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GeneBe API Showcase

This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.

API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.

Documentation & Advanced Usage

Complete API documentation:docs.genebe.net/docs/api/overview/

Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/

Python client for pandas:pypi.org/project/genebe/

Java CLI for VCF files:github.com/pstawinski/genebe-cli

All tools documented at:docs.genebe.net

API Request Examples for Variant: 11-830670-G-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=830670&ref=G&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "11",
      "pos": 830670,
      "ref": "G",
      "alt": "T",
      "effect": "missense_variant",
      "transcript": "ENST00000525077.2",
      "consequences": [
        {
          "aa_ref": "S",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CRACR2B",
          "gene_hgnc_id": 28703,
          "hgvs_c": "c.743G>T",
          "hgvs_p": "p.Ser248Ile",
          "transcript": "NM_001286606.2",
          "protein_id": "NP_001273535.1",
          "transcript_support_level": null,
          "aa_start": 248,
          "aa_end": null,
          "aa_length": 399,
          "cds_start": 743,
          "cds_end": null,
          "cds_length": 1200,
          "cdna_start": 1432,
          "cdna_end": null,
          "cdna_length": 2166,
          "mane_select": "ENST00000525077.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "I",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CRACR2B",
          "gene_hgnc_id": 28703,
          "hgvs_c": "c.743G>T",
          "hgvs_p": "p.Ser248Ile",
          "transcript": "ENST00000525077.2",
          "protein_id": "ENSP00000435299.1",
          "transcript_support_level": 1,
          "aa_start": 248,
          "aa_end": null,
          "aa_length": 399,
          "cds_start": 743,
          "cds_end": null,
          "cds_length": 1200,
          "cdna_start": 1432,
          "cdna_end": null,
          "cdna_length": 2166,
          "mane_select": "NM_001286606.2",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CRACR2B",
          "gene_hgnc_id": 28703,
          "hgvs_c": "c.743G>T",
          "hgvs_p": "p.Ser248Ile",
          "transcript": "ENST00000450448.5",
          "protein_id": "ENSP00000409256.1",
          "transcript_support_level": 1,
          "aa_start": 248,
          "aa_end": null,
          "aa_length": 294,
          "cds_start": 743,
          "cds_end": null,
          "cds_length": 885,
          "cdna_start": 1091,
          "cdna_end": null,
          "cdna_length": 1663,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "I",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CRACR2B",
          "gene_hgnc_id": 28703,
          "hgvs_c": "c.743G>T",
          "hgvs_p": "p.Ser248Ile",
          "transcript": "ENST00000528542.6",
          "protein_id": "ENSP00000432334.1",
          "transcript_support_level": 1,
          "aa_start": 248,
          "aa_end": null,
          "aa_length": 294,
          "cds_start": 743,
          "cds_end": null,
          "cds_length": 885,
          "cdna_start": 1225,
          "cdna_end": null,
          "cdna_length": 1792,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CRACR2B",
          "gene_hgnc_id": 28703,
          "hgvs_c": "c.743G>T",
          "hgvs_p": "p.Ser248Ile",
          "transcript": "NM_173584.4",
          "protein_id": "NP_775855.3",
          "transcript_support_level": null,
          "aa_start": 248,
          "aa_end": null,
          "aa_length": 294,
          "cds_start": 743,
          "cds_end": null,
          "cds_length": 885,
          "cdna_start": 1091,
          "cdna_end": null,
          "cdna_length": 1663,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CRACR2B",
          "gene_hgnc_id": 28703,
          "hgvs_c": "c.1236G>T",
          "hgvs_p": "p.Glu412Asp",
          "transcript": "XM_017017582.2",
          "protein_id": "XP_016873071.1",
          "transcript_support_level": null,
          "aa_start": 412,
          "aa_end": null,
          "aa_length": 627,
          "cds_start": 1236,
          "cds_end": null,
          "cds_length": 1884,
          "cdna_start": 1752,
          "cdna_end": null,
          "cdna_length": 2682,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CRACR2B",
          "gene_hgnc_id": 28703,
          "hgvs_c": "c.1236G>T",
          "hgvs_p": "p.Glu412Asp",
          "transcript": "XM_017017583.2",
          "protein_id": "XP_016873072.1",
          "transcript_support_level": null,
          "aa_start": 412,
          "aa_end": null,
          "aa_length": 627,
          "cds_start": 1236,
          "cds_end": null,
          "cds_length": 1884,
          "cdna_start": 1722,
          "cdna_end": null,
          "cdna_length": 2652,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CRACR2B",
          "gene_hgnc_id": 28703,
          "hgvs_c": "c.1236G>T",
          "hgvs_p": "p.Glu412Asp",
          "transcript": "XM_017017584.2",
          "protein_id": "XP_016873073.1",
          "transcript_support_level": null,
          "aa_start": 412,
          "aa_end": null,
          "aa_length": 627,
          "cds_start": 1236,
          "cds_end": null,
          "cds_length": 1884,
          "cdna_start": 1806,
          "cdna_end": null,
          "cdna_length": 2736,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CRACR2B",
          "gene_hgnc_id": 28703,
          "hgvs_c": "c.1236G>T",
          "hgvs_p": "p.Glu412Asp",
          "transcript": "XM_017017585.2",
          "protein_id": "XP_016873074.1",
          "transcript_support_level": null,
          "aa_start": 412,
          "aa_end": null,
          "aa_length": 627,
          "cds_start": 1236,
          "cds_end": null,
          "cds_length": 1884,
          "cdna_start": 1776,
          "cdna_end": null,
          "cdna_length": 2706,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CRACR2B",
          "gene_hgnc_id": 28703,
          "hgvs_c": "c.1236G>T",
          "hgvs_p": "p.Glu412Asp",
          "transcript": "XM_017017586.2",
          "protein_id": "XP_016873075.1",
          "transcript_support_level": null,
          "aa_start": 412,
          "aa_end": null,
          "aa_length": 627,
          "cds_start": 1236,
          "cds_end": null,
          "cds_length": 1884,
          "cdna_start": 2173,
