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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: 19-4684720-GTC-ATT (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=4684720&ref=GTC&alt=ATT&genome=hg38&allGenes=true"

API Response

json
{
  "message": null,
  "variants": [
    {
      "acmg_by_gene": [
        {
          "benign_score": 0,
          "criteria": [
            "PP3"
          ],
          "effects": [
            "missense_variant"
          ],
          "gene_symbol": "DPP9",
          "hgnc_id": 18648,
          "hgvs_c": "c.2119_2121delGACinsAAT",
          "hgvs_p": "p.Asp707Asn",
          "inheritance_mode": "AR",
          "pathogenic_score": 1,
          "score": 1,
          "transcript": "NM_139159.5",
          "verdict": "Uncertain_significance"
        },
        {
          "benign_score": 0,
          "criteria": [
            "PP3"
          ],
          "effects": [
            "non_coding_transcript_exon_variant"
          ],
          "gene_symbol": "DPP9-AS1",
          "hgnc_id": 50706,
          "hgvs_c": "n.1843_1845delGTCinsATT",
          "hgvs_p": null,
          "inheritance_mode": "",
          "pathogenic_score": 1,
          "score": 1,
          "transcript": "ENST00000381796.1",
          "verdict": "Uncertain_significance"
        }
      ],
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PP3",
      "acmg_score": 1,
      "allele_count_reference_population": 0,
      "alphamissense_prediction": null,
      "alphamissense_score": null,
      "alt": "ATT",
      "apogee2_prediction": null,
      "apogee2_score": null,
      "bayesdelnoaf_prediction": null,
      "bayesdelnoaf_score": null,
      "chr": "19",
      "clinvar_classification": "",
      "clinvar_disease": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "computational_prediction_selected": null,
      "computational_score_selected": null,
      "computational_source_selected": null,
      "consequences": [
        {
          "aa_alt": "N",
          "aa_end": null,
          "aa_length": 892,
          "aa_ref": "D",
          "aa_start": 707,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 4273,
          "cdna_start": 2378,
          "cds_end": null,
          "cds_length": 2679,
          "cds_start": 2119,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 22,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "NM_139159.5",
          "gene_hgnc_id": 18648,
          "gene_symbol": "DPP9",
          "hgvs_c": "c.2119_2121delGACinsAAT",
          "hgvs_p": "p.Asp707Asn",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": "ENST00000262960.14",
          "protein_coding": true,
          "protein_id": "NP_631898.3",
          "strand": false,
          "transcript": "NM_139159.5",
          "transcript_support_level": null
        },
        {
          "aa_alt": "N",
          "aa_end": null,
          "aa_length": 892,
          "aa_ref": "D",
          "aa_start": 707,
          "biotype": "protein_coding",
          "canonical": true,
          "cdna_end": null,
          "cdna_length": 4273,
          "cdna_start": 2378,
          "cds_end": null,
          "cds_length": 2679,
          "cds_start": 2119,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 22,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000262960.14",
          "gene_hgnc_id": 18648,
          "gene_symbol": "DPP9",
          "hgvs_c": "c.2119_2121delGACinsAAT",
          "hgvs_p": "p.Asp707Asn",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": "NM_139159.5",
          "protein_coding": true,
          "protein_id": "ENSP00000262960.8",
          "strand": false,
          "transcript": "ENST00000262960.14",
          "transcript_support_level": 1
        },
        {
          "aa_alt": "N",
          "aa_end": null,
          "aa_length": 892,
          "aa_ref": "D",
          "aa_start": 707,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 4139,
          "cdna_start": 2244,
          "cds_end": null,
          "cds_length": 2679,
          "cds_start": 2119,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 21,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "NM_001384611.1",
          "gene_hgnc_id": 18648,
          "gene_symbol": "DPP9",
          "hgvs_c": "c.2119_2121delGACinsAAT",
          "hgvs_p": "p.Asp707Asn",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_001371540.1",
          "strand": false,
          "transcript": "NM_001384611.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "N",
          "aa_end": null,
          "aa_length": 892,
          "aa_ref": "D",
          "aa_start": 707,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 4383,
          "cdna_start": 2488,
          "cds_end": null,
          "cds_length": 2679,
          "cds_start": 2119,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 23,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "NM_001384612.1",
          "gene_hgnc_id": 18648,
          "gene_symbol": "DPP9",
          "hgvs_c": "c.2119_2121delGACinsAAT",
          "hgvs_p": "p.Asp707Asn",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_001371541.1",
          "strand": false,
          "transcript": "NM_001384612.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "N",
          "aa_end": null,
          "aa_length": 892,
          "aa_ref": "D",
          "aa_start": 707,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 4148,
          "cdna_start": 2253,
