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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: 3-47852834-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=47852834&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "3",
      "pos": 47852834,
      "ref": "C",
      "alt": "T",
      "effect": "synonymous_variant",
      "transcript": "NM_001134364.2",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MAP4",
          "gene_hgnc_id": 6862,
          "hgvs_c": "c.*100G>A",
          "hgvs_p": null,
          "transcript": "NM_001385682.1",
          "protein_id": "NP_001372611.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2296,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 6891,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000683076.1",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001385682.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MAP4",
          "gene_hgnc_id": 6862,
          "hgvs_c": "c.*100G>A",
          "hgvs_p": null,
          "transcript": "ENST00000683076.1",
          "protein_id": "ENSP00000507895.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2296,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 6891,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001385682.1",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000683076.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MAP4",
          "gene_hgnc_id": 6862,
          "hgvs_c": "c.*198G>A",
          "hgvs_p": null,
          "transcript": "ENST00000360240.10",
          "protein_id": "ENSP00000353375.6",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1152,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 3459,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000360240.10"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MAP4",
          "gene_hgnc_id": 6862,
          "hgvs_c": "c.*100G>A",
          "hgvs_p": null,
          "transcript": "ENST00000429422.5",
          "protein_id": "ENSP00000416743.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 492,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1479,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000429422.5"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MAP4",
          "gene_hgnc_id": 6862,
          "hgvs_c": "c.3366G>A",
          "hgvs_p": "p.Ser1122Ser",
          "transcript": "NM_001134364.2",
          "protein_id": "NP_001127836.1",
          "transcript_support_level": null,
          "aa_start": 1122,
          "aa_end": null,
          "aa_length": 1135,
          "cds_start": 3366,
          "cds_end": null,
          "cds_length": 3408,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001134364.2"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MAP4",
          "gene_hgnc_id": 6862,
          "hgvs_c": "c.3366G>A",
          "hgvs_p": "p.Ser1122Ser",
          "transcript": "ENST00000395734.8",
          "protein_id": "ENSP00000379083.3",
          "transcript_support_level": 2,
          "aa_start": 1122,
          "aa_end": null,
          "aa_length": 1135,
          "cds_start": 3366,
          "cds_end": null,
          "cds_length": 3408,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000395734.8"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MAP4",
          "gene_hgnc_id": 6862,
          "hgvs_c": "c.3321G>A",
          "hgvs_p": "p.Ser1107Ser",
          "transcript": "NM_001384756.1",
          "protein_id": "NP_001371685.1",
          "transcript_support_level": null,
          "aa_start": 1107,
          "aa_end": null,
          "aa_length": 1120,
          "cds_start": 3321,
          "cds_end": null,
          "cds_length": 3363,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001384756.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MAP4",
          "gene_hgnc_id": 6862,
          "hgvs_c": "c.3243G>A",
          "hgvs_p": "p.Ser1081Ser",
          "transcript": "NM_001384681.1",
          "protein_id": "NP_001371610.1",
          "transcript_support_level": null,
          "aa_start": 1081,
          "aa_end": null,
          "aa_length": 1094,
          "cds_start": 3243,
          "cds_end": null,
          "cds_length": 3285,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001384681.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MAP4",
          "gene_hgnc_id": 6862,
          "hgvs_c": "c.2445G>A",
          "hgvs_p": "p.Ser815Ser",
          "transcript": "ENST00000420772.6",
          "protein_id": "ENSP00000409731.2",
          "transcript_support_level": 5,
          "aa_start": 815,
          "aa_end": null,
          "aa_length": 828,
          "cds_start": 2445,
          "cds_end": null,
          "cds_length": 2487,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000420772.6"
        },
        {
          "aa_ref": "S",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MAP4",
          "gene_hgnc_id": 6862,
          "hgvs_c": "c.1350G>A",
          "hgvs_p": "p.Ser450Ser",
          "transcript": "ENST00000335271.9",
          "protein_id": "ENSP00000334770.5",
          "transcript_support_level": 2,
          "aa_start": 450,
          "aa_end": null,
          "aa_length": 463,
          "cds_start": 1350,
          "cds_end": null,
          "cds_length": 1392,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000335271.9"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MAP4",
          "gene_hgnc_id": 6862,
          "hgvs_c": "c.*198G>A",
          "hgvs_p": null,
          "transcript": "ENST00000426837.6",
          "protein_id": "ENSP00000407602.2",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2297,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 6894,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000426837.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MAP4",
