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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: 6-35122320-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=35122320&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "6",
      "pos": 35122320,
      "ref": "T",
      "alt": "C",
      "effect": "synonymous_variant",
      "transcript": "ENST00000311875.11",
      "consequences": [
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCP11",
          "gene_hgnc_id": 11658,
          "hgvs_c": "c.375A>G",
          "hgvs_p": "p.Leu125Leu",
          "transcript": "NM_001370687.1",
          "protein_id": "NP_001357616.1",
          "transcript_support_level": null,
          "aa_start": 125,
          "aa_end": null,
          "aa_length": 503,
          "cds_start": 375,
          "cds_end": null,
          "cds_length": 1512,
          "cdna_start": 524,
          "cdna_end": null,
          "cdna_length": 1855,
          "mane_select": "ENST00000311875.11",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCP11",
          "gene_hgnc_id": 11658,
          "hgvs_c": "c.375A>G",
          "hgvs_p": "p.Leu125Leu",
          "transcript": "ENST00000311875.11",
          "protein_id": "ENSP00000308708.6",
          "transcript_support_level": 1,
          "aa_start": 125,
          "aa_end": null,
          "aa_length": 503,
          "cds_start": 375,
          "cds_end": null,
          "cds_length": 1512,
          "cdna_start": 524,
          "cdna_end": null,
          "cdna_length": 1855,
          "mane_select": "NM_001370687.1",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCP11",
          "gene_hgnc_id": 11658,
          "hgvs_c": "c.375A>G",
          "hgvs_p": "p.Leu125Leu",
          "transcript": "ENST00000512012.5",
          "protein_id": "ENSP00000425995.1",
          "transcript_support_level": 1,
          "aa_start": 125,
          "aa_end": null,
          "aa_length": 503,
          "cds_start": 375,
          "cds_end": null,
          "cds_length": 1512,
          "cdna_start": 532,
          "cdna_end": null,
          "cdna_length": 1669,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCP11",
          "gene_hgnc_id": 11658,
          "hgvs_c": "c.189A>G",
          "hgvs_p": "p.Leu63Leu",
          "transcript": "ENST00000244645.7",
          "protein_id": "ENSP00000244645.3",
          "transcript_support_level": 1,
          "aa_start": 63,
          "aa_end": null,
          "aa_length": 441,
          "cds_start": 189,
          "cds_end": null,
          "cds_length": 1326,
          "cdna_start": 689,
          "cdna_end": null,
          "cdna_length": 2018,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCP11",
          "gene_hgnc_id": 11658,
          "hgvs_c": "c.186A>G",
          "hgvs_p": "p.Leu62Leu",
          "transcript": "ENST00000611141.4",
          "protein_id": "ENSP00000478603.1",
          "transcript_support_level": 1,
          "aa_start": 62,
          "aa_end": null,
          "aa_length": 440,
          "cds_start": 186,
          "cds_end": null,
          "cds_length": 1323,
          "cdna_start": 801,
          "cdna_end": null,
          "cdna_length": 2130,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCP11",
          "gene_hgnc_id": 11658,
          "hgvs_c": "n.*343A>G",
          "hgvs_p": null,
          "transcript": "ENST00000455706.7",
          "protein_id": "ENSP00000399012.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1962,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCP11",
          "gene_hgnc_id": 11658,
          "hgvs_c": "n.*455A>G",
          "hgvs_p": null,
          "transcript": "ENST00000504758.6",
          "protein_id": "ENSP00000421916.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1978,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCP11",
          "gene_hgnc_id": 11658,
          "hgvs_c": "n.*440A>G",
          "hgvs_p": null,
          "transcript": "ENST00000505911.6",
          "protein_id": "ENSP00000423293.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1974,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCP11",
          "gene_hgnc_id": 11658,
          "hgvs_c": "n.*343A>G",
          "hgvs_p": null,
          "transcript": "ENST00000455706.7",
          "protein_id": "ENSP00000399012.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1962,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCP11",
          "gene_hgnc_id": 11658,
          "hgvs_c": "n.*455A>G",
          "hgvs_p": null,
          "transcript": "ENST00000504758.6",
          "protein_id": "ENSP00000421916.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1978,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "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": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCP11",
          "gene_hgnc_id": 11658,
          "hgvs_c": "n.*440A>G",
          "hgvs_p": null,
          "transcript": "ENST00000505911.6",
          "protein_id": "ENSP00000423293.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1974,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_premature_start_codon_gain_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCP11",
          "gene_hgnc_id": 11658,
          "hgvs_c": "c.-49A>G",
          "hgvs_p": null,
          "transcript": "NM_001366327.2",
