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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: 18-23612123-T-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=23612123&ref=T&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "18",
      "pos": 23612123,
      "ref": "T",
      "alt": "G",
      "effect": "missense_variant",
      "transcript": "NM_173505.4",
      "consequences": [
        {
          "aa_ref": "E",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANKRD29",
          "gene_hgnc_id": 27110,
          "hgvs_c": "c.791A>C",
          "hgvs_p": "p.Glu264Ala",
          "transcript": "NM_173505.4",
          "protein_id": "NP_775776.2",
          "transcript_support_level": null,
          "aa_start": 264,
          "aa_end": null,
          "aa_length": 301,
          "cds_start": 791,
          "cds_end": null,
          "cds_length": 906,
          "cdna_start": 972,
          "cdna_end": null,
          "cdna_length": 3387,
          "mane_select": "ENST00000592179.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_173505.4"
        },
        {
          "aa_ref": "E",
          "aa_alt": "A",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANKRD29",
          "gene_hgnc_id": 27110,
          "hgvs_c": "c.791A>C",
          "hgvs_p": "p.Glu264Ala",
          "transcript": "ENST00000592179.6",
          "protein_id": "ENSP00000468354.1",
          "transcript_support_level": 1,
          "aa_start": 264,
          "aa_end": null,
          "aa_length": 301,
          "cds_start": 791,
          "cds_end": null,
          "cds_length": 906,
          "cdna_start": 972,
          "cdna_end": null,
          "cdna_length": 3387,
          "mane_select": "NM_173505.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000592179.6"
        },
        {
          "aa_ref": "E",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANKRD29",
          "gene_hgnc_id": 27110,
          "hgvs_c": "c.695A>C",
          "hgvs_p": "p.Glu232Ala",
          "transcript": "ENST00000965701.1",
          "protein_id": "ENSP00000635760.1",
          "transcript_support_level": null,
          "aa_start": 232,
          "aa_end": null,
          "aa_length": 269,
          "cds_start": 695,
          "cds_end": null,
          "cds_length": 810,
          "cdna_start": 751,
          "cdna_end": null,
          "cdna_length": 3161,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000965701.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANKRD29",
          "gene_hgnc_id": 27110,
          "hgvs_c": "c.692A>C",
          "hgvs_p": "p.Glu231Ala",
          "transcript": "ENST00000863695.1",
          "protein_id": "ENSP00000533754.1",
          "transcript_support_level": null,
          "aa_start": 231,
          "aa_end": null,
          "aa_length": 268,
          "cds_start": 692,
          "cds_end": null,
          "cds_length": 807,
          "cdna_start": 1050,
          "cdna_end": null,
          "cdna_length": 3465,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000863695.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANKRD29",
          "gene_hgnc_id": 27110,
          "hgvs_c": "c.692A>C",
          "hgvs_p": "p.Glu231Ala",
          "transcript": "ENST00000863696.1",
          "protein_id": "ENSP00000533755.1",
          "transcript_support_level": null,
          "aa_start": 231,
          "aa_end": null,
          "aa_length": 268,
          "cds_start": 692,
          "cds_end": null,
          "cds_length": 807,
          "cdna_start": 1039,
          "cdna_end": null,
          "cdna_length": 3454,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000863696.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANKRD29",
          "gene_hgnc_id": 27110,
          "hgvs_c": "c.692A>C",
          "hgvs_p": "p.Glu231Ala",
          "transcript": "ENST00000863698.1",
          "protein_id": "ENSP00000533757.1",
          "transcript_support_level": null,
          "aa_start": 231,
          "aa_end": null,
          "aa_length": 268,
          "cds_start": 692,
          "cds_end": null,
          "cds_length": 807,
          "cdna_start": 885,
          "cdna_end": null,
          "cdna_length": 3300,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000863698.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANKRD29",
          "gene_hgnc_id": 27110,
          "hgvs_c": "c.692A>C",
          "hgvs_p": "p.Glu231Ala",
          "transcript": "ENST00000863700.1",
          "protein_id": "ENSP00000533759.1",
          "transcript_support_level": null,
          "aa_start": 231,
          "aa_end": null,
          "aa_length": 268,
          "cds_start": 692,
          "cds_end": null,
          "cds_length": 807,
          "cdna_start": 873,
          "cdna_end": null,
          "cdna_length": 3285,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000863700.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANKRD29",
          "gene_hgnc_id": 27110,
          "hgvs_c": "c.680A>C",
          "hgvs_p": "p.Glu227Ala",
          "transcript": "ENST00000863697.1",
          "protein_id": "ENSP00000533756.1",
          "transcript_support_level": null,
          "aa_start": 227,
          "aa_end": null,
          "aa_length": 264,
          "cds_start": 680,
          "cds_end": null,
          "cds_length": 795,
          "cdna_start": 884,
          "cdna_end": null,
          "cdna_length": 3299,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000863697.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANKRD29",
          "gene_hgnc_id": 27110,
          "hgvs_c": "c.593A>C",
          "hgvs_p": "p.Glu198Ala",
          "transcript": "ENST00000965698.1",
          "protein_id": "ENSP00000635757.1",
          "transcript_support_level": null,
          "aa_start": 198,
          "aa_end": null,
          "aa_length": 235,
          "cds_start": 593,
          "cds_end": null,
          "cds_length": 708,
          "cdna_start": 773,
          "cdna_end": null,
          "cdna_length": 3187,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000965698.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANKRD29",
          "gene_hgnc_id": 27110,
          "hgvs_c": "c.593A>C",
          "hgvs_p": "p.Glu198Ala",
          "transcript": "ENST00000965700.1",
