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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: 4-73419522-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=73419522&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "4",
      "pos": 73419522,
      "ref": "C",
      "alt": "T",
      "effect": "synonymous_variant",
      "transcript": "NM_000477.7",
      "consequences": [
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALB",
          "gene_hgnc_id": 399,
          "hgvs_c": "c.1668C>T",
          "hgvs_p": "p.Leu556Leu",
          "transcript": "NM_000477.7",
          "protein_id": "NP_000468.1",
          "transcript_support_level": null,
          "aa_start": 556,
          "aa_end": null,
          "aa_length": 609,
          "cds_start": 1668,
          "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": "L",
          "aa_alt": "L",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALB",
          "gene_hgnc_id": 399,
          "hgvs_c": "c.1668C>T",
          "hgvs_p": "p.Leu556Leu",
          "transcript": "ENST00000295897.9",
          "protein_id": "ENSP00000295897.4",
          "transcript_support_level": 1,
          "aa_start": 556,
          "aa_end": null,
          "aa_length": 609,
          "cds_start": 1668,
          "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": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 9,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALB",
          "gene_hgnc_id": 399,
          "hgvs_c": "c.1092C>T",
          "hgvs_p": "p.Leu364Leu",
          "transcript": "ENST00000415165.6",
          "protein_id": "ENSP00000401820.2",
          "transcript_support_level": 1,
          "aa_start": 364,
          "aa_end": null,
          "aa_length": 417,
          "cds_start": 1092,
          "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": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALB",
          "gene_hgnc_id": 399,
          "hgvs_c": "c.1731C>T",
          "hgvs_p": "p.Leu577Leu",
          "transcript": "ENST00000876051.1",
          "protein_id": "ENSP00000546110.1",
          "transcript_support_level": null,
          "aa_start": 577,
          "aa_end": null,
          "aa_length": 630,
          "cds_start": 1731,
          "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": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALB",
          "gene_hgnc_id": 399,
          "hgvs_c": "c.1692C>T",
          "hgvs_p": "p.Leu564Leu",
          "transcript": "ENST00000876034.1",
          "protein_id": "ENSP00000546093.1",
          "transcript_support_level": null,
          "aa_start": 564,
          "aa_end": null,
          "aa_length": 617,
          "cds_start": 1692,
          "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": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALB",
          "gene_hgnc_id": 399,
          "hgvs_c": "c.1668C>T",
          "hgvs_p": "p.Leu556Leu",
          "transcript": "ENST00000876006.1",
          "protein_id": "ENSP00000546065.1",
          "transcript_support_level": null,
          "aa_start": 556,
          "aa_end": null,
          "aa_length": 609,
          "cds_start": 1668,
          "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": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALB",
          "gene_hgnc_id": 399,
          "hgvs_c": "c.1668C>T",
          "hgvs_p": "p.Leu556Leu",
          "transcript": "ENST00000876007.1",
          "protein_id": "ENSP00000546066.1",
          "transcript_support_level": null,
          "aa_start": 556,
          "aa_end": null,
          "aa_length": 609,
          "cds_start": 1668,
          "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": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALB",
          "gene_hgnc_id": 399,
          "hgvs_c": "c.1668C>T",
          "hgvs_p": "p.Leu556Leu",
          "transcript": "ENST00000876008.1",
          "protein_id": "ENSP00000546067.1",
          "transcript_support_level": null,
          "aa_start": 556,
          "aa_end": null,
          "aa_length": 609,
          "cds_start": 1668,
          "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": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALB",
          "gene_hgnc_id": 399,
          "hgvs_c": "c.1668C>T",
          "hgvs_p": "p.Leu556Leu",
          "transcript": "ENST00000876010.1",
          "protein_id": "ENSP00000546069.1",
          "transcript_support_level": null,
          "aa_start": 556,
          "aa_end": null,
          "aa_length": 609,
          "cds_start": 1668,
          "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": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALB",
          "gene_hgnc_id": 399,
          "hgvs_c": "c.1668C>T",
          "hgvs_p": "p.Leu556Leu",
          "transcript": "ENST00000876014.1",
          "protein_id": "ENSP00000546073.1",
          "transcript_support_level": null,
          "aa_start": 556,
          "aa_end": null,
          "aa_length": 609,
          "cds_start": 1668,
          "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": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALB",
          "gene_hgnc_id": 399,
          "hgvs_c": "c.1668C>T",
          "hgvs_p": "p.Leu556Leu",
          "transcript": "ENST00000876018.1",
          "protein_id": "ENSP00000546077.1",
          "transcript_support_level": null,
          "aa_start": 556,
          "aa_end": null,
          "aa_length": 609,
          "cds_start": 1668,
          "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": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALB",
          "gene_hgnc_id": 399,
          "hgvs_c": "c.1668C>T",
          "hgvs_p": "p.Leu556Leu",
          "transcript": "ENST00000876019.1",
          "protein_id": "ENSP00000546078.1",
          "transcript_support_level": null,
          "aa_start": 556,
          "aa_end": null,
          "aa_length": 609,
          "cds_start": 1668,
