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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: 2-74366610-G-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=74366610&ref=G&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "2",
      "pos": 74366610,
      "ref": "G",
      "alt": "C",
      "effect": "missense_variant",
      "transcript": "NM_004082.5",
      "consequences": [
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DCTN1",
          "gene_hgnc_id": 2711,
          "hgvs_c": "c.2477C>G",
          "hgvs_p": "p.Thr826Arg",
          "transcript": "NM_004082.5",
          "protein_id": "NP_004073.2",
          "transcript_support_level": null,
          "aa_start": 826,
          "aa_end": null,
          "aa_length": 1278,
          "cds_start": 2477,
          "cds_end": null,
          "cds_length": 3837,
          "cdna_start": 2751,
          "cdna_end": null,
          "cdna_length": 4455,
          "mane_select": "ENST00000628224.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_004082.5"
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DCTN1",
          "gene_hgnc_id": 2711,
          "hgvs_c": "c.2477C>G",
          "hgvs_p": "p.Thr826Arg",
          "transcript": "ENST00000628224.3",
          "protein_id": "ENSP00000487279.2",
          "transcript_support_level": 5,
          "aa_start": 826,
          "aa_end": null,
          "aa_length": 1278,
          "cds_start": 2477,
          "cds_end": null,
          "cds_length": 3837,
          "cdna_start": 2751,
          "cdna_end": null,
          "cdna_length": 4455,
          "mane_select": "NM_004082.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000628224.3"
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DCTN1",
          "gene_hgnc_id": 2711,
          "hgvs_c": "c.2477C>G",
          "hgvs_p": "p.Thr826Arg",
          "transcript": "ENST00000361874.8",
          "protein_id": "ENSP00000354791.4",
          "transcript_support_level": 1,
          "aa_start": 826,
          "aa_end": null,
          "aa_length": 1273,
          "cds_start": 2477,
          "cds_end": null,
          "cds_length": 3822,
          "cdna_start": 2795,
          "cdna_end": null,
          "cdna_length": 4485,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000361874.8"
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DCTN1",
          "gene_hgnc_id": 2711,
          "hgvs_c": "c.2417C>G",
          "hgvs_p": "p.Thr806Arg",
          "transcript": "ENST00000409567.7",
          "protein_id": "ENSP00000386843.3",
          "transcript_support_level": 1,
          "aa_start": 806,
          "aa_end": null,
          "aa_length": 1253,
          "cds_start": 2417,
          "cds_end": null,
          "cds_length": 3762,
          "cdna_start": 2679,
          "cdna_end": null,
          "cdna_length": 4024,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000409567.7"
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DCTN1",
          "gene_hgnc_id": 2711,
          "hgvs_c": "c.2366C>G",
          "hgvs_p": "p.Thr789Arg",
          "transcript": "ENST00000409240.5",
          "protein_id": "ENSP00000386406.1",
          "transcript_support_level": 1,
          "aa_start": 789,
          "aa_end": null,
          "aa_length": 1236,
          "cds_start": 2366,
          "cds_end": null,
          "cds_length": 3711,
          "cdna_start": 2678,
          "cdna_end": null,
          "cdna_length": 4365,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000409240.5"
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DCTN1",
          "gene_hgnc_id": 2711,
          "hgvs_c": "c.2075C>G",
          "hgvs_p": "p.Thr692Arg",
          "transcript": "ENST00000409438.5",
          "protein_id": "ENSP00000387270.1",
          "transcript_support_level": 1,
          "aa_start": 692,
          "aa_end": null,
          "aa_length": 1139,
          "cds_start": 2075,
          "cds_end": null,
          "cds_length": 3420,
          "cdna_start": 2458,
          "cdna_end": null,
          "cdna_length": 4145,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000409438.5"
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DCTN1",
          "gene_hgnc_id": 2711,
          "hgvs_c": "c.2456C>G",
          "hgvs_p": "p.Thr819Arg",
          "transcript": "NM_001190837.2",
          "protein_id": "NP_001177766.1",
          "transcript_support_level": null,
          "aa_start": 819,
          "aa_end": null,
          "aa_length": 1271,
          "cds_start": 2456,
          "cds_end": null,
          "cds_length": 3816,
          "cdna_start": 2730,
          "cdna_end": null,
          "cdna_length": 4434,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001190837.2"
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DCTN1",
          "gene_hgnc_id": 2711,
          "hgvs_c": "c.2456C>G",
          "hgvs_p": "p.Thr819Arg",
          "transcript": "ENST00000394003.7",
          "protein_id": "ENSP00000377571.3",
          "transcript_support_level": 5,
          "aa_start": 819,
          "aa_end": null,
          "aa_length": 1271,
          "cds_start": 2456,
          "cds_end": null,
          "cds_length": 3816,
          "cdna_start": 2774,
          "cdna_end": null,
          "cdna_length": 4479,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000394003.7"
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DCTN1",
          "gene_hgnc_id": 2711,
          "hgvs_c": "c.2456C>G",
          "hgvs_p": "p.Thr819Arg",
          "transcript": "ENST00000898642.1",
          "protein_id": "ENSP00000568701.1",
          "transcript_support_level": null,
          "aa_start": 819,
          "aa_end": null,
          "aa_length": 1266,
          "cds_start": 2456,
          "cds_end": null,
          "cds_length": 3801,
          "cdna_start": 2752,
          "cdna_end": null,
          "cdna_length": 4441,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000898642.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DCTN1",
          "gene_hgnc_id": 2711,
          "hgvs_c": "c.2441C>G",
          "hgvs_p": "p.Thr814Arg",
          "transcript": "ENST00000971125.1",
          "protein_id": "ENSP00000641184.1",
          "transcript_support_level": null,
          "aa_start": 814,
          "aa_end": null,
          "aa_length": 1266,
          "cds_start": 2441,
          "cds_end": null,
          "cds_length": 3801,
          "cdna_start": 2755,
