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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: 15-89629051-G-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=89629051&ref=G&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "15",
      "pos": 89629051,
      "ref": "G",
      "alt": "T",
      "effect": "missense_variant",
      "transcript": "NM_198525.3",
      "consequences": [
        {
          "aa_ref": "L",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIF7",
          "gene_hgnc_id": 30497,
          "hgvs_c": "c.3589C>A",
          "hgvs_p": "p.Leu1197Met",
          "transcript": "NM_198525.3",
          "protein_id": "NP_940927.2",
          "transcript_support_level": null,
          "aa_start": 1197,
          "aa_end": null,
          "aa_length": 1343,
          "cds_start": 3589,
          "cds_end": null,
          "cds_length": 4032,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000394412.8",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_198525.3"
        },
        {
          "aa_ref": "L",
          "aa_alt": "M",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIF7",
          "gene_hgnc_id": 30497,
          "hgvs_c": "c.3589C>A",
          "hgvs_p": "p.Leu1197Met",
          "transcript": "ENST00000394412.8",
          "protein_id": "ENSP00000377934.3",
          "transcript_support_level": 5,
          "aa_start": 1197,
          "aa_end": null,
          "aa_length": 1343,
          "cds_start": 3589,
          "cds_end": null,
          "cds_length": 4032,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_198525.3",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000394412.8"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "TICRR",
          "gene_hgnc_id": 28704,
          "hgvs_c": "n.*97-379G>T",
          "hgvs_p": null,
          "transcript": "ENST00000561095.1",
          "protein_id": "ENSP00000453922.1",
          "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": "nonsense_mediated_decay",
          "feature": "ENST00000561095.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIF7",
          "gene_hgnc_id": 30497,
          "hgvs_c": "c.3712C>A",
          "hgvs_p": "p.Leu1238Met",
          "transcript": "ENST00000696512.1",
          "protein_id": "ENSP00000512678.1",
          "transcript_support_level": null,
          "aa_start": 1238,
          "aa_end": null,
          "aa_length": 1384,
          "cds_start": 3712,
          "cds_end": null,
          "cds_length": 4155,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000696512.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIF7",
          "gene_hgnc_id": 30497,
          "hgvs_c": "c.3601C>A",
          "hgvs_p": "p.Leu1201Met",
          "transcript": "ENST00000946200.1",
          "protein_id": "ENSP00000616259.1",
          "transcript_support_level": null,
          "aa_start": 1201,
          "aa_end": null,
          "aa_length": 1347,
          "cds_start": 3601,
          "cds_end": null,
          "cds_length": 4044,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000946200.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIF7",
          "gene_hgnc_id": 30497,
          "hgvs_c": "c.3589C>A",
          "hgvs_p": "p.Leu1197Met",
          "transcript": "ENST00000896349.1",
          "protein_id": "ENSP00000566408.1",
          "transcript_support_level": null,
          "aa_start": 1197,
          "aa_end": null,
          "aa_length": 1343,
          "cds_start": 3589,
          "cds_end": null,
          "cds_length": 4032,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000896349.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIF7",
          "gene_hgnc_id": 30497,
          "hgvs_c": "c.3586C>A",
          "hgvs_p": "p.Leu1196Met",
          "transcript": "ENST00000896344.1",
          "protein_id": "ENSP00000566403.1",
          "transcript_support_level": null,
          "aa_start": 1196,
          "aa_end": null,
          "aa_length": 1342,
          "cds_start": 3586,
          "cds_end": null,
          "cds_length": 4029,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000896344.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIF7",
          "gene_hgnc_id": 30497,
          "hgvs_c": "c.3586C>A",
          "hgvs_p": "p.Leu1196Met",
          "transcript": "ENST00000896345.1",
          "protein_id": "ENSP00000566404.1",
          "transcript_support_level": null,
          "aa_start": 1196,
          "aa_end": null,
          "aa_length": 1342,
          "cds_start": 3586,
          "cds_end": null,
          "cds_length": 4029,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000896345.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIF7",
          "gene_hgnc_id": 30497,
          "hgvs_c": "c.3586C>A",
          "hgvs_p": "p.Leu1196Met",
          "transcript": "ENST00000896346.1",
          "protein_id": "ENSP00000566405.1",
          "transcript_support_level": null,
          "aa_start": 1196,
          "aa_end": null,
          "aa_length": 1342,
          "cds_start": 3586,
          "cds_end": null,
          "cds_length": 4029,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000896346.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIF7",
          "gene_hgnc_id": 30497,
          "hgvs_c": "c.3586C>A",
          "hgvs_p": "p.Leu1196Met",
          "transcript": "ENST00000896348.1",
          "protein_id": "ENSP00000566407.1",
          "transcript_support_level": null,
          "aa_start": 1196,
          "aa_end": null,
          "aa_length": 1342,
