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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: 2-190650716-A-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=190650716&ref=A&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "2",
      "pos": 190650716,
      "ref": "A",
      "alt": "G",
      "effect": "intron_variant",
      "transcript": "NM_005966.4",
      "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": 2,
          "intron_rank_end": null,
          "gene_symbol": "NAB1",
          "gene_hgnc_id": 7626,
          "hgvs_c": "c.-197+734A>G",
          "hgvs_p": null,
          "transcript": "NM_005966.4",
          "protein_id": "NP_005957.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 487,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1464,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000337386.10",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_005966.4"
        },
        {
          "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": 2,
          "intron_rank_end": null,
          "gene_symbol": "NAB1",
          "gene_hgnc_id": 7626,
          "hgvs_c": "c.-197+734A>G",
          "hgvs_p": null,
          "transcript": "ENST00000337386.10",
          "protein_id": "ENSP00000336894.5",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 487,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1464,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_005966.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000337386.10"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "5_prime_UTR_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NAB1",
          "gene_hgnc_id": 7626,
          "hgvs_c": "c.-5457A>G",
          "hgvs_p": null,
          "transcript": "XM_047444442.1",
          "protein_id": "XP_047300398.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 487,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1464,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047444442.1"
        },
        {
          "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": 8,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "NAB1",
          "gene_hgnc_id": 7626,
          "hgvs_c": "c.-20+1356A>G",
          "hgvs_p": null,
          "transcript": "ENST00000903121.1",
          "protein_id": "ENSP00000573180.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 498,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1497,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000903121.1"
        },
        {
          "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": 8,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "NAB1",
          "gene_hgnc_id": 7626,
          "hgvs_c": "c.-20+1356A>G",
          "hgvs_p": null,
          "transcript": "NM_001321312.2",
          "protein_id": "NP_001308241.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 487,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1464,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001321312.2"
        },
        {
          "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": 8,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "NAB1",
          "gene_hgnc_id": 7626,
          "hgvs_c": "c.-20+1745A>G",
          "hgvs_p": null,
          "transcript": "NM_001321313.1",
          "protein_id": "NP_001308242.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 487,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1464,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001321313.1"
        },
        {
          "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": 8,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "NAB1",
          "gene_hgnc_id": 7626,
          "hgvs_c": "c.-20+1356A>G",
          "hgvs_p": null,
          "transcript": "ENST00000409581.5",
          "protein_id": "ENSP00000387089.1",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 487,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1464,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000409581.5"
        },
        {
          "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": 9,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "NAB1",
          "gene_hgnc_id": 7626,
          "hgvs_c": "c.-20+734A>G",
          "hgvs_p": null,
          "transcript": "ENST00000903108.1",
          "protein_id": "ENSP00000573167.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 487,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1464,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000903108.1"
        },
        {
          "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": 2,
          "intron_rank_end": null,
          "gene_symbol": "NAB1",
          "gene_hgnc_id": 7626,
          "hgvs_c": "c.-20+734A>G",
          "hgvs_p": null,
          "transcript": "ENST00000903109.1",
          "protein_id": "ENSP00000573168.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 487,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1464,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000903109.1"
        },
        {
          "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": 8,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "NAB1",
          "gene_hgnc_id": 7626,
          "hgvs_c": "c.-20+1758A>G",
          "hgvs_p": null,
          "transcript": "ENST00000903110.1",
          "protein_id": "ENSP00000573169.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 487,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1464,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000903110.1"
        },
        {
          "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": "NAB1",
          "gene_hgnc_id": 7626,
          "hgvs_c": "c.-197+1745A>G",
          "hgvs_p": null,
          "transcript": "ENST00000903111.1",
          "protein_id": "ENSP00000573170.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 487,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1464,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000903111.1"
        },
        {
          "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": "NAB1",
          "gene_hgnc_id": 7626,
          "hgvs_c": "c.-197+1758A>G",
          "hgvs_p": null,
          "transcript": "ENST00000903112.1",
          "protein_id": "ENSP00000573171.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 487,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1464,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000903112.1"
        },
        {
          "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": "NAB1",
          "gene_hgnc_id": 7626,
          "hgvs_c": "c.-251+734A>G",
          "hgvs_p": null,
          "transcript": "ENST00000903113.1",
          "protein_id": "ENSP00000573172.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 487,
          "cds_start": null,
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          "cds_length": 1464,
          "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": 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": 2,
          "intron_rank_end": null,
          "gene_symbol": "NAB1",
          "gene_hgnc_id": 7626,
          "hgvs_c": "c.-20+734A>G",
          "hgvs_p": null,
          "transcript": "ENST00000903116.1",
          "protein_id": "ENSP00000573175.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 487,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1464,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000903116.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
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            "intron_variant"
          ],
          "exon_rank": null,
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          "intron_rank_end": null,
          "gene_symbol": "NAB1",
          "gene_hgnc_id": 7626,
          "hgvs_c": "c.-20+734A>G",
          "hgvs_p": null,
          "transcript": "ENST00000903118.1",
          "protein_id": "ENSP00000573177.1",
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          "aa_start": null,
          "aa_end": null,
          "aa_length": 487,
          "cds_start": null,
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          "cds_length": 1464,
          "cdna_start": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000903118.1"
        },
        {
          "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": "NAB1",
          "gene_hgnc_id": 7626,
          "hgvs_c": "c.-197+1356A>G",
          "hgvs_p": null,
          "transcript": "ENST00000903119.1",
          "protein_id": "ENSP00000573178.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 487,
          "cds_start": null,
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          "cdna_start": null,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000903119.1"
        },
        {
          "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": "NAB1",
          "gene_hgnc_id": 7626,
          "hgvs_c": "c.-251+734A>G",
          "hgvs_p": null,
          "transcript": "ENST00000903120.1",
          "protein_id": "ENSP00000573179.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 487,
          "cds_start": null,
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          "cds_length": 1464,
          "cdna_start": null,
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000903120.1"
        },
        {
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          "canonical": false,
          "protein_coding": true,
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          "consequences": [
            "intron_variant"
          ],
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          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "NAB1",
          "gene_hgnc_id": 7626,
          "hgvs_c": "c.-251+1745A>G",
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          "transcript": "ENST00000903122.1",
          "protein_id": "ENSP00000573181.1",
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          "cds_start": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000903122.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
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            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "NAB1",
          "gene_hgnc_id": 7626,
          "hgvs_c": "c.-197+734A>G",
          "hgvs_p": null,
          "transcript": "ENST00000903123.1",
          "protein_id": "ENSP00000573182.1",
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          "aa_length": 487,
          "cds_start": null,
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          "cdna_start": null,
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          "cdna_length": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000903123.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "NAB1",
          "gene_hgnc_id": 7626,
          "hgvs_c": "c.-74+734A>G",
          "hgvs_p": null,
          "transcript": "ENST00000903126.1",
          "protein_id": "ENSP00000573185.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 487,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1464,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000903126.1"
        },
        {
          "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": 8,
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}