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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: 7-158945747-G-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=158945747&ref=G&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "7",
      "pos": 158945747,
      "ref": "G",
      "alt": "T",
      "effect": "missense_variant",
      "transcript": "NM_018051.5",
      "consequences": [
        {
          "aa_ref": "A",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC2I1",
          "gene_hgnc_id": 21862,
          "hgvs_c": "c.3169G>T",
          "hgvs_p": "p.Ala1057Ser",
          "transcript": "NM_018051.5",
          "protein_id": "NP_060521.4",
          "transcript_support_level": null,
          "aa_start": 1057,
          "aa_end": null,
          "aa_length": 1066,
          "cds_start": 3169,
          "cds_end": null,
          "cds_length": 3201,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000407559.8",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_018051.5"
        },
        {
          "aa_ref": "A",
          "aa_alt": "S",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC2I1",
          "gene_hgnc_id": 21862,
          "hgvs_c": "c.3169G>T",
          "hgvs_p": "p.Ala1057Ser",
          "transcript": "ENST00000407559.8",
          "protein_id": "ENSP00000384290.3",
          "transcript_support_level": 1,
          "aa_start": 1057,
          "aa_end": null,
          "aa_length": 1066,
          "cds_start": 3169,
          "cds_end": null,
          "cds_length": 3201,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_018051.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000407559.8"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC2I1",
          "gene_hgnc_id": 21862,
          "hgvs_c": "n.*758G>T",
          "hgvs_p": null,
          "transcript": "ENST00000444851.5",
          "protein_id": "ENSP00000392608.1",
          "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": "nonsense_mediated_decay",
          "feature": "ENST00000444851.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC2I1",
          "gene_hgnc_id": 21862,
          "hgvs_c": "n.*758G>T",
          "hgvs_p": null,
          "transcript": "ENST00000444851.5",
          "protein_id": "ENSP00000392608.1",
          "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": "nonsense_mediated_decay",
          "feature": "ENST00000444851.5"
        },
        {
          "aa_ref": "A",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC2I1",
          "gene_hgnc_id": 21862,
          "hgvs_c": "c.3244G>T",
          "hgvs_p": "p.Ala1082Ser",
          "transcript": "ENST00000860814.1",
          "protein_id": "ENSP00000530873.1",
          "transcript_support_level": null,
          "aa_start": 1082,
          "aa_end": null,
          "aa_length": 1091,
          "cds_start": 3244,
          "cds_end": null,
          "cds_length": 3276,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000860814.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC2I1",
          "gene_hgnc_id": 21862,
          "hgvs_c": "c.3223G>T",
          "hgvs_p": "p.Ala1075Ser",
          "transcript": "ENST00000961351.1",
          "protein_id": "ENSP00000631410.1",
          "transcript_support_level": null,
          "aa_start": 1075,
          "aa_end": null,
          "aa_length": 1084,
          "cds_start": 3223,
          "cds_end": null,
          "cds_length": 3255,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000961351.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC2I1",
          "gene_hgnc_id": 21862,
          "hgvs_c": "c.3178G>T",
          "hgvs_p": "p.Ala1060Ser",
          "transcript": "ENST00000860811.1",
          "protein_id": "ENSP00000530870.1",
          "transcript_support_level": null,
          "aa_start": 1060,
          "aa_end": null,
          "aa_length": 1069,
          "cds_start": 3178,
          "cds_end": null,
          "cds_length": 3210,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000860811.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC2I1",
          "gene_hgnc_id": 21862,
          "hgvs_c": "c.3166G>T",
          "hgvs_p": "p.Ala1056Ser",
          "transcript": "ENST00000936430.1",
          "protein_id": "ENSP00000606489.1",
          "transcript_support_level": null,
          "aa_start": 1056,
          "aa_end": null,
          "aa_length": 1065,
          "cds_start": 3166,
          "cds_end": null,
          "cds_length": 3198,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000936430.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC2I1",
          "gene_hgnc_id": 21862,
          "hgvs_c": "c.3163G>T",
          "hgvs_p": "p.Ala1055Ser",
          "transcript": "ENST00000860813.1",
          "protein_id": "ENSP00000530872.1",
          "transcript_support_level": null,
          "aa_start": 1055,
          "aa_end": null,
          "aa_length": 1064,
          "cds_start": 3163,
          "cds_end": null,
          "cds_length": 3195,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000860813.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC2I1",
          "gene_hgnc_id": 21862,
          "hgvs_c": "c.3058G>T",
          "hgvs_p": "p.Ala1020Ser",
          "transcript": "ENST00000860810.1",
          "protein_id": "ENSP00000530869.1",
          "transcript_support_level": null,
          "aa_start": 1020,
          "aa_end": null,
          "aa_length": 1029,
          "cds_start": 3058,
          "cds_end": null,
          "cds_length": 3090,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000860810.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 24,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC2I1",
          "gene_hgnc_id": 21862,
          "hgvs_c": "c.3037G>T",
          "hgvs_p": "p.Ala1013Ser",
          "transcript": "ENST00000961350.1",
          "protein_id": "ENSP00000631409.1",
          "transcript_support_level": null,
          "aa_start": 1013,
          "aa_end": null,
          "aa_length": 1022,
          "cds_start": 3037,
          "cds_end": null,
          "cds_length": 3069,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000961350.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC2I1",
