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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: 3-10078098-A-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=10078098&ref=A&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "3",
      "pos": 10078098,
      "ref": "A",
      "alt": "T",
      "effect": "missense_variant",
      "transcript": "NM_033084.6",
      "consequences": [
        {
          "aa_ref": "Q",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 44,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCD2",
          "gene_hgnc_id": 3585,
          "hgvs_c": "c.2877A>T",
          "hgvs_p": "p.Gln959His",
          "transcript": "NM_001018115.3",
          "protein_id": "NP_001018125.1",
          "transcript_support_level": null,
          "aa_start": 959,
          "aa_end": null,
          "aa_length": 1451,
          "cds_start": 2877,
          "cds_end": null,
          "cds_length": 4356,
          "cdna_start": 2947,
          "cdna_end": null,
          "cdna_length": 5096,
          "mane_select": "ENST00000675286.1",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001018115.3"
        },
        {
          "aa_ref": "Q",
          "aa_alt": "H",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 44,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCD2",
          "gene_hgnc_id": 3585,
          "hgvs_c": "c.2877A>T",
          "hgvs_p": "p.Gln959His",
          "transcript": "ENST00000675286.1",
          "protein_id": "ENSP00000502379.1",
          "transcript_support_level": null,
          "aa_start": 959,
          "aa_end": null,
          "aa_length": 1451,
          "cds_start": 2877,
          "cds_end": null,
          "cds_length": 4356,
          "cdna_start": 2947,
          "cdna_end": null,
          "cdna_length": 5096,
          "mane_select": "NM_001018115.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000675286.1"
        },
        {
          "aa_ref": "Q",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 43,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCD2",
          "gene_hgnc_id": 3585,
          "hgvs_c": "c.2877A>T",
          "hgvs_p": "p.Gln959His",
          "transcript": "ENST00000287647.7",
          "protein_id": "ENSP00000287647.3",
          "transcript_support_level": 1,
          "aa_start": 959,
          "aa_end": null,
          "aa_length": 1471,
          "cds_start": 2877,
          "cds_end": null,
          "cds_length": 4416,
          "cdna_start": 2970,
          "cdna_end": null,
          "cdna_length": 5219,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000287647.7"
        },
        {
          "aa_ref": "Q",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 44,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCD2",
          "gene_hgnc_id": 3585,
          "hgvs_c": "c.2877A>T",
          "hgvs_p": "p.Gln959His",
          "transcript": "ENST00000419585.5",
          "protein_id": "ENSP00000398754.1",
          "transcript_support_level": 1,
          "aa_start": 959,
          "aa_end": null,
          "aa_length": 1451,
          "cds_start": 2877,
          "cds_end": null,
          "cds_length": 4356,
          "cdna_start": 3038,
          "cdna_end": null,
          "cdna_length": 5185,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000419585.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCD2",
          "gene_hgnc_id": 3585,
          "hgvs_c": "n.1374A>T",
          "hgvs_p": null,
          "transcript": "ENST00000421731.5",
          "protein_id": "ENSP00000389936.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3425,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000421731.5"
        },
        {
          "aa_ref": "Q",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 44,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCD2",
          "gene_hgnc_id": 3585,
          "hgvs_c": "c.2949A>T",
          "hgvs_p": "p.Gln983His",
          "transcript": "ENST00000915105.1",
          "protein_id": "ENSP00000585164.1",
          "transcript_support_level": null,
          "aa_start": 983,
          "aa_end": null,
          "aa_length": 1475,
          "cds_start": 2949,
          "cds_end": null,
          "cds_length": 4428,
          "cdna_start": 3019,
          "cdna_end": null,
          "cdna_length": 5162,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000915105.1"
        },
        {
          "aa_ref": "Q",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 43,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCD2",
          "gene_hgnc_id": 3585,
          "hgvs_c": "c.2877A>T",
          "hgvs_p": "p.Gln959His",
          "transcript": "NM_033084.6",
          "protein_id": "NP_149075.2",
