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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: 10-114447925-T-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=114447925&ref=T&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "10",
      "pos": 114447925,
      "ref": "T",
      "alt": "A",
      "effect": "missense_variant",
      "transcript": "NM_002313.7",
      "consequences": [
        {
          "aa_ref": "I",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.1690A>T",
          "hgvs_p": "p.Ile564Phe",
          "transcript": "NM_002313.7",
          "protein_id": "NP_002304.3",
          "transcript_support_level": null,
          "aa_start": 564,
          "aa_end": null,
          "aa_length": 778,
          "cds_start": 1690,
          "cds_end": null,
          "cds_length": 2337,
          "cdna_start": 1765,
          "cdna_end": null,
          "cdna_length": 7560,
          "mane_select": "ENST00000533213.7",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "F",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.1690A>T",
          "hgvs_p": "p.Ile564Phe",
          "transcript": "ENST00000533213.7",
          "protein_id": "ENSP00000433629.3",
          "transcript_support_level": 5,
          "aa_start": 564,
          "aa_end": null,
          "aa_length": 778,
          "cds_start": 1690,
          "cds_end": null,
          "cds_length": 2337,
          "cdna_start": 1765,
          "cdna_end": null,
          "cdna_length": 7560,
          "mane_select": "NM_002313.7",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.1858A>T",
          "hgvs_p": "p.Ile620Phe",
          "transcript": "ENST00000649363.1",
          "protein_id": "ENSP00000497150.1",
          "transcript_support_level": null,
          "aa_start": 620,
          "aa_end": null,
          "aa_length": 834,
          "cds_start": 1858,
          "cds_end": null,
          "cds_length": 2505,
          "cdna_start": 1941,
          "cdna_end": null,
          "cdna_length": 2670,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.1600A>T",
          "hgvs_p": "p.Ile534Phe",
          "transcript": "NM_001322882.2",
          "protein_id": "NP_001309811.1",
          "transcript_support_level": null,
          "aa_start": 534,
          "aa_end": null,
          "aa_length": 748,
          "cds_start": 1600,
          "cds_end": null,
          "cds_length": 2247,
          "cdna_start": 2250,
          "cdna_end": null,
          "cdna_length": 8047,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.1600A>T",
          "hgvs_p": "p.Ile534Phe",
          "transcript": "ENST00000369256.6",
          "protein_id": "ENSP00000358260.3",
          "transcript_support_level": 5,
          "aa_start": 534,
          "aa_end": null,
          "aa_length": 748,
          "cds_start": 1600,
          "cds_end": null,
          "cds_length": 2247,
          "cdna_start": 2250,
          "cdna_end": null,
          "cdna_length": 3203,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.1510A>T",
          "hgvs_p": "p.Ile504Phe",
          "transcript": "NM_001003407.2",
          "protein_id": "NP_001003407.1",
          "transcript_support_level": null,
          "aa_start": 504,
          "aa_end": null,
          "aa_length": 718,
          "cds_start": 1510,
          "cds_end": null,
          "cds_length": 2157,
          "cdna_start": 1600,
          "cdna_end": null,
          "cdna_length": 7395,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.1510A>T",
          "hgvs_p": "p.Ile504Phe",
          "transcript": "ENST00000392955.8",
          "protein_id": "ENSP00000376682.4",
          "transcript_support_level": 5,
          "aa_start": 504,
          "aa_end": null,
          "aa_length": 718,
          "cds_start": 1510,
          "cds_end": null,
          "cds_length": 2157,
          "cdna_start": 1614,
          "cdna_end": null,
          "cdna_length": 7411,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.1405A>T",
          "hgvs_p": "p.Ile469Phe",
          "transcript": "NM_001322883.2",
          "protein_id": "NP_001309812.1",
          "transcript_support_level": null,
          "aa_start": 469,
          "aa_end": null,
          "aa_length": 683,
          "cds_start": 1405,
          "cds_end": null,
          "cds_length": 2052,
          "cdna_start": 1495,
          "cdna_end": null,
          "cdna_length": 7290,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.1360A>T",
          "hgvs_p": "p.Ile454Phe",
          "transcript": "NM_001322884.3",
          "protein_id": "NP_001309813.1",
          "transcript_support_level": null,
          "aa_start": 454,
          "aa_end": null,
          "aa_length": 668,
          "cds_start": 1360,
          "cds_end": null,
          "cds_length": 2007,
          "cdna_start": 1591,
          "cdna_end": null,
          "cdna_length": 7386,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.1354A>T",
          "hgvs_p": "p.Ile452Phe",
          "transcript": "NM_001322885.3",
          "protein_id": "NP_001309814.1",
          "transcript_support_level": null,
          "aa_start": 452,
          "aa_end": null,
          "aa_length": 666,
          "cds_start": 1354,
          "cds_end": null,
          "cds_length": 2001,
          "cdna_start": 1585,
          "cdna_end": null,
          "cdna_length": 7380,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.1129A>T",
          "hgvs_p": "p.Ile377Phe",
          "transcript": "NM_001352442.2",
          "protein_id": "NP_001339371.1",
          "transcript_support_level": null,
          "aa_start": 377,
          "aa_end": null,
          "aa_length": 591,
          "cds_start": 1129,
          "cds_end": null,
          "cds_length": 1776,
          "cdna_start": 1421,
          "cdna_end": null,
          "cdna_length": 7216,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.748A>T",
          "hgvs_p": "p.Ile250Phe",
          "transcript": "NM_001352443.2",
          "protein_id": "NP_001339372.1",
          "transcript_support_level": null,
          "aa_start": 250,
          "aa_end": null,
          "aa_length": 464,
          "cds_start": 748,
          "cds_end": null,
          "cds_length": 1395,
