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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: 4-73420256-TA-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=73420256&ref=TA&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "4",
      "pos": 73420256,
      "ref": "TA",
      "alt": "T",
      "effect": "frameshift_variant",
      "transcript": "NM_000477.7",
      "consequences": [
        {
          "aa_ref": "K",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALB",
          "gene_hgnc_id": 399,
          "hgvs_c": "c.1794delA",
          "hgvs_p": "p.Lys598fs",
          "transcript": "NM_000477.7",
          "protein_id": "NP_000468.1",
          "transcript_support_level": null,
          "aa_start": 598,
          "aa_end": null,
          "aa_length": 609,
          "cds_start": 1794,
          "cds_end": null,
          "cds_length": 1830,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000295897.9",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_000477.7"
        },
        {
          "aa_ref": "K",
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALB",
          "gene_hgnc_id": 399,
          "hgvs_c": "c.1794delA",
          "hgvs_p": "p.Lys598fs",
          "transcript": "ENST00000295897.9",
          "protein_id": "ENSP00000295897.4",
          "transcript_support_level": 1,
          "aa_start": 598,
          "aa_end": null,
          "aa_length": 609,
          "cds_start": 1794,
          "cds_end": null,
          "cds_length": 1830,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_000477.7",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000295897.9"
        },
        {
          "aa_ref": "K",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALB",
          "gene_hgnc_id": 399,
          "hgvs_c": "c.1218delA",
          "hgvs_p": "p.Lys406fs",
          "transcript": "ENST00000415165.6",
          "protein_id": "ENSP00000401820.2",
          "transcript_support_level": 1,
          "aa_start": 406,
          "aa_end": null,
          "aa_length": 417,
          "cds_start": 1218,
          "cds_end": null,
          "cds_length": 1254,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000415165.6"
        },
        {
          "aa_ref": "K",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALB",
          "gene_hgnc_id": 399,
          "hgvs_c": "c.1857delA",
          "hgvs_p": "p.Lys619fs",
          "transcript": "ENST00000876051.1",
          "protein_id": "ENSP00000546110.1",
          "transcript_support_level": null,
          "aa_start": 619,
          "aa_end": null,
          "aa_length": 630,
          "cds_start": 1857,
          "cds_end": null,
          "cds_length": 1893,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000876051.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALB",
          "gene_hgnc_id": 399,
          "hgvs_c": "c.1818delA",
          "hgvs_p": "p.Lys606fs",
          "transcript": "ENST00000876034.1",
          "protein_id": "ENSP00000546093.1",
          "transcript_support_level": null,
          "aa_start": 606,
          "aa_end": null,
          "aa_length": 617,
          "cds_start": 1818,
          "cds_end": null,
          "cds_length": 1854,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000876034.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALB",
          "gene_hgnc_id": 399,
          "hgvs_c": "c.1794delA",
          "hgvs_p": "p.Lys598fs",
          "transcript": "ENST00000876006.1",
          "protein_id": "ENSP00000546065.1",
          "transcript_support_level": null,
          "aa_start": 598,
          "aa_end": null,
          "aa_length": 609,
          "cds_start": 1794,
          "cds_end": null,
          "cds_length": 1830,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000876006.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALB",
          "gene_hgnc_id": 399,
          "hgvs_c": "c.1794delA",
          "hgvs_p": "p.Lys598fs",
          "transcript": "ENST00000876007.1",
          "protein_id": "ENSP00000546066.1",
          "transcript_support_level": null,
          "aa_start": 598,
          "aa_end": null,
          "aa_length": 609,
          "cds_start": 1794,
          "cds_end": null,
          "cds_length": 1830,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000876007.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALB",
          "gene_hgnc_id": 399,
          "hgvs_c": "c.1794delA",
          "hgvs_p": "p.Lys598fs",
          "transcript": "ENST00000876008.1",
          "protein_id": "ENSP00000546067.1",
          "transcript_support_level": null,
          "aa_start": 598,
          "aa_end": null,
          "aa_length": 609,
          "cds_start": 1794,
          "cds_end": null,
          "cds_length": 1830,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000876008.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALB",
          "gene_hgnc_id": 399,
          "hgvs_c": "c.1794delA",
          "hgvs_p": "p.Lys598fs",
          "transcript": "ENST00000876010.1",
          "protein_id": "ENSP00000546069.1",
          "transcript_support_level": null,
          "aa_start": 598,
          "aa_end": null,
          "aa_length": 609,
          "cds_start": 1794,
          "cds_end": null,
          "cds_length": 1830,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000876010.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALB",
          "gene_hgnc_id": 399,
          "hgvs_c": "c.1794delA",
          "hgvs_p": "p.Lys598fs",
          "transcript": "ENST00000876014.1",
          "protein_id": "ENSP00000546073.1",
          "transcript_support_level": null,
          "aa_start": 598,
          "aa_end": null,
