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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: 8-132610197-G-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=132610197&ref=G&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "8",
      "pos": 132610197,
      "ref": "G",
      "alt": "C",
      "effect": "missense_variant",
      "transcript": "NM_012472.6",
      "consequences": [
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DNAAF11",
          "gene_hgnc_id": 16725,
          "hgvs_c": "c.1109C>G",
          "hgvs_p": "p.Thr370Arg",
          "transcript": "NM_012472.6",
          "protein_id": "NP_036604.2",
          "transcript_support_level": null,
          "aa_start": 370,
          "aa_end": null,
          "aa_length": 466,
          "cds_start": 1109,
          "cds_end": null,
          "cds_length": 1401,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000620350.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_012472.6"
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DNAAF11",
          "gene_hgnc_id": 16725,
          "hgvs_c": "c.1109C>G",
          "hgvs_p": "p.Thr370Arg",
          "transcript": "ENST00000620350.5",
          "protein_id": "ENSP00000484634.1",
          "transcript_support_level": 1,
          "aa_start": 370,
          "aa_end": null,
          "aa_length": 466,
          "cds_start": 1109,
          "cds_end": null,
          "cds_length": 1401,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_012472.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000620350.5"
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DNAAF11",
          "gene_hgnc_id": 16725,
          "hgvs_c": "c.1109C>G",
          "hgvs_p": "p.Thr370Arg",
          "transcript": "ENST00000519595.5",
          "protein_id": "ENSP00000429791.1",
          "transcript_support_level": 1,
          "aa_start": 370,
          "aa_end": null,
          "aa_length": 466,
          "cds_start": 1109,
          "cds_end": null,
          "cds_length": 1401,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000519595.5"
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DNAAF11",
          "gene_hgnc_id": 16725,
          "hgvs_c": "c.1100C>G",
          "hgvs_p": "p.Thr367Arg",
          "transcript": "ENST00000250173.5",
          "protein_id": "ENSP00000250173.2",
          "transcript_support_level": 1,
          "aa_start": 367,
          "aa_end": null,
          "aa_length": 411,
          "cds_start": 1100,
          "cds_end": null,
          "cds_length": 1236,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000250173.5"
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DNAAF11",
          "gene_hgnc_id": 16725,
          "hgvs_c": "c.1100C>G",
          "hgvs_p": "p.Thr367Arg",
          "transcript": "ENST00000518642.5",
          "protein_id": "ENSP00000428610.1",
          "transcript_support_level": 1,
          "aa_start": 367,
          "aa_end": null,
          "aa_length": 411,
          "cds_start": 1100,
          "cds_end": null,
          "cds_length": 1236,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000518642.5"
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DNAAF11",
          "gene_hgnc_id": 16725,
          "hgvs_c": "c.1187C>G",
          "hgvs_p": "p.Thr396Arg",
          "transcript": "ENST00000869719.1",
          "protein_id": "ENSP00000539778.1",
          "transcript_support_level": null,
          "aa_start": 396,
          "aa_end": null,
          "aa_length": 492,
          "cds_start": 1187,
          "cds_end": null,
          "cds_length": 1479,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000869719.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DNAAF11",
          "gene_hgnc_id": 16725,
          "hgvs_c": "c.1109C>G",
          "hgvs_p": "p.Thr370Arg",
          "transcript": "ENST00000940685.1",
          "protein_id": "ENSP00000610744.1",
          "transcript_support_level": null,
          "aa_start": 370,
          "aa_end": null,
          "aa_length": 465,
          "cds_start": 1109,
          "cds_end": null,
          "cds_length": 1398,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000940685.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DNAAF11",
          "gene_hgnc_id": 16725,
          "hgvs_c": "c.1049C>G",
          "hgvs_p": "p.Thr350Arg",
          "transcript": "NM_001321961.2",
          "protein_id": "NP_001308890.1",
          "transcript_support_level": null,
          "aa_start": 350,
          "aa_end": null,
          "aa_length": 446,
          "cds_start": 1049,
          "cds_end": null,
          "cds_length": 1341,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001321961.2"
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DNAAF11",
          "gene_hgnc_id": 16725,
          "hgvs_c": "c.1049C>G",
          "hgvs_p": "p.Thr350Arg",
          "transcript": "ENST00000869720.1",
          "protein_id": "ENSP00000539779.1",
          "transcript_support_level": null,
          "aa_start": 350,
          "aa_end": null,
          "aa_length": 446,
          "cds_start": 1049,
          "cds_end": null,
          "cds_length": 1341,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000869720.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DNAAF11",
          "gene_hgnc_id": 16725,
          "hgvs_c": "c.1049C>G",
          "hgvs_p": "p.Thr350Arg",
          "transcript": "ENST00000940684.1",
          "protein_id": "ENSP00000610743.1",
          "transcript_support_level": null,
          "aa_start": 350,
          "aa_end": null,
          "aa_length": 445,
          "cds_start": 1049,
          "cds_end": null,
          "cds_length": 1338,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000940684.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DNAAF11",
          "gene_hgnc_id": 16725,
          "hgvs_c": "c.863C>G",
          "hgvs_p": "p.Thr288Arg",
          "transcript": "NM_001321962.2",
          "protein_id": "NP_001308891.1",
          "transcript_support_level": null,
          "aa_start": 288,
          "aa_end": null,
          "aa_length": 384,
          "cds_start": 863,
          "cds_end": null,
          "cds_length": 1155,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001321962.2"