          "protein_id": "ENSP00000635759.1",
          "transcript_support_level": null,
          "aa_start": 198,
          "aa_end": null,
          "aa_length": 235,
          "cds_start": 593,
          "cds_end": null,
          "cds_length": 708,
          "cdna_start": 667,
          "cdna_end": null,
          "cdna_length": 3079,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000965700.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANKRD29",
          "gene_hgnc_id": 27110,
          "hgvs_c": "c.494A>C",
          "hgvs_p": "p.Glu165Ala",
          "transcript": "ENST00000863702.1",
          "protein_id": "ENSP00000533761.1",
          "transcript_support_level": null,
          "aa_start": 165,
          "aa_end": null,
          "aa_length": 202,
          "cds_start": 494,
          "cds_end": null,
          "cds_length": 609,
          "cdna_start": 662,
          "cdna_end": null,
          "cdna_length": 3076,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000863702.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANKRD29",
          "gene_hgnc_id": 27110,
          "hgvs_c": "c.494A>C",
          "hgvs_p": "p.Glu165Ala",
          "transcript": "ENST00000863703.1",
          "protein_id": "ENSP00000533762.1",
          "transcript_support_level": null,
          "aa_start": 165,
          "aa_end": null,
          "aa_length": 202,
          "cds_start": 494,
          "cds_end": null,
          "cds_length": 609,
          "cdna_start": 638,
          "cdna_end": null,
          "cdna_length": 3053,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000863703.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANKRD29",
          "gene_hgnc_id": 27110,
          "hgvs_c": "c.383A>C",
          "hgvs_p": "p.Glu128Ala",
          "transcript": "ENST00000965703.1",
          "protein_id": "ENSP00000635762.1",
          "transcript_support_level": null,
          "aa_start": 128,
          "aa_end": null,
          "aa_length": 165,
          "cds_start": 383,
          "cds_end": null,
          "cds_length": 498,
          "cdna_start": 486,
          "cdna_end": null,
          "cdna_length": 1593,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000965703.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANKRD29",
          "gene_hgnc_id": 27110,
          "hgvs_c": "c.692A>C",
          "hgvs_p": "p.Glu231Ala",
          "transcript": "XM_011525830.3",
          "protein_id": "XP_011524132.1",
          "transcript_support_level": null,
          "aa_start": 231,
          "aa_end": null,
          "aa_length": 268,
          "cds_start": 692,
          "cds_end": null,
          "cds_length": 807,
          "cdna_start": 873,
          "cdna_end": null,
          "cdna_length": 3288,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_011525830.3"
        },
        {
          "aa_ref": "E",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANKRD29",
          "gene_hgnc_id": 27110,
          "hgvs_c": "c.665A>C",
          "hgvs_p": "p.Glu222Ala",
          "transcript": "XM_011525831.4",
          "protein_id": "XP_011524133.1",
          "transcript_support_level": null,
          "aa_start": 222,
          "aa_end": null,
          "aa_length": 259,
          "cds_start": 665,
          "cds_end": null,
          "cds_length": 780,
          "cdna_start": 3322,
          "cdna_end": null,
          "cdna_length": 5737,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_011525831.4"
        },
        {
          "aa_ref": "E",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANKRD29",
          "gene_hgnc_id": 27110,
          "hgvs_c": "c.641A>C",
          "hgvs_p": "p.Glu214Ala",
          "transcript": "XM_011525832.4",
          "protein_id": "XP_011524134.1",
          "transcript_support_level": null,
          "aa_start": 214,
          "aa_end": null,
          "aa_length": 251,
          "cds_start": 641,
          "cds_end": null,
          "cds_length": 756,
          "cdna_start": 3440,
          "cdna_end": null,
          "cdna_length": 5855,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_011525832.4"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "ANKRD29",
          "gene_hgnc_id": 27110,
          "hgvs_c": "c.723+5609A>C",
          "hgvs_p": null,
          "transcript": "NM_001308238.2",
          "protein_id": "NP_001295167.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 268,
          "cds_start": null,
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          "cds_length": 807,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3288,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "NM_001308238.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "ANKRD29",
          "gene_hgnc_id": 27110,
          "hgvs_c": "c.723+5609A>C",
          "hgvs_p": null,
          "transcript": "ENST00000322980.13",
          "protein_id": "ENSP00000323387.9",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 268,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 807,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1658,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000322980.13"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "ANKRD29",
          "gene_hgnc_id": 27110,
          "hgvs_c": "c.627+7408A>C",
          "hgvs_p": null,
          "transcript": "ENST00000965702.1",
          "protein_id": "ENSP00000635761.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 236,
          "cds_start": null,
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          "cds_length": 711,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2048,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000965702.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "ANKRD29",
          "gene_hgnc_id": 27110,
          "hgvs_c": "c.624+5609A>C",
          "hgvs_p": null,
          "transcript": "ENST00000863701.1",
          "protein_id": "ENSP00000533760.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 235,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 708,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3184,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000863701.1"
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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.