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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: 1-2562891-G-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=2562891&ref=G&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "1",
      "pos": 2562891,
      "ref": "G",
      "alt": "T",
      "effect": "missense_variant",
      "transcript": "NM_003820.4",
      "consequences": [
        {
          "aa_ref": "V",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TNFRSF14",
          "gene_hgnc_id": 11912,
          "hgvs_c": "c.721G>T",
          "hgvs_p": "p.Val241Phe",
          "transcript": "NM_003820.4",
          "protein_id": "NP_003811.2",
          "transcript_support_level": null,
          "aa_start": 241,
          "aa_end": null,
          "aa_length": 283,
          "cds_start": 721,
          "cds_end": null,
          "cds_length": 852,
          "cdna_start": 1015,
          "cdna_end": null,
          "cdna_length": 1702,
          "mane_select": "ENST00000355716.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_003820.4"
        },
        {
          "aa_ref": "V",
          "aa_alt": "F",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TNFRSF14",
          "gene_hgnc_id": 11912,
          "hgvs_c": "c.721G>T",
          "hgvs_p": "p.Val241Phe",
          "transcript": "ENST00000355716.5",
          "protein_id": "ENSP00000347948.4",
          "transcript_support_level": 1,
          "aa_start": 241,
          "aa_end": null,
          "aa_length": 283,
          "cds_start": 721,
          "cds_end": null,
          "cds_length": 852,
          "cdna_start": 1015,
          "cdna_end": null,
          "cdna_length": 1702,
          "mane_select": "NM_003820.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000355716.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TNFRSF14",
          "gene_hgnc_id": 11912,
          "hgvs_c": "n.958G>T",
          "hgvs_p": null,
          "transcript": "ENST00000475523.5",
          "protein_id": null,
          "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": 1645,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "retained_intron",
          "feature": "ENST00000475523.5"
        },
        {
          "aa_ref": "V",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TNFRSF14",
          "gene_hgnc_id": 11912,
          "hgvs_c": "c.985G>T",
          "hgvs_p": "p.Val329Phe",
          "transcript": "ENST00000860787.1",
          "protein_id": "ENSP00000530846.1",
          "transcript_support_level": null,
          "aa_start": 329,
          "aa_end": null,
          "aa_length": 371,
          "cds_start": 985,
          "cds_end": null,
          "cds_length": 1116,
          "cdna_start": 1279,
          "cdna_end": null,
          "cdna_length": 1963,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000860787.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TNFRSF14",
          "gene_hgnc_id": 11912,
          "hgvs_c": "c.940G>T",
          "hgvs_p": "p.Val314Phe",
          "transcript": "ENST00000860789.1",
          "protein_id": "ENSP00000530848.1",
          "transcript_support_level": null,
          "aa_start": 314,
          "aa_end": null,
          "aa_length": 356,
          "cds_start": 940,
          "cds_end": null,
          "cds_length": 1071,
          "cdna_start": 1206,
          "cdna_end": null,
          "cdna_length": 1811,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000860789.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TNFRSF14",
          "gene_hgnc_id": 11912,
          "hgvs_c": "c.814G>T",
          "hgvs_p": "p.Val272Phe",
          "transcript": "ENST00000860790.1",
          "protein_id": "ENSP00000530849.1",
          "transcript_support_level": null,
          "aa_start": 272,
          "aa_end": null,
          "aa_length": 314,
          "cds_start": 814,
          "cds_end": null,
          "cds_length": 945,
          "cdna_start": 1084,
          "cdna_end": null,
          "cdna_length": 1683,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000860790.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TNFRSF14",
          "gene_hgnc_id": 11912,
          "hgvs_c": "c.742G>T",
          "hgvs_p": "p.Val248Phe",
          "transcript": "ENST00000860791.1",
          "protein_id": "ENSP00000530850.1",
          "transcript_support_level": null,
          "aa_start": 248,
          "aa_end": null,
          "aa_length": 290,
          "cds_start": 742,
          "cds_end": null,
          "cds_length": 873,
          "cdna_start": 867,
          "cdna_end": null,
          "cdna_length": 1474,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000860791.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TNFRSF14",
          "gene_hgnc_id": 11912,
          "hgvs_c": "c.721G>T",
          "hgvs_p": "p.Val241Phe",
          "transcript": "ENST00000860781.1",
          "protein_id": "ENSP00000530840.1",
          "transcript_support_level": null,
          "aa_start": 241,
          "aa_end": null,
          "aa_length": 283,
          "cds_start": 721,
          "cds_end": null,
          "cds_length": 852,
          "cdna_start": 929,
          "cdna_end": null,
          "cdna_length": 1875,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000860781.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TNFRSF14",
          "gene_hgnc_id": 11912,
          "hgvs_c": "c.721G>T",
          "hgvs_p": "p.Val241Phe",
          "transcript": "ENST00000860782.1",
          "protein_id": "ENSP00000530841.1",
          "transcript_support_level": null,
          "aa_start": 241,
          "aa_end": null,
          "aa_length": 283,
          "cds_start": 721,
          "cds_end": null,
          "cds_length": 852,
          "cdna_start": 870,
          "cdna_end": null,
          "cdna_length": 1557,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000860782.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TNFRSF14",
          "gene_hgnc_id": 11912,
          "hgvs_c": "c.721G>T",
          "hgvs_p": "p.Val241Phe",
          "transcript": "ENST00000860783.1",
          "protein_id": "ENSP00000530842.1",
          "transcript_support_level": null,
          "aa_start": 241,
          "aa_end": null,
          "aa_length": 283,
          "cds_start": 721,
          "cds_end": null,
          "cds_length": 852,
