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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: 13-77613943-A-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=77613943&ref=A&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "13",
      "pos": 77613943,
      "ref": "A",
      "alt": "G",
      "effect": "missense_variant",
      "transcript": "NM_144777.3",
      "consequences": [
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 24,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SCEL",
          "gene_hgnc_id": 10573,
          "hgvs_c": "c.1439A>G",
          "hgvs_p": "p.Lys480Arg",
          "transcript": "NM_144777.3",
          "protein_id": "NP_659001.2",
          "transcript_support_level": null,
          "aa_start": 480,
          "aa_end": null,
          "aa_length": 688,
          "cds_start": 1439,
          "cds_end": null,
          "cds_length": 2067,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000349847.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_144777.3"
        },
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 24,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SCEL",
          "gene_hgnc_id": 10573,
          "hgvs_c": "c.1439A>G",
          "hgvs_p": "p.Lys480Arg",
          "transcript": "ENST00000349847.4",
          "protein_id": "ENSP00000302579.5",
          "transcript_support_level": 1,
          "aa_start": 480,
          "aa_end": null,
          "aa_length": 688,
          "cds_start": 1439,
          "cds_end": null,
          "cds_length": 2067,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_144777.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000349847.4"
        },
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SCEL",
          "gene_hgnc_id": 10573,
          "hgvs_c": "c.1379A>G",
          "hgvs_p": "p.Lys460Arg",
          "transcript": "ENST00000377246.7",
          "protein_id": "ENSP00000366454.3",
          "transcript_support_level": 1,
          "aa_start": 460,
          "aa_end": null,
          "aa_length": 668,
          "cds_start": 1379,
          "cds_end": null,
          "cds_length": 2007,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000377246.7"
        },
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 24,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SCEL",
          "gene_hgnc_id": 10573,
          "hgvs_c": "c.1436A>G",
          "hgvs_p": "p.Lys479Arg",
          "transcript": "ENST00000856158.1",
          "protein_id": "ENSP00000526217.1",
          "transcript_support_level": null,
          "aa_start": 479,
          "aa_end": null,
          "aa_length": 687,
          "cds_start": 1436,
          "cds_end": null,
          "cds_length": 2064,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000856158.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 24,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SCEL",
          "gene_hgnc_id": 10573,
          "hgvs_c": "c.1436A>G",
          "hgvs_p": "p.Lys479Arg",
          "transcript": "ENST00000856162.1",
          "protein_id": "ENSP00000526221.1",
          "transcript_support_level": null,
          "aa_start": 479,
          "aa_end": null,
          "aa_length": 687,
          "cds_start": 1436,
          "cds_end": null,
          "cds_length": 2064,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000856162.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 24,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SCEL",
          "gene_hgnc_id": 10573,
          "hgvs_c": "c.1433A>G",
          "hgvs_p": "p.Lys478Arg",
          "transcript": "ENST00000965443.1",
          "protein_id": "ENSP00000635502.1",
          "transcript_support_level": null,
          "aa_start": 478,
          "aa_end": null,
          "aa_length": 686,
          "cds_start": 1433,
          "cds_end": null,
          "cds_length": 2061,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000965443.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 33,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SCEL",
          "gene_hgnc_id": 10573,
          "hgvs_c": "c.1379A>G",
          "hgvs_p": "p.Lys460Arg",
          "transcript": "ENST00000965440.1",
          "protein_id": "ENSP00000635499.1",
          "transcript_support_level": null,
          "aa_start": 460,
          "aa_end": null,
          "aa_length": 681,
          "cds_start": 1379,
          "cds_end": null,
          "cds_length": 2046,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000965440.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SCEL",
          "gene_hgnc_id": 10573,
          "hgvs_c": "c.1400A>G",
          "hgvs_p": "p.Lys467Arg",
          "transcript": "ENST00000856139.1",
          "protein_id": "ENSP00000526198.1",
          "transcript_support_level": null,
          "aa_start": 467,
          "aa_end": null,
          "aa_length": 675,
          "cds_start": 1400,
          "cds_end": null,
          "cds_length": 2028,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000856139.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SCEL",
          "gene_hgnc_id": 10573,
          "hgvs_c": "c.1379A>G",
          "hgvs_p": "p.Lys460Arg",
          "transcript": "NM_003843.4",
          "protein_id": "NP_003834.3",
          "transcript_support_level": null,
          "aa_start": 460,
          "aa_end": null,
          "aa_length": 668,
          "cds_start": 1379,
          "cds_end": null,
          "cds_length": 2007,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_003843.4"
        },
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SCEL",
          "gene_hgnc_id": 10573,
          "hgvs_c": "c.1379A>G",
          "hgvs_p": "p.Lys460Arg",
