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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: 16-16150208-C-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=16150208&ref=C&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "16",
      "pos": 16150208,
      "ref": "C",
      "alt": "G",
      "effect": "missense_variant",
      "transcript": "NM_001171.6",
      "consequences": [
        {
          "aa_ref": "E",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 31,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABCC6",
          "gene_hgnc_id": 57,
          "hgvs_c": "c.4437G>C",
          "hgvs_p": "p.Glu1479Asp",
          "transcript": "NM_001171.6",
          "protein_id": "NP_001162.5",
          "transcript_support_level": null,
          "aa_start": 1479,
          "aa_end": null,
          "aa_length": 1503,
          "cds_start": 4437,
          "cds_end": null,
          "cds_length": 4512,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000205557.12",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001171.6"
        },
        {
          "aa_ref": "E",
          "aa_alt": "D",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 31,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABCC6",
          "gene_hgnc_id": 57,
          "hgvs_c": "c.4437G>C",
          "hgvs_p": "p.Glu1479Asp",
          "transcript": "ENST00000205557.12",
          "protein_id": "ENSP00000205557.7",
          "transcript_support_level": 1,
          "aa_start": 1479,
          "aa_end": null,
          "aa_length": 1503,
          "cds_start": 4437,
          "cds_end": null,
          "cds_length": 4512,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001171.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000205557.12"
        },
        {
          "aa_ref": "E",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 32,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABCC6",
          "gene_hgnc_id": 57,
          "hgvs_c": "c.4533G>C",
          "hgvs_p": "p.Glu1511Asp",
          "transcript": "ENST00000909083.1",
          "protein_id": "ENSP00000579142.1",
          "transcript_support_level": null,
          "aa_start": 1511,
          "aa_end": null,
          "aa_length": 1535,
          "cds_start": 4533,
          "cds_end": null,
          "cds_length": 4608,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000909083.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 32,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABCC6",
          "gene_hgnc_id": 57,
          "hgvs_c": "c.4530G>C",
          "hgvs_p": "p.Glu1510Asp",
          "transcript": "ENST00000909090.1",
          "protein_id": "ENSP00000579149.1",
          "transcript_support_level": null,
          "aa_start": 1510,
          "aa_end": null,
          "aa_length": 1534,
          "cds_start": 4530,
          "cds_end": null,
          "cds_length": 4605,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000909090.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 32,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABCC6",
          "gene_hgnc_id": 57,
          "hgvs_c": "c.4527G>C",
          "hgvs_p": "p.Glu1509Asp",
          "transcript": "ENST00000909087.1",
          "protein_id": "ENSP00000579146.1",
          "transcript_support_level": null,
          "aa_start": 1509,
          "aa_end": null,
          "aa_length": 1533,
          "cds_start": 4527,
          "cds_end": null,
          "cds_length": 4602,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000909087.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 31,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABCC6",
          "gene_hgnc_id": 57,
          "hgvs_c": "c.4473G>C",
          "hgvs_p": "p.Glu1491Asp",
          "transcript": "ENST00000909096.1",
          "protein_id": "ENSP00000579155.1",
          "transcript_support_level": null,
          "aa_start": 1491,
          "aa_end": null,
          "aa_length": 1515,
          "cds_start": 4473,
          "cds_end": null,
          "cds_length": 4548,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000909096.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 31,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABCC6",
          "gene_hgnc_id": 57,
          "hgvs_c": "c.4461G>C",
          "hgvs_p": "p.Glu1487Asp",
          "transcript": "ENST00000909085.1",
          "protein_id": "ENSP00000579144.1",
          "transcript_support_level": null,
          "aa_start": 1487,
          "aa_end": null,
          "aa_length": 1511,
          "cds_start": 4461,
          "cds_end": null,
          "cds_length": 4536,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000909085.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 32,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABCC6",
          "gene_hgnc_id": 57,
          "hgvs_c": "c.4449G>C",
          "hgvs_p": "p.Glu1483Asp",
          "transcript": "ENST00000909097.1",
          "protein_id": "ENSP00000579156.1",
          "transcript_support_level": null,
          "aa_start": 1483,
          "aa_end": null,
          "aa_length": 1507,
          "cds_start": 4449,
          "cds_end": null,
          "cds_length": 4524,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000909097.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 31,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABCC6",
          "gene_hgnc_id": 57,
          "hgvs_c": "c.4404G>C",
          "hgvs_p": "p.Glu1468Asp",
          "transcript": "NM_001440309.1",
          "protein_id": "NP_001427238.1",
          "transcript_support_level": null,
          "aa_start": 1468,
          "aa_end": null,
          "aa_length": 1492,
          "cds_start": 4404,
          "cds_end": null,
          "cds_length": 4479,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001440309.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 31,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABCC6",
          "gene_hgnc_id": 57,
          "hgvs_c": "c.4404G>C",
          "hgvs_p": "p.Glu1468Asp",
          "transcript": "ENST00000909086.1",
          "protein_id": "ENSP00000579145.1",
          "transcript_support_level": null,
          "aa_start": 1468,
          "aa_end": null,
          "aa_length": 1492,