          "transcript_support_level": null,
          "aa_start": 959,
          "aa_end": null,
          "aa_length": 1471,
          "cds_start": 2877,
          "cds_end": null,
          "cds_length": 4416,
          "cdna_start": 2947,
          "cdna_end": null,
          "cdna_length": 4879,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_033084.6"
        },
        {
          "aa_ref": "Q",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 42,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCD2",
          "gene_hgnc_id": 3585,
          "hgvs_c": "c.2877A>T",
          "hgvs_p": "p.Gln959His",
          "transcript": "NM_001374254.1",
          "protein_id": "NP_001361183.1",
          "transcript_support_level": null,
          "aa_start": 959,
          "aa_end": null,
          "aa_length": 1458,
          "cds_start": 2877,
          "cds_end": null,
          "cds_length": 4377,
          "cdna_start": 2947,
          "cdna_end": null,
          "cdna_length": 4840,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001374254.1"
        },
        {
          "aa_ref": "Q",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 44,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCD2",
          "gene_hgnc_id": 3585,
          "hgvs_c": "c.2877A>T",
          "hgvs_p": "p.Gln959His",
          "transcript": "NM_001319984.2",
          "protein_id": "NP_001306913.1",
          "transcript_support_level": null,
          "aa_start": 959,
          "aa_end": null,
          "aa_length": 1451,
          "cds_start": 2877,
          "cds_end": null,
          "cds_length": 4356,
          "cdna_start": 3100,
          "cdna_end": null,
          "cdna_length": 5249,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001319984.2"
        },
        {
          "aa_ref": "Q",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 44,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCD2",
          "gene_hgnc_id": 3585,
          "hgvs_c": "c.2877A>T",
          "hgvs_p": "p.Gln959His",
          "transcript": "ENST00000915101.1",
          "protein_id": "ENSP00000585160.1",
          "transcript_support_level": null,
          "aa_start": 959,
          "aa_end": null,
          "aa_length": 1451,
          "cds_start": 2877,
          "cds_end": null,
          "cds_length": 4356,
          "cdna_start": 2954,
          "cdna_end": null,
          "cdna_length": 5101,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000915101.1"
        },
        {
          "aa_ref": "Q",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 44,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCD2",
          "gene_hgnc_id": 3585,
          "hgvs_c": "c.2874A>T",
          "hgvs_p": "p.Gln958His",
          "transcript": "ENST00000915096.1",
          "protein_id": "ENSP00000585155.1",
          "transcript_support_level": null,
          "aa_start": 958,
          "aa_end": null,
          "aa_length": 1450,
          "cds_start": 2874,
          "cds_end": null,
          "cds_length": 4353,
          "cdna_start": 2964,
          "cdna_end": null,
          "cdna_length": 5114,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000915096.1"
        },
        {
          "aa_ref": "Q",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 44,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCD2",
          "gene_hgnc_id": 3585,
          "hgvs_c": "c.2868A>T",
          "hgvs_p": "p.Gln956His",
          "transcript": "ENST00000915113.1",
          "protein_id": "ENSP00000585172.1",
          "transcript_support_level": null,
          "aa_start": 956,
          "aa_end": null,
          "aa_length": 1448,
          "cds_start": 2868,
          "cds_end": null,
          "cds_length": 4347,
          "cdna_start": 2928,
          "cdna_end": null,
          "cdna_length": 4430,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000915113.1"
        },
        {
          "aa_ref": "Q",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 44,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCD2",
          "gene_hgnc_id": 3585,
          "hgvs_c": "c.2841A>T",
          "hgvs_p": "p.Gln947His",
          "transcript": "ENST00000915095.1",
          "protein_id": "ENSP00000585154.1",
          "transcript_support_level": null,
          "aa_start": 947,
          "aa_end": null,
          "aa_length": 1439,
          "cds_start": 2841,
          "cds_end": null,
          "cds_length": 4320,
          "cdna_start": 2931,
          "cdna_end": null,
          "cdna_length": 5082,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000915095.1"
        },
        {
          "aa_ref": "Q",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 43,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCD2",