          "gene_hgnc_id": 6862,
          "hgvs_c": "c.*100G>A",
          "hgvs_p": null,
          "transcript": "NM_001385687.1",
          "protein_id": "NP_001372616.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2296,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 6891,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001385687.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MAP4",
          "gene_hgnc_id": 6862,
          "hgvs_c": "c.*100G>A",
          "hgvs_p": null,
          "transcript": "ENST00000972337.1",
          "protein_id": "ENSP00000642396.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2280,
          "cds_start": null,
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          "cds_length": 6843,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000972337.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MAP4",
          "gene_hgnc_id": 6862,
          "hgvs_c": "c.*100G>A",
          "hgvs_p": null,
          "transcript": "ENST00000922519.1",
          "protein_id": "ENSP00000592578.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2279,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 6840,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000922519.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
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          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
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          "gene_symbol": "MAP4",
          "gene_hgnc_id": 6862,
          "hgvs_c": "c.*100G>A",
          "hgvs_p": null,
          "transcript": "ENST00000972351.1",
          "protein_id": "ENSP00000642410.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2279,
          "cds_start": null,
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          "cds_length": 6840,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000972351.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MAP4",
          "gene_hgnc_id": 6862,
          "hgvs_c": "c.*100G>A",
          "hgvs_p": null,
          "transcript": "ENST00000972333.1",
          "protein_id": "ENSP00000642392.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2275,
          "cds_start": null,
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          "cds_length": 6828,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000972333.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MAP4",
          "gene_hgnc_id": 6862,
          "hgvs_c": "c.*100G>A",
          "hgvs_p": null,
          "transcript": "NM_001385689.1",
          "protein_id": "NP_001372618.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2258,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 6777,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "NM_001385689.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MAP4",
          "gene_hgnc_id": 6862,
          "hgvs_c": "c.*100G>A",
          "hgvs_p": null,
          "transcript": "ENST00000972344.1",
          "protein_id": "ENSP00000642403.1",
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          "cds_start": null,
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          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000972344.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 20,
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          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MAP4",
          "gene_hgnc_id": 6862,
          "hgvs_c": "c.*100G>A",
          "hgvs_p": null,
          "transcript": "ENST00000972345.1",
          "protein_id": "ENSP00000642404.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 2258,
          "cds_start": null,
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          "cds_length": 6777,
          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000972345.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "MAP4",
          "gene_hgnc_id": 6862,
          "hgvs_c": "c.*100G>A",
          "hgvs_p": null,
          "transcript": "ENST00000972359.1",
          "protein_id": "ENSP00000642418.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2258,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 6777,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000972359.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
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      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.78,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 0.017,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
      "dbscsnv_ada_score": null,
      "dbscsnv_ada_prediction": null,
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": -4,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "PM2,BP4_Strong,BP6,BP7",
      "acmg_by_gene": [
        {
          "score": -4,
          "benign_score": 6,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Strong",
            "BP6",
            "BP7"
          ],
          "verdict": "Likely_benign",
          "transcript": "NM_001134364.2",
          "gene_symbol": "MAP4",
          "hgnc_id": 6862,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "c.3366G>A",
          "hgvs_p": "p.Ser1122Ser"
        }
      ],
      "clinvar_disease": "MAP4-related disorder",
      "clinvar_classification": "Likely benign",
      "clinvar_review_status": "no assertion criteria provided",
      "clinvar_submissions_summary": "null",
      "phenotype_combined": "MAP4-related disorder",
      "pathogenicity_classification_combined": "Likely benign",
      "custom_annotations": null
    }
  ],
  "message": null
}