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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: 10-27939980-C-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=27939980&ref=C&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "10",
      "pos": 27939980,
      "ref": "C",
      "alt": "A",
      "effect": "stop_gained",
      "transcript": "NM_018076.5",
      "consequences": [
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ODAD2",
          "gene_hgnc_id": 25583,
          "hgvs_c": "c.2014G>T",
          "hgvs_p": "p.Glu672*",
          "transcript": "NM_018076.5",
          "protein_id": "NP_060546.2",
          "transcript_support_level": null,
          "aa_start": 672,
          "aa_end": null,
          "aa_length": 1044,
          "cds_start": 2014,
          "cds_end": null,
          "cds_length": 3135,
          "cdna_start": 2138,
          "cdna_end": null,
          "cdna_length": 3603,
          "mane_select": "ENST00000305242.10",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ODAD2",
          "gene_hgnc_id": 25583,
          "hgvs_c": "c.2014G>T",
          "hgvs_p": "p.Glu672*",
          "transcript": "ENST00000305242.10",
          "protein_id": "ENSP00000306410.5",
          "transcript_support_level": 1,
          "aa_start": 672,
          "aa_end": null,
          "aa_length": 1044,
          "cds_start": 2014,
          "cds_end": null,
          "cds_length": 3135,
          "cdna_start": 2138,
          "cdna_end": null,
          "cdna_length": 3603,
          "mane_select": "NM_018076.5",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ODAD2",
          "gene_hgnc_id": 25583,
          "hgvs_c": "c.2014G>T",
          "hgvs_p": "p.Glu672*",
          "transcript": "NM_001290020.2",
          "protein_id": "NP_001276949.1",
          "transcript_support_level": null,
          "aa_start": 672,
          "aa_end": null,
          "aa_length": 1044,
          "cds_start": 2014,
          "cds_end": null,
          "cds_length": 3135,
          "cdna_start": 2147,
          "cdna_end": null,
          "cdna_length": 3612,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ODAD2",
          "gene_hgnc_id": 25583,
          "hgvs_c": "c.2014G>T",
          "hgvs_p": "p.Glu672*",
          "transcript": "ENST00000673439.1",
          "protein_id": "ENSP00000500782.1",
          "transcript_support_level": null,
          "aa_start": 672,
          "aa_end": null,
          "aa_length": 1044,
          "cds_start": 2014,
          "cds_end": null,
          "cds_length": 3135,
          "cdna_start": 2112,
          "cdna_end": null,
          "cdna_length": 3486,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ODAD2",
          "gene_hgnc_id": 25583,
          "hgvs_c": "c.1090G>T",
          "hgvs_p": "p.Glu364*",
          "transcript": "NM_001312689.2",
          "protein_id": "NP_001299618.1",
          "transcript_support_level": null,
          "aa_start": 364,
          "aa_end": null,
          "aa_length": 736,
          "cds_start": 1090,
          "cds_end": null,
          "cds_length": 2211,
          "cdna_start": 1277,
          "cdna_end": null,
          "cdna_length": 2742,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ODAD2",
          "gene_hgnc_id": 25583,
          "hgvs_c": "c.1090G>T",
          "hgvs_p": "p.Glu364*",
          "transcript": "ENST00000672841.1",
          "protein_id": "ENSP00000499983.1",
          "transcript_support_level": null,
          "aa_start": 364,
          "aa_end": null,
          "aa_length": 736,
          "cds_start": 1090,
          "cds_end": null,
          "cds_length": 2211,
          "cdna_start": 1373,
          "cdna_end": null,
          "cdna_length": 2840,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ODAD2",
          "gene_hgnc_id": 25583,
          "hgvs_c": "c.589G>T",
          "hgvs_p": "p.Glu197*",
          "transcript": "NM_001290021.2",
          "protein_id": "NP_001276950.1",
          "transcript_support_level": null,
          "aa_start": 197,
          "aa_end": null,
          "aa_length": 612,
          "cds_start": 589,
          "cds_end": null,
          "cds_length": 1839,
          "cdna_start": 936,
          "cdna_end": null,
          "cdna_length": 2523,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ODAD2",
          "gene_hgnc_id": 25583,
          "hgvs_c": "c.589G>T",
          "hgvs_p": "p.Glu197*",
          "transcript": "ENST00000672877.1",
          "protein_id": "ENSP00000500120.1",
          "transcript_support_level": null,
          "aa_start": 197,
          "aa_end": null,
          "aa_length": 612,
          "cds_start": 589,
          "cds_end": null,
          "cds_length": 1839,
          "cdna_start": 936,
          "cdna_end": null,
          "cdna_length": 2521,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ODAD2",
          "gene_hgnc_id": 25583,
          "hgvs_c": "c.2014G>T",
          "hgvs_p": "p.Glu672*",
          "transcript": "XM_024448049.2",
          "protein_id": "XP_024303817.1",
          "transcript_support_level": null,
          "aa_start": 672,
          "aa_end": null,
          "aa_length": 1107,
          "cds_start": 2014,
          "cds_end": null,
          "cds_length": 3324,
          "cdna_start": 2147,
          "cdna_end": null,
          "cdna_length": 3801,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ODAD2",
          "gene_hgnc_id": 25583,
          "hgvs_c": "c.2014G>T",
          "hgvs_p": "p.Glu672*",
          "transcript": "XM_024448050.2",
          "protein_id": "XP_024303818.1",
          "transcript_support_level": null,
          "aa_start": 672,
          "aa_end": null,
          "aa_length": 1107,
          "cds_start": 2014,
          "cds_end": null,
          "cds_length": 3324,
          "cdna_start": 2564,
          "cdna_end": null,
          "cdna_length": 4218,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ODAD2",
