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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: 17-35106466-T-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=35106466&ref=T&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "17",
      "pos": 35106466,
      "ref": "T",
      "alt": "A",
      "effect": "missense_variant",
      "transcript": "ENST00000345365.11",
      "consequences": [
        {
          "aa_ref": "R",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RAD51D",
          "gene_hgnc_id": 9823,
          "hgvs_c": "c.496A>T",
          "hgvs_p": "p.Arg166Trp",
          "transcript": "NM_002878.4",
          "protein_id": "NP_002869.3",
          "transcript_support_level": null,
          "aa_start": 166,
          "aa_end": null,
          "aa_length": 328,
          "cds_start": 496,
          "cds_end": null,
          "cds_length": 987,
          "cdna_start": 743,
          "cdna_end": null,
          "cdna_length": 9966,
          "mane_select": "ENST00000345365.11",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "W",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RAD51D",
          "gene_hgnc_id": 9823,
          "hgvs_c": "c.496A>T",
          "hgvs_p": "p.Arg166Trp",
          "transcript": "ENST00000345365.11",
          "protein_id": "ENSP00000338790.6",
          "transcript_support_level": 1,
          "aa_start": 166,
          "aa_end": null,
          "aa_length": 328,
          "cds_start": 496,
          "cds_end": null,
          "cds_length": 987,
          "cdna_start": 743,
          "cdna_end": null,
          "cdna_length": 9966,
          "mane_select": "NM_002878.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RAD51D",
          "gene_hgnc_id": 9823,
          "hgvs_c": "c.361A>T",
          "hgvs_p": "p.Arg121Trp",
          "transcript": "ENST00000586186.3",
          "protein_id": "ENSP00000468273.3",
          "transcript_support_level": 1,
          "aa_start": 121,
          "aa_end": null,
          "aa_length": 283,
          "cds_start": 361,
          "cds_end": null,
          "cds_length": 852,
          "cdna_start": 489,
          "cdna_end": null,
          "cdna_length": 3336,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "W",
          "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": "ENSG00000267618",
          "gene_hgnc_id": null,
          "hgvs_c": "c.19A>T",
          "hgvs_p": "p.Arg7Trp",
          "transcript": "ENST00000593039.5",
          "protein_id": "ENSP00000466834.1",
          "transcript_support_level": 2,
          "aa_start": 7,
          "aa_end": null,
          "aa_length": 272,
          "cds_start": 19,
          "cds_end": null,
          "cds_length": 819,
          "cdna_start": 219,
          "cdna_end": null,
          "cdna_length": 1638,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RAD51D",
          "gene_hgnc_id": 9823,
          "hgvs_c": "c.160A>T",
          "hgvs_p": "p.Arg54Trp",
          "transcript": "ENST00000335858.11",
          "protein_id": "ENSP00000338408.6",
          "transcript_support_level": 1,
          "aa_start": 54,
          "aa_end": null,
          "aa_length": 216,
          "cds_start": 160,
          "cds_end": null,
          "cds_length": 651,
          "cdna_start": 292,
          "cdna_end": null,
          "cdna_length": 1353,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RAD51D",
          "gene_hgnc_id": 9823,
          "hgvs_c": "n.*318A>T",
          "hgvs_p": null,
          "transcript": "ENST00000585343.5",
          "protein_id": "ENSP00000465007.1",
          "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": 603,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RAD51D",
          "gene_hgnc_id": 9823,
          "hgvs_c": "n.*227A>T",
          "hgvs_p": null,
          "transcript": "ENST00000586044.5",
          "protein_id": "ENSP00000465584.1",
          "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": 1571,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RAD51D",
          "gene_hgnc_id": 9823,
          "hgvs_c": "n.*90A>T",
          "hgvs_p": null,
          "transcript": "ENST00000586210.5",
          "protein_id": "ENSP00000465612.1",
          "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": 1194,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RAD51D",
          "gene_hgnc_id": 9823,
          "hgvs_c": "n.*101A>T",
          "hgvs_p": null,
          "transcript": "ENST00000592850.5",
          "protein_id": "ENSP00000468724.1",
          "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": 386,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RAD51D",
          "gene_hgnc_id": 9823,
          "hgvs_c": "n.182A>T",
          "hgvs_p": null,
          "transcript": "ENST00000592928.2",
          "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": 207,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RAD51D",
