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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: 6-30340273-A-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=30340273&ref=A&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "6",
      "pos": 30340273,
      "ref": "A",
      "alt": "C",
      "effect": "missense_variant,splice_region_variant",
      "transcript": "NM_021253.4",
      "consequences": [
        {
          "aa_ref": "N",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRIM39",
          "gene_hgnc_id": 10065,
          "hgvs_c": "c.805A>C",
          "hgvs_p": "p.Asn269His",
          "transcript": "ENST00000396547.5",
          "protein_id": "ENSP00000379796.1",
          "transcript_support_level": 1,
          "aa_start": 269,
          "aa_end": null,
          "aa_length": 518,
          "cds_start": 805,
          "cds_end": null,
          "cds_length": 1557,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000396547.5"
        },
        {
          "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": 8,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "TRIM39",
          "gene_hgnc_id": 10065,
          "hgvs_c": "c.804-232A>C",
          "hgvs_p": null,
          "transcript": "NM_001369521.2",
          "protein_id": "NP_001356450.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 488,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1467,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000396551.9",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001369521.2"
        },
        {
          "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": 8,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "TRIM39",
          "gene_hgnc_id": 10065,
          "hgvs_c": "c.804-232A>C",
          "hgvs_p": null,
          "transcript": "ENST00000396551.9",
          "protein_id": "ENSP00000379800.3",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 488,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1467,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_001369521.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000396551.9"
        },
        {
          "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": 11,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "TRIM39-RPP21",
          "gene_hgnc_id": 38845,
          "hgvs_c": "c.804-232A>C",
          "hgvs_p": null,
          "transcript": "ENST00000623385.3",
          "protein_id": "ENSP00000485378.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 503,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1512,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000623385.3"
        },
        {
          "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": 6,
          "intron_rank_end": null,
          "gene_symbol": "TRIM39",
          "gene_hgnc_id": 10065,
          "hgvs_c": "c.804-232A>C",
          "hgvs_p": null,
          "transcript": "ENST00000376659.9",
          "protein_id": "ENSP00000365847.5",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 488,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1467,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000376659.9"
        },
        {
          "aa_ref": "N",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRIM39",
          "gene_hgnc_id": 10065,
          "hgvs_c": "c.805A>C",
          "hgvs_p": "p.Asn269His",
          "transcript": "NM_021253.4",
          "protein_id": "NP_067076.2",
          "transcript_support_level": null,
          "aa_start": 269,
          "aa_end": null,
          "aa_length": 518,
          "cds_start": 805,
          "cds_end": null,
          "cds_length": 1557,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_021253.4"
        },
        {
          "aa_ref": "N",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRIM39",
          "gene_hgnc_id": 10065,
          "hgvs_c": "c.805A>C",
          "hgvs_p": "p.Asn269His",
          "transcript": "ENST00000376656.8",
          "protein_id": "ENSP00000365844.4",
          "transcript_support_level": 2,
          "aa_start": 269,
          "aa_end": null,
          "aa_length": 518,
          "cds_start": 805,
          "cds_end": null,
          "cds_length": 1557,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000376656.8"
        },
        {
          "aa_ref": "N",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRIM39",
          "gene_hgnc_id": 10065,
          "hgvs_c": "c.805A>C",
          "hgvs_p": "p.Asn269His",
          "transcript": "ENST00000883589.1",
          "protein_id": "ENSP00000553648.1",
          "transcript_support_level": null,
          "aa_start": 269,
          "aa_end": null,
          "aa_length": 518,
          "cds_start": 805,
          "cds_end": null,
          "cds_length": 1557,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000883589.1"
        },
        {
          "aa_ref": "N",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRIM39",
          "gene_hgnc_id": 10065,
          "hgvs_c": "c.805A>C",
          "hgvs_p": "p.Asn269His",
          "transcript": "ENST00000929421.1",
          "protein_id": "ENSP00000599480.1",
          "transcript_support_level": null,
          "aa_start": 269,
          "aa_end": null,
          "aa_length": 518,
          "cds_start": 805,
          "cds_end": null,
          "cds_length": 1557,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000929421.1"
        },
        {
          "aa_ref": "N",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRIM39",
          "gene_hgnc_id": 10065,
          "hgvs_c": "c.805A>C",
          "hgvs_p": "p.Asn269His",
          "transcript": "ENST00000929423.1",
          "protein_id": "ENSP00000599482.1",
          "transcript_support_level": null,
          "aa_start": 269,
          "aa_end": null,
          "aa_length": 518,
          "cds_start": 805,
          "cds_end": null,
          "cds_length": 1557,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000929423.1"
        },
        {
          "aa_ref": "N",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRIM39",
