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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: 5-178215286-C-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=178215286&ref=C&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "5",
      "pos": 178215286,
      "ref": "C",
      "alt": "A",
      "effect": "missense_variant",
      "transcript": "NM_153373.4",
      "consequences": [
        {
          "aa_ref": "G",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PHYKPL",
          "gene_hgnc_id": 28249,
          "hgvs_c": "c.1072G>T",
          "hgvs_p": "p.Gly358Trp",
          "transcript": "NM_153373.4",
          "protein_id": "NP_699204.1",
          "transcript_support_level": null,
          "aa_start": 358,
          "aa_end": null,
          "aa_length": 450,
          "cds_start": 1072,
          "cds_end": null,
          "cds_length": 1353,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000308158.10",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_153373.4"
        },
        {
          "aa_ref": "G",
          "aa_alt": "W",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PHYKPL",
          "gene_hgnc_id": 28249,
          "hgvs_c": "c.1072G>T",
          "hgvs_p": "p.Gly358Trp",
          "transcript": "ENST00000308158.10",
          "protein_id": "ENSP00000310978.5",
          "transcript_support_level": 1,
          "aa_start": 358,
          "aa_end": null,
          "aa_length": 450,
          "cds_start": 1072,
          "cds_end": null,
          "cds_length": 1353,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_153373.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000308158.10"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PHYKPL",
          "gene_hgnc_id": 28249,
          "hgvs_c": "n.*460G>T",
          "hgvs_p": null,
          "transcript": "ENST00000474052.5",
          "protein_id": "ENSP00000423806.1",
          "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": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000474052.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PHYKPL",
          "gene_hgnc_id": 28249,
          "hgvs_c": "n.*460G>T",
          "hgvs_p": null,
          "transcript": "ENST00000474052.5",
          "protein_id": "ENSP00000423806.1",
          "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": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000474052.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "PHYKPL",
          "gene_hgnc_id": 28249,
          "hgvs_c": "n.1855-401G>T",
          "hgvs_p": null,
          "transcript": "ENST00000494126.6",
          "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": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "retained_intron",
          "feature": "ENST00000494126.6"
        },
        {
          "aa_ref": "G",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PHYKPL",
          "gene_hgnc_id": 28249,
          "hgvs_c": "c.1228G>T",
          "hgvs_p": "p.Gly410Trp",
          "transcript": "ENST00000962530.1",
          "protein_id": "ENSP00000632589.1",
          "transcript_support_level": null,
          "aa_start": 410,
          "aa_end": null,
          "aa_length": 502,
          "cds_start": 1228,
          "cds_end": null,
          "cds_length": 1509,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000962530.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PHYKPL",
          "gene_hgnc_id": 28249,
          "hgvs_c": "c.1114G>T",
          "hgvs_p": "p.Gly372Trp",
          "transcript": "ENST00000323594.9",
          "protein_id": "ENSP00000321290.5",
          "transcript_support_level": 5,
          "aa_start": 372,
          "aa_end": null,
          "aa_length": 464,
          "cds_start": 1114,
          "cds_end": null,
          "cds_length": 1395,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000323594.9"
        },
        {
          "aa_ref": "G",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PHYKPL",
          "gene_hgnc_id": 28249,
          "hgvs_c": "c.1105G>T",
          "hgvs_p": "p.Gly369Trp",
          "transcript": "ENST00000885009.1",
          "protein_id": "ENSP00000555068.1",
          "transcript_support_level": null,
          "aa_start": 369,
          "aa_end": null,
          "aa_length": 461,
          "cds_start": 1105,
          "cds_end": null,
          "cds_length": 1386,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000885009.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PHYKPL",
          "gene_hgnc_id": 28249,
          "hgvs_c": "c.1102G>T",
          "hgvs_p": "p.Gly368Trp",
          "transcript": "ENST00000884991.1",
          "protein_id": "ENSP00000555050.1",
          "transcript_support_level": null,
          "aa_start": 368,
          "aa_end": null,
          "aa_length": 460,
          "cds_start": 1102,
          "cds_end": null,
          "cds_length": 1383,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000884991.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PHYKPL",
          "gene_hgnc_id": 28249,
          "hgvs_c": "c.1072G>T",
          "hgvs_p": "p.Gly358Trp",
          "transcript": "ENST00000885007.1",
          "protein_id": "ENSP00000555066.1",
          "transcript_support_level": null,
          "aa_start": 358,
          "aa_end": null,
          "aa_length": 460,
          "cds_start": 1072,
          "cds_end": null,