          "cds_start": 3586,
          "cds_end": null,
          "cds_length": 4029,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000896348.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIF7",
          "gene_hgnc_id": 30497,
          "hgvs_c": "c.3586C>A",
          "hgvs_p": "p.Leu1196Met",
          "transcript": "ENST00000929691.1",
          "protein_id": "ENSP00000599750.1",
          "transcript_support_level": null,
          "aa_start": 1196,
          "aa_end": null,
          "aa_length": 1342,
          "cds_start": 3586,
          "cds_end": null,
          "cds_length": 4029,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000929691.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIF7",
          "gene_hgnc_id": 30497,
          "hgvs_c": "c.3586C>A",
          "hgvs_p": "p.Leu1196Met",
          "transcript": "ENST00000929694.1",
          "protein_id": "ENSP00000599753.1",
          "transcript_support_level": null,
          "aa_start": 1196,
          "aa_end": null,
          "aa_length": 1342,
          "cds_start": 3586,
          "cds_end": null,
          "cds_length": 4029,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000929694.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIF7",
          "gene_hgnc_id": 30497,
          "hgvs_c": "c.3586C>A",
          "hgvs_p": "p.Leu1196Met",
          "transcript": "ENST00000946199.1",
          "protein_id": "ENSP00000616258.1",
          "transcript_support_level": null,
          "aa_start": 1196,
          "aa_end": null,
          "aa_length": 1342,
          "cds_start": 3586,
          "cds_end": null,
          "cds_length": 4029,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000946199.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIF7",
          "gene_hgnc_id": 30497,
          "hgvs_c": "c.3586C>A",
          "hgvs_p": "p.Leu1196Met",
          "transcript": "ENST00000946201.1",
          "protein_id": "ENSP00000616260.1",
          "transcript_support_level": null,
          "aa_start": 1196,
          "aa_end": null,
          "aa_length": 1342,
          "cds_start": 3586,
          "cds_end": null,
          "cds_length": 4029,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000946201.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIF7",
          "gene_hgnc_id": 30497,
          "hgvs_c": "c.3583C>A",
          "hgvs_p": "p.Leu1195Met",
          "transcript": "ENST00000896347.1",
          "protein_id": "ENSP00000566406.1",
          "transcript_support_level": null,
          "aa_start": 1195,
          "aa_end": null,
          "aa_length": 1341,
          "cds_start": 3583,
          "cds_end": null,
          "cds_length": 4026,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000896347.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIF7",
          "gene_hgnc_id": 30497,
          "hgvs_c": "c.3583C>A",
          "hgvs_p": "p.Leu1195Met",
          "transcript": "ENST00000929695.1",
          "protein_id": "ENSP00000599754.1",
          "transcript_support_level": null,
          "aa_start": 1195,
          "aa_end": null,
          "aa_length": 1341,
          "cds_start": 3583,
          "cds_end": null,
          "cds_length": 4026,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000929695.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIF7",
          "gene_hgnc_id": 30497,
          "hgvs_c": "c.3583C>A",
          "hgvs_p": "p.Leu1195Met",
          "transcript": "ENST00000946205.1",
          "protein_id": "ENSP00000616264.1",
          "transcript_support_level": null,
          "aa_start": 1195,
          "aa_end": null,
          "aa_length": 1341,
          "cds_start": 3583,
          "cds_end": null,
          "cds_length": 4026,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000946205.1"
        },
        {
          "aa_ref": "L",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIF7",
          "gene_hgnc_id": 30497,
          "hgvs_c": "c.3577C>A",
          "hgvs_p": "p.Leu1193Met",
          "transcript": "ENST00000946206.1",
          "protein_id": "ENSP00000616265.1",
          "transcript_support_level": null,
          "aa_start": 1193,
          "aa_end": null,
          "aa_length": 1339,
          "cds_start": 3577,
          "cds_end": null,
          "cds_length": 4020,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
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        },
        {
          "aa_ref": "L",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIF7",
          "gene_hgnc_id": 30497,
          "hgvs_c": "c.3589C>A",
          "hgvs_p": "p.Leu1197Met",
          "transcript": "ENST00000929693.1",
          "protein_id": "ENSP00000599752.1",
          "transcript_support_level": null,
          "aa_start": 1197,
          "aa_end": null,
          "aa_length": 1334,
          "cds_start": 3589,
          "cds_end": null,
          "cds_length": 4005,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000929693.1"
        },
        {
          "aa_ref": "L",
          "aa_alt": "M",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KIF7",
          "gene_hgnc_id": 30497,
          "hgvs_c": "c.3586C>A",
          "hgvs_p": "p.Leu1196Met",
          "transcript": "ENST00000929697.1",
          "protein_id": "ENSP00000599756.1",
          "transcript_support_level": null,
          "aa_start": 1196,
          "aa_end": null,
          "aa_length": 1333,
          "cds_start": 3586,
          "cds_end": null,
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}