          "protein_id": "NP_001353256.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 362,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1089,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1743,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_premature_start_codon_gain_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCP11",
          "gene_hgnc_id": 11658,
          "hgvs_c": "c.-49A>G",
          "hgvs_p": null,
          "transcript": "NM_001366328.2",
          "protein_id": "NP_001353257.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 362,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1089,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1742,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_premature_start_codon_gain_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCP11",
          "gene_hgnc_id": 11658,
          "hgvs_c": "c.-49A>G",
          "hgvs_p": null,
          "transcript": "NM_001366329.2",
          "protein_id": "NP_001353258.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 362,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1089,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1622,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_premature_start_codon_gain_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCP11",
          "gene_hgnc_id": 11658,
          "hgvs_c": "c.-49A>G",
          "hgvs_p": null,
          "transcript": "NM_001366330.2",
          "protein_id": "NP_001353259.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 321,
          "cds_start": -4,
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          "cds_length": 966,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1624,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_premature_start_codon_gain_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCP11",
          "gene_hgnc_id": 11658,
          "hgvs_c": "c.-368A>G",
          "hgvs_p": null,
          "transcript": "NM_001366331.2",
          "protein_id": "NP_001353260.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 302,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 909,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1994,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_premature_start_codon_gain_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCP11",
          "gene_hgnc_id": 11658,
          "hgvs_c": "c.-49A>G",
          "hgvs_p": null,
          "transcript": "NM_001366332.2",
          "protein_id": "NP_001353261.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 296,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 891,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1407,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_premature_start_codon_gain_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCP11",
          "gene_hgnc_id": 11658,
          "hgvs_c": "c.-49A>G",
          "hgvs_p": null,
          "transcript": "ENST00000486638.1",
          "protein_id": "ENSP00000421103.1",
          "transcript_support_level": 3,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 220,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 665,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 837,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_premature_start_codon_gain_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCP11",
          "gene_hgnc_id": 11658,
          "hgvs_c": "c.-49A>G",
          "hgvs_p": null,
          "transcript": "XM_011514832.2",
          "protein_id": "XP_011513134.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 362,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1089,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1484,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "5_prime_UTR_premature_start_codon_gain_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCP11",
          "gene_hgnc_id": 11658,
          "hgvs_c": "c.-49A>G",
          "hgvs_p": null,
          "transcript": "XM_047419278.1",
          "protein_id": "XP_047275234.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 362,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1089,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1605,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TCP11",
          "gene_hgnc_id": 11658,
          "hgvs_c": "c.414A>G",
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          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "TCP11",
      "gene_hgnc_id": 11658,
      "dbsnp": "rs2234044",
      "frequency_reference_population": 0.15235932,
      "hom_count_reference_population": 21011,
      "allele_count_reference_population": 245886,
      "gnomad_exomes_af": 0.149509,
      "gnomad_genomes_af": 0.179755,
      "gnomad_exomes_ac": 218547,
      "gnomad_genomes_ac": 27339,
      "gnomad_exomes_homalt": 17944,
      "gnomad_genomes_homalt": 3067,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.6299999952316284,
      "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": -0.63,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -1.098,
      "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": -13,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BP7,BA1",
      "acmg_by_gene": [
        {
          "score": -13,
          "benign_score": 13,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BP7",
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "ENST00000311875.11",
          "gene_symbol": "TCP11",
          "hgnc_id": 11658,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.375A>G",
          "hgvs_p": "p.Leu125Leu"
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}