          "gene_hgnc_id": 9823,
          "hgvs_c": "n.*318A>T",
          "hgvs_p": null,
          "transcript": "ENST00000585343.5",
          "protein_id": "ENSP00000465007.1",
          "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": 603,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RAD51D",
          "gene_hgnc_id": 9823,
          "hgvs_c": "n.*227A>T",
          "hgvs_p": null,
          "transcript": "ENST00000586044.5",
          "protein_id": "ENSP00000465584.1",
          "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": 1571,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RAD51D",
          "gene_hgnc_id": 9823,
          "hgvs_c": "n.*90A>T",
          "hgvs_p": null,
          "transcript": "ENST00000586210.5",
          "protein_id": "ENSP00000465612.1",
          "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": 1194,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RAD51D",
          "gene_hgnc_id": 9823,
          "hgvs_c": "n.*101A>T",
          "hgvs_p": null,
          "transcript": "ENST00000592850.5",
          "protein_id": "ENSP00000468724.1",
          "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": 386,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RAD51D",
          "gene_hgnc_id": 9823,
          "hgvs_c": "c.556A>T",
          "hgvs_p": "p.Arg186Trp",
          "transcript": "NM_001142571.2",
          "protein_id": "NP_001136043.1",
          "transcript_support_level": null,
          "aa_start": 186,
          "aa_end": null,
          "aa_length": 348,
          "cds_start": 556,
          "cds_end": null,
          "cds_length": 1047,
          "cdna_start": 701,
          "cdna_end": null,
          "cdna_length": 9924,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RAD51D",
          "gene_hgnc_id": 9823,
          "hgvs_c": "c.556A>T",
          "hgvs_p": "p.Arg186Trp",
          "transcript": "ENST00000590016.6",
          "protein_id": "ENSP00000466399.1",
          "transcript_support_level": 2,
          "aa_start": 186,
          "aa_end": null,
          "aa_length": 348,
          "cds_start": 556,
          "cds_end": null,
          "cds_length": 1047,
          "cdna_start": 803,
          "cdna_end": null,
          "cdna_length": 10026,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RAD51D",
          "gene_hgnc_id": 9823,
          "hgvs_c": "c.496A>T",
          "hgvs_p": "p.Arg166Trp",
          "transcript": "ENST00000394589.8",
          "protein_id": "ENSP00000378090.4",
          "transcript_support_level": 5,
          "aa_start": 166,
          "aa_end": null,
          "aa_length": 328,
          "cds_start": 496,
          "cds_end": null,
          "cds_length": 987,
          "cdna_start": 635,
          "cdna_end": null,
          "cdna_length": 2287,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RAD51D",
          "gene_hgnc_id": 9823,
          "hgvs_c": "c.160A>T",
          "hgvs_p": "p.Arg54Trp",
          "transcript": "NM_133629.3",
          "protein_id": "NP_598332.1",
          "transcript_support_level": null,
          "aa_start": 54,
          "aa_end": null,
          "aa_length": 216,
          "cds_start": 160,
          "cds_end": null,
          "cds_length": 651,
          "cdna_start": 305,
          "cdna_end": null,
          "cdna_length": 9528,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RAD51D",
          "gene_hgnc_id": 9823,
          "hgvs_c": "c.139A>T",
          "hgvs_p": "p.Arg47Trp",
          "transcript": "ENST00000587405.6",
          "protein_id": "ENSP00000466478.2",
          "transcript_support_level": 5,
          "aa_start": 47,
          "aa_end": null,
          "aa_length": 209,
          "cds_start": 139,
          "cds_end": null,
          "cds_length": 630,
          "cdna_start": 424,
          "cdna_end": null,
          "cdna_length": 1444,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "RAD51D",
          "gene_hgnc_id": 9823,
          "hgvs_c": "c.139A>T",
          "hgvs_p": "p.Arg47Trp",
          "transcript": "ENST00000592577.6",
          "protein_id": "ENSP00000466839.2",
          "transcript_support_level": 5,
          "aa_start": 47,
          "aa_end": null,
          "aa_length": 209,
          "cds_start": 139,
          "cds_end": null,
          "cds_length": 630,
          "cdna_start": 516,
          "cdna_end": null,
          "cdna_length": 2082,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "R",
          "aa_alt": "W",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ENSG00000267618",
          "gene_hgnc_id": null,
          "hgvs_c": "c.139A>T",
          "hgvs_p": "p.Arg47Trp",
          "transcript": "ENST00000592181.1",
          "protein_id": "ENSP00000464799.1",
          "transcript_support_level": 5,
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}