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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: 7-150796565-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=150796565&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "7",
      "pos": 150796565,
      "ref": "G",
      "alt": "A",
      "effect": "missense_variant",
      "transcript": "NM_001362691.2",
      "consequences": [
        {
          "aa_ref": "T",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TMEM176B",
          "gene_hgnc_id": 29596,
          "hgvs_c": "c.5C>T",
          "hgvs_p": "p.Thr2Met",
          "transcript": "NM_001101312.2",
          "protein_id": "NP_001094782.1",
          "transcript_support_level": null,
          "aa_start": 2,
          "aa_end": null,
          "aa_length": 270,
          "cds_start": 5,
          "cds_end": null,
          "cds_length": 813,
          "cdna_start": 77,
          "cdna_end": null,
          "cdna_length": 1115,
          "mane_select": "ENST00000326442.10",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001101312.2"
        },
        {
          "aa_ref": "T",
          "aa_alt": "M",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TMEM176B",
          "gene_hgnc_id": 29596,
          "hgvs_c": "c.5C>T",
          "hgvs_p": "p.Thr2Met",
          "transcript": "ENST00000326442.10",
          "protein_id": "ENSP00000318409.5",
          "transcript_support_level": 1,
          "aa_start": 2,
          "aa_end": null,
          "aa_length": 270,
          "cds_start": 5,
          "cds_end": null,
          "cds_length": 813,
          "cdna_start": 77,
          "cdna_end": null,
          "cdna_length": 1115,
          "mane_select": "NM_001101312.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000326442.10"
        },
        {
          "aa_ref": "T",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TMEM176B",
          "gene_hgnc_id": 29596,
          "hgvs_c": "c.5C>T",
          "hgvs_p": "p.Thr2Met",
          "transcript": "ENST00000447204.6",
          "protein_id": "ENSP00000410269.2",
          "transcript_support_level": 1,
          "aa_start": 2,
          "aa_end": null,
          "aa_length": 270,
          "cds_start": 5,
          "cds_end": null,
          "cds_length": 813,
          "cdna_start": 378,
          "cdna_end": null,
          "cdna_length": 1430,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000447204.6"
        },
        {
          "aa_ref": "T",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TMEM176B",
          "gene_hgnc_id": 29596,
          "hgvs_c": "c.5C>T",
          "hgvs_p": "p.Thr2Met",
          "transcript": "ENST00000854817.1",
          "protein_id": "ENSP00000524876.1",
          "transcript_support_level": null,
          "aa_start": 2,
          "aa_end": null,
          "aa_length": 318,
          "cds_start": 5,
          "cds_end": null,
          "cds_length": 957,
          "cdna_start": 371,
          "cdna_end": null,
          "cdna_length": 1546,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000854817.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TMEM176B",
          "gene_hgnc_id": 29596,
          "hgvs_c": "c.5C>T",
          "hgvs_p": "p.Thr2Met",
          "transcript": "ENST00000854831.1",
          "protein_id": "ENSP00000524890.1",
          "transcript_support_level": null,
          "aa_start": 2,
          "aa_end": null,
          "aa_length": 318,
          "cds_start": 5,
          "cds_end": null,
          "cds_length": 957,
          "cdna_start": 392,
          "cdna_end": null,
          "cdna_length": 1585,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000854831.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TMEM176B",
          "gene_hgnc_id": 29596,
          "hgvs_c": "c.5C>T",
          "hgvs_p": "p.Thr2Met",
          "transcript": "ENST00000854844.1",
          "protein_id": "ENSP00000524903.1",
          "transcript_support_level": null,
          "aa_start": 2,
          "aa_end": null,
          "aa_length": 318,
          "cds_start": 5,
          "cds_end": null,
          "cds_length": 957,
          "cdna_start": 71,
          "cdna_end": null,
          "cdna_length": 1262,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000854844.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TMEM176B",
          "gene_hgnc_id": 29596,
          "hgvs_c": "c.5C>T",
          "hgvs_p": "p.Thr2Met",
          "transcript": "ENST00000854854.1",
          "protein_id": "ENSP00000524913.1",
          "transcript_support_level": null,
          "aa_start": 2,
          "aa_end": null,
          "aa_length": 301,
          "cds_start": 5,
          "cds_end": null,
          "cds_length": 906,
          "cdna_start": 62,
          "cdna_end": null,
          "cdna_length": 1201,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000854854.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TMEM176B",
          "gene_hgnc_id": 29596,
          "hgvs_c": "c.53C>T",
          "hgvs_p": "p.Thr18Met",
          "transcript": "NM_001362691.2",
          "protein_id": "NP_001349620.1",
          "transcript_support_level": null,
          "aa_start": 18,
          "aa_end": null,
          "aa_length": 286,
          "cds_start": 53,
          "cds_end": null,
          "cds_length": 861,
          "cdna_start": 143,
          "cdna_end": null,
          "cdna_length": 1181,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001362691.2"
