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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: 20-37350945-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=37350945&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "20",
      "pos": 37350945,
      "ref": "C",
      "alt": "T",
      "effect": "intron_variant",
      "transcript": "NM_005417.5",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "SRC",
          "gene_hgnc_id": 11283,
          "hgvs_c": "c.-247+4690C>T",
          "hgvs_p": null,
          "transcript": "NM_198291.3",
          "protein_id": "NP_938033.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 536,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1611,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000373578.7",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_198291.3"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "SRC",
          "gene_hgnc_id": 11283,
          "hgvs_c": "c.-247+4690C>T",
          "hgvs_p": null,
          "transcript": "ENST00000373578.7",
          "protein_id": "ENSP00000362680.2",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 536,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1611,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_198291.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000373578.7"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "SRC",
          "gene_hgnc_id": 11283,
          "hgvs_c": "n.203+6058C>T",
          "hgvs_p": null,
          "transcript": "ENST00000497734.5",
          "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": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "ENST00000497734.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_premature_start_codon_gain_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SRC",
          "gene_hgnc_id": 11283,
          "hgvs_c": "c.-481C>T",
          "hgvs_p": null,
          "transcript": "XM_047440399.1",
          "protein_id": "XP_047296355.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 542,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1629,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047440399.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_premature_start_codon_gain_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SRC",
          "gene_hgnc_id": 11283,
          "hgvs_c": "c.-372C>T",
          "hgvs_p": null,
          "transcript": "XM_047440400.1",
          "protein_id": "XP_047296356.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 542,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1629,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047440400.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SRC",
          "gene_hgnc_id": 11283,
          "hgvs_c": "c.-481C>T",
          "hgvs_p": null,
          "transcript": "XM_047440399.1",
          "protein_id": "XP_047296355.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 542,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1629,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047440399.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SRC",
          "gene_hgnc_id": 11283,
          "hgvs_c": "c.-372C>T",
          "hgvs_p": null,
          "transcript": "XM_047440400.1",
          "protein_id": "XP_047296356.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 542,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1629,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047440400.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SRC",
          "gene_hgnc_id": 11283,
          "hgvs_c": "c.-481C>T",
          "hgvs_p": null,
          "transcript": "XM_047440399.1",
          "protein_id": "XP_047296355.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 542,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1629,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047440399.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SRC",
          "gene_hgnc_id": 11283,
          "hgvs_c": "c.-372C>T",
          "hgvs_p": null,
          "transcript": "XM_047440400.1",
          "protein_id": "XP_047296356.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 542,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1629,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047440400.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "SRC",
          "gene_hgnc_id": 11283,
          "hgvs_c": "c.-247+5716C>T",
          "hgvs_p": null,
          "transcript": "ENST00000876231.1",
          "protein_id": "ENSP00000546290.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 561,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1686,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000876231.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "SRC",
          "gene_hgnc_id": 11283,
          "hgvs_c": "c.-247+4690C>T",
          "hgvs_p": null,
          "transcript": "ENST00000876235.1",
          "protein_id": "ENSP00000546294.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 547,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1644,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000876235.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "SRC",
          "gene_hgnc_id": 11283,
          "hgvs_c": "c.-247+6058C>T",
          "hgvs_p": null,
          "transcript": "NM_005417.5",
          "protein_id": "NP_005408.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": null,
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          "cds_length": 1611,
          "cdna_start": null,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_005417.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 15,
          "intron_rank": 2,
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          "gene_symbol": "SRC",
          "gene_hgnc_id": 11283,
          "hgvs_c": "c.-247+3709C>T",
          "hgvs_p": null,
          "transcript": "ENST00000692112.1",
          "protein_id": "ENSP00000508666.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 536,
          "cds_start": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
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          "exon_count": 15,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "SRC",
          "gene_hgnc_id": 11283,
          "hgvs_c": "c.-365+4690C>T",
          "hgvs_p": null,
          "transcript": "ENST00000692423.1",
          "protein_id": "ENSP00000509325.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 536,
          "cds_start": null,
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          "cdna_start": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": null,
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          ],
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          "gene_symbol": "SRC",
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          "hgvs_c": "c.-247+6058C>T",
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          "transcript": "ENST00000876226.1",
          "protein_id": "ENSP00000546285.1",
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 13,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "SRC",
          "gene_hgnc_id": 11283,
          "hgvs_c": "c.-79+6058C>T",
          "hgvs_p": null,
          "transcript": "ENST00000876227.1",
          "protein_id": "ENSP00000546286.1",
          "transcript_support_level": null,
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          "cds_start": null,
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          "feature": "ENST00000876227.1"
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        {
          "aa_ref": null,
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          "canonical": false,
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          "exon_count": 15,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "SRC",
          "gene_hgnc_id": 11283,
          "hgvs_c": "c.-247+3709C>T",
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          "transcript": "ENST00000876228.1",
          "protein_id": "ENSP00000546287.1",
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          "cds_start": null,
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          "cdna_start": null,
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          "biotype": "protein_coding",
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        },
        {
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          "intron_rank": 1,
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          "gene_symbol": "SRC",
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        },
        {
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          "protein_coding": true,
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          "gene_symbol": "SRC",
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          "hgvs_c": "c.-269+5716C>T",
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          "biotype": "protein_coding",
          "feature": "ENST00000876230.1"
        },
        {
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          "canonical": false,
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          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 15,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "SRC",
          "gene_hgnc_id": 11283,
          "hgvs_c": "c.-269+3709C>T",
          "hgvs_p": null,
          "transcript": "ENST00000876232.1",
          "protein_id": "ENSP00000546291.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 536,
          "cds_start": null,
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          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000876232.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 13,
          "intron_rank": 1,
          "intron_rank_end": null,
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          "cds_end": null,
          "cds_length": 1611,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047440413.1"
        }
      ],
      "gene_symbol": "SRC",
      "gene_hgnc_id": 11283,
      "dbsnp": "rs12106024",
      "frequency_reference_population": 0.000019734505,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 3,
      "gnomad_exomes_af": null,
      "gnomad_genomes_af": 0.0000197345,
      "gnomad_exomes_ac": null,
      "gnomad_genomes_ac": 3,
      "gnomad_exomes_homalt": null,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.8399999737739563,
      "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": -0.84,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -4.479,
      "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": -2,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "PM2,BP4_Strong",
      "acmg_by_gene": [
        {
          "score": -2,
          "benign_score": 4,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Strong"
          ],
          "verdict": "Likely_benign",
          "transcript": "NM_005417.5",
          "gene_symbol": "SRC",
          "hgnc_id": 11283,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "AD,Unknown",
          "hgvs_c": "c.-247+6058C>T",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}