          "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": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALB",
          "gene_hgnc_id": 399,
          "hgvs_c": "c.1668C>T",
          "hgvs_p": "p.Leu556Leu",
          "transcript": "ENST00000876041.1",
          "protein_id": "ENSP00000546100.1",
          "transcript_support_level": null,
          "aa_start": 556,
          "aa_end": null,
          "aa_length": 609,
          "cds_start": 1668,
          "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": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALB",
          "gene_hgnc_id": 399,
          "hgvs_c": "c.1668C>T",
          "hgvs_p": "p.Leu556Leu",
          "transcript": "ENST00000876047.1",
          "protein_id": "ENSP00000546106.1",
          "transcript_support_level": null,
          "aa_start": 556,
          "aa_end": null,
          "aa_length": 609,
          "cds_start": 1668,
          "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": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
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          "exon_count": 15,
          "intron_rank": null,
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          "gene_symbol": "ALB",
          "gene_hgnc_id": 399,
          "hgvs_c": "c.1668C>T",
          "hgvs_p": "p.Leu556Leu",
          "transcript": "ENST00000876049.1",
          "protein_id": "ENSP00000546108.1",
          "transcript_support_level": null,
          "aa_start": 556,
          "aa_end": null,
          "aa_length": 609,
          "cds_start": 1668,
          "cds_end": null,
          "cds_length": 1830,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000876049.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALB",
          "gene_hgnc_id": 399,
          "hgvs_c": "c.1668C>T",
          "hgvs_p": "p.Leu556Leu",
          "transcript": "ENST00000509063.5",
          "protein_id": "ENSP00000422784.1",
          "transcript_support_level": 5,
          "aa_start": 556,
          "aa_end": null,
          "aa_length": 604,
          "cds_start": 1668,
          "cds_end": null,
          "cds_length": 1815,
          "cdna_start": null,
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          "cdna_length": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000509063.5"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALB",
          "gene_hgnc_id": 399,
          "hgvs_c": "c.1644C>T",
          "hgvs_p": "p.Leu548Leu",
          "transcript": "ENST00000876024.1",
          "protein_id": "ENSP00000546083.1",
          "transcript_support_level": null,
          "aa_start": 548,
          "aa_end": null,
          "aa_length": 601,
          "cds_start": 1644,
          "cds_end": null,
          "cds_length": 1806,
          "cdna_start": null,
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          "cdna_length": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 13,
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          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALB",
          "gene_hgnc_id": 399,
          "hgvs_c": "c.1641C>T",
          "hgvs_p": "p.Leu547Leu",
          "transcript": "ENST00000876042.1",
          "protein_id": "ENSP00000546101.1",
          "transcript_support_level": null,
          "aa_start": 547,
          "aa_end": null,
          "aa_length": 600,
          "cds_start": 1641,
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          "cds_length": 1803,
          "cdna_start": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000876042.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
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          "gene_symbol": "ALB",
          "gene_hgnc_id": 399,
          "hgvs_c": "c.1638C>T",
          "hgvs_p": "p.Leu546Leu",
          "transcript": "ENST00000876050.1",
          "protein_id": "ENSP00000546109.1",
          "transcript_support_level": null,
          "aa_start": 546,
          "aa_end": null,
          "aa_length": 599,
          "cds_start": 1638,
          "cds_end": null,
          "cds_length": 1800,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000876050.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "L",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ALB",
          "gene_hgnc_id": 399,
          "hgvs_c": "c.1629C>T",
          "hgvs_p": "p.Leu543Leu",
          "transcript": "ENST00000876031.1",
          "protein_id": "ENSP00000546090.1",
          "transcript_support_level": null,
          "aa_start": 543,
          "aa_end": null,
          "aa_length": 596,
          "cds_start": 1629,
          "cds_end": null,
          "cds_length": 1791,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000876031.1"
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      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 0,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
      "dbscsnv_ada_score": null,
      "dbscsnv_ada_prediction": null,
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": -19,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BA1",
      "acmg_by_gene": [
        {
          "score": -19,
          "benign_score": 19,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Moderate",
            "BP6_Very_Strong",
            "BP7",
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "NM_000477.7",
          "gene_symbol": "ALB",
          "hgnc_id": 399,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "AR,AD",
          "hgvs_c": "c.1668C>T",
          "hgvs_p": "p.Leu556Leu"
        }
      ],
      "clinvar_disease": " familial dysalbuminemic,Hyperthyroxinemia,not provided",
      "clinvar_classification": "Benign",
      "clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
      "clinvar_submissions_summary": "B:3",
      "phenotype_combined": "Hyperthyroxinemia, familial dysalbuminemic|not provided",
      "pathogenicity_classification_combined": "Benign",
      "custom_annotations": null
    }
  ],
  "message": null
}