          "cdna_end": null,
          "cdna_length": 4453,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000971125.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DCTN1",
          "gene_hgnc_id": 2711,
          "hgvs_c": "c.2438C>G",
          "hgvs_p": "p.Thr813Arg",
          "transcript": "ENST00000971127.1",
          "protein_id": "ENSP00000641186.1",
          "transcript_support_level": null,
          "aa_start": 813,
          "aa_end": null,
          "aa_length": 1265,
          "cds_start": 2438,
          "cds_end": null,
          "cds_length": 3798,
          "cdna_start": 2713,
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          "cdna_length": 4411,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000971127.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DCTN1",
          "gene_hgnc_id": 2711,
          "hgvs_c": "c.2438C>G",
          "hgvs_p": "p.Thr813Arg",
          "transcript": "ENST00000971130.1",
          "protein_id": "ENSP00000641189.1",
          "transcript_support_level": null,
          "aa_start": 813,
          "aa_end": null,
          "aa_length": 1265,
          "cds_start": 2438,
          "cds_end": null,
          "cds_length": 3798,
          "cdna_start": 2678,
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          "cdna_length": 4382,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000971130.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DCTN1",
          "gene_hgnc_id": 2711,
          "hgvs_c": "c.2453C>G",
          "hgvs_p": "p.Thr818Arg",
          "transcript": "ENST00000971131.1",
          "protein_id": "ENSP00000641190.1",
          "transcript_support_level": null,
          "aa_start": 818,
          "aa_end": null,
          "aa_length": 1265,
          "cds_start": 2453,
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          "cds_length": 3798,
          "cdna_start": 2693,
          "cdna_end": null,
          "cdna_length": 4381,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000971131.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DCTN1",
          "gene_hgnc_id": 2711,
          "hgvs_c": "c.2426C>G",
          "hgvs_p": "p.Thr809Arg",
          "transcript": "NM_001378991.1",
          "protein_id": "NP_001365920.1",
          "transcript_support_level": null,
          "aa_start": 809,
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          "cds_start": 2426,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "NM_001378991.1"
        },
        {
          "aa_ref": "T",
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          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 32,
          "intron_rank": null,
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          "gene_symbol": "DCTN1",
          "gene_hgnc_id": 2711,
          "hgvs_c": "c.2426C>G",
          "hgvs_p": "p.Thr809Arg",
          "transcript": "ENST00000680606.1",
          "protein_id": "ENSP00000505612.1",
          "transcript_support_level": null,
          "aa_start": 809,
          "aa_end": null,
          "aa_length": 1261,
          "cds_start": 2426,
          "cds_end": null,
          "cds_length": 3786,
          "cdna_start": 2517,
          "cdna_end": null,
          "cdna_length": 4221,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000680606.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DCTN1",
          "gene_hgnc_id": 2711,
          "hgvs_c": "c.2438C>G",
          "hgvs_p": "p.Thr813Arg",
          "transcript": "ENST00000898641.1",
          "protein_id": "ENSP00000568700.1",
          "transcript_support_level": null,
          "aa_start": 813,
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          "aa_length": 1260,
          "cds_start": 2438,
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          "cds_length": 3783,
          "cdna_start": 2734,
          "cdna_end": null,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000898641.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 20,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DCTN1",
          "gene_hgnc_id": 2711,
          "hgvs_c": "c.2435C>G",
          "hgvs_p": "p.Thr812Arg",
          "transcript": "ENST00000971128.1",
          "protein_id": "ENSP00000641187.1",
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          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "T",
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          ],
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          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DCTN1",
          "gene_hgnc_id": 2711,
          "hgvs_c": "c.2432C>G",
          "hgvs_p": "p.Thr811Arg",
          "transcript": "ENST00000971133.1",
          "protein_id": "ENSP00000641192.1",
          "transcript_support_level": null,
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          "aa_end": null,
          "aa_length": 1258,
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          "cdna_start": 2671,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000971133.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 22,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DCTN1",
          "gene_hgnc_id": 2711,
          "hgvs_c": "c.2426C>G",
          "hgvs_p": "p.Thr809Arg",
          "transcript": "ENST00000409868.5",
          "protein_id": "ENSP00000387327.1",
          "transcript_support_level": 5,
          "aa_start": 809,
          "aa_end": null,
          "aa_length": 1256,
          "cds_start": 2426,
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          "cds_length": 3771,
          "cdna_start": 2516,
          "cdna_end": null,
          "cdna_length": 4202,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000409868.5"
        },
        {
          "aa_ref": "T",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 21,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DCTN1",
          "gene_hgnc_id": 2711,
          "hgvs_c": "c.2408C>G",
          "hgvs_p": "p.Thr803Arg",
          "transcript": "NM_001378992.1",
          "protein_id": "NP_001365921.1",
          "transcript_support_level": null,
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}
For research and educational, non-commercial use only. Not for clinical or diagnostic use. GeneBe does not provide medical advice. Data use for AI modeling is prohibited: if used, the cost is $0.001 per byte of downloaded uncompressed data.