        },
        {
          "aa_ref": "T",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TMEM176B",
          "gene_hgnc_id": 29596,
          "hgvs_c": "c.53C>T",
          "hgvs_p": "p.Thr18Met",
          "transcript": "NM_001362692.2",
          "protein_id": "NP_001349621.1",
          "transcript_support_level": null,
          "aa_start": 18,
          "aa_end": null,
          "aa_length": 286,
          "cds_start": 53,
          "cds_end": null,
          "cds_length": 861,
          "cdna_start": 135,
          "cdna_end": null,
          "cdna_length": 1173,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001362692.2"
        },
        {
          "aa_ref": "T",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TMEM176B",
          "gene_hgnc_id": 29596,
          "hgvs_c": "c.5C>T",
          "hgvs_p": "p.Thr2Met",
          "transcript": "ENST00000854850.1",
          "protein_id": "ENSP00000524909.1",
          "transcript_support_level": null,
          "aa_start": 2,
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          "cds_start": 5,
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          "cdna_start": 66,
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          "cdna_length": 1137,
          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
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          "gene_symbol": "TMEM176B",
          "gene_hgnc_id": 29596,
          "hgvs_c": "c.5C>T",
          "hgvs_p": "p.Thr2Met",
          "transcript": "NM_001101311.2",
          "protein_id": "NP_001094781.1",
          "transcript_support_level": null,
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          "aa_length": 270,
          "cds_start": 5,
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          "cdna_start": 85,
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          "cdna_length": 1123,
          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "T",
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          "strand": false,
          "consequences": [
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          ],
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          "intron_rank": null,
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          "gene_symbol": "TMEM176B",
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          "hgvs_c": "c.5C>T",
          "hgvs_p": "p.Thr2Met",
          "transcript": "NM_014020.4",
          "protein_id": "NP_054739.3",
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          "cds_start": 5,
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          "cdna_start": 378,
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          "biotype": "protein_coding",
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        {
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          "strand": false,
          "consequences": [
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          ],
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          "gene_symbol": "TMEM176B",
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          "hgvs_c": "c.5C>T",
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          "transcript": "ENST00000429904.6",
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        },
        {
          "aa_ref": "T",
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          "protein_coding": true,
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          "consequences": [
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          ],
          "exon_rank": 3,
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          "exon_count": 8,
          "intron_rank": null,
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          "gene_symbol": "TMEM176B",
          "gene_hgnc_id": 29596,
          "hgvs_c": "c.5C>T",
          "hgvs_p": "p.Thr2Met",
          "transcript": "ENST00000492607.5",
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        {
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          "gene_symbol": "TMEM176B",
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "T",
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          "intron_rank": null,
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          "gene_symbol": "TMEM176B",
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          "hgvs_c": "c.5C>T",
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          "transcript": "ENST00000854801.1",
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        {
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          "gene_symbol": "TMEM176B",
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          "transcript": "ENST00000854803.1",
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        {
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        {
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          "transcript": "ENST00000854805.1",
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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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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TMEM176B",
          "gene_hgnc_id": 29596,
          "hgvs_c": "c.5C>T",
          "hgvs_p": "p.Thr2Met",
          "transcript": "ENST00000854807.1",
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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.