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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: 19-41302893-G-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=41302893&ref=G&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "19",
      "pos": 41302893,
      "ref": "G",
      "alt": "T",
      "effect": "missense_variant",
      "transcript": "NM_001439168.1",
      "consequences": [
        {
          "aa_ref": "R",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HNRNPUL1",
          "gene_hgnc_id": 17011,
          "hgvs_c": "c.1916G>T",
          "hgvs_p": "p.Arg639Leu",
          "transcript": "NM_007040.6",
          "protein_id": "NP_008971.2",
          "transcript_support_level": null,
          "aa_start": 639,
          "aa_end": null,
          "aa_length": 856,
          "cds_start": 1916,
          "cds_end": null,
          "cds_length": 2571,
          "cdna_start": 2048,
          "cdna_end": null,
          "cdna_length": 3925,
          "mane_select": "ENST00000392006.8",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_007040.6"
        },
        {
          "aa_ref": "R",
          "aa_alt": "L",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HNRNPUL1",
          "gene_hgnc_id": 17011,
          "hgvs_c": "c.1916G>T",
          "hgvs_p": "p.Arg639Leu",
          "transcript": "ENST00000392006.8",
          "protein_id": "ENSP00000375863.2",
          "transcript_support_level": 1,
          "aa_start": 639,
          "aa_end": null,
          "aa_length": 856,
          "cds_start": 1916,
          "cds_end": null,
          "cds_length": 2571,
          "cdna_start": 2048,
          "cdna_end": null,
          "cdna_length": 3925,
          "mane_select": "NM_007040.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000392006.8"
        },
        {
          "aa_ref": "R",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HNRNPUL1",
          "gene_hgnc_id": 17011,
          "hgvs_c": "c.1916G>T",
          "hgvs_p": "p.Arg639Leu",
          "transcript": "ENST00000602130.5",
          "protein_id": "ENSP00000470687.1",
          "transcript_support_level": 1,
          "aa_start": 639,
          "aa_end": null,
          "aa_length": 804,
          "cds_start": 1916,
          "cds_end": null,
          "cds_length": 2415,
          "cdna_start": 1969,
          "cdna_end": null,
          "cdna_length": 2932,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000602130.5"
        },
        {
          "aa_ref": "R",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HNRNPUL1",
          "gene_hgnc_id": 17011,
          "hgvs_c": "c.1616G>T",
          "hgvs_p": "p.Arg539Leu",
          "transcript": "ENST00000352456.7",
          "protein_id": "ENSP00000340857.3",
          "transcript_support_level": 1,
          "aa_start": 539,
          "aa_end": null,
          "aa_length": 766,
          "cds_start": 1616,
          "cds_end": null,
          "cds_length": 2301,
          "cdna_start": 1708,
          "cdna_end": null,
          "cdna_length": 3426,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000352456.7"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HNRNPUL1",
          "gene_hgnc_id": 17011,
          "hgvs_c": "n.*1492G>T",
          "hgvs_p": null,
          "transcript": "ENST00000595196.5",
          "protein_id": "ENSP00000472315.1",
          "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": 3043,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000595196.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HNRNPUL1",
          "gene_hgnc_id": 17011,
          "hgvs_c": "n.*1492G>T",
          "hgvs_p": null,
          "transcript": "ENST00000595196.5",
          "protein_id": "ENSP00000472315.1",
          "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": 3043,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000595196.5"
        },
        {
          "aa_ref": "R",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HNRNPUL1",
          "gene_hgnc_id": 17011,
          "hgvs_c": "c.1916G>T",
          "hgvs_p": "p.Arg639Leu",
          "transcript": "NM_001439168.1",
          "protein_id": "NP_001426097.1",
          "transcript_support_level": null,
          "aa_start": 639,
          "aa_end": null,
          "aa_length": 866,
          "cds_start": 1916,
          "cds_end": null,
          "cds_length": 2601,
          "cdna_start": 2048,
          "cdna_end": null,
          "cdna_length": 3955,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001439168.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HNRNPUL1",
          "gene_hgnc_id": 17011,
          "hgvs_c": "c.1916G>T",
          "hgvs_p": "p.Arg639Leu",
          "transcript": "ENST00000851914.1",
          "protein_id": "ENSP00000521973.1",
          "transcript_support_level": null,
          "aa_start": 639,
          "aa_end": null,
          "aa_length": 856,
          "cds_start": 1916,
          "cds_end": null,
          "cds_length": 2571,
          "cdna_start": 2017,
          "cdna_end": null,
          "cdna_length": 3781,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000851914.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HNRNPUL1",
          "gene_hgnc_id": 17011,
          "hgvs_c": "c.1916G>T",
          "hgvs_p": "p.Arg639Leu",
          "transcript": "NM_001439167.1",
          "protein_id": "NP_001426096.1",
          "transcript_support_level": null,
          "aa_start": 639,
          "aa_end": null,
          "aa_length": 804,
          "cds_start": 1916,
          "cds_end": null,
          "cds_length": 2415,
          "cdna_start": 2048,
          "cdna_end": null,
          "cdna_length": 3769,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001439167.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HNRNPUL1",
          "gene_hgnc_id": 17011,
          "hgvs_c": "c.1916G>T",
          "hgvs_p": "p.Arg639Leu",
          "transcript": "NM_001439169.1",
          "protein_id": "NP_001426098.1",
          "transcript_support_level": null,
          "aa_start": 639,
          "aa_end": null,
          "aa_length": 792,
          "cds_start": 1916,
          "cds_end": null,
          "cds_length": 2379,
          "cdna_start": 2048,
          "cdna_end": null,
          "cdna_length": 3733,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001439169.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HNRNPUL1",
