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GeneBe API Showcase

This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.

API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.

Documentation & Advanced Usage

Complete API documentation:docs.genebe.net/docs/api/overview/

Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/

Python client for pandas:pypi.org/project/genebe/

Java CLI for VCF files:github.com/pstawinski/genebe-cli

All tools documented at:docs.genebe.net

API Request Examples for Variant: 6-17421557-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=17421557&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "6",
      "pos": 17421557,
      "ref": "T",
      "alt": "C",
      "effect": "start_lost,splice_region_variant",
      "transcript": "NM_006366.3",
      "consequences": [
        {
          "aa_ref": "M",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "start_lost",
            "splice_region_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CAP2",
          "gene_hgnc_id": 20039,
          "hgvs_c": "c.2T>C",
          "hgvs_p": "p.Met1?",
          "transcript": "NM_006366.3",
          "protein_id": "NP_006357.1",
          "transcript_support_level": null,
          "aa_start": 1,
          "aa_end": null,
          "aa_length": 477,
          "cds_start": 2,
          "cds_end": null,
          "cds_length": 1434,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000229922.7",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_006366.3"
        },
        {
          "aa_ref": "M",
          "aa_alt": "T",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "start_lost",
            "splice_region_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CAP2",
          "gene_hgnc_id": 20039,
          "hgvs_c": "c.2T>C",
          "hgvs_p": "p.Met1?",
          "transcript": "ENST00000229922.7",
          "protein_id": "ENSP00000229922.2",
          "transcript_support_level": 1,
          "aa_start": 1,
          "aa_end": null,
          "aa_length": 477,
          "cds_start": 2,
          "cds_end": null,
          "cds_length": 1434,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_006366.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000229922.7"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CAP2",
          "gene_hgnc_id": 20039,
          "hgvs_c": "n.2T>C",
          "hgvs_p": null,
          "transcript": "ENST00000479291.5",
          "protein_id": "ENSP00000420615.1",
          "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": "ENST00000479291.5"
        },
        {
          "aa_ref": "M",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "start_lost",
            "splice_region_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CAP2",
          "gene_hgnc_id": 20039,
          "hgvs_c": "c.2T>C",
          "hgvs_p": "p.Met1?",
          "transcript": "ENST00000857692.1",
          "protein_id": "ENSP00000527751.1",
          "transcript_support_level": null,
          "aa_start": 1,
          "aa_end": null,
          "aa_length": 520,
          "cds_start": 2,
          "cds_end": null,
          "cds_length": 1563,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000857692.1"
        },
        {
          "aa_ref": "M",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "start_lost",
            "splice_region_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CAP2",
          "gene_hgnc_id": 20039,
          "hgvs_c": "c.2T>C",
          "hgvs_p": "p.Met1?",
          "transcript": "ENST00000857694.1",
          "protein_id": "ENSP00000527753.1",
          "transcript_support_level": null,
          "aa_start": 1,
          "aa_end": null,
          "aa_length": 508,
          "cds_start": 2,
          "cds_end": null,
          "cds_length": 1527,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000857694.1"
        },
        {
          "aa_ref": "M",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "start_lost",
            "splice_region_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CAP2",
          "gene_hgnc_id": 20039,
          "hgvs_c": "c.2T>C",
          "hgvs_p": "p.Met1?",
          "transcript": "ENST00000940430.1",
          "protein_id": "ENSP00000610489.1",
          "transcript_support_level": null,
          "aa_start": 1,
          "aa_end": null,
          "aa_length": 494,
          "cds_start": 2,
          "cds_end": null,
          "cds_length": 1485,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000940430.1"
        },
        {
          "aa_ref": "M",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "start_lost",
            "splice_region_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CAP2",
          "gene_hgnc_id": 20039,
          "hgvs_c": "c.2T>C",
          "hgvs_p": "p.Met1?",
          "transcript": "ENST00000857695.1",
          "protein_id": "ENSP00000527754.1",
          "transcript_support_level": null,
          "aa_start": 1,
          "aa_end": null,
          "aa_length": 477,
          "cds_start": 2,
          "cds_end": null,
          "cds_length": 1434,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000857695.1"
        },
        {
          "aa_ref": "M",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "start_lost",
            "splice_region_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CAP2",
          "gene_hgnc_id": 20039,
          "hgvs_c": "c.2T>C",
          "hgvs_p": "p.Met1?",
          "transcript": "ENST00000857697.1",
          "protein_id": "ENSP00000527756.1",
          "transcript_support_level": null,
          "aa_start": 1,
          "aa_end": null,
          "aa_length": 477,
          "cds_start": 2,
          "cds_end": null,
          "cds_length": 1434,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000857697.1"
        },
        {
          "aa_ref": "M",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "start_lost",
            "splice_region_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CAP2",
          "gene_hgnc_id": 20039,
          "hgvs_c": "c.2T>C",
          "hgvs_p": "p.Met1?",
          "transcript": "ENST00000950869.1",
          "protein_id": "ENSP00000620928.1",
          "transcript_support_level": null,
          "aa_start": 1,
          "aa_end": null,
          "aa_length": 477,
          "cds_start": 2,
          "cds_end": null,
          "cds_length": 1434,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000950869.1"
        },
        {
          "aa_ref": "M",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "start_lost",
            "splice_region_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CAP2",
          "gene_hgnc_id": 20039,
          "hgvs_c": "c.2T>C",
          "hgvs_p": "p.Met1?",
          "transcript": "ENST00000940429.1",
          "protein_id": "ENSP00000610488.1",
          "transcript_support_level": null,
          "aa_start": 1,
          "aa_end": null,
          "aa_length": 476,
          "cds_start": 2,
          "cds_end": null,