          "cds_end": null,
          "cds_length": 2679,
          "cds_start": 2119,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 22,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "NM_001384613.1",
          "gene_hgnc_id": 18648,
          "gene_symbol": "DPP9",
          "hgvs_c": "c.2119_2121delGACinsAAT",
          "hgvs_p": "p.Asp707Asn",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_001371542.1",
          "strand": false,
          "transcript": "NM_001384613.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "N",
          "aa_end": null,
          "aa_length": 892,
          "aa_ref": "D",
          "aa_start": 707,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 4081,
          "cdna_start": 2186,
          "cds_end": null,
          "cds_length": 2679,
          "cds_start": 2119,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 21,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "NM_001384614.1",
          "gene_hgnc_id": 18648,
          "gene_symbol": "DPP9",
          "hgvs_c": "c.2119_2121delGACinsAAT",
          "hgvs_p": "p.Asp707Asn",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_001371543.1",
          "strand": false,
          "transcript": "NM_001384614.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "N",
          "aa_end": null,
          "aa_length": 892,
          "aa_ref": "D",
          "aa_start": 707,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 4220,
          "cdna_start": 2325,
          "cds_end": null,
          "cds_length": 2679,
          "cds_start": 2119,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 21,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "NM_001384615.1",
          "gene_hgnc_id": 18648,
          "gene_symbol": "DPP9",
          "hgvs_c": "c.2119_2121delGACinsAAT",
          "hgvs_p": "p.Asp707Asn",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_001371544.1",
          "strand": false,
          "transcript": "NM_001384615.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "N",
          "aa_end": null,
          "aa_length": 892,
          "aa_ref": "D",
          "aa_start": 707,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 4229,
          "cdna_start": 2331,
          "cds_end": null,
          "cds_length": 2679,
          "cds_start": 2119,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 22,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000600621.6",
          "gene_hgnc_id": 18648,
          "gene_symbol": "DPP9",
          "hgvs_c": "c.2119_2121delGACinsAAT",
          "hgvs_p": "p.Asp707Asn",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000472549.2",
          "strand": false,
          "transcript": "ENST00000600621.6",
          "transcript_support_level": 4
        },
        {
          "aa_alt": "N",
          "aa_end": null,
          "aa_length": 892,
          "aa_ref": "D",
          "aa_start": 707,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 4387,
          "cdna_start": 2489,
          "cds_end": null,
          "cds_length": 2679,
          "cds_start": 2119,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 23,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000601130.6",
          "gene_hgnc_id": 18648,
          "gene_symbol": "DPP9",
          "hgvs_c": "c.2119_2121delGACinsAAT",
          "hgvs_p": "p.Asp707Asn",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000471629.2",
          "strand": false,
          "transcript": "ENST00000601130.6",
          "transcript_support_level": 4
        },
        {
          "aa_alt": "N",
          "aa_end": null,
          "aa_length": 892,
          "aa_ref": "D",
          "aa_start": 707,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 4212,
          "cdna_start": 2318,
          "cds_end": null,
          "cds_length": 2679,
          "cds_start": 2119,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 22,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000855533.1",
          "gene_hgnc_id": 18648,
          "gene_symbol": "DPP9",
          "hgvs_c": "c.2119_2121delGACinsAAT",
          "hgvs_p": "p.Asp707Asn",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000525592.1",
          "strand": false,
          "transcript": "ENST00000855533.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "N",
          "aa_end": null,
          "aa_length": 892,
          "aa_ref": "D",
          "aa_start": 707,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 3611,
          "cdna_start": 2428,
          "cds_end": null,
          "cds_length": 2679,
          "cds_start": 2119,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 23,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000855534.1",
          "gene_hgnc_id": 18648,
          "gene_symbol": "DPP9",
          "hgvs_c": "c.2119_2121delGACinsAAT",
          "hgvs_p": "p.Asp707Asn",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000525593.1",
          "strand": false,
          "transcript": "ENST00000855534.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "N",
          "aa_end": null,
          "aa_length": 890,
          "aa_ref": "D",
          "aa_start": 705,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 4267,
          "cdna_start": 2372,
          "cds_end": null,
          "cds_length": 2673,
          "cds_start": 2113,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 22,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "NM_001384617.1",
