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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: 2-205763907-A-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=205763907&ref=A&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "2",
      "pos": 205763907,
      "ref": "A",
      "alt": "T",
      "effect": "missense_variant",
      "transcript": "NM_201266.2",
      "consequences": [
        {
          "aa_ref": "I",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRP2",
          "gene_hgnc_id": 8005,
          "hgvs_c": "c.2278A>T",
          "hgvs_p": "p.Ile760Phe",
          "transcript": "NM_003872.3",
          "protein_id": "NP_003863.2",
          "transcript_support_level": null,
          "aa_start": 760,
          "aa_end": null,
          "aa_length": 926,
          "cds_start": 2278,
          "cds_end": null,
          "cds_length": 2781,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000357785.10",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_003872.3"
        },
        {
          "aa_ref": "I",
          "aa_alt": "F",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRP2",
          "gene_hgnc_id": 8005,
          "hgvs_c": "c.2278A>T",
          "hgvs_p": "p.Ile760Phe",
          "transcript": "ENST00000357785.10",
          "protein_id": "ENSP00000350432.5",
          "transcript_support_level": 1,
          "aa_start": 760,
          "aa_end": null,
          "aa_length": 926,
          "cds_start": 2278,
          "cds_end": null,
          "cds_length": 2781,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_003872.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000357785.10"
        },
        {
          "aa_ref": "I",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRP2",
          "gene_hgnc_id": 8005,
          "hgvs_c": "c.2278A>T",
          "hgvs_p": "p.Ile760Phe",
          "transcript": "ENST00000360409.7",
          "protein_id": "ENSP00000353582.3",
          "transcript_support_level": 1,
          "aa_start": 760,
          "aa_end": null,
          "aa_length": 931,
          "cds_start": 2278,
          "cds_end": null,
          "cds_length": 2796,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000360409.7"
        },
        {
          "aa_ref": "I",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRP2",
          "gene_hgnc_id": 8005,
          "hgvs_c": "c.2278A>T",
          "hgvs_p": "p.Ile760Phe",
          "transcript": "ENST00000412873.2",
          "protein_id": "ENSP00000407626.2",
          "transcript_support_level": 1,
          "aa_start": 760,
          "aa_end": null,
          "aa_length": 909,
          "cds_start": 2278,
          "cds_end": null,
          "cds_length": 2730,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000412873.2"
        },
        {
          "aa_ref": "I",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRP2",
          "gene_hgnc_id": 8005,
          "hgvs_c": "c.2278A>T",
          "hgvs_p": "p.Ile760Phe",
          "transcript": "ENST00000272849.7",
          "protein_id": "ENSP00000272849.3",
          "transcript_support_level": 1,
          "aa_start": 760,
          "aa_end": null,
          "aa_length": 906,
          "cds_start": 2278,
          "cds_end": null,
          "cds_length": 2721,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000272849.7"
        },
        {
          "aa_ref": "I",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRP2",
          "gene_hgnc_id": 8005,
          "hgvs_c": "c.2278A>T",
          "hgvs_p": "p.Ile760Phe",
          "transcript": "ENST00000357118.8",
          "protein_id": "ENSP00000349632.4",
          "transcript_support_level": 1,
          "aa_start": 760,
          "aa_end": null,
          "aa_length": 901,
          "cds_start": 2278,
          "cds_end": null,
          "cds_length": 2706,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000357118.8"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRP2",
          "gene_hgnc_id": 8005,
          "hgvs_c": "n.173A>T",
          "hgvs_p": null,
          "transcript": "ENST00000485684.5",
          "protein_id": null,
          "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": "pseudogene",
          "feature": "ENST00000485684.5"
        },
        {
          "aa_ref": "I",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRP2",
          "gene_hgnc_id": 8005,
          "hgvs_c": "c.2278A>T",
          "hgvs_p": "p.Ile760Phe",
          "transcript": "NM_201266.2",
          "protein_id": "NP_957718.1",
          "transcript_support_level": null,
          "aa_start": 760,
          "aa_end": null,
          "aa_length": 931,
          "cds_start": 2278,
          "cds_end": null,
          "cds_length": 2796,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_201266.2"
        },
        {
          "aa_ref": "I",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRP2",
          "gene_hgnc_id": 8005,
          "hgvs_c": "c.2278A>T",
          "hgvs_p": "p.Ile760Phe",
          "transcript": "NM_201279.2",
          "protein_id": "NP_958436.1",
          "transcript_support_level": null,
          "aa_start": 760,
          "aa_end": null,
          "aa_length": 909,
          "cds_start": 2278,
          "cds_end": null,
          "cds_length": 2730,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_201279.2"
        },
        {
          "aa_ref": "I",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRP2",
          "gene_hgnc_id": 8005,
          "hgvs_c": "c.2278A>T",
          "hgvs_p": "p.Ile760Phe",
          "transcript": "NM_018534.4",
          "protein_id": "NP_061004.3",
          "transcript_support_level": null,