          "aa_length": 609,
          "cds_start": 1794,
          "cds_end": null,
          "cds_length": 1830,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000876014.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALB",
          "gene_hgnc_id": 399,
          "hgvs_c": "c.1794delA",
          "hgvs_p": "p.Lys598fs",
          "transcript": "ENST00000876018.1",
          "protein_id": "ENSP00000546077.1",
          "transcript_support_level": null,
          "aa_start": 598,
          "aa_end": null,
          "aa_length": 609,
          "cds_start": 1794,
          "cds_end": null,
          "cds_length": 1830,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000876018.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALB",
          "gene_hgnc_id": 399,
          "hgvs_c": "c.1794delA",
          "hgvs_p": "p.Lys598fs",
          "transcript": "ENST00000876019.1",
          "protein_id": "ENSP00000546078.1",
          "transcript_support_level": null,
          "aa_start": 598,
          "aa_end": null,
          "aa_length": 609,
          "cds_start": 1794,
          "cds_end": null,
          "cds_length": 1830,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000876019.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALB",
          "gene_hgnc_id": 399,
          "hgvs_c": "c.1794delA",
          "hgvs_p": "p.Lys598fs",
          "transcript": "ENST00000876041.1",
          "protein_id": "ENSP00000546100.1",
          "transcript_support_level": null,
          "aa_start": 598,
          "aa_end": null,
          "aa_length": 609,
          "cds_start": 1794,
          "cds_end": null,
          "cds_length": 1830,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000876041.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALB",
          "gene_hgnc_id": 399,
          "hgvs_c": "c.1794delA",
          "hgvs_p": "p.Lys598fs",
          "transcript": "ENST00000876047.1",
          "protein_id": "ENSP00000546106.1",
          "transcript_support_level": null,
          "aa_start": 598,
          "aa_end": null,
          "aa_length": 609,
          "cds_start": 1794,
          "cds_end": null,
          "cds_length": 1830,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000876047.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALB",
          "gene_hgnc_id": 399,
          "hgvs_c": "c.1794delA",
          "hgvs_p": "p.Lys598fs",
          "transcript": "ENST00000876049.1",
          "protein_id": "ENSP00000546108.1",
          "transcript_support_level": null,
          "aa_start": 598,
          "aa_end": null,
          "aa_length": 609,
          "cds_start": 1794,
          "cds_end": null,
          "cds_length": 1830,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000876049.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALB",
          "gene_hgnc_id": 399,
          "hgvs_c": "c.1770delA",
          "hgvs_p": "p.Lys590fs",
          "transcript": "ENST00000876024.1",
          "protein_id": "ENSP00000546083.1",
          "transcript_support_level": null,
          "aa_start": 590,
          "aa_end": null,
          "aa_length": 601,
          "cds_start": 1770,
          "cds_end": null,
          "cds_length": 1806,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000876024.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALB",
          "gene_hgnc_id": 399,
          "hgvs_c": "c.1767delA",
          "hgvs_p": "p.Lys589fs",
          "transcript": "ENST00000876042.1",
          "protein_id": "ENSP00000546101.1",
          "transcript_support_level": null,
          "aa_start": 589,
          "aa_end": null,
          "aa_length": 600,
          "cds_start": 1767,
          "cds_end": null,
          "cds_length": 1803,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000876042.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALB",
          "gene_hgnc_id": 399,
          "hgvs_c": "c.1764delA",
          "hgvs_p": "p.Lys588fs",
          "transcript": "ENST00000876050.1",
          "protein_id": "ENSP00000546109.1",
          "transcript_support_level": null,
          "aa_start": 588,
          "aa_end": null,
          "aa_length": 599,
          "cds_start": 1764,
          "cds_end": null,
          "cds_length": 1800,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000876050.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALB",
          "gene_hgnc_id": 399,
          "hgvs_c": "c.1755delA",
          "hgvs_p": "p.Lys585fs",
          "transcript": "ENST00000876031.1",
          "protein_id": "ENSP00000546090.1",
          "transcript_support_level": null,
          "aa_start": 585,
          "aa_end": null,
          "aa_length": 596,
          "cds_start": 1755,
          "cds_end": null,
          "cds_length": 1791,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000876031.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "frameshift_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALB",
          "gene_hgnc_id": 399,
          "hgvs_c": "c.1749delA",
          "hgvs_p": "p.Lys583fs",
          "transcript": "ENST00000876045.1",
          "protein_id": "ENSP00000546104.1",
          "transcript_support_level": null,
          "aa_start": 583,
          "aa_end": null,
          "aa_length": 594,
          "cds_start": 1749,
          "cds_end": null,
          "cds_length": 1785,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000876045.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": null,
          "canonical": false,
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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
}
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