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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: 3-51361872-A-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=51361872&ref=A&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "3",
      "pos": 51361872,
      "ref": "A",
      "alt": "G",
      "effect": "missense_variant",
      "transcript": "NM_004947.5",
      "consequences": [
        {
          "aa_ref": "M",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 48,
          "exon_rank_end": null,
          "exon_count": 53,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DOCK3",
          "gene_hgnc_id": 2989,
          "hgvs_c": "c.5020A>G",
          "hgvs_p": "p.Met1674Val",
          "transcript": "NM_004947.5",
          "protein_id": "NP_004938.1",
          "transcript_support_level": null,
          "aa_start": 1674,
          "aa_end": null,
          "aa_length": 2030,
          "cds_start": 5020,
          "cds_end": null,
          "cds_length": 6093,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000266037.10",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_004947.5"
        },
        {
          "aa_ref": "M",
          "aa_alt": "V",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 48,
          "exon_rank_end": null,
          "exon_count": 53,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DOCK3",
          "gene_hgnc_id": 2989,
          "hgvs_c": "c.5020A>G",
          "hgvs_p": "p.Met1674Val",
          "transcript": "ENST00000266037.10",
          "protein_id": "ENSP00000266037.8",
          "transcript_support_level": 1,
          "aa_start": 1674,
          "aa_end": null,
          "aa_length": 2030,
          "cds_start": 5020,
          "cds_end": null,
          "cds_length": 6093,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_004947.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000266037.10"
        },
        {
          "aa_ref": "M",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 46,
          "exon_rank_end": null,
          "exon_count": 52,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DOCK3",
          "gene_hgnc_id": 2989,
          "hgvs_c": "c.4846A>G",
          "hgvs_p": "p.Met1616Val",
          "transcript": "ENST00000945458.1",
          "protein_id": "ENSP00000615517.1",
          "transcript_support_level": null,
          "aa_start": 1616,
          "aa_end": null,
          "aa_length": 2013,
          "cds_start": 4846,
          "cds_end": null,
          "cds_length": 6042,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000945458.1"
        },
        {
          "aa_ref": "M",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 43,
          "exon_rank_end": null,
          "exon_count": 48,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DOCK3",
          "gene_hgnc_id": 2989,
          "hgvs_c": "c.4489A>G",
          "hgvs_p": "p.Met1497Val",
          "transcript": "ENST00000924010.1",
          "protein_id": "ENSP00000594069.1",
          "transcript_support_level": null,
          "aa_start": 1497,
          "aa_end": null,
          "aa_length": 1853,
          "cds_start": 4489,
          "cds_end": null,
          "cds_length": 5562,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000924010.1"
        },
        {
          "aa_ref": "M",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 48,
          "exon_rank_end": null,
          "exon_count": 54,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DOCK3",
          "gene_hgnc_id": 2989,
          "hgvs_c": "c.5020A>G",
          "hgvs_p": "p.Met1674Val",
          "transcript": "XM_005264914.4",
          "protein_id": "XP_005264971.1",
          "transcript_support_level": null,
          "aa_start": 1674,
          "aa_end": null,
          "aa_length": 2071,
          "cds_start": 5020,
          "cds_end": null,
          "cds_length": 6216,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_005264914.4"
        },
        {
          "aa_ref": "M",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 48,
          "exon_rank_end": null,
          "exon_count": 54,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DOCK3",
          "gene_hgnc_id": 2989,
          "hgvs_c": "c.5020A>G",
          "hgvs_p": "p.Met1674Val",
          "transcript": "XM_005264915.4",
          "protein_id": "XP_005264972.1",
          "transcript_support_level": null,
          "aa_start": 1674,
          "aa_end": null,
          "aa_length": 2065,
          "cds_start": 5020,
          "cds_end": null,
          "cds_length": 6198,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_005264915.4"
        },
        {
          "aa_ref": "M",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 47,
          "exon_rank_end": null,
          "exon_count": 53,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DOCK3",
          "gene_hgnc_id": 2989,
          "hgvs_c": "c.4993A>G",
          "hgvs_p": "p.Met1665Val",
          "transcript": "XM_005264916.5",
          "protein_id": "XP_005264973.1",
          "transcript_support_level": null,
          "aa_start": 1665,
          "aa_end": null,
          "aa_length": 2062,
          "cds_start": 4993,
          "cds_end": null,
          "cds_length": 6189,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_005264916.5"
        },
        {
          "aa_ref": "M",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 48,
          "exon_rank_end": null,
          "exon_count": 54,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DOCK3",
          "gene_hgnc_id": 2989,
          "hgvs_c": "c.4978A>G",
          "hgvs_p": "p.Met1660Val",
          "transcript": "XM_005264917.4",
          "protein_id": "XP_005264974.1",
          "transcript_support_level": null,
          "aa_start": 1660,
          "aa_end": null,
          "aa_length": 2057,
          "cds_start": 4978,
          "cds_end": null,
          "cds_length": 6174,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_005264917.4"
        },
        {
          "aa_ref": "M",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 47,
          "exon_rank_end": null,
          "exon_count": 53,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DOCK3",
          "gene_hgnc_id": 2989,
          "hgvs_c": "c.4951A>G",
          "hgvs_p": "p.Met1651Val",
          "transcript": "XM_047447595.1",
          "protein_id": "XP_047303551.1",
          "transcript_support_level": null,
          "aa_start": 1651,
          "aa_end": null,
          "aa_length": 2048,
          "cds_start": 4951,
          "cds_end": null,
          "cds_length": 6147,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047447595.1"
        },
        {
          "aa_ref": "M",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 47,
          "exon_rank_end": null,
          "exon_count": 53,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DOCK3",