          "cds_length": 1383,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000885007.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PHYKPL",
          "gene_hgnc_id": 28249,
          "hgvs_c": "c.1102G>T",
          "hgvs_p": "p.Gly368Trp",
          "transcript": "ENST00000962531.1",
          "protein_id": "ENSP00000632590.1",
          "transcript_support_level": null,
          "aa_start": 368,
          "aa_end": null,
          "aa_length": 460,
          "cds_start": 1102,
          "cds_end": null,
          "cds_length": 1383,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000962531.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PHYKPL",
          "gene_hgnc_id": 28249,
          "hgvs_c": "c.1090G>T",
          "hgvs_p": "p.Gly364Trp",
          "transcript": "ENST00000884994.1",
          "protein_id": "ENSP00000555052.1",
          "transcript_support_level": null,
          "aa_start": 364,
          "aa_end": null,
          "aa_length": 456,
          "cds_start": 1090,
          "cds_end": null,
          "cds_length": 1371,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000884994.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PHYKPL",
          "gene_hgnc_id": 28249,
          "hgvs_c": "c.1072G>T",
          "hgvs_p": "p.Gly358Trp",
          "transcript": "ENST00000884993.1",
          "protein_id": "ENSP00000555051.1",
          "transcript_support_level": null,
          "aa_start": 358,
          "aa_end": null,
          "aa_length": 450,
          "cds_start": 1072,
          "cds_end": null,
          "cds_length": 1353,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000884993.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PHYKPL",
          "gene_hgnc_id": 28249,
          "hgvs_c": "c.1072G>T",
          "hgvs_p": "p.Gly358Trp",
          "transcript": "ENST00000885004.1",
          "protein_id": "ENSP00000555062.1",
          "transcript_support_level": null,
          "aa_start": 358,
          "aa_end": null,
          "aa_length": 450,
          "cds_start": 1072,
          "cds_end": null,
          "cds_length": 1353,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000885004.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PHYKPL",
          "gene_hgnc_id": 28249,
          "hgvs_c": "c.1072G>T",
          "hgvs_p": "p.Gly358Trp",
          "transcript": "ENST00000885014.1",
          "protein_id": "ENSP00000555073.1",
          "transcript_support_level": null,
          "aa_start": 358,
          "aa_end": null,
          "aa_length": 450,
          "cds_start": 1072,
          "cds_end": null,
          "cds_length": 1353,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000885014.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PHYKPL",
          "gene_hgnc_id": 28249,
          "hgvs_c": "c.1072G>T",
          "hgvs_p": "p.Gly358Trp",
          "transcript": "ENST00000885015.1",
          "protein_id": "ENSP00000555074.1",
          "transcript_support_level": null,
          "aa_start": 358,
          "aa_end": null,
          "aa_length": 450,
          "cds_start": 1072,
          "cds_end": null,
          "cds_length": 1353,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000885015.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PHYKPL",
          "gene_hgnc_id": 28249,
          "hgvs_c": "c.1072G>T",
          "hgvs_p": "p.Gly358Trp",
          "transcript": "ENST00000962523.1",
          "protein_id": "ENSP00000632582.1",
          "transcript_support_level": null,
          "aa_start": 358,
          "aa_end": null,
          "aa_length": 450,
          "cds_start": 1072,
          "cds_end": null,
          "cds_length": 1353,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000962523.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PHYKPL",
          "gene_hgnc_id": 28249,
          "hgvs_c": "c.1072G>T",
          "hgvs_p": "p.Gly358Trp",
          "transcript": "ENST00000962524.1",
          "protein_id": "ENSP00000632583.1",
          "transcript_support_level": null,
          "aa_start": 358,
          "aa_end": null,
          "aa_length": 450,
          "cds_start": 1072,
          "cds_end": null,
          "cds_length": 1353,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000962524.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PHYKPL",
          "gene_hgnc_id": 28249,
          "hgvs_c": "c.1069G>T",
          "hgvs_p": "p.Gly357Trp",
          "transcript": "ENST00000962527.1",
          "protein_id": "ENSP00000632586.1",
          "transcript_support_level": null,
          "aa_start": 357,
          "aa_end": null,
          "aa_length": 449,
          "cds_start": 1069,
          "cds_end": null,
          "cds_length": 1350,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000962527.1"
        },
        {
          "aa_ref": "G",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "PHYKPL",
          "gene_hgnc_id": 28249,
          "hgvs_c": "c.1072G>T",
          "hgvs_p": "p.Gly358Trp",
          "transcript": "ENST00000884998.1",
          "protein_id": "ENSP00000555057.1",
          "transcript_support_level": null,
          "aa_start": 358,
          "aa_end": null,
          "aa_length": 443,
          "cds_start": 1072,
          "cds_end": null,
          "cds_length": 1332,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
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}