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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: 21-32639056-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=32639056&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "21",
      "pos": 32639056,
      "ref": "G",
      "alt": "A",
      "effect": "missense_variant",
      "transcript": "NM_003895.4",
      "consequences": [
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 31,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.3767C>T",
          "hgvs_p": "p.Pro1256Leu",
          "transcript": "NM_203446.3",
          "protein_id": "NP_982271.3",
          "transcript_support_level": null,
          "aa_start": 1256,
          "aa_end": null,
          "aa_length": 1311,
          "cds_start": 3767,
          "cds_end": null,
          "cds_length": 3936,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000674351.1",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_203446.3"
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 31,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.3767C>T",
          "hgvs_p": "p.Pro1256Leu",
          "transcript": "ENST00000674351.1",
          "protein_id": "ENSP00000501530.1",
          "transcript_support_level": null,
          "aa_start": 1256,
          "aa_end": null,
          "aa_length": 1311,
          "cds_start": 3767,
          "cds_end": null,
          "cds_length": 3936,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_203446.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000674351.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.3626C>T",
          "hgvs_p": "p.Pro1209Leu",
          "transcript": "ENST00000630077.3",
          "protein_id": "ENSP00000487560.1",
          "transcript_support_level": 1,
          "aa_start": 1209,
          "aa_end": null,
          "aa_length": 1526,
          "cds_start": 3626,
          "cds_end": null,
          "cds_length": 4581,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000630077.3"
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 31,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.3884C>T",
          "hgvs_p": "p.Pro1295Leu",
          "transcript": "NM_003895.4",
          "protein_id": "NP_003886.3",
          "transcript_support_level": null,
          "aa_start": 1295,
          "aa_end": null,
          "aa_length": 1612,
          "cds_start": 3884,
          "cds_end": null,
          "cds_length": 4839,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_003895.4"
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 31,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.3767C>T",
          "hgvs_p": "p.Pro1256Leu",
          "transcript": "ENST00000674308.1",
          "protein_id": "ENSP00000501426.1",
          "transcript_support_level": null,
          "aa_start": 1256,
          "aa_end": null,
          "aa_length": 1573,
          "cds_start": 3767,
          "cds_end": null,
          "cds_length": 4722,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000674308.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.3626C>T",
          "hgvs_p": "p.Pro1209Leu",
          "transcript": "NM_001160306.2",
          "protein_id": "NP_001153778.1",
          "transcript_support_level": null,
          "aa_start": 1209,
          "aa_end": null,
          "aa_length": 1526,
          "cds_start": 3626,
          "cds_end": null,
          "cds_length": 4581,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001160306.2"
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 31,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.3767C>T",
          "hgvs_p": "p.Pro1256Leu",
          "transcript": "ENST00000674204.1",
          "protein_id": "ENSP00000501504.1",
          "transcript_support_level": null,
          "aa_start": 1256,
          "aa_end": null,
          "aa_length": 1311,
          "cds_start": 3767,
          "cds_end": null,
          "cds_length": 3936,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000674204.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.3719C>T",
          "hgvs_p": "p.Pro1240Leu",
          "transcript": "NM_001160302.2",
          "protein_id": "NP_001153774.1",
          "transcript_support_level": null,
          "aa_start": 1240,
          "aa_end": null,
          "aa_length": 1295,
          "cds_start": 3719,
          "cds_end": null,
          "cds_length": 3888,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001160302.2"
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.3719C>T",
          "hgvs_p": "p.Pro1240Leu",
          "transcript": "ENST00000357345.8",
          "protein_id": "ENSP00000349903.3",
          "transcript_support_level": 5,
          "aa_start": 1240,
          "aa_end": null,
          "aa_length": 1295,
          "cds_start": 3719,
          "cds_end": null,
          "cds_length": 3888,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000357345.8"
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 29,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.3680C>T",
          "hgvs_p": "p.Pro1227Leu",
          "transcript": "ENST00000902244.1",
          "protein_id": "ENSP00000572303.1",
          "transcript_support_level": null,
          "aa_start": 1227,
          "aa_end": null,