          "gene_hgnc_id": 2989,
          "hgvs_c": "c.4933A>G",
          "hgvs_p": "p.Met1645Val",
          "transcript": "XM_006713009.4",
          "protein_id": "XP_006713072.1",
          "transcript_support_level": null,
          "aa_start": 1645,
          "aa_end": null,
          "aa_length": 2042,
          "cds_start": 4933,
          "cds_end": null,
          "cds_length": 6129,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_006713009.4"
        },
        {
          "aa_ref": "M",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 47,
          "exon_rank_end": null,
          "exon_count": 53,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DOCK3",
          "gene_hgnc_id": 2989,
          "hgvs_c": "c.4951A>G",
          "hgvs_p": "p.Met1651Val",
          "transcript": "XM_047447596.1",
          "protein_id": "XP_047303552.1",
          "transcript_support_level": null,
          "aa_start": 1651,
          "aa_end": null,
          "aa_length": 2042,
          "cds_start": 4951,
          "cds_end": null,
          "cds_length": 6129,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047447596.1"
        },
        {
          "aa_ref": "M",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 48,
          "exon_rank_end": null,
          "exon_count": 53,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DOCK3",
          "gene_hgnc_id": 2989,
          "hgvs_c": "c.5020A>G",
          "hgvs_p": "p.Met1674Val",
          "transcript": "XM_017005825.3",
          "protein_id": "XP_016861314.1",
          "transcript_support_level": null,
          "aa_start": 1674,
          "aa_end": null,
          "aa_length": 2024,
          "cds_start": 5020,
          "cds_end": null,
          "cds_length": 6075,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "XM_017005825.3"
        },
        {
          "aa_ref": "M",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 47,
          "exon_rank_end": null,
          "exon_count": 53,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DOCK3",
          "gene_hgnc_id": 2989,
          "hgvs_c": "c.4873A>G",
          "hgvs_p": "p.Met1625Val",
          "transcript": "XM_005264918.5",
          "protein_id": "XP_005264975.1",
          "transcript_support_level": null,
          "aa_start": 1625,
          "aa_end": null,
          "aa_length": 2022,
          "cds_start": 4873,
          "cds_end": null,
          "cds_length": 6069,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_005264918.5"
        },
        {
          "aa_ref": "M",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 47,
          "exon_rank_end": null,
          "exon_count": 52,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DOCK3",
          "gene_hgnc_id": 2989,
          "hgvs_c": "c.4993A>G",
          "hgvs_p": "p.Met1665Val",
          "transcript": "XM_047447597.1",
          "protein_id": "XP_047303553.1",
          "transcript_support_level": null,
          "aa_start": 1665,
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          "cds_start": 4993,
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        },
        {
          "aa_ref": "M",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
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          "exon_count": 52,
          "intron_rank": null,
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          "gene_symbol": "DOCK3",
          "gene_hgnc_id": 2989,
          "hgvs_c": "c.4993A>G",
          "hgvs_p": "p.Met1665Val",
          "transcript": "XM_047447598.1",
          "protein_id": "XP_047303554.1",
          "transcript_support_level": null,
          "aa_start": 1665,
          "aa_end": null,
          "aa_length": 2015,
          "cds_start": 4993,
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          "cds_length": 6048,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "XM_047447598.1"
        },
        {
          "aa_ref": "M",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 46,
          "exon_rank_end": null,
          "exon_count": 52,
          "intron_rank": null,
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          "gene_symbol": "DOCK3",
          "gene_hgnc_id": 2989,
          "hgvs_c": "c.4846A>G",
          "hgvs_p": "p.Met1616Val",
          "transcript": "XM_047447599.1",
          "protein_id": "XP_047303555.1",
          "transcript_support_level": null,
          "aa_start": 1616,
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          "aa_length": 2013,
          "cds_start": 4846,
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          "cdna_start": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "M",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 47,
          "exon_rank_end": null,
          "exon_count": 52,
          "intron_rank": null,
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          "gene_symbol": "DOCK3",
          "gene_hgnc_id": 2989,
          "hgvs_c": "c.4951A>G",
          "hgvs_p": "p.Met1651Val",
          "transcript": "XM_047447601.1",
          "protein_id": "XP_047303557.1",
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        {
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          "strand": true,
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          ],
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          "intron_rank": null,
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          "gene_symbol": "DOCK3",
          "gene_hgnc_id": 2989,
          "hgvs_c": "c.4933A>G",
          "hgvs_p": "p.Met1645Val",
          "transcript": "XM_047447602.1",
          "protein_id": "XP_047303558.1",
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        },
        {
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          ],
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          "gene_symbol": "DOCK3",
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          "hgvs_c": "c.4933A>G",
          "hgvs_p": "p.Met1645Val",
          "transcript": "XM_047447603.1",
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          "cdna_start": null,
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          "biotype": "protein_coding",
          "feature": "XM_047447603.1"
        },
        {
          "aa_ref": "M",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 48,
          "exon_rank_end": null,
          "exon_count": 54,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DOCK3",
          "gene_hgnc_id": 2989,
          "hgvs_c": "c.4666A>G",
          "hgvs_p": "p.Met1556Val",
          "transcript": "XM_047447605.1",
          "protein_id": "XP_047303561.1",
          "transcript_support_level": null,
          "aa_start": 1556,
          "aa_end": null,
          "aa_length": 1953,
          "cds_start": 4666,
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