Val166Met"
        }
      ],
      "clinvar_disease": "not specified",
      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "US:1",
      "phenotype_combined": "not specified",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
    }
  ],
  "message": null
}