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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: 12-32722602-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=32722602&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "12",
      "pos": 32722602,
      "ref": "G",
      "alt": "A",
      "effect": "missense_variant",
      "transcript": "NM_001278464.2",
      "consequences": [
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DNM1L",
          "gene_hgnc_id": 2973,
          "hgvs_c": "c.1087G>A",
          "hgvs_p": "p.Gly363Arg",
          "transcript": "NM_001278464.2",
          "protein_id": "NP_001265393.1",
          "transcript_support_level": null,
          "aa_start": 363,
          "aa_end": null,
          "aa_length": 749,
          "cds_start": 1087,
          "cds_end": null,
          "cds_length": 2250,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": "ENST00000553257.6",
          "biotype": "protein_coding",
          "feature": "NM_001278464.2"
        },
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DNM1L",
          "gene_hgnc_id": 2973,
          "hgvs_c": "c.1087G>A",
          "hgvs_p": "p.Gly363Arg",
          "transcript": "ENST00000553257.6",
          "protein_id": "ENSP00000449089.1",
          "transcript_support_level": 2,
          "aa_start": 363,
          "aa_end": null,
          "aa_length": 749,
          "cds_start": 1087,
          "cds_end": null,
          "cds_length": 2250,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": "NM_001278464.2",
          "biotype": "protein_coding",
          "feature": "ENST00000553257.6"
        },
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DNM1L",
          "gene_hgnc_id": 2973,
          "hgvs_c": "c.1048G>A",
          "hgvs_p": "p.Gly350Arg",
          "transcript": "NM_012062.5",
          "protein_id": "NP_036192.2",
          "transcript_support_level": null,
          "aa_start": 350,
          "aa_end": null,
          "aa_length": 736,
          "cds_start": 1048,
          "cds_end": null,
          "cds_length": 2211,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000549701.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_012062.5"
        },
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DNM1L",
          "gene_hgnc_id": 2973,
          "hgvs_c": "c.1048G>A",
          "hgvs_p": "p.Gly350Arg",
          "transcript": "ENST00000549701.6",
          "protein_id": "ENSP00000450399.1",
          "transcript_support_level": 1,
          "aa_start": 350,
          "aa_end": null,
          "aa_length": 736,
          "cds_start": 1048,
          "cds_end": null,
          "cds_length": 2211,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_012062.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000549701.6"
        },
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DNM1L",
          "gene_hgnc_id": 2973,
          "hgvs_c": "c.1087G>A",
          "hgvs_p": "p.Gly363Arg",
          "transcript": "ENST00000381000.8",
          "protein_id": "ENSP00000370388.4",
          "transcript_support_level": 1,
          "aa_start": 363,
          "aa_end": null,
          "aa_length": 738,
          "cds_start": 1087,
          "cds_end": null,
          "cds_length": 2217,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000381000.8"
        },
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DNM1L",
          "gene_hgnc_id": 2973,
          "hgvs_c": "c.1048G>A",
          "hgvs_p": "p.Gly350Arg",
          "transcript": "ENST00000547312.5",
          "protein_id": "ENSP00000448610.1",
          "transcript_support_level": 1,
          "aa_start": 350,
          "aa_end": null,
          "aa_length": 725,
          "cds_start": 1048,
          "cds_end": null,
          "cds_length": 2178,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000547312.5"
        },
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DNM1L",
          "gene_hgnc_id": 2973,
          "hgvs_c": "c.1048G>A",
          "hgvs_p": "p.Gly350Arg",
          "transcript": "ENST00000452533.6",
          "protein_id": "ENSP00000415131.2",
          "transcript_support_level": 1,
          "aa_start": 350,
          "aa_end": null,
          "aa_length": 710,
          "cds_start": 1048,
          "cds_end": null,
          "cds_length": 2133,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000452533.6"
        },
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DNM1L",
          "gene_hgnc_id": 2973,
          "hgvs_c": "c.1048G>A",
          "hgvs_p": "p.Gly350Arg",
          "transcript": "ENST00000266481.10",
          "protein_id": "ENSP00000266481.6",
          "transcript_support_level": 1,
          "aa_start": 350,
          "aa_end": null,
          "aa_length": 699,
          "cds_start": 1048,
          "cds_end": null,
          "cds_length": 2100,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000266481.10"
        },
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DNM1L",
          "gene_hgnc_id": 2973,
          "hgvs_c": "c.1087G>A",
          "hgvs_p": "p.Gly363Arg",
          "transcript": "ENST00000945622.1",
          "protein_id": "ENSP00000615681.1",
          "transcript_support_level": null,
          "aa_start": 363,
          "aa_end": null,
          "aa_length": 766,
          "cds_start": 1087,
          "cds_end": null,
          "cds_length": 2301,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000945622.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DNM1L",
          "gene_hgnc_id": 2973,
          "hgvs_c": "c.1048G>A",
          "hgvs_p": "p.Gly350Arg",
          "transcript": "ENST00000924992.1",
          "protein_id": "ENSP00000595051.1",
          "transcript_support_level": null,
          "aa_start": 350,
          "aa_end": null,
          "aa_length": 753,
          "cds_start": 1048,
          "cds_end": null,
          "cds_length": 2262,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000924992.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DNM1L",
          "gene_hgnc_id": 2973,
          "hgvs_c": "c.1087G>A",