          "gene_hgnc_id": 25583,
          "hgvs_c": "c.2014G>T",
          "hgvs_p": "p.Glu672*",
          "transcript": "XM_024448051.2",
          "protein_id": "XP_024303819.1",
          "transcript_support_level": null,
          "aa_start": 672,
          "aa_end": null,
          "aa_length": 1107,
          "cds_start": 2014,
          "cds_end": null,
          "cds_length": 3324,
          "cdna_start": 2138,
          "cdna_end": null,
          "cdna_length": 3792,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ODAD2",
          "gene_hgnc_id": 25583,
          "hgvs_c": "c.2014G>T",
          "hgvs_p": "p.Glu672*",
          "transcript": "XM_024448052.2",
          "protein_id": "XP_024303820.1",
          "transcript_support_level": null,
          "aa_start": 672,
          "aa_end": null,
          "aa_length": 1107,
          "cds_start": 2014,
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          "cds_length": 3324,
          "cdna_start": 2229,
          "cdna_end": null,
          "cdna_length": 3883,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ODAD2",
          "gene_hgnc_id": 25583,
          "hgvs_c": "c.2014G>T",
          "hgvs_p": "p.Glu672*",
          "transcript": "XM_024448053.2",
          "protein_id": "XP_024303821.1",
          "transcript_support_level": null,
          "aa_start": 672,
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          "aa_length": 1087,
          "cds_start": 2014,
          "cds_end": null,
          "cds_length": 3264,
          "cdna_start": 2147,
          "cdna_end": null,
          "cdna_length": 3741,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ODAD2",
          "gene_hgnc_id": 25583,
          "hgvs_c": "c.2014G>T",
          "hgvs_p": "p.Glu672*",
          "transcript": "XM_011519527.2",
          "protein_id": "XP_011517829.1",
          "transcript_support_level": null,
          "aa_start": 672,
          "aa_end": null,
          "aa_length": 1064,
          "cds_start": 2014,
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          "cds_length": 3195,
          "cdna_start": 2147,
          "cdna_end": null,
          "cdna_length": 3672,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
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          "gene_symbol": "ODAD2",
          "gene_hgnc_id": 25583,
          "hgvs_c": "c.2014G>T",
          "hgvs_p": "p.Glu672*",
          "transcript": "XM_047425401.1",
          "protein_id": "XP_047281357.1",
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          "cdna_start": 2138,
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          "cdna_length": 3663,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ODAD2",
          "gene_hgnc_id": 25583,
          "hgvs_c": "c.2014G>T",
          "hgvs_p": "p.Glu672*",
          "transcript": "XM_047425402.1",
          "protein_id": "XP_047281358.1",
          "transcript_support_level": null,
          "aa_start": 672,
          "aa_end": null,
          "aa_length": 1044,
          "cds_start": 2014,
          "cds_end": null,
          "cds_length": 3135,
          "cdna_start": 3337,
          "cdna_end": null,
          "cdna_length": 4802,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ODAD2",
          "gene_hgnc_id": 25583,
          "hgvs_c": "c.2014G>T",
          "hgvs_p": "p.Glu672*",
          "transcript": "XM_047425403.1",
          "protein_id": "XP_047281359.1",
          "transcript_support_level": null,
          "aa_start": 672,
          "aa_end": null,
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          "cds_start": 2014,
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          "cds_length": 3135,
          "cdna_start": 2483,
          "cdna_end": null,
          "cdna_length": 3948,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
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          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
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          "gene_symbol": "ODAD2",
          "gene_hgnc_id": 25583,
          "hgvs_c": "c.2014G>T",
          "hgvs_p": "p.Glu672*",
          "transcript": "XM_047425404.1",
          "protein_id": "XP_047281360.1",
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        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
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          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 13,
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          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ODAD2",
          "gene_hgnc_id": 25583,
          "hgvs_c": "c.1804G>T",
          "hgvs_p": "p.Glu602*",
          "transcript": "XM_047425405.1",
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          "cds_start": 1804,
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          "cdna_start": 1928,
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          "cdna_length": 3582,
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          "feature": null
        },
        {
          "aa_ref": "E",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
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          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ODAD2",
          "gene_hgnc_id": 25583,
          "hgvs_c": "c.1804G>T",
          "hgvs_p": "p.Glu602*",
          "transcript": "XM_047425407.1",
          "protein_id": "XP_047281363.1",
          "transcript_support_level": null,
          "aa_start": 602,
          "aa_end": null,
          "aa_length": 994,
          "cds_start": 1804,
          "cds_end": null,
          "cds_length": 2985,
          "cdna_start": 1937,
          "cdna_end": null,
          "cdna_length": 3462,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "E",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ODAD2",
          "gene_hgnc_id": 25583,
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}