          "gene_hgnc_id": 17011,
          "hgvs_c": "c.1649G>T",
          "hgvs_p": "p.Arg550Leu",
          "transcript": "NM_001439170.1",
          "protein_id": "NP_001426099.1",
          "transcript_support_level": null,
          "aa_start": 550,
          "aa_end": null,
          "aa_length": 777,
          "cds_start": 1649,
          "cds_end": null,
          "cds_length": 2334,
          "cdna_start": 1884,
          "cdna_end": null,
          "cdna_length": 3791,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001439170.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HNRNPUL1",
          "gene_hgnc_id": 17011,
          "hgvs_c": "c.1649G>T",
          "hgvs_p": "p.Arg550Leu",
          "transcript": "NM_001301016.3",
          "protein_id": "NP_001287945.1",
          "transcript_support_level": null,
          "aa_start": 550,
          "aa_end": null,
          "aa_length": 767,
          "cds_start": 1649,
          "cds_end": null,
          "cds_length": 2304,
          "cdna_start": 1884,
          "cdna_end": null,
          "cdna_length": 3761,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "NM_001301016.3"
        },
        {
          "aa_ref": "R",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HNRNPUL1",
          "gene_hgnc_id": 17011,
          "hgvs_c": "c.1649G>T",
          "hgvs_p": "p.Arg550Leu",
          "transcript": "ENST00000263367.7",
          "protein_id": "ENSP00000263367.3",
          "transcript_support_level": 2,
          "aa_start": 550,
          "aa_end": null,
          "aa_length": 767,
          "cds_start": 1649,
          "cds_end": null,
          "cds_length": 2304,
          "cdna_start": 1843,
          "cdna_end": null,
          "cdna_length": 2952,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000263367.7"
        },
        {
          "aa_ref": "R",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HNRNPUL1",
          "gene_hgnc_id": 17011,
          "hgvs_c": "c.1616G>T",
          "hgvs_p": "p.Arg539Leu",
          "transcript": "NM_001439171.1",
          "protein_id": "NP_001426100.1",
          "transcript_support_level": null,
          "aa_start": 539,
          "aa_end": null,
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          "cds_start": 1616,
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          "cdna_start": 1942,
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          "biotype": "protein_coding",
          "feature": "NM_001439171.1"
        },
        {
          "aa_ref": "R",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HNRNPUL1",
          "gene_hgnc_id": 17011,
          "hgvs_c": "c.1616G>T",
          "hgvs_p": "p.Arg539Leu",
          "transcript": "NM_001439172.1",
          "protein_id": "NP_001426101.1",
          "transcript_support_level": null,
          "aa_start": 539,
          "aa_end": null,
          "aa_length": 766,
          "cds_start": 1616,
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          "cds_length": 2301,
          "cdna_start": 1647,
          "cdna_end": null,
          "cdna_length": 3554,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001439172.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HNRNPUL1",
          "gene_hgnc_id": 17011,
          "hgvs_c": "c.1616G>T",
          "hgvs_p": "p.Arg539Leu",
          "transcript": "NM_001439173.1",
          "protein_id": "NP_001426102.1",
          "transcript_support_level": null,
          "aa_start": 539,
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          "aa_length": 766,
          "cds_start": 1616,
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          "cds_length": 2301,
          "cdna_start": 1662,
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          "cdna_length": 3569,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "NM_001439173.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HNRNPUL1",
          "gene_hgnc_id": 17011,
          "hgvs_c": "c.1616G>T",
          "hgvs_p": "p.Arg539Leu",
          "transcript": "NM_001321208.2",
          "protein_id": "NP_001308137.1",
          "transcript_support_level": null,
          "aa_start": 539,
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          "cds_start": 1616,
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          "cdna_start": 1942,
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          "biotype": "protein_coding",
          "feature": "NM_001321208.2"
        },
        {
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          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
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          "gene_symbol": "HNRNPUL1",
          "gene_hgnc_id": 17011,
          "hgvs_c": "c.1616G>T",
          "hgvs_p": "p.Arg539Leu",
          "transcript": "NM_001321211.2",
          "protein_id": "NP_001308140.1",
          "transcript_support_level": null,
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          "biotype": "protein_coding",
          "feature": "NM_001321211.2"
        },
        {
          "aa_ref": "R",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
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          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HNRNPUL1",
          "gene_hgnc_id": 17011,
          "hgvs_c": "c.1616G>T",
          "hgvs_p": "p.Arg539Leu",
          "transcript": "NM_001439177.1",
          "protein_id": "NP_001426106.1",
          "transcript_support_level": null,
          "aa_start": 539,
          "aa_end": null,
          "aa_length": 756,
          "cds_start": 1616,
          "cds_end": null,
          "cds_length": 2271,
          "cdna_start": 1662,
          "cdna_end": null,
          "cdna_length": 3539,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001439177.1"
        },
        {
          "aa_ref": "R",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "HNRNPUL1",
          "gene_hgnc_id": 17011,
          "hgvs_c": "c.1616G>T",
          "hgvs_p": "p.Arg539Leu",
          "transcript": "NM_144732.5",
          "protein_id": "NP_653333.1",
          "transcript_support_level": null,
          "aa_start": 539,
          "aa_end": null,
          "aa_length": 756,
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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.