          "hgvs_p": "p.Gly363Arg",
          "transcript": "NM_001278465.2",
          "protein_id": "NP_001265394.1",
          "transcript_support_level": null,
          "aa_start": 363,
          "aa_end": null,
          "aa_length": 738,
          "cds_start": 1087,
          "cds_end": null,
          "cds_length": 2217,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001278465.2"
        },
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DNM1L",
          "gene_hgnc_id": 2973,
          "hgvs_c": "c.1048G>A",
          "hgvs_p": "p.Gly350Arg",
          "transcript": "ENST00000861255.1",
          "protein_id": "ENSP00000531314.1",
          "transcript_support_level": null,
          "aa_start": 350,
          "aa_end": null,
          "aa_length": 727,
          "cds_start": 1048,
          "cds_end": null,
          "cds_length": 2184,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000861255.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DNM1L",
          "gene_hgnc_id": 2973,
          "hgvs_c": "c.1048G>A",
          "hgvs_p": "p.Gly350Arg",
          "transcript": "NM_001278463.2",
          "protein_id": "NP_001265392.1",
          "transcript_support_level": null,
          "aa_start": 350,
          "aa_end": null,
          "aa_length": 725,
          "cds_start": 1048,
          "cds_end": null,
          "cds_length": 2178,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001278463.2"
        },
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DNM1L",
          "gene_hgnc_id": 2973,
          "hgvs_c": "c.997G>A",
          "hgvs_p": "p.Gly333Arg",
          "transcript": "ENST00000551476.6",
          "protein_id": "ENSP00000447845.2",
          "transcript_support_level": 5,
          "aa_start": 333,
          "aa_end": null,
          "aa_length": 719,
          "cds_start": 997,
          "cds_end": null,
          "cds_length": 2160,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000551476.6"
        },
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DNM1L",
          "gene_hgnc_id": 2973,
          "hgvs_c": "c.1087G>A",
          "hgvs_p": "p.Gly363Arg",
          "transcript": "NM_001330380.2",
          "protein_id": "NP_001317309.1",
          "transcript_support_level": null,
          "aa_start": 363,
          "aa_end": null,
          "aa_length": 712,
          "cds_start": 1087,
          "cds_end": null,
          "cds_length": 2139,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001330380.2"
        },
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DNM1L",
          "gene_hgnc_id": 2973,
          "hgvs_c": "c.1087G>A",
          "hgvs_p": "p.Gly363Arg",
          "transcript": "ENST00000358214.9",
          "protein_id": "ENSP00000350948.5",
          "transcript_support_level": 5,
          "aa_start": 363,
          "aa_end": null,
          "aa_length": 712,
          "cds_start": 1087,
          "cds_end": null,
          "cds_length": 2139,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000358214.9"
        },
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DNM1L",
          "gene_hgnc_id": 2973,
          "hgvs_c": "c.1048G>A",
          "hgvs_p": "p.Gly350Arg",
          "transcript": "NM_012063.4",
          "protein_id": "NP_036193.2",
          "transcript_support_level": null,
          "aa_start": 350,
          "aa_end": null,
          "aa_length": 710,
          "cds_start": 1048,
          "cds_end": null,
          "cds_length": 2133,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_012063.4"
        },
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DNM1L",
          "gene_hgnc_id": 2973,
          "hgvs_c": "c.1048G>A",
          "hgvs_p": "p.Gly350Arg",
          "transcript": "NM_005690.5",
          "protein_id": "NP_005681.2",
          "transcript_support_level": null,
          "aa_start": 350,
          "aa_end": null,
          "aa_length": 699,
          "cds_start": 1048,
          "cds_end": null,
          "cds_length": 2100,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_005690.5"
        },
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DNM1L",
          "gene_hgnc_id": 2973,
          "hgvs_c": "c.961G>A",
          "hgvs_p": "p.Gly321Arg",
          "transcript": "ENST00000548750.6",
          "protein_id": "ENSP00000447788.2",
          "transcript_support_level": 3,
          "aa_start": 321,
          "aa_end": null,
          "aa_length": 696,
          "cds_start": 961,
          "cds_end": null,
          "cds_length": 2091,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000548750.6"
        },
        {
          "aa_ref": "G",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DNM1L",
          "gene_hgnc_id": 2973,
          "hgvs_c": "c.1000G>A",
          "hgvs_p": "p.Gly334Arg",
          "transcript": "ENST00000945620.1",
          "protein_id": "ENSP00000615679.1",
          "transcript_support_level": null,
          "aa_start": 334,
          "aa_end": null,
          "aa_length": 683,
          "cds_start": 1000,
          "cds_end": null,
          "cds_length": 2052,
          "cdna_start": null,
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      "computational_prediction_selected": "Pathogenic",
      "computational_source_selected": "MetaRNN",
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      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
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      "acmg_by_gene": [
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          "transcript": "NM_001278464.2",
          "gene_symbol": "DNM1L",
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          "effects": [
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      "clinvar_disease": " due to defective mitochondrial peroxisomal fission 1, lethal,Encephalopathy",
      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "US:1",
      "phenotype_combined": "Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
    }
  ],
  "message": null
}
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.