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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: 19-1036169-G-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=1036169&ref=G&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "19",
      "pos": 1036169,
      "ref": "G",
      "alt": "T",
      "effect": "missense_variant",
      "transcript": "NM_001303501.2",
      "consequences": [
        {
          "aa_ref": "V",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CNN2",
          "gene_hgnc_id": 2156,
          "hgvs_c": "c.430G>T",
          "hgvs_p": "p.Val144Phe",
          "transcript": "NM_004368.4",
          "protein_id": "NP_004359.1",
          "transcript_support_level": null,
          "aa_start": 144,
          "aa_end": null,
          "aa_length": 309,
          "cds_start": 430,
          "cds_end": null,
          "cds_length": 930,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000263097.9",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_004368.4"
        },
        {
          "aa_ref": "V",
          "aa_alt": "F",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CNN2",
          "gene_hgnc_id": 2156,
          "hgvs_c": "c.430G>T",
          "hgvs_p": "p.Val144Phe",
          "transcript": "ENST00000263097.9",
          "protein_id": "ENSP00000263097.2",
          "transcript_support_level": 1,
          "aa_start": 144,
          "aa_end": null,
          "aa_length": 309,
          "cds_start": 430,
          "cds_end": null,
          "cds_length": 930,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_004368.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000263097.9"
        },
        {
          "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": 2,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "CNN2",
          "gene_hgnc_id": 2156,
          "hgvs_c": "c.34-247G>T",
          "hgvs_p": null,
          "transcript": "ENST00000607102.1",
          "protein_id": "ENSP00000475175.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 101,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 306,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000607102.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CNN2",
          "gene_hgnc_id": 2156,
          "hgvs_c": "c.493G>T",
          "hgvs_p": "p.Val165Phe",
          "transcript": "NM_001303501.2",
          "protein_id": "NP_001290430.1",
          "transcript_support_level": null,
          "aa_start": 165,
          "aa_end": null,
          "aa_length": 330,
          "cds_start": 493,
          "cds_end": null,
          "cds_length": 993,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001303501.2"
        },
        {
          "aa_ref": "V",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CNN2",
          "gene_hgnc_id": 2156,
          "hgvs_c": "c.493G>T",
          "hgvs_p": "p.Val165Phe",
          "transcript": "ENST00000562958.6",
          "protein_id": "ENSP00000456436.1",
          "transcript_support_level": 2,
          "aa_start": 165,
          "aa_end": null,
          "aa_length": 330,
          "cds_start": 493,
          "cds_end": null,
          "cds_length": 993,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000562958.6"
        },
        {
          "aa_ref": "V",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CNN2",
          "gene_hgnc_id": 2156,
          "hgvs_c": "c.424G>T",
          "hgvs_p": "p.Val142Phe",
          "transcript": "ENST00000926772.1",
          "protein_id": "ENSP00000596831.1",
          "transcript_support_level": null,
          "aa_start": 142,
          "aa_end": null,
          "aa_length": 307,
          "cds_start": 424,
          "cds_end": null,
          "cds_length": 924,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000926772.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CNN2",
          "gene_hgnc_id": 2156,
          "hgvs_c": "c.409G>T",
          "hgvs_p": "p.Val137Phe",
          "transcript": "ENST00000926776.1",
          "protein_id": "ENSP00000596835.1",
          "transcript_support_level": null,
          "aa_start": 137,
          "aa_end": null,
          "aa_length": 302,
          "cds_start": 409,
          "cds_end": null,
          "cds_length": 909,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000926776.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CNN2",
          "gene_hgnc_id": 2156,
          "hgvs_c": "c.397G>T",
          "hgvs_p": "p.Val133Phe",
          "transcript": "NM_001303499.2",
          "protein_id": "NP_001290428.1",
          "transcript_support_level": null,
          "aa_start": 133,
          "aa_end": null,
          "aa_length": 298,
          "cds_start": 397,
          "cds_end": null,
          "cds_length": 897,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001303499.2"
        },
        {
          "aa_ref": "V",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CNN2",
          "gene_hgnc_id": 2156,
          "hgvs_c": "c.397G>T",
          "hgvs_p": "p.Val133Phe",
          "transcript": "ENST00000565096.6",
          "protein_id": "ENSP00000457968.1",
          "transcript_support_level": 2,
          "aa_start": 133,
          "aa_end": null,
          "aa_length": 298,
          "cds_start": 397,
          "cds_end": null,
          "cds_length": 897,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000565096.6"
        },
        {
          "aa_ref": "V",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CNN2",
          "gene_hgnc_id": 2156,
          "hgvs_c": "c.325G>T",
          "hgvs_p": "p.Val109Phe",
          "transcript": "ENST00000926779.1",
          "protein_id": "ENSP00000596838.1",
          "transcript_support_level": null,
          "aa_start": 109,
          "aa_end": null,
          "aa_length": 274,
          "cds_start": 325,
          "cds_end": null,
          "cds_length": 825,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000926779.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CNN2",
          "gene_hgnc_id": 2156,
          "hgvs_c": "c.430G>T",
          "hgvs_p": "p.Val144Phe",
          "transcript": "ENST00000926777.1",
          "protein_id": "ENSP00000596836.1",
          "transcript_support_level": null,
          "aa_start": 144,
          "aa_end": null,
          "aa_length": 269,
          "cds_start": 430,
          "cds_end": null,
          "cds_length": 810,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000926777.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CNN2",