          "gene_hgnc_id": 10065,
          "hgvs_c": "c.805A>C",
          "hgvs_p": "p.Asn269His",
          "transcript": "ENST00000929424.1",
          "protein_id": "ENSP00000599483.1",
          "transcript_support_level": null,
          "aa_start": 269,
          "aa_end": null,
          "aa_length": 518,
          "cds_start": 805,
          "cds_end": null,
          "cds_length": 1557,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000929424.1"
        },
        {
          "aa_ref": "N",
          "aa_alt": "H",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant",
            "splice_region_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TRIM39",
          "gene_hgnc_id": 10065,
          "hgvs_c": "c.805A>C",
          "hgvs_p": "p.Asn269His",
          "transcript": "ENST00000944929.1",
          "protein_id": "ENSP00000614988.1",
          "transcript_support_level": null,
          "aa_start": 269,
          "aa_end": null,
          "aa_length": 518,
          "cds_start": 805,
          "cds_end": null,
          "cds_length": 1557,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000944929.1"
        },
        {
          "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": 6,
          "intron_rank_end": null,
          "gene_symbol": "TRIM39",
          "gene_hgnc_id": 10065,
          "hgvs_c": "c.804-11A>C",
          "hgvs_p": null,
          "transcript": "ENST00000883583.1",
          "protein_id": "ENSP00000553642.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 514,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1545,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000883583.1"
        },
        {
          "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": 6,
          "intron_rank_end": null,
          "gene_symbol": "TRIM39",
          "gene_hgnc_id": 10065,
          "hgvs_c": "c.804-11A>C",
          "hgvs_p": null,
          "transcript": "ENST00000883586.1",
          "protein_id": "ENSP00000553645.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 514,
          "cds_start": null,
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          "cds_length": 1545,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000883586.1"
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "TRIM39-RPP21",
          "gene_hgnc_id": 38845,
          "hgvs_c": "c.804-232A>C",
          "hgvs_p": null,
          "transcript": "NM_001199119.1",
          "protein_id": "NP_001186048.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 503,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1512,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001199119.1"
        },
        {
          "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": 6,
          "intron_rank_end": null,
          "gene_symbol": "TRIM39",
          "gene_hgnc_id": 10065,
          "hgvs_c": "c.804-232A>C",
          "hgvs_p": null,
          "transcript": "NM_001369522.1",
          "protein_id": "NP_001356451.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 488,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1467,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001369522.1"
        },
        {
          "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": 7,
          "intron_rank_end": null,
          "gene_symbol": "TRIM39",
          "gene_hgnc_id": 10065,
          "hgvs_c": "c.804-232A>C",
          "hgvs_p": null,
          "transcript": "NM_001369523.1",
          "protein_id": "NP_001356452.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 488,
          "cds_start": null,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001369523.1"
        },
        {
          "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": 8,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "TRIM39",
          "gene_hgnc_id": 10065,
          "hgvs_c": "c.804-232A>C",
          "hgvs_p": null,
          "transcript": "NM_172016.2",
          "protein_id": "NP_742013.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 488,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1467,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_172016.2"
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "TRIM39",
          "gene_hgnc_id": 10065,
          "hgvs_c": "c.804-232A>C",
          "hgvs_p": null,
          "transcript": "ENST00000396548.5",
          "protein_id": "ENSP00000379797.1",
          "transcript_support_level": 5,
          "aa_start": null,
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          "aa_length": 488,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 1467,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000396548.5"
        },
        {
          "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": 7,
          "intron_rank_end": null,
          "gene_symbol": "TRIM39",
          "gene_hgnc_id": 10065,
          "hgvs_c": "c.804-232A>C",
          "hgvs_p": null,
          "transcript": "ENST00000883577.1",
          "protein_id": "ENSP00000553636.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 488,
          "cds_start": null,
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          "cds_length": 1467,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
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          "hgvs_c": "c.805A>C",
          "hgvs_p": "p.Asn269His"
        },
        {
          "score": -6,
          "benign_score": 6,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BP6_Moderate"
          ],
          "verdict": "Likely_benign",
          "transcript": "NM_001199119.1",
          "gene_symbol": "TRIM39-RPP21",
          "hgnc_id": 38845,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "c.804-232A>C",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "not specified",
      "clinvar_classification": "Likely benign",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "LB:1",
      "phenotype_combined": "not specified",
      "pathogenicity_classification_combined": "Likely benign",
      "custom_annotations": null
    }
  ],
  "message": null
}
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