          "gene_hgnc_id": 21862,
          "hgvs_c": "c.3031G>T",
          "hgvs_p": "p.Ala1011Ser",
          "transcript": "NM_001350914.2",
          "protein_id": "NP_001337843.1",
          "transcript_support_level": null,
          "aa_start": 1011,
          "aa_end": null,
          "aa_length": 1020,
          "cds_start": 3031,
          "cds_end": null,
          "cds_length": 3063,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001350914.2"
        },
        {
          "aa_ref": "A",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC2I1",
          "gene_hgnc_id": 21862,
          "hgvs_c": "c.2989G>T",
          "hgvs_p": "p.Ala997Ser",
          "transcript": "ENST00000860812.1",
          "protein_id": "ENSP00000530871.1",
          "transcript_support_level": null,
          "aa_start": 997,
          "aa_end": null,
          "aa_length": 1006,
          "cds_start": 2989,
          "cds_end": null,
          "cds_length": 3021,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000860812.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 24,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC2I1",
          "gene_hgnc_id": 21862,
          "hgvs_c": "c.2989G>T",
          "hgvs_p": "p.Ala997Ser",
          "transcript": "ENST00000961352.1",
          "protein_id": "ENSP00000631411.1",
          "transcript_support_level": null,
          "aa_start": 997,
          "aa_end": null,
          "aa_length": 1006,
          "cds_start": 2989,
          "cds_end": null,
          "cds_length": 3021,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000961352.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 24,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC2I1",
          "gene_hgnc_id": 21862,
          "hgvs_c": "c.2596G>T",
          "hgvs_p": "p.Ala866Ser",
          "transcript": "NM_001350915.2",
          "protein_id": "NP_001337844.1",
          "transcript_support_level": null,
          "aa_start": 866,
          "aa_end": null,
          "aa_length": 875,
          "cds_start": 2596,
          "cds_end": null,
          "cds_length": 2628,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001350915.2"
        },
        {
          "aa_ref": "A",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 26,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC2I1",
          "gene_hgnc_id": 21862,
          "hgvs_c": "c.1921G>T",
          "hgvs_p": "p.Ala641Ser",
          "transcript": "NM_001350917.2",
          "protein_id": "NP_001337846.1",
          "transcript_support_level": null,
          "aa_start": 641,
          "aa_end": null,
          "aa_length": 650,
          "cds_start": 1921,
          "cds_end": null,
          "cds_length": 1953,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001350917.2"
        },
        {
          "aa_ref": "A",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC2I1",
          "gene_hgnc_id": 21862,
          "hgvs_c": "c.1921G>T",
          "hgvs_p": "p.Ala641Ser",
          "transcript": "NM_001350918.2",
          "protein_id": "NP_001337847.1",
          "transcript_support_level": null,
          "aa_start": 641,
          "aa_end": null,
          "aa_length": 650,
          "cds_start": 1921,
          "cds_end": null,
          "cds_length": 1953,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001350918.2"
        },
        {
          "aa_ref": "A",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 24,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC2I1",
          "gene_hgnc_id": 21862,
          "hgvs_c": "c.1708G>T",
          "hgvs_p": "p.Ala570Ser",
          "transcript": "NM_001350916.2",
          "protein_id": "NP_001337845.1",
          "transcript_support_level": null,
          "aa_start": 570,
          "aa_end": null,
          "aa_length": 579,
          "cds_start": 1708,
          "cds_end": null,
          "cds_length": 1740,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001350916.2"
        },
        {
          "aa_ref": "A",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC2I1",
          "gene_hgnc_id": 21862,
          "hgvs_c": "c.3178G>T",
          "hgvs_p": "p.Ala1060Ser",
          "transcript": "XM_006716041.3",
          "protein_id": "XP_006716104.1",
          "transcript_support_level": null,
          "aa_start": 1060,
          "aa_end": null,
          "aa_length": 1069,
          "cds_start": 3178,
          "cds_end": null,
          "cds_length": 3210,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_006716041.3"
        },
        {
          "aa_ref": "A",
          "aa_alt": "S",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DYNC2I1",
          "gene_hgnc_id": 21862,
          "hgvs_c": "c.3178G>T",
          "hgvs_p": "p.Ala1060Ser",
          "transcript": "XM_011516367.3",
          "protein_id": "XP_011514669.1",
          "transcript_support_level": null,
          "aa_start": 1060,
          "aa_end": null,
          "aa_length": 1069,
          "cds_start": 3178,
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          "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": "XR_007060062.1"
        }
      ],
      "gene_symbol": "DYNC2I1",
      "gene_hgnc_id": 21862,
      "dbsnp": "rs1162389472",
      "frequency_reference_population": null,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 0,
      "gnomad_exomes_af": 0,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": 0,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.044721513986587524,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.06,
      "revel_prediction": "Benign",
      "alphamissense_score": 0.0884,
      "alphamissense_prediction": "Benign",
      "bayesdelnoaf_score": -0.67,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 0.434,
      "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_018051.5",
          "gene_symbol": "DYNC2I1",
          "hgnc_id": 21862,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.3169G>T",
          "hgvs_p": "p.Ala1057Ser"
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}
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