          "cds_length": 1431,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000940429.1"
        },
        {
          "aa_ref": "M",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "start_lost",
            "splice_region_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CAP2",
          "gene_hgnc_id": 20039,
          "hgvs_c": "c.2T>C",
          "hgvs_p": "p.Met1?",
          "transcript": "ENST00000950865.1",
          "protein_id": "ENSP00000620924.1",
          "transcript_support_level": null,
          "aa_start": 1,
          "aa_end": null,
          "aa_length": 476,
          "cds_start": 2,
          "cds_end": null,
          "cds_length": 1431,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000950865.1"
        },
        {
          "aa_ref": "M",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "start_lost",
            "splice_region_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CAP2",
          "gene_hgnc_id": 20039,
          "hgvs_c": "c.2T>C",
          "hgvs_p": "p.Met1?",
          "transcript": "ENST00000950867.1",
          "protein_id": "ENSP00000620926.1",
          "transcript_support_level": null,
          "aa_start": 1,
          "aa_end": null,
          "aa_length": 476,
          "cds_start": 2,
          "cds_end": null,
          "cds_length": 1431,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000950867.1"
        },
        {
          "aa_ref": "M",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "start_lost",
            "splice_region_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CAP2",
          "gene_hgnc_id": 20039,
          "hgvs_c": "c.2T>C",
          "hgvs_p": "p.Met1?",
          "transcript": "ENST00000857703.1",
          "protein_id": "ENSP00000527762.1",
          "transcript_support_level": null,
          "aa_start": 1,
          "aa_end": null,
          "aa_length": 473,
          "cds_start": 2,
          "cds_end": null,
          "cds_length": 1422,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000857703.1"
        },
        {
          "aa_ref": "M",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "start_lost",
            "splice_region_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CAP2",
          "gene_hgnc_id": 20039,
          "hgvs_c": "c.2T>C",
          "hgvs_p": "p.Met1?",
          "transcript": "NM_001363534.2",
          "protein_id": "NP_001350463.1",
          "transcript_support_level": null,
          "aa_start": 1,
          "aa_end": null,
          "aa_length": 451,
          "cds_start": 2,
          "cds_end": null,
          "cds_length": 1356,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001363534.2"
        },
        {
          "aa_ref": "M",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "start_lost",
            "splice_region_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CAP2",
          "gene_hgnc_id": 20039,
          "hgvs_c": "c.2T>C",
          "hgvs_p": "p.Met1?",
          "transcript": "ENST00000378990.6",
          "protein_id": "ENSP00000368275.2",
          "transcript_support_level": 2,
          "aa_start": 1,
          "aa_end": null,
          "aa_length": 451,
          "cds_start": 2,
          "cds_end": null,
          "cds_length": 1356,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000378990.6"
        },
        {
          "aa_ref": "M",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "start_lost",
            "splice_region_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CAP2",
          "gene_hgnc_id": 20039,
          "hgvs_c": "c.2T>C",
          "hgvs_p": "p.Met1?",
          "transcript": "ENST00000857698.1",
          "protein_id": "ENSP00000527757.1",
          "transcript_support_level": null,
          "aa_start": 1,
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          "aa_length": 451,
          "cds_start": 2,
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          "cds_length": 1356,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000857698.1"
        },
        {
          "aa_ref": "M",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "start_lost",
            "splice_region_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CAP2",
          "gene_hgnc_id": 20039,
          "hgvs_c": "c.2T>C",
          "hgvs_p": "p.Met1?",
          "transcript": "ENST00000857700.1",
          "protein_id": "ENSP00000527759.1",
          "transcript_support_level": null,
          "aa_start": 1,
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          "aa_length": 430,
          "cds_start": 2,
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          "cds_length": 1293,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000857700.1"
        },
        {
          "aa_ref": "M",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "start_lost",
            "splice_region_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CAP2",
          "gene_hgnc_id": 20039,
          "hgvs_c": "c.2T>C",
          "hgvs_p": "p.Met1?",
          "transcript": "ENST00000950866.1",
          "protein_id": "ENSP00000620925.1",
          "transcript_support_level": null,
          "aa_start": 1,
          "aa_end": null,
          "aa_length": 429,
          "cds_start": 2,
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          "cds_length": 1290,
          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000950866.1"
        },
        {
          "aa_ref": "M",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "start_lost",
            "splice_region_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CAP2",
          "gene_hgnc_id": 20039,
          "hgvs_c": "c.2T>C",
          "hgvs_p": "p.Met1?",
          "transcript": "ENST00000857701.1",
          "protein_id": "ENSP00000527760.1",
          "transcript_support_level": null,
          "aa_start": 1,
          "aa_end": null,
          "aa_length": 415,
          "cds_start": 2,
          "cds_end": null,
          "cds_length": 1248,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000857701.1"
        },
        {
          "aa_ref": "M",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "start_lost",
            "splice_region_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CAP2",
          "gene_hgnc_id": 20039,
          "hgvs_c": "c.2T>C",
          "hgvs_p": "p.Met1?",
          "transcript": "ENST00000465994.5",
          "protein_id": "ENSP00000418604.1",
          "transcript_support_level": 2,
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      "bayesdelnoaf_score": 0.04,
      "bayesdelnoaf_prediction": "Uncertain_significance",
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      "acmg_score": 0,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "",
      "acmg_by_gene": [
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      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "US:1",
      "phenotype_combined": "Cardiomyopathy, dilated, 2I",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
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}