          "cds_start": 4404,
          "cds_end": null,
          "cds_length": 4479,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000909086.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 31,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABCC6",
          "gene_hgnc_id": 57,
          "hgvs_c": "c.4398G>C",
          "hgvs_p": "p.Glu1466Asp",
          "transcript": "ENST00000909094.1",
          "protein_id": "ENSP00000579153.1",
          "transcript_support_level": null,
          "aa_start": 1466,
          "aa_end": null,
          "aa_length": 1490,
          "cds_start": 4398,
          "cds_end": null,
          "cds_length": 4473,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000909094.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 31,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABCC6",
          "gene_hgnc_id": 57,
          "hgvs_c": "c.4386G>C",
          "hgvs_p": "p.Glu1462Asp",
          "transcript": "ENST00000909095.1",
          "protein_id": "ENSP00000579154.1",
          "transcript_support_level": null,
          "aa_start": 1462,
          "aa_end": null,
          "aa_length": 1486,
          "cds_start": 4386,
          "cds_end": null,
          "cds_length": 4461,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000909095.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 31,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABCC6",
          "gene_hgnc_id": 57,
          "hgvs_c": "c.4362G>C",
          "hgvs_p": "p.Glu1454Asp",
          "transcript": "ENST00000909091.1",
          "protein_id": "ENSP00000579150.1",
          "transcript_support_level": null,
          "aa_start": 1454,
          "aa_end": null,
          "aa_length": 1478,
          "cds_start": 4362,
          "cds_end": null,
          "cds_length": 4437,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000909091.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 31,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABCC6",
          "gene_hgnc_id": 57,
          "hgvs_c": "c.4356G>C",
          "hgvs_p": "p.Glu1452Asp",
          "transcript": "ENST00000909089.1",
          "protein_id": "ENSP00000579148.1",
          "transcript_support_level": null,
          "aa_start": 1452,
          "aa_end": null,
          "aa_length": 1476,
          "cds_start": 4356,
          "cds_end": null,
          "cds_length": 4431,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000909089.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABCC6",
          "gene_hgnc_id": 57,
          "hgvs_c": "c.4344G>C",
          "hgvs_p": "p.Glu1448Asp",
          "transcript": "ENST00000909092.1",
          "protein_id": "ENSP00000579151.1",
          "transcript_support_level": null,
          "aa_start": 1448,
          "aa_end": null,
          "aa_length": 1472,
          "cds_start": 4344,
          "cds_end": null,
          "cds_length": 4419,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000909092.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABCC6",
          "gene_hgnc_id": 57,
          "hgvs_c": "c.4335G>C",
          "hgvs_p": "p.Glu1445Asp",
          "transcript": "ENST00000946282.1",
          "protein_id": "ENSP00000616341.1",
          "transcript_support_level": null,
          "aa_start": 1445,
          "aa_end": null,
          "aa_length": 1469,
          "cds_start": 4335,
          "cds_end": null,
          "cds_length": 4410,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000946282.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABCC6",
          "gene_hgnc_id": 57,
          "hgvs_c": "c.4335G>C",
          "hgvs_p": "p.Glu1445Asp",
          "transcript": "ENST00000946285.1",
          "protein_id": "ENSP00000616344.1",
          "transcript_support_level": null,
          "aa_start": 1445,
          "aa_end": null,
          "aa_length": 1469,
          "cds_start": 4335,
          "cds_end": null,
          "cds_length": 4410,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000946285.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABCC6",
          "gene_hgnc_id": 57,
          "hgvs_c": "c.4311G>C",
          "hgvs_p": "p.Glu1437Asp",
          "transcript": "ENST00000909088.1",
          "protein_id": "ENSP00000579147.1",
          "transcript_support_level": null,
          "aa_start": 1437,
          "aa_end": null,
          "aa_length": 1461,
          "cds_start": 4311,
          "cds_end": null,
          "cds_length": 4386,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000909088.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABCC6",
          "gene_hgnc_id": 57,
          "hgvs_c": "c.4305G>C",
          "hgvs_p": "p.Glu1435Asp",
          "transcript": "ENST00000909093.1",
          "protein_id": "ENSP00000579152.1",
          "transcript_support_level": null,
          "aa_start": 1435,
          "aa_end": null,
          "aa_length": 1459,
          "cds_start": 4305,
          "cds_end": null,
          "cds_length": 4380,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000909093.1"
        },
        {
          "aa_ref": "E",
          "aa_alt": "D",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ABCC6",
          "gene_hgnc_id": 57,
          "hgvs_c": "c.4293G>C",
          "hgvs_p": "p.Glu1431Asp",
          "transcript": "ENST00000946284.1",
          "protein_id": "ENSP00000616343.1",
          "transcript_support_level": null,
          "aa_start": 1431,
          "aa_end": null,
          "aa_length": 1455,
          "cds_start": 4293,
          "cds_end": null,
          "cds_length": 4368,
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      "splice_source_selected": "max_spliceai",
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      "acmg_score": 4,
      "acmg_classification": "Uncertain_significance",
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      "acmg_by_gene": [
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          "score": 4,
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            "PP3_Moderate"
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          "verdict": "Uncertain_significance",
          "transcript": "NM_001171.6",
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      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}