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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: 1-169590176-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=169590176&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "1",
      "pos": 169590176,
      "ref": "G",
      "alt": "A",
      "effect": "missense_variant",
      "transcript": "NM_003005.4",
      "consequences": [
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SELP",
          "gene_hgnc_id": 10721,
          "hgvs_c": "c.2465C>T",
          "hgvs_p": "p.Thr822Ile",
          "transcript": "NM_003005.4",
          "protein_id": "NP_002996.2",
          "transcript_support_level": null,
          "aa_start": 822,
          "aa_end": null,
          "aa_length": 830,
          "cds_start": 2465,
          "cds_end": null,
          "cds_length": 2493,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000263686.11",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_003005.4"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SELP",
          "gene_hgnc_id": 10721,
          "hgvs_c": "c.2465C>T",
          "hgvs_p": "p.Thr822Ile",
          "transcript": "ENST00000263686.11",
          "protein_id": "ENSP00000263686.5",
          "transcript_support_level": 1,
          "aa_start": 822,
          "aa_end": null,
          "aa_length": 830,
          "cds_start": 2465,
          "cds_end": null,
          "cds_length": 2493,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_003005.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000263686.11"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SELP",
          "gene_hgnc_id": 10721,
          "hgvs_c": "c.2342C>T",
          "hgvs_p": "p.Thr781Ile",
          "transcript": "ENST00000426706.6",
          "protein_id": "ENSP00000391694.2",
          "transcript_support_level": 1,
          "aa_start": 781,
          "aa_end": null,
          "aa_length": 789,
          "cds_start": 2342,
          "cds_end": null,
          "cds_length": 2370,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000426706.6"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SELP",
          "gene_hgnc_id": 10721,
          "hgvs_c": "c.2465C>T",
          "hgvs_p": "p.Thr822Ile",
          "transcript": "ENST00000909597.1",
          "protein_id": "ENSP00000579656.1",
          "transcript_support_level": null,
          "aa_start": 822,
          "aa_end": null,
          "aa_length": 830,
          "cds_start": 2465,
          "cds_end": null,
          "cds_length": 2493,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000909597.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SELP",
          "gene_hgnc_id": 10721,
          "hgvs_c": "c.2465C>T",
          "hgvs_p": "p.Thr822Ile",
          "transcript": "ENST00000909601.1",
          "protein_id": "ENSP00000579660.1",
          "transcript_support_level": null,
          "aa_start": 822,
          "aa_end": null,
          "aa_length": 830,
          "cds_start": 2465,
          "cds_end": null,
          "cds_length": 2493,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000909601.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SELP",
          "gene_hgnc_id": 10721,
          "hgvs_c": "c.2465C>T",
          "hgvs_p": "p.Thr822Ile",
          "transcript": "ENST00000909602.1",
          "protein_id": "ENSP00000579661.1",
          "transcript_support_level": null,
          "aa_start": 822,
          "aa_end": null,
          "aa_length": 830,
          "cds_start": 2465,
          "cds_end": null,
          "cds_length": 2493,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000909602.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SELP",
          "gene_hgnc_id": 10721,
          "hgvs_c": "c.2465C>T",
          "hgvs_p": "p.Thr822Ile",
          "transcript": "ENST00000909607.1",
          "protein_id": "ENSP00000579666.1",
          "transcript_support_level": null,
          "aa_start": 822,
          "aa_end": null,
          "aa_length": 830,
          "cds_start": 2465,
          "cds_end": null,
          "cds_length": 2493,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000909607.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SELP",
          "gene_hgnc_id": 10721,
          "hgvs_c": "c.2465C>T",
          "hgvs_p": "p.Thr822Ile",
          "transcript": "ENST00000909608.1",
          "protein_id": "ENSP00000579667.1",
          "transcript_support_level": null,
          "aa_start": 822,
          "aa_end": null,
          "aa_length": 830,
          "cds_start": 2465,
          "cds_end": null,
          "cds_length": 2493,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000909608.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SELP",
          "gene_hgnc_id": 10721,
          "hgvs_c": "c.2465C>T",
          "hgvs_p": "p.Thr822Ile",
          "transcript": "ENST00000958021.1",
          "protein_id": "ENSP00000628080.1",
          "transcript_support_level": null,
          "aa_start": 822,
          "aa_end": null,
          "aa_length": 830,
          "cds_start": 2465,
          "cds_end": null,
          "cds_length": 2493,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000958021.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SELP",
          "gene_hgnc_id": 10721,
          "hgvs_c": "c.2465C>T",
          "hgvs_p": "p.Thr822Ile",
          "transcript": "ENST00000958023.1",
          "protein_id": "ENSP00000628082.1",
          "transcript_support_level": null,
          "aa_start": 822,
          "aa_end": null,
          "aa_length": 830,
          "cds_start": 2465,
          "cds_end": null,
          "cds_length": 2493,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000958023.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SELP",