          "aa_start": 760,
          "aa_end": null,
          "aa_length": 906,
          "cds_start": 2278,
          "cds_end": null,
          "cds_length": 2721,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_018534.4"
        },
        {
          "aa_ref": "I",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRP2",
          "gene_hgnc_id": 8005,
          "hgvs_c": "c.2278A>T",
          "hgvs_p": "p.Ile760Phe",
          "transcript": "NM_201267.2",
          "protein_id": "NP_957719.1",
          "transcript_support_level": null,
          "aa_start": 760,
          "aa_end": null,
          "aa_length": 901,
          "cds_start": 2278,
          "cds_end": null,
          "cds_length": 2706,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_201267.2"
        },
        {
          "aa_ref": "I",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRP2",
          "gene_hgnc_id": 8005,
          "hgvs_c": "c.2278A>T",
          "hgvs_p": "p.Ile760Phe",
          "transcript": "XM_047446170.1",
          "protein_id": "XP_047302126.1",
          "transcript_support_level": null,
          "aa_start": 760,
          "aa_end": null,
          "aa_length": 931,
          "cds_start": 2278,
          "cds_end": null,
          "cds_length": 2796,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047446170.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRP2",
          "gene_hgnc_id": 8005,
          "hgvs_c": "c.2278A>T",
          "hgvs_p": "p.Ile760Phe",
          "transcript": "XM_047446171.1",
          "protein_id": "XP_047302127.1",
          "transcript_support_level": null,
          "aa_start": 760,
          "aa_end": null,
          "aa_length": 931,
          "cds_start": 2278,
          "cds_end": null,
          "cds_length": 2796,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047446171.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRP2",
          "gene_hgnc_id": 8005,
          "hgvs_c": "c.2278A>T",
          "hgvs_p": "p.Ile760Phe",
          "transcript": "XM_047446172.1",
          "protein_id": "XP_047302128.1",
          "transcript_support_level": null,
          "aa_start": 760,
          "aa_end": null,
          "aa_length": 926,
          "cds_start": 2278,
          "cds_end": null,
          "cds_length": 2781,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047446172.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRP2",
          "gene_hgnc_id": 8005,
          "hgvs_c": "c.2278A>T",
          "hgvs_p": "p.Ile760Phe",
          "transcript": "XM_047446173.1",
          "protein_id": "XP_047302129.1",
          "transcript_support_level": null,
          "aa_start": 760,
          "aa_end": null,
          "aa_length": 926,
          "cds_start": 2278,
          "cds_end": null,
          "cds_length": 2781,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047446173.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRP2",
          "gene_hgnc_id": 8005,
          "hgvs_c": "c.2278A>T",
          "hgvs_p": "p.Ile760Phe",
          "transcript": "XM_047446174.1",
          "protein_id": "XP_047302130.1",
          "transcript_support_level": null,
          "aa_start": 760,
          "aa_end": null,
          "aa_length": 906,
          "cds_start": 2278,
          "cds_end": null,
          "cds_length": 2721,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047446174.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRP2",
          "gene_hgnc_id": 8005,
          "hgvs_c": "c.2278A>T",
          "hgvs_p": "p.Ile760Phe",
          "transcript": "XM_047446175.1",
          "protein_id": "XP_047302131.1",
          "transcript_support_level": null,
          "aa_start": 760,
          "aa_end": null,
          "aa_length": 901,
          "cds_start": 2278,
          "cds_end": null,
          "cds_length": 2706,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047446175.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRP2",
          "gene_hgnc_id": 8005,
          "hgvs_c": "c.2278A>T",
          "hgvs_p": "p.Ile760Phe",
          "transcript": "XM_047446176.1",
          "protein_id": "XP_047302132.1",
          "transcript_support_level": null,
          "aa_start": 760,
          "aa_end": null,
          "aa_length": 901,
          "cds_start": 2278,
          "cds_end": null,
          "cds_length": 2706,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047446176.1"
        },
        {
          "aa_ref": "I",
          "aa_alt": "F",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRP2",
          "gene_hgnc_id": 8005,
          "hgvs_c": "c.2278A>T",
          "hgvs_p": "p.Ile760Phe",
          "transcript": "XM_017005188.3",
          "protein_id": "XP_016860677.1",
          "transcript_support_level": null,
          "aa_start": 760,
          "aa_end": null,
          "aa_length": 848,
          "cds_start": 2278,
          "cds_end": null,
          "cds_length": 2547,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_017005188.3"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 1,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NRP2-AS1",
          "gene_hgnc_id": 40415,
          "hgvs_c": "n.100T>A",
          "hgvs_p": null,
          "transcript": "ENST00000423425.3",
          "protein_id": null,
          "transcript_support_level": 4,
          "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,
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            "non_coding_transcript_exon_variant"
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          "inheritance_mode": "",
          "hgvs_c": "n.100T>A",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}