          "gene_hgnc_id": 3585,
          "hgvs_c": "c.2877A>T",
          "hgvs_p": "p.Gln959His",
          "transcript": "ENST00000915104.1",
          "protein_id": "ENSP00000585163.1",
          "transcript_support_level": null,
          "aa_start": 959,
          "aa_end": null,
          "aa_length": 1438,
          "cds_start": 2877,
          "cds_end": null,
          "cds_length": 4317,
          "cdna_start": 2946,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000915104.1"
        },
        {
          "aa_ref": "Q",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 43,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCD2",
          "gene_hgnc_id": 3585,
          "hgvs_c": "c.2877A>T",
          "hgvs_p": "p.Gln959His",
          "transcript": "ENST00000915106.1",
          "protein_id": "ENSP00000585165.1",
          "transcript_support_level": null,
          "aa_start": 959,
          "aa_end": null,
          "aa_length": 1438,
          "cds_start": 2877,
          "cds_end": null,
          "cds_length": 4317,
          "cdna_start": 3082,
          "cdna_end": null,
          "cdna_length": 5190,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000915106.1"
        },
        {
          "aa_ref": "Q",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 44,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCD2",
          "gene_hgnc_id": 3585,
          "hgvs_c": "c.2877A>T",
          "hgvs_p": "p.Gln959His",
          "transcript": "ENST00000915108.1",
          "protein_id": "ENSP00000585167.1",
          "transcript_support_level": null,
          "aa_start": 959,
          "aa_end": null,
          "aa_length": 1431,
          "cds_start": 2877,
          "cds_end": null,
          "cds_length": 4296,
          "cdna_start": 3078,
          "cdna_end": null,
          "cdna_length": 5161,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000915108.1"
        },
        {
          "aa_ref": "Q",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 44,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCD2",
          "gene_hgnc_id": 3585,
          "hgvs_c": "c.2793A>T",
          "hgvs_p": "p.Gln931His",
          "transcript": "ENST00000915110.1",
          "protein_id": "ENSP00000585169.1",
          "transcript_support_level": null,
          "aa_start": 931,
          "aa_end": null,
          "aa_length": 1423,
          "cds_start": 2793,
          "cds_end": null,
          "cds_length": 4272,
          "cdna_start": 2988,
          "cdna_end": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "Q",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 29,
          "exon_rank_end": null,
          "exon_count": 43,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCD2",
          "gene_hgnc_id": 3585,
          "hgvs_c": "c.2766A>T",
          "hgvs_p": "p.Gln922His",
          "transcript": "NM_001374253.1",
          "protein_id": "NP_001361182.1",
          "transcript_support_level": null,
          "aa_start": 922,
          "aa_end": null,
          "aa_length": 1414,
          "cds_start": 2766,
          "cds_end": null,
          "cds_length": 4245,
          "cdna_start": 2836,
          "cdna_end": null,
          "cdna_length": 4985,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001374253.1"
        },
        {
          "aa_ref": "Q",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 29,
          "exon_rank_end": null,
          "exon_count": 43,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCD2",
          "gene_hgnc_id": 3585,
          "hgvs_c": "c.2766A>T",
          "hgvs_p": "p.Gln922His",
          "transcript": "ENST00000915109.1",
          "protein_id": "ENSP00000585168.1",
          "transcript_support_level": null,
          "aa_start": 922,
          "aa_end": null,
          "aa_length": 1414,
          "cds_start": 2766,
          "cds_end": null,
          "cds_length": 4245,
          "cdna_start": 2967,
          "cdna_end": null,
          "cdna_length": 5108,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000915109.1"
        },
        {
          "aa_ref": "Q",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 29,
          "exon_rank_end": null,
          "exon_count": 43,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "FANCD2",
          "gene_hgnc_id": 3585,
          "hgvs_c": "c.2766A>T",
          "hgvs_p": "p.Gln922His",
          "transcript": "ENST00000676013.1",
          "protein_id": "ENSP00000501999.1",
          "transcript_support_level": null,
          "aa_start": 922,
          "aa_end": null,
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}
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.