          "cdna_start": 1056,
          "cdna_end": null,
          "cdna_length": 6851,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
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        },
        {
          "aa_ref": "I",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.721A>T",
          "hgvs_p": "p.Ile241Phe",
          "transcript": "NM_006720.4",
          "protein_id": "NP_006711.3",
          "transcript_support_level": null,
          "aa_start": 241,
          "aa_end": null,
          "aa_length": 455,
          "cds_start": 721,
          "cds_end": null,
          "cds_length": 1368,
          "cdna_start": 1029,
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          "mane_select": null,
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          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.721A>T",
          "hgvs_p": "p.Ile241Phe",
          "transcript": "ENST00000392952.7",
          "protein_id": "ENSP00000376679.3",
          "transcript_support_level": 5,
          "aa_start": 241,
          "aa_end": null,
          "aa_length": 455,
          "cds_start": 721,
          "cds_end": null,
          "cds_length": 1368,
          "cdna_start": 1047,
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          "cdna_length": 6841,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
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        },
        {
          "aa_ref": "I",
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          "strand": false,
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          ],
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          "intron_rank": null,
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          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.643A>T",
          "hgvs_p": "p.Ile215Phe",
          "transcript": "NM_001322890.2",
          "protein_id": "NP_001309819.1",
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          "cds_start": 643,
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          "mane_select": null,
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          "feature": null
        },
        {
          "aa_ref": "I",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.643A>T",
          "hgvs_p": "p.Ile215Phe",
          "transcript": "NM_001322891.2",
          "protein_id": "NP_001309820.1",
          "transcript_support_level": null,
          "aa_start": 215,
          "aa_end": null,
          "aa_length": 429,
          "cds_start": 643,
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          "cds_length": 1290,
          "cdna_start": 972,
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          "mane_select": null,
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        },
        {
          "aa_ref": "I",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.637A>T",
          "hgvs_p": "p.Ile213Phe",
          "transcript": "NM_001322892.2",
          "protein_id": "NP_001309821.1",
          "transcript_support_level": null,
          "aa_start": 213,
          "aa_end": null,
          "aa_length": 427,
          "cds_start": 637,
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          "cds_length": 1284,
          "cdna_start": 945,
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          "cdna_length": 6740,
          "mane_select": null,
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          "feature": null
        },
        {
          "aa_ref": "I",
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          "strand": false,
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          ],
          "exon_rank": 9,
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          "exon_count": 17,
          "intron_rank": null,
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          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.637A>T",
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          "transcript": "NM_001322893.2",
          "protein_id": "NP_001309822.1",
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          "cds_start": 637,
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        },
        {
          "aa_ref": "I",
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          "strand": false,
          "consequences": [
            "missense_variant"
          ],
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          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.559A>T",
          "hgvs_p": "p.Ile187Phe",
          "transcript": "NM_001322896.2",
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          "transcript_support_level": null,
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          "cdna_start": 867,
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          "feature": null
        },
        {
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          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
          "gene_hgnc_id": 78,
          "hgvs_c": "c.559A>T",
          "hgvs_p": "p.Ile187Phe",
          "transcript": "ENST00000369253.6",
          "protein_id": "ENSP00000358257.2",
          "transcript_support_level": 5,
          "aa_start": 187,
          "aa_end": null,
          "aa_length": 401,
          "cds_start": 559,
          "cds_end": null,
          "cds_length": 1206,
          "cdna_start": 789,
          "cdna_end": null,
          "cdna_length": 2255,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABLIM1",
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      "acmg_score": 1,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PM2,BP4",
      "acmg_by_gene": [
        {
          "score": 1,
          "benign_score": 1,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "NM_002313.7",
          "gene_symbol": "ABLIM1",
          "hgnc_id": 78,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.1690A>T",
          "hgvs_p": "p.Ile564Phe"
        }
      ],
      "clinvar_disease": "not specified",
      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "US:1",
      "phenotype_combined": "not specified",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
    }
  ],
  "message": null
}