          "gene_hgnc_id": 10721,
          "hgvs_c": "c.2462C>T",
          "hgvs_p": "p.Thr821Ile",
          "transcript": "ENST00000909604.1",
          "protein_id": "ENSP00000579663.1",
          "transcript_support_level": null,
          "aa_start": 821,
          "aa_end": null,
          "aa_length": 829,
          "cds_start": 2462,
          "cds_end": null,
          "cds_length": 2490,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000909604.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SELP",
          "gene_hgnc_id": 10721,
          "hgvs_c": "c.2462C>T",
          "hgvs_p": "p.Thr821Ile",
          "transcript": "ENST00000909609.1",
          "protein_id": "ENSP00000579668.1",
          "transcript_support_level": null,
          "aa_start": 821,
          "aa_end": null,
          "aa_length": 829,
          "cds_start": 2462,
          "cds_end": null,
          "cds_length": 2490,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000909609.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SELP",
          "gene_hgnc_id": 10721,
          "hgvs_c": "c.2462C>T",
          "hgvs_p": "p.Thr821Ile",
          "transcript": "ENST00000958025.1",
          "protein_id": "ENSP00000628084.1",
          "transcript_support_level": null,
          "aa_start": 821,
          "aa_end": null,
          "aa_length": 829,
          "cds_start": 2462,
          "cds_end": null,
          "cds_length": 2490,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000958025.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SELP",
          "gene_hgnc_id": 10721,
          "hgvs_c": "c.2345C>T",
          "hgvs_p": "p.Thr782Ile",
          "transcript": "ENST00000909598.1",
          "protein_id": "ENSP00000579657.1",
          "transcript_support_level": null,
          "aa_start": 782,
          "aa_end": null,
          "aa_length": 790,
          "cds_start": 2345,
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          "cdna_start": 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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          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SELP",
          "gene_hgnc_id": 10721,
          "hgvs_c": "c.2345C>T",
          "hgvs_p": "p.Thr782Ile",
          "transcript": "ENST00000909606.1",
          "protein_id": "ENSP00000579665.1",
          "transcript_support_level": null,
          "aa_start": 782,
          "aa_end": null,
          "aa_length": 790,
          "cds_start": 2345,
          "cds_end": null,
          "cds_length": 2373,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000909606.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SELP",
          "gene_hgnc_id": 10721,
          "hgvs_c": "c.2345C>T",
          "hgvs_p": "p.Thr782Ile",
          "transcript": "ENST00000909610.1",
          "protein_id": "ENSP00000579669.1",
          "transcript_support_level": null,
          "aa_start": 782,
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          "cds_start": 2345,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SELP",
          "gene_hgnc_id": 10721,
          "hgvs_c": "c.2345C>T",
          "hgvs_p": "p.Thr782Ile",
          "transcript": "ENST00000958022.1",
          "protein_id": "ENSP00000628081.1",
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          "biotype": "protein_coding",
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        {
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          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
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          "exon_count": 16,
          "intron_rank": null,
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          "gene_symbol": "SELP",
          "gene_hgnc_id": 10721,
          "hgvs_c": "c.2279C>T",
          "hgvs_p": "p.Thr760Ile",
          "transcript": "ENST00000367786.6",
          "protein_id": "ENSP00000356760.1",
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          "aa_start": 760,
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          "aa_length": 768,
          "cds_start": 2279,
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          "cds_length": 2307,
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        },
        {
          "aa_ref": "T",
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          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
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          "exon_count": 15,
          "intron_rank": null,
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          "gene_symbol": "SELP",
          "gene_hgnc_id": 10721,
          "hgvs_c": "c.2279C>T",
          "hgvs_p": "p.Thr760Ile",
          "transcript": "ENST00000367788.6",
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          "transcript_support_level": 5,
          "aa_start": 760,
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          "aa_length": 768,
          "cds_start": 2279,
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          "cds_length": 2307,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000367788.6"
        },
        {
          "aa_ref": "T",
          "aa_alt": "I",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SELP",
          "gene_hgnc_id": 10721,
          "hgvs_c": "c.2279C>T",
          "hgvs_p": "p.Thr760Ile",
          "transcript": "ENST00000909599.1",
          "protein_id": "ENSP00000579658.1",
          "transcript_support_level": null,
          "aa_start": 760,
          "aa_end": null,
          "aa_length": 768,
          "cds_start": 2279,
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