          "cdna_end": null,
          "cdna_length": 3103,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CRACR2B",
          "gene_hgnc_id": 28703,
          "hgvs_c": "c.1236G>T",
          "hgvs_p": "p.Glu412Asp",
          "transcript": "XM_017017587.2",
          "protein_id": "XP_016873076.1",
          "transcript_support_level": null,
          "aa_start": 412,
          "aa_end": null,
          "aa_length": 627,
          "cds_start": 1236,
          "cds_end": null,
          "cds_length": 1884,
          "cdna_start": 1407,
          "cdna_end": null,
          "cdna_length": 2337,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CRACR2B",
          "gene_hgnc_id": 28703,
          "hgvs_c": "c.1236G>T",
          "hgvs_p": "p.Glu412Asp",
          "transcript": "XM_017017588.2",
          "protein_id": "XP_016873077.1",
          "transcript_support_level": null,
          "aa_start": 412,
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          "aa_length": 627,
          "cds_start": 1236,
          "cds_end": null,
          "cds_length": 1884,
          "cdna_start": 1461,
          "cdna_end": null,
          "cdna_length": 2391,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
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          "gene_symbol": "CRACR2B",
          "gene_hgnc_id": 28703,
          "hgvs_c": "c.1218G>T",
          "hgvs_p": "p.Glu406Asp",
          "transcript": "XM_017017589.2",
          "protein_id": "XP_016873078.1",
          "transcript_support_level": null,
          "aa_start": 406,
          "aa_end": null,
          "aa_length": 621,
          "cds_start": 1218,
          "cds_end": null,
          "cds_length": 1866,
          "cdna_start": 1935,
          "cdna_end": null,
          "cdna_length": 2865,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CRACR2B",
          "gene_hgnc_id": 28703,
          "hgvs_c": "c.1044G>T",
          "hgvs_p": "p.Glu348Asp",
          "transcript": "XM_017017590.2",
          "protein_id": "XP_016873079.1",
          "transcript_support_level": null,
          "aa_start": 348,
          "aa_end": null,
          "aa_length": 563,
          "cds_start": 1044,
          "cds_end": null,
          "cds_length": 1692,
          "cdna_start": 1532,
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          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "D",
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          "protein_coding": true,
          "strand": true,
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          ],
          "exon_rank": 6,
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          "gene_symbol": "CRACR2B",
          "gene_hgnc_id": 28703,
          "hgvs_c": "c.1044G>T",
          "hgvs_p": "p.Glu348Asp",
          "transcript": "XM_017017591.2",
          "protein_id": "XP_016873080.1",
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CRACR2B",
          "gene_hgnc_id": 28703,
          "hgvs_c": "c.1044G>T",
          "hgvs_p": "p.Glu348Asp",
          "transcript": "XM_017017592.2",
          "protein_id": "XP_016873081.1",
          "transcript_support_level": null,
          "aa_start": 348,
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          "cds_start": 1044,
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          "cdna_start": 1556,
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          "mane_select": null,
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          "biotype": null,
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        },
        {
          "aa_ref": "E",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
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          ],
          "exon_rank": 6,
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          "exon_count": 8,
          "intron_rank": null,
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          "gene_symbol": "CRACR2B",
          "gene_hgnc_id": 28703,
          "hgvs_c": "c.1044G>T",
          "hgvs_p": "p.Glu348Asp",
          "transcript": "XM_017017593.2",
          "protein_id": "XP_016873082.1",
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          "cds_start": 1044,
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          "cdna_start": 1953,
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          "mane_select": null,
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        },
        {
          "aa_ref": "E",
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          ],
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          "intron_rank": null,
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          "gene_symbol": "CRACR2B",
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          "hgvs_c": "c.1044G>T",
          "hgvs_p": "p.Glu348Asp",
          "transcript": "XM_017017594.2",
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        },
        {
          "aa_ref": "E",
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          "canonical": false,
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          ],
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          "intron_rank": null,
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          "gene_symbol": "CRACR2B",
          "gene_hgnc_id": 28703,
          "hgvs_c": "c.1044G>T",
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          "feature": null
        },
        {
          "aa_ref": "E",
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          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
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          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CRACR2B",
          "gene_hgnc_id": 28703,
          "hgvs_c": "c.1026G>T",
          "hgvs_p": "p.Glu342Asp",
          "transcript": "XM_047426804.1",
          "protein_id": "XP_047282760.1",
          "transcript_support_level": null,
          "aa_start": 342,
          "aa_end": null,
          "aa_length": 557,
          "cds_start": 1026,
          "cds_end": null,
          "cds_length": 1674,
          "cdna_start": 1568,
          "cdna_end": null,
          "cdna_length": 2498,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
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      "custom_annotations": null
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}