          "aa_length": 1282,
          "cds_start": 3680,
          "cds_end": null,
          "cds_length": 3849,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000902244.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 29,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.3680C>T",
          "hgvs_p": "p.Pro1227Leu",
          "transcript": "ENST00000963072.1",
          "protein_id": "ENSP00000633131.1",
          "transcript_support_level": null,
          "aa_start": 1227,
          "aa_end": null,
          "aa_length": 1282,
          "cds_start": 3680,
          "cds_end": null,
          "cds_length": 3849,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000963072.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.3626C>T",
          "hgvs_p": "p.Pro1209Leu",
          "transcript": "ENST00000382491.7",
          "protein_id": "ENSP00000371931.4",
          "transcript_support_level": 5,
          "aa_start": 1209,
          "aa_end": null,
          "aa_length": 1264,
          "cds_start": 3626,
          "cds_end": null,
          "cds_length": 3795,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000382491.7"
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.3617C>T",
          "hgvs_p": "p.Pro1206Leu",
          "transcript": "ENST00000902245.1",
          "protein_id": "ENSP00000572304.1",
          "transcript_support_level": null,
          "aa_start": 1206,
          "aa_end": null,
          "aa_length": 1261,
          "cds_start": 3617,
          "cds_end": null,
          "cds_length": 3786,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000902245.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.392C>T",
          "hgvs_p": "p.Pro131Leu",
          "transcript": "ENST00000438952.5",
          "protein_id": "ENSP00000388869.1",
          "transcript_support_level": 5,
          "aa_start": 131,
          "aa_end": null,
          "aa_length": 186,
          "cds_start": 392,
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          "cdna_start": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000438952.5"
        },
        {
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.227C>T",
          "hgvs_p": "p.Pro76Leu",
          "transcript": "ENST00000418301.3",
          "protein_id": "ENSP00000387868.1",
          "transcript_support_level": 3,
          "aa_start": 76,
          "aa_end": null,
          "aa_length": 130,
          "cds_start": 227,
          "cds_end": null,
          "cds_length": 393,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000418301.3"
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.3869C>T",
          "hgvs_p": "p.Pro1290Leu",
          "transcript": "XM_017028495.3",
          "protein_id": "XP_016883984.1",
          "transcript_support_level": null,
          "aa_start": 1290,
          "aa_end": null,
          "aa_length": 1607,
          "cds_start": 3869,
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          "cds_length": 4824,
          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.3845C>T",
          "hgvs_p": "p.Pro1282Leu",
          "transcript": "XM_047441034.1",
          "protein_id": "XP_047296990.1",
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          "biotype": "protein_coding",
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        {
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          "strand": false,
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          ],
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          "exon_count": 31,
          "intron_rank": null,
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          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.3836C>T",
          "hgvs_p": "p.Pro1279Leu",
          "transcript": "XM_017028497.3",
          "protein_id": "XP_016883986.1",
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          "cds_start": 3836,
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        },
        {
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 29,
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          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.3806C>T",
          "hgvs_p": "p.Pro1269Leu",
          "transcript": "XM_047441035.1",
          "protein_id": "XP_047296991.1",
          "transcript_support_level": null,
          "aa_start": 1269,
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          "cds_start": 3806,
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          "cds_length": 4761,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047441035.1"
        },
        {
          "aa_ref": "P",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SYNJ1",
          "gene_hgnc_id": 11503,
          "hgvs_c": "c.3782C>T",
          "hgvs_p": "p.Pro1261Leu",
          "transcript": "XM_047441036.1",
          "protein_id": "XP_047296992.1",
          "transcript_support_level": null,
          "aa_start": 1261,
          "aa_end": null,
          "aa_length": 1578,
          "cds_start": 3782,
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      "clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
      "clinvar_submissions_summary": "US:3",
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}