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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: 9-137449656-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=137449656&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "9",
      "pos": 137449656,
      "ref": "T",
      "alt": "C",
      "effect": "missense_variant",
      "transcript": "NM_001130969.3",
      "consequences": [
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "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": "NSMF",
          "gene_hgnc_id": 29843,
          "hgvs_c": "c.1438A>G",
          "hgvs_p": "p.Thr480Ala",
          "transcript": "NM_001130969.3",
          "protein_id": "NP_001124441.1",
          "transcript_support_level": null,
          "aa_start": 480,
          "aa_end": null,
          "aa_length": 530,
          "cds_start": 1438,
          "cds_end": null,
          "cds_length": 1593,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000371475.9",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001130969.3"
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "canonical": true,
          "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": "NSMF",
          "gene_hgnc_id": 29843,
          "hgvs_c": "c.1438A>G",
          "hgvs_p": "p.Thr480Ala",
          "transcript": "ENST00000371475.9",
          "protein_id": "ENSP00000360530.3",
          "transcript_support_level": 1,
          "aa_start": 480,
          "aa_end": null,
          "aa_length": 530,
          "cds_start": 1438,
          "cds_end": null,
          "cds_length": 1593,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001130969.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000371475.9"
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "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": "NSMF",
          "gene_hgnc_id": 29843,
          "hgvs_c": "c.1432A>G",
          "hgvs_p": "p.Thr478Ala",
          "transcript": "ENST00000265663.12",
          "protein_id": "ENSP00000265663.7",
          "transcript_support_level": 1,
          "aa_start": 478,
          "aa_end": null,
          "aa_length": 528,
          "cds_start": 1432,
          "cds_end": null,
          "cds_length": 1587,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000265663.12"
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NSMF",
          "gene_hgnc_id": 29843,
          "hgvs_c": "c.1432A>G",
          "hgvs_p": "p.Thr478Ala",
          "transcript": "ENST00000371472.6",
          "protein_id": "ENSP00000360527.1",
          "transcript_support_level": 2,
          "aa_start": 478,
          "aa_end": null,
          "aa_length": 528,
          "cds_start": 1432,
          "cds_end": null,
          "cds_length": 1587,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000371472.6"
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NSMF",
          "gene_hgnc_id": 29843,
          "hgvs_c": "c.1363A>G",
          "hgvs_p": "p.Thr455Ala",
          "transcript": "ENST00000371474.7",
          "protein_id": "ENSP00000360529.3",
          "transcript_support_level": 1,
          "aa_start": 455,
          "aa_end": null,
          "aa_length": 505,
          "cds_start": 1363,
          "cds_end": null,
          "cds_length": 1518,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000371474.7"
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "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": "NSMF",
          "gene_hgnc_id": 29843,
          "hgvs_c": "c.1348A>G",
          "hgvs_p": "p.Thr450Ala",
          "transcript": "ENST00000371473.7",
          "protein_id": "ENSP00000360528.3",
          "transcript_support_level": 1,
          "aa_start": 450,
          "aa_end": null,
          "aa_length": 500,
          "cds_start": 1348,
          "cds_end": null,
          "cds_length": 1503,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000371473.7"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NSMF",
          "gene_hgnc_id": 29843,
          "hgvs_c": "n.1564A>G",
          "hgvs_p": null,
          "transcript": "ENST00000371482.5",
          "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": "retained_intron",
          "feature": "ENST00000371482.5"
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "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": "NSMF",
          "gene_hgnc_id": 29843,
          "hgvs_c": "c.1657A>G",
          "hgvs_p": "p.Thr553Ala",
          "transcript": "ENST00000934994.1",
          "protein_id": "ENSP00000605053.1",
          "transcript_support_level": null,
          "aa_start": 553,
          "aa_end": null,
          "aa_length": 603,
          "cds_start": 1657,
          "cds_end": null,
          "cds_length": 1812,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000934994.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "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": "NSMF",
          "gene_hgnc_id": 29843,
          "hgvs_c": "c.1618A>G",
          "hgvs_p": "p.Thr540Ala",
          "transcript": "ENST00000935000.1",
          "protein_id": "ENSP00000605059.1",
          "transcript_support_level": null,
          "aa_start": 540,
          "aa_end": null,
          "aa_length": 590,
          "cds_start": 1618,
          "cds_end": null,
          "cds_length": 1773,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000935000.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "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": "NSMF",
          "gene_hgnc_id": 29843,
          "hgvs_c": "c.1588A>G",
          "hgvs_p": "p.Thr530Ala",
          "transcript": "ENST00000934996.1",
          "protein_id": "ENSP00000605055.1",
          "transcript_support_level": null,
          "aa_start": 530,
          "aa_end": null,
          "aa_length": 580,
          "cds_start": 1588,
          "cds_end": null,