          "gene_hgnc_id": 18648,
          "gene_symbol": "DPP9",
          "hgvs_c": "c.2113_2115delGACinsAAT",
          "hgvs_p": "p.Asp705Asn",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_001371546.1",
          "strand": false,
          "transcript": "NM_001384617.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "N",
          "aa_end": null,
          "aa_length": 890,
          "aa_ref": "D",
          "aa_start": 705,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 4255,
          "cdna_start": 2360,
          "cds_end": null,
          "cds_length": 2673,
          "cds_start": 2113,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 22,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000855532.1",
          "gene_hgnc_id": 18648,
          "gene_symbol": "DPP9",
          "hgvs_c": "c.2113_2115delGACinsAAT",
          "hgvs_p": "p.Asp705Asn",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000525591.1",
          "strand": false,
          "transcript": "ENST00000855532.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "N",
          "aa_end": null,
          "aa_length": 890,
          "aa_ref": "D",
          "aa_start": 705,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 4247,
          "cdna_start": 2354,
          "cds_end": null,
          "cds_length": 2673,
          "cds_start": 2113,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 22,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000955625.1",
          "gene_hgnc_id": 18648,
          "gene_symbol": "DPP9",
          "hgvs_c": "c.2113_2115delGACinsAAT",
          "hgvs_p": "p.Asp705Asn",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000625684.1",
          "strand": false,
          "transcript": "ENST00000955625.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "N",
          "aa_end": null,
          "aa_length": 883,
          "aa_ref": "D",
          "aa_start": 698,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 4246,
          "cdna_start": 2351,
          "cds_end": null,
          "cds_length": 2652,
          "cds_start": 2092,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 22,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "NM_001384618.1",
          "gene_hgnc_id": 18648,
          "gene_symbol": "DPP9",
          "hgvs_c": "c.2092_2094delGACinsAAT",
          "hgvs_p": "p.Asp698Asn",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_001371547.1",
          "strand": false,
          "transcript": "NM_001384618.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "N",
          "aa_end": null,
          "aa_length": 881,
          "aa_ref": "D",
          "aa_start": 696,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 4240,
          "cdna_start": 2345,
          "cds_end": null,
          "cds_length": 2646,
          "cds_start": 2086,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 22,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "NM_001384619.1",
          "gene_hgnc_id": 18648,
          "gene_symbol": "DPP9",
          "hgvs_c": "c.2086_2088delGACinsAAT",
          "hgvs_p": "p.Asp696Asn",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_001371548.1",
          "strand": false,
          "transcript": "NM_001384619.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "N",
          "aa_end": null,
          "aa_length": 880,
          "aa_ref": "D",
          "aa_start": 695,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 4149,
          "cdna_start": 2254,
          "cds_end": null,
          "cds_length": 2643,
          "cds_start": 2083,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 22,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "ENST00000922035.1",
          "gene_hgnc_id": 18648,
          "gene_symbol": "DPP9",
          "hgvs_c": "c.2083_2085delGACinsAAT",
          "hgvs_p": "p.Asp695Asn",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "ENSP00000592094.1",
          "strand": false,
          "transcript": "ENST00000922035.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "N",
          "aa_end": null,
          "aa_length": 879,
          "aa_ref": "D",
          "aa_start": 694,
          "biotype": "protein_coding",
          "canonical": false,
          "cdna_end": null,
          "cdna_length": 4234,
          "cdna_start": 2339,
          "cds_end": null,
          "cds_length": 2640,
          "cds_start": 2080,
          "consequences": [
            "missense_variant"
          ],
          "exon_count": 22,
          "exon_rank": null,
          "exon_rank_end": null,
          "feature": "NM_001384620.1",
          "gene_hgnc_id": 18648,
          "gene_symbol": "DPP9",
          "hgvs_c": "c.2080_2082delGACinsAAT",
          "hgvs_p": "p.Asp694Asn",
          "intron_rank": null,
          "intron_rank_end": null,
          "mane_plus": null,
          "mane_select": null,
          "protein_coding": true,
          "protein_id": "NP_001371549.1",
          "strand": false,
          "transcript": "NM_001384620.1",
          "transcript_support_level": null
        },
        {
          "aa_alt": "N",
          "aa_end": null,
          "aa_length": 879,
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For research and educational, non-commercial use only. Not for clinical or diagnostic use. GeneBe does not provide medical advice. Data use for AI modeling is prohibited: if used, the cost is $0.001 per byte of downloaded uncompressed data.