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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: 19-51265837-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=51265837&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "19",
      "pos": 51265837,
      "ref": "C",
      "alt": "T",
      "effect": "missense_variant",
      "transcript": "ENST00000601727.6",
      "consequences": [
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SIGLECL1",
          "gene_hgnc_id": 26856,
          "hgvs_c": "c.365C>T",
          "hgvs_p": "p.Ala122Val",
          "transcript": "NM_001385465.1",
          "protein_id": "NP_001372394.1",
          "transcript_support_level": null,
          "aa_start": 122,
          "aa_end": null,
          "aa_length": 197,
          "cds_start": 365,
          "cds_end": null,
          "cds_length": 594,
          "cdna_start": 1021,
          "cdna_end": null,
          "cdna_length": 1983,
          "mane_select": "ENST00000601727.6",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SIGLECL1",
          "gene_hgnc_id": 26856,
          "hgvs_c": "c.365C>T",
          "hgvs_p": "p.Ala122Val",
          "transcript": "ENST00000601727.6",
          "protein_id": "ENSP00000469601.2",
          "transcript_support_level": 3,
          "aa_start": 122,
          "aa_end": null,
          "aa_length": 197,
          "cds_start": 365,
          "cds_end": null,
          "cds_length": 594,
          "cdna_start": 1021,
          "cdna_end": null,
          "cdna_length": 1983,
          "mane_select": "NM_001385465.1",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SIGLECL1",
          "gene_hgnc_id": 26856,
          "hgvs_c": "c.365C>T",
          "hgvs_p": "p.Ala122Val",
          "transcript": "ENST00000614422.4",
          "protein_id": "ENSP00000480286.1",
          "transcript_support_level": 1,
          "aa_start": 122,
          "aa_end": null,
          "aa_length": 197,
          "cds_start": 365,
          "cds_end": null,
          "cds_length": 594,
          "cdna_start": 556,
          "cdna_end": null,
          "cdna_length": 1516,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SIGLECL1",
          "gene_hgnc_id": 26856,
          "hgvs_c": "c.83C>T",
          "hgvs_p": "p.Ala28Val",
          "transcript": "ENST00000597824.1",
          "protein_id": "ENSP00000472702.1",
          "transcript_support_level": 1,
          "aa_start": 28,
          "aa_end": null,
          "aa_length": 103,
          "cds_start": 83,
          "cds_end": null,
          "cds_length": 312,
          "cdna_start": 245,
          "cdna_end": null,
          "cdna_length": 870,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SIGLECL1",
          "gene_hgnc_id": 26856,
          "hgvs_c": "n.750C>T",
          "hgvs_p": null,
          "transcript": "ENST00000593968.1",
          "protein_id": null,
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 999,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SIGLECL1",
          "gene_hgnc_id": 26856,
          "hgvs_c": "c.365C>T",
          "hgvs_p": "p.Ala122Val",
          "transcript": "NM_001385466.1",
          "protein_id": "NP_001372395.1",
          "transcript_support_level": null,
          "aa_start": 122,
          "aa_end": null,
          "aa_length": 197,
          "cds_start": 365,
          "cds_end": null,
          "cds_length": 594,
          "cdna_start": 620,
          "cdna_end": null,
          "cdna_length": 1582,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SIGLECL1",
          "gene_hgnc_id": 26856,
          "hgvs_c": "c.365C>T",
          "hgvs_p": "p.Ala122Val",
          "transcript": "NM_173635.3",
          "protein_id": "NP_775906.1",
          "transcript_support_level": null,
          "aa_start": 122,
          "aa_end": null,
          "aa_length": 197,
          "cds_start": 365,
          "cds_end": null,
          "cds_length": 594,
          "cdna_start": 714,
          "cdna_end": null,
          "cdna_length": 1676,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SIGLECL1",
          "gene_hgnc_id": 26856,
          "hgvs_c": "c.365C>T",
          "hgvs_p": "p.Ala122Val",
          "transcript": "ENST00000316401.11",
          "protein_id": "ENSP00000321249.6",
          "transcript_support_level": 2,
          "aa_start": 122,
          "aa_end": null,
          "aa_length": 197,
          "cds_start": 365,
          "cds_end": null,
          "cds_length": 594,
          "cdna_start": 746,
          "cdna_end": null,
          "cdna_length": 1708,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SIGLECL1",
          "gene_hgnc_id": 26856,
          "hgvs_c": "c.365C>T",
          "hgvs_p": "p.Ala122Val",
          "transcript": "ENST00000597610.5",
          "protein_id": "ENSP00000469589.1",
          "transcript_support_level": 5,
          "aa_start": 122,
          "aa_end": null,
          "aa_length": 139,