          "transcript": "ENST00000856144.1",
          "protein_id": "ENSP00000526203.1",
          "transcript_support_level": null,
          "aa_start": 460,
          "aa_end": null,
          "aa_length": 668,
          "cds_start": 1379,
          "cds_end": null,
          "cds_length": 2007,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000856144.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SCEL",
          "gene_hgnc_id": 10573,
          "hgvs_c": "c.1376A>G",
          "hgvs_p": "p.Lys459Arg",
          "transcript": "ENST00000856183.1",
          "protein_id": "ENSP00000526242.1",
          "transcript_support_level": null,
          "aa_start": 459,
          "aa_end": null,
          "aa_length": 667,
          "cds_start": 1376,
          "cds_end": null,
          "cds_length": 2004,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000856183.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SCEL",
          "gene_hgnc_id": 10573,
          "hgvs_c": "c.1373A>G",
          "hgvs_p": "p.Lys458Arg",
          "transcript": "ENST00000856156.1",
          "protein_id": "ENSP00000526215.1",
          "transcript_support_level": null,
          "aa_start": 458,
          "aa_end": null,
          "aa_length": 666,
          "cds_start": 1373,
          "cds_end": null,
          "cds_length": 2001,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000856156.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SCEL",
          "gene_hgnc_id": 10573,
          "hgvs_c": "c.1370A>G",
          "hgvs_p": "p.Lys457Arg",
          "transcript": "ENST00000856170.1",
          "protein_id": "ENSP00000526229.1",
          "transcript_support_level": null,
          "aa_start": 457,
          "aa_end": null,
          "aa_length": 665,
          "cds_start": 1370,
          "cds_end": null,
          "cds_length": 1998,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000856170.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SCEL",
          "gene_hgnc_id": 10573,
          "hgvs_c": "c.1367A>G",
          "hgvs_p": "p.Lys456Arg",
          "transcript": "ENST00000965414.1",
          "protein_id": "ENSP00000635473.1",
          "transcript_support_level": null,
          "aa_start": 456,
          "aa_end": null,
          "aa_length": 664,
          "cds_start": 1367,
          "cds_end": null,
          "cds_length": 1995,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000965414.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SCEL",
          "gene_hgnc_id": 10573,
          "hgvs_c": "c.1367A>G",
          "hgvs_p": "p.Lys456Arg",
          "transcript": "ENST00000965424.1",
          "protein_id": "ENSP00000635483.1",
          "transcript_support_level": null,
          "aa_start": 456,
          "aa_end": null,
          "aa_length": 664,
          "cds_start": 1367,
          "cds_end": null,
          "cds_length": 1995,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000965424.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 23,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SCEL",
          "gene_hgnc_id": 10573,
          "hgvs_c": "c.1367A>G",
          "hgvs_p": "p.Lys456Arg",
          "transcript": "ENST00000965431.1",
          "protein_id": "ENSP00000635490.1",
          "transcript_support_level": null,
          "aa_start": 456,
          "aa_end": null,
          "aa_length": 664,
          "cds_start": 1367,
          "cds_end": null,
          "cds_length": 1995,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000965431.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SCEL",
          "gene_hgnc_id": 10573,
          "hgvs_c": "c.1367A>G",
          "hgvs_p": "p.Lys456Arg",
          "transcript": "ENST00000965441.1",
          "protein_id": "ENSP00000635500.1",
          "transcript_support_level": null,
          "aa_start": 456,
          "aa_end": null,
          "aa_length": 664,
          "cds_start": 1367,
          "cds_end": null,
          "cds_length": 1995,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SCEL",
          "gene_hgnc_id": 10573,
          "hgvs_c": "c.1331A>G",
          "hgvs_p": "p.Lys444Arg",
          "transcript": "ENST00000856188.1",
          "protein_id": "ENSP00000526247.1",
          "transcript_support_level": null,
          "aa_start": 444,
          "aa_end": null,
          "aa_length": 652,
          "cds_start": 1331,
          "cds_end": null,
          "cds_length": 1959,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000856188.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 24,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SCEL",
          "gene_hgnc_id": 10573,
          "hgvs_c": "c.1439A>G",
          "hgvs_p": "p.Lys480Arg",
          "transcript": "ENST00000856137.1",
          "protein_id": "ENSP00000526196.1",
          "transcript_support_level": null,
          "aa_start": 480,
          "aa_end": null,
          "aa_length": 649,
          "cds_start": 1439,
          "cds_end": null,
          "cds_length": 1950,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000856137.1"
        },
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SCEL",
          "gene_hgnc_id": 10573,
          "hgvs_c": "c.1319A>G",
          "hgvs_p": "p.Lys440Arg",
          "transcript": "ENST00000856173.1",
          "protein_id": "ENSP00000526232.1",
          "transcript_support_level": null,
          "aa_start": 440,
          "aa_end": null,
          "aa_length": 648,
          "cds_start": 1319,
          "cds_end": null,
          "cds_length": 1947,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000856173.1"
        },
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}