          "cdna_start": 945,
          "cdna_end": null,
          "cdna_length": 1632,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000860783.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TNFRSF14",
          "gene_hgnc_id": 11912,
          "hgvs_c": "c.721G>T",
          "hgvs_p": "p.Val241Phe",
          "transcript": "ENST00000860784.1",
          "protein_id": "ENSP00000530843.1",
          "transcript_support_level": null,
          "aa_start": 241,
          "aa_end": null,
          "aa_length": 283,
          "cds_start": 721,
          "cds_end": null,
          "cds_length": 852,
          "cdna_start": 860,
          "cdna_end": null,
          "cdna_length": 1544,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000860784.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TNFRSF14",
          "gene_hgnc_id": 11912,
          "hgvs_c": "c.721G>T",
          "hgvs_p": "p.Val241Phe",
          "transcript": "ENST00000860786.1",
          "protein_id": "ENSP00000530845.1",
          "transcript_support_level": null,
          "aa_start": 241,
          "aa_end": null,
          "aa_length": 283,
          "cds_start": 721,
          "cds_end": null,
          "cds_length": 852,
          "cdna_start": 1239,
          "cdna_end": null,
          "cdna_length": 1930,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000860786.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TNFRSF14",
          "gene_hgnc_id": 11912,
          "hgvs_c": "c.721G>T",
          "hgvs_p": "p.Val241Phe",
          "transcript": "ENST00000972443.1",
          "protein_id": "ENSP00000642502.1",
          "transcript_support_level": null,
          "aa_start": 241,
          "aa_end": null,
          "aa_length": 283,
          "cds_start": 721,
          "cds_end": null,
          "cds_length": 852,
          "cdna_start": 849,
          "cdna_end": null,
          "cdna_length": 1533,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000972443.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TNFRSF14",
          "gene_hgnc_id": 11912,
          "hgvs_c": "c.715G>T",
          "hgvs_p": "p.Val239Phe",
          "transcript": "ENST00000860788.1",
          "protein_id": "ENSP00000530847.1",
          "transcript_support_level": null,
          "aa_start": 239,
          "aa_end": null,
          "aa_length": 281,
          "cds_start": 715,
          "cds_end": null,
          "cds_length": 846,
          "cdna_start": 1007,
          "cdna_end": null,
          "cdna_length": 1691,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000860788.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "F",
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          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
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          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TNFRSF14",
          "gene_hgnc_id": 11912,
          "hgvs_c": "c.721G>T",
          "hgvs_p": "p.Val241Phe",
          "transcript": "ENST00000972446.1",
          "protein_id": "ENSP00000642505.1",
          "transcript_support_level": null,
          "aa_start": 241,
          "aa_end": null,
          "aa_length": 269,
          "cds_start": 721,
          "cds_end": null,
          "cds_length": 810,
          "cdna_start": 817,
          "cdna_end": null,
          "cdna_length": 1459,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000972446.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TNFRSF14",
          "gene_hgnc_id": 11912,
          "hgvs_c": "c.721G>T",
          "hgvs_p": "p.Val241Phe",
          "transcript": "ENST00000972444.1",
          "protein_id": "ENSP00000642503.1",
          "transcript_support_level": null,
          "aa_start": 241,
          "aa_end": null,
          "aa_length": 266,
          "cds_start": 721,
          "cds_end": null,
          "cds_length": 801,
          "cdna_start": 994,
          "cdna_end": null,
          "cdna_length": 1549,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000972444.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TNFRSF14",
          "gene_hgnc_id": 11912,
          "hgvs_c": "c.658G>T",
          "hgvs_p": "p.Val220Phe",
          "transcript": "ENST00000860785.1",
          "protein_id": "ENSP00000530844.1",
          "transcript_support_level": null,
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          "aa_end": null,
          "aa_length": 262,
          "cds_start": 658,
          "cds_end": null,
          "cds_length": 789,
          "cdna_start": 785,
          "cdna_end": null,
          "cdna_length": 1477,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000860785.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TNFRSF14",
          "gene_hgnc_id": 11912,
          "hgvs_c": "c.721G>T",
          "hgvs_p": "p.Val241Phe",
          "transcript": "XM_047433412.1",
          "protein_id": "XP_047289368.1",
          "transcript_support_level": null,
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          "aa_end": null,
          "aa_length": 283,
          "cds_start": 721,
          "cds_end": null,
          "cds_length": 852,
          "cdna_start": 1253,
          "cdna_end": null,
          "cdna_length": 1940,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047433412.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TNFRSF14",
          "gene_hgnc_id": 11912,
          "hgvs_c": "c.721G>T",
          "hgvs_p": "p.Val241Phe",
          "transcript": "XM_047433413.1",
          "protein_id": "XP_047289369.1",
          "transcript_support_level": null,
          "aa_start": 241,
          "aa_end": null,
          "aa_length": 283,
          "cds_start": 721,
          "cds_end": null,
          "cds_length": 852,
          "cdna_start": 851,
          "cdna_end": null,
          "cdna_length": 1538,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047433413.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TNFRSF14",
          "gene_hgnc_id": 11912,
          "hgvs_c": "c.721G>T",
          "hgvs_p": "p.Val241Phe",
          "transcript": "XM_047433414.1",
          "protein_id": "XP_047289370.1",
          "transcript_support_level": null,
          "aa_start": 241,
          "aa_end": null,
          "aa_length": 283,
          "cds_start": 721,
          "cds_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.