          "cds_start": 365,
          "cds_end": null,
          "cds_length": 421,
          "cdna_start": 604,
          "cdna_end": null,
          "cdna_length": 660,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SIGLECL1",
          "gene_hgnc_id": 26856,
          "hgvs_c": "c.83C>T",
          "hgvs_p": "p.Ala28Val",
          "transcript": "NM_001308437.2",
          "protein_id": "NP_001295366.1",
          "transcript_support_level": null,
          "aa_start": 28,
          "aa_end": null,
          "aa_length": 103,
          "cds_start": 83,
          "cds_end": null,
          "cds_length": 312,
          "cdna_start": 739,
          "cdna_end": null,
          "cdna_length": 1701,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SIGLECL1",
          "gene_hgnc_id": 26856,
          "hgvs_c": "c.83C>T",
          "hgvs_p": "p.Ala28Val",
          "transcript": "NM_001385467.1",
          "protein_id": "NP_001372396.1",
          "transcript_support_level": null,
          "aa_start": 28,
          "aa_end": null,
          "aa_length": 103,
          "cds_start": 83,
          "cds_end": null,
          "cds_length": 312,
          "cdna_start": 432,
          "cdna_end": null,
          "cdna_length": 1394,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SIGLECL1",
          "gene_hgnc_id": 26856,
          "hgvs_c": "c.365C>T",
          "hgvs_p": "p.Ala122Val",
          "transcript": "XM_011526821.2",
          "protein_id": "XP_011525123.1",
          "transcript_support_level": null,
          "aa_start": 122,
          "aa_end": null,
          "aa_length": 197,
          "cds_start": 365,
          "cds_end": null,
          "cds_length": 594,
          "cdna_start": 659,
          "cdna_end": null,
          "cdna_length": 1621,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SIGLECL1",
          "gene_hgnc_id": 26856,
          "hgvs_c": "n.748C>T",
          "hgvs_p": null,
          "transcript": "NR_102324.2",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1710,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "SIGLECL1",
          "gene_hgnc_id": 26856,
          "hgvs_c": "n.527C>T",
          "hgvs_p": null,
          "transcript": "NR_169627.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1489,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000268595",
          "gene_hgnc_id": null,
          "hgvs_c": "n.243+4326G>A",
          "hgvs_p": null,
          "transcript": "ENST00000597569.1",
          "protein_id": null,
          "transcript_support_level": 4,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 547,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000268595",
          "gene_hgnc_id": null,
          "hgvs_c": "n.243+4326G>A",
          "hgvs_p": null,
          "transcript": "ENST00000716537.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 811,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000268595",
          "gene_hgnc_id": null,
          "hgvs_c": "n.243+4326G>A",
          "hgvs_p": null,
          "transcript": "ENST00000716538.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 828,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000268595",
          "gene_hgnc_id": null,
          "hgvs_c": "n.245+4326G>A",
          "hgvs_p": null,
          "transcript": "ENST00000716539.1",
          "protein_id": null,
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          "aa_start": null,
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          "aa_length": null,
          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 762,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000268595",
          "gene_hgnc_id": null,
          "hgvs_c": "n.231+4326G>A",
          "hgvs_p": null,
          "transcript": "ENST00000819409.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 907,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000268595",
          "gene_hgnc_id": null,
          "hgvs_c": "n.253+4326G>A",
          "hgvs_p": null,
          "transcript": "ENST00000819410.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 851,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000268595",
          "gene_hgnc_id": null,
          "hgvs_c": "n.224+4326G>A",
          "hgvs_p": null,
          "transcript": "ENST00000819411.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
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      "acmg_by_gene": [
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          "verdict": "Uncertain_significance",
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          "verdict": "Uncertain_significance",
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          "verdict": "Uncertain_significance",
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      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
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  ],
  "message": null
}