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DNAAF11",
          "gene_hgnc_id": 16725,
          "hgvs_c": "c.863C>G",
          "hgvs_p": "p.Thr288Arg",
          "transcript": "ENST00000869718.1",
          "protein_id": "ENSP00000539777.1",
          "transcript_support_level": null,
          "aa_start": 288,
          "aa_end": null,
          "aa_length": 384,
          "cds_start": 863,
          "cds_end": null,
          "cds_length": 1155,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000869718.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DNAAF11",
          "gene_hgnc_id": 16725,
          "hgvs_c": "c.803C>G",
          "hgvs_p": "p.Thr268Arg",
          "transcript": "ENST00000940687.1",
          "protein_id": "ENSP00000610746.1",
          "transcript_support_level": null,
          "aa_start": 268,
          "aa_end": null,
          "aa_length": 364,
          "cds_start": 803,
          "cds_end": null,
          "cds_length": 1095,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000940687.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DNAAF11",
          "gene_hgnc_id": 16725,
          "hgvs_c": "c.803C>G",
          "hgvs_p": "p.Thr268Arg",
          "transcript": "ENST00000940686.1",
          "protein_id": "ENSP00000610745.1",
          "transcript_support_level": null,
          "aa_start": 268,
          "aa_end": null,
          "aa_length": 363,
          "cds_start": 803,
          "cds_end": null,
          "cds_length": 1092,
          "cdna_start": null,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000940686.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 10,
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          "exon_count": 12,
          "intron_rank": null,
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          "gene_symbol": "DNAAF11",
          "gene_hgnc_id": 16725,
          "hgvs_c": "c.749C>G",
          "hgvs_p": "p.Thr250Arg",
          "transcript": "NM_001321963.2",
          "protein_id": "NP_001308892.1",
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          "aa_start": 250,
          "aa_end": null,
          "aa_length": 346,
          "cds_start": 749,
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          "cds_length": 1041,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001321963.2"
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DNAAF11",
          "gene_hgnc_id": 16725,
          "hgvs_c": "c.749C>G",
          "hgvs_p": "p.Thr250Arg",
          "transcript": "NM_001321964.2",
          "protein_id": "NP_001308893.1",
          "transcript_support_level": null,
          "aa_start": 250,
          "aa_end": null,
          "aa_length": 346,
          "cds_start": 749,
          "cds_end": null,
          "cds_length": 1041,
          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "NM_001321964.2"
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DNAAF11",
          "gene_hgnc_id": 16725,
          "hgvs_c": "c.749C>G",
          "hgvs_p": "p.Thr250Arg",
          "transcript": "NM_001321965.2",
          "protein_id": "NP_001308894.1",
          "transcript_support_level": null,
          "aa_start": 250,
          "aa_end": null,
          "aa_length": 346,
          "cds_start": 749,
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          "cdna_start": null,
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          "biotype": "protein_coding",
          "feature": "NM_001321965.2"
        },
        {
          "aa_ref": "T",
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          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DNAAF11",
          "gene_hgnc_id": 16725,
          "hgvs_c": "c.689C>G",
          "hgvs_p": "p.Thr230Arg",
          "transcript": "NM_001321966.2",
          "protein_id": "NP_001308895.1",
          "transcript_support_level": null,
          "aa_start": 230,
          "aa_end": null,
          "aa_length": 326,
          "cds_start": 689,
          "cds_end": null,
          "cds_length": 981,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001321966.2"
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
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          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DNAAF11",
          "gene_hgnc_id": 16725,
          "hgvs_c": "c.329C>G",
          "hgvs_p": "p.Thr110Arg",
          "transcript": "ENST00000522789.5",
          "protein_id": "ENSP00000428015.1",
          "transcript_support_level": 3,
          "aa_start": 110,
          "aa_end": null,
          "aa_length": 206,
          "cds_start": 329,
          "cds_end": null,
          "cds_length": 621,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000522789.5"
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DNAAF11",
          "gene_hgnc_id": 16725,
          "hgvs_c": "c.272C>G",
          "hgvs_p": "p.Thr91Arg",
          "transcript": "ENST00000519085.5",
          "protein_id": "ENSP00000429158.1",
          "transcript_support_level": 2,
          "aa_start": 91,
          "aa_end": null,
          "aa_length": 139,
          "cds_start": 272,
          "cds_end": null,
          "cds_length": 420,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
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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": "",
      "acmg_by_gene": [
        {
          "score": 0,
          "benign_score": 0,
          "pathogenic_score": 0,
          "criteria": [],
          "verdict": "Uncertain_significance",
          "transcript": "NM_012472.6",
          "gene_symbol": "DNAAF11",
          "hgnc_id": 16725,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.1109C>G",
          "hgvs_p": "p.Thr370Arg"
        }
      ],
      "clinvar_disease": "Primary ciliary dyskinesia,Primary ciliary dyskinesia 19",
      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
      "clinvar_submissions_summary": "US:3",
      "phenotype_combined": "Primary ciliary dyskinesia 19|Primary ciliary dyskinesia",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
    }
  ],
  "message": null
}
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