          "cds_length": 1743,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000934996.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "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": "NSMF",
          "gene_hgnc_id": 29843,
          "hgvs_c": "c.1474A>G",
          "hgvs_p": "p.Thr492Ala",
          "transcript": "ENST00000961356.1",
          "protein_id": "ENSP00000631415.1",
          "transcript_support_level": null,
          "aa_start": 492,
          "aa_end": null,
          "aa_length": 542,
          "cds_start": 1474,
          "cds_end": null,
          "cds_length": 1629,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000961356.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "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": "NSMF",
          "gene_hgnc_id": 29843,
          "hgvs_c": "c.1456A>G",
          "hgvs_p": "p.Thr486Ala",
          "transcript": "ENST00000861168.1",
          "protein_id": "ENSP00000531227.1",
          "transcript_support_level": null,
          "aa_start": 486,
          "aa_end": null,
          "aa_length": 536,
          "cds_start": 1456,
          "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": "ENST00000861168.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "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": "NSMF",
          "gene_hgnc_id": 29843,
          "hgvs_c": "c.1432A>G",
          "hgvs_p": "p.Thr478Ala",
          "transcript": "NM_015537.5",
          "protein_id": "NP_056352.3",
          "transcript_support_level": null,
          "aa_start": 478,
          "aa_end": null,
          "aa_length": 528,
          "cds_start": 1432,
          "cds_end": null,
          "cds_length": 1587,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_015537.5"
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "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": "NSMF",
          "gene_hgnc_id": 29843,
          "hgvs_c": "c.1432A>G",
          "hgvs_p": "p.Thr478Ala",
          "transcript": "ENST00000934993.1",
          "protein_id": "ENSP00000605052.1",
          "transcript_support_level": null,
          "aa_start": 478,
          "aa_end": null,
          "aa_length": 528,
          "cds_start": 1432,
          "cds_end": null,
          "cds_length": 1587,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000934993.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "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": "NSMF",
          "gene_hgnc_id": 29843,
          "hgvs_c": "c.1423A>G",
          "hgvs_p": "p.Thr475Ala",
          "transcript": "ENST00000934998.1",
          "protein_id": "ENSP00000605057.1",
          "transcript_support_level": null,
          "aa_start": 475,
          "aa_end": null,
          "aa_length": 525,
          "cds_start": 1423,
          "cds_end": null,
          "cds_length": 1578,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000934998.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "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": "NSMF",
          "gene_hgnc_id": 29843,
          "hgvs_c": "c.1423A>G",
          "hgvs_p": "p.Thr475Ala",
          "transcript": "ENST00000961354.1",
          "protein_id": "ENSP00000631413.1",
          "transcript_support_level": null,
          "aa_start": 475,
          "aa_end": null,
          "aa_length": 525,
          "cds_start": 1423,
          "cds_end": null,
          "cds_length": 1578,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000961354.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "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": "NSMF",
          "gene_hgnc_id": 29843,
          "hgvs_c": "c.1423A>G",
          "hgvs_p": "p.Thr475Ala",
          "transcript": "ENST00000961355.1",
          "protein_id": "ENSP00000631414.1",
          "transcript_support_level": null,
          "aa_start": 475,
          "aa_end": null,
          "aa_length": 525,
          "cds_start": 1423,
          "cds_end": null,
          "cds_length": 1578,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000961355.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "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": "NSMF",
          "gene_hgnc_id": 29843,
          "hgvs_c": "c.1417A>G",
          "hgvs_p": "p.Thr473Ala",
          "transcript": "ENST00000934995.1",
          "protein_id": "ENSP00000605054.1",
          "transcript_support_level": null,
          "aa_start": 473,
          "aa_end": null,
          "aa_length": 523,
          "cds_start": 1417,
          "cds_end": null,
          "cds_length": 1572,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000934995.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "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": "NSMF",
          "gene_hgnc_id": 29843,
          "hgvs_c": "c.1369A>G",
          "hgvs_p": "p.Thr457Ala",
          "transcript": "NM_001130970.2",
          "protein_id": "NP_001124442.1",
          "transcript_support_level": null,
          "aa_start": 457,
          "aa_end": null,
          "aa_length": 507,
          "cds_start": 1369,
          "cds_end": null,
          "cds_length": 1524,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001130970.2"
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "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": "NSMF",
          "gene_hgnc_id": 29843,
          "hgvs_c": "c.1369A>G",
          "hgvs_p": "p.Thr457Ala",
          "transcript": "ENST00000437259.5",
          "protein_id": "ENSP00000412007.1",
          "transcript_support_level": 5,
          "aa_start": 457,
          "aa_end": null,
          "aa_length": 507,
          "cds_start": 1369,
          "cds_end": null,
          "cds_length": 1524,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
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      "clinvar_submissions_summary": "null",
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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.