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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: 10-95757007-A-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=95757007&ref=A&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "10",
      "pos": 95757007,
      "ref": "A",
      "alt": "G",
      "effect": "intron_variant",
      "transcript": "NM_001440932.1",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ENTPD1",
          "gene_hgnc_id": 3363,
          "hgvs_c": "c.16+752A>G",
          "hgvs_p": null,
          "transcript": "NM_001776.6",
          "protein_id": "NP_001767.3",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 510,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1533,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000371205.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001776.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ENTPD1",
          "gene_hgnc_id": 3363,
          "hgvs_c": "c.16+752A>G",
          "hgvs_p": null,
          "transcript": "ENST00000371205.5",
          "protein_id": "ENSP00000360248.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 510,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1533,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001776.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000371205.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ENTPD1",
          "gene_hgnc_id": 3363,
          "hgvs_c": "c.37+45014A>G",
          "hgvs_p": null,
          "transcript": "ENST00000453258.6",
          "protein_id": "ENSP00000390955.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 517,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1554,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000453258.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ENTPD1",
          "gene_hgnc_id": 3363,
          "hgvs_c": "n.16+752A>G",
          "hgvs_p": null,
          "transcript": "ENST00000635076.1",
          "protein_id": "ENSP00000489250.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000635076.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ENTPD1",
          "gene_hgnc_id": 3363,
          "hgvs_c": "c.94+231A>G",
          "hgvs_p": null,
          "transcript": "NM_001440932.1",
          "protein_id": "NP_001427861.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 536,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1611,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001440932.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ENTPD1",
          "gene_hgnc_id": 3363,
          "hgvs_c": "c.52+1241A>G",
          "hgvs_p": null,
          "transcript": "NM_001164178.1",
          "protein_id": "NP_001157650.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 522,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1569,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001164178.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ENTPD1",
          "gene_hgnc_id": 3363,
          "hgvs_c": "c.52+1241A>G",
          "hgvs_p": null,
          "transcript": "ENST00000371207.8",
          "protein_id": "ENSP00000360250.3",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 522,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1569,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000371207.8"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ENTPD1",
          "gene_hgnc_id": 3363,
          "hgvs_c": "c.37+45014A>G",
          "hgvs_p": null,
          "transcript": "NM_001098175.2",
          "protein_id": "NP_001091645.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 517,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1554,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001098175.2"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "ENTPD1",
          "gene_hgnc_id": 3363,
          "hgvs_c": "c.37+45014A>G",
          "hgvs_p": null,
          "transcript": "NM_001440933.1",
          "protein_id": "NP_001427862.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 517,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1554,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001440933.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ENTPD1",
          "gene_hgnc_id": 3363,
          "hgvs_c": "c.37+45014A>G",
          "hgvs_p": null,
          "transcript": "NM_001440934.1",
          "protein_id": "NP_001427863.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 517,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1554,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001440934.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ENTPD1",
          "gene_hgnc_id": 3363,
          "hgvs_c": "c.52+1241A>G",
          "hgvs_p": null,
          "transcript": "NM_001440935.1",
          "protein_id": "NP_001427864.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 486,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1461,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001440935.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ENTPD1",
          "gene_hgnc_id": 3363,
          "hgvs_c": "c.52+1241A>G",
          "hgvs_p": null,
          "transcript": "NM_001320916.1",
          "protein_id": "NP_001307845.1",
          "transcript_support_level": null,
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          "cds_start": null,
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          "cds_length": 1449,
          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": null,
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          "canonical": false,
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          "consequences": [
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          ],
          "exon_rank": null,
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          "gene_symbol": "ENTPD1",
          "gene_hgnc_id": 3363,
          "hgvs_c": "c.52+1241A>G",
          "hgvs_p": null,
          "transcript": "NM_001440936.1",
          "protein_id": "NP_001427865.1",
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          "cds_start": null,
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          "cdna_start": null,
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          "biotype": "protein_coding",
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        },
        {
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          "canonical": false,
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          "consequences": [
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          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ENTPD1",
          "gene_hgnc_id": 3363,
          "hgvs_c": "c.16+752A>G",
          "hgvs_p": null,
          "transcript": "ENST00000859526.1",
          "protein_id": "ENSP00000529585.1",
          "transcript_support_level": null,
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          "aa_length": 473,
          "cds_start": null,
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        },
        {
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          "gene_symbol": "ENTPD1",
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        },
        {
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          "intron_rank": 1,
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          "gene_symbol": "ENTPD1",
          "gene_hgnc_id": 3363,
          "hgvs_c": "c.16+752A>G",
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          "transcript": "NM_001164179.2",
          "protein_id": "NP_001157651.1",
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          "biotype": "protein_coding",
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        },
        {
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          "exon_count": 10,
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          "gene_symbol": "ENTPD1",
          "gene_hgnc_id": 3363,
          "hgvs_c": "c.16+752A>G",
          "hgvs_p": null,
          "transcript": "ENST00000859524.1",
          "protein_id": "ENSP00000529583.1",
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          "aa_length": 469,
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        {
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          "gene_symbol": "ENTPD1",
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        {
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          "gene_symbol": "ENTPD1",
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          "transcript": "ENST00000953039.1",
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          "biotype": "protein_coding",
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        },
        {
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            "intron_variant"
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          "exon_count": 9,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "ENTPD1",
          "gene_hgnc_id": 3363,
          "hgvs_c": "c.16+752A>G",
          "hgvs_p": null,
          "transcript": "ENST00000953041.1",
          "protein_id": "ENSP00000623100.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 443,
          "cds_start": null,
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          "cds_length": 1332,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000953041.1"
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
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          ],
          "exon_rank": null,
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          "exon_count": 10,
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      "clinvar_classification": "",
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}