          "gene_hgnc_id": 2156,
          "hgvs_c": "c.292G>T",
          "hgvs_p": "p.Val98Phe",
          "transcript": "ENST00000865315.1",
          "protein_id": "ENSP00000535374.1",
          "transcript_support_level": null,
          "aa_start": 98,
          "aa_end": null,
          "aa_length": 263,
          "cds_start": 292,
          "cds_end": null,
          "cds_length": 792,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000865315.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CNN2",
          "gene_hgnc_id": 2156,
          "hgvs_c": "c.430G>T",
          "hgvs_p": "p.Val144Phe",
          "transcript": "ENST00000568865.3",
          "protein_id": "ENSP00000458137.2",
          "transcript_support_level": 5,
          "aa_start": 144,
          "aa_end": null,
          "aa_length": 261,
          "cds_start": 430,
          "cds_end": null,
          "cds_length": 786,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000568865.3"
        },
        {
          "aa_ref": "V",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CNN2",
          "gene_hgnc_id": 2156,
          "hgvs_c": "c.241G>T",
          "hgvs_p": "p.Val81Phe",
          "transcript": "ENST00000566695.6",
          "protein_id": "ENSP00000484533.2",
          "transcript_support_level": 2,
          "aa_start": 81,
          "aa_end": null,
          "aa_length": 246,
          "cds_start": 241,
          "cds_end": null,
          "cds_length": 741,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000566695.6"
        },
        {
          "aa_ref": "V",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CNN2",
          "gene_hgnc_id": 2156,
          "hgvs_c": "c.103G>T",
          "hgvs_p": "p.Val35Phe",
          "transcript": "ENST00000926773.1",
          "protein_id": "ENSP00000596832.1",
          "transcript_support_level": null,
          "aa_start": 35,
          "aa_end": null,
          "aa_length": 200,
          "cds_start": 103,
          "cds_end": null,
          "cds_length": 603,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000926773.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CNN2",
          "gene_hgnc_id": 2156,
          "hgvs_c": "c.403G>T",
          "hgvs_p": "p.Val135Phe",
          "transcript": "ENST00000606983.5",
          "protein_id": "ENSP00000484749.1",
          "transcript_support_level": 3,
          "aa_start": 135,
          "aa_end": null,
          "aa_length": 178,
          "cds_start": 403,
          "cds_end": null,
          "cds_length": 537,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000606983.5"
        },
        {
          "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": 6,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "CNN2",
          "gene_hgnc_id": 2156,
          "hgvs_c": "c.391-247G>T",
          "hgvs_p": null,
          "transcript": "NM_201277.3",
          "protein_id": "NP_958434.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 270,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 813,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_201277.3"
        },
        {
          "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": 6,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "CNN2",
          "gene_hgnc_id": 2156,
          "hgvs_c": "c.391-247G>T",
          "hgvs_p": null,
          "transcript": "ENST00000348419.7",
          "protein_id": "ENSP00000340129.2",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 270,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 813,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000348419.7"
        },
        {
          "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": 6,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "CNN2",
          "gene_hgnc_id": 2156,
          "hgvs_c": "c.364-247G>T",
          "hgvs_p": null,
          "transcript": "ENST00000926774.1",
          "protein_id": "ENSP00000596833.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 261,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 786,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000926774.1"
        },
        {
          "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": 6,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "CNN2",
          "gene_hgnc_id": 2156,
          "hgvs_c": "c.358-247G>T",
          "hgvs_p": null,
          "transcript": "ENST00000926775.1",
          "protein_id": "ENSP00000596834.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 259,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 780,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000926775.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
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          "consequences": [
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      "dbsnp": "rs201618086",
      "frequency_reference_population": 6.847561e-7,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 1,
      "gnomad_exomes_af": 6.84756e-7,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": 1,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.47701331973075867,
      "computational_prediction_selected": "Uncertain_significance",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
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      "revel_prediction": "Benign",
      "alphamissense_score": 0.8054,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.17,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 4.743,
      "phylop100way_prediction": "Uncertain_significance",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
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      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
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      "acmg_score": 3,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PM2,PP2",
      "acmg_by_gene": [
        {
          "score": 3,
          "benign_score": 0,
          "pathogenic_score": 3,
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            "PM2",
            "PP2"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "NM_001303501.2",
          "gene_symbol": "CNN2",
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          "effects": [
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          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.493G>T",
          "hgvs_p": "p.Val165Phe"
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      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}