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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: 10-76877888-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=76877888&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "10",
      "pos": 76877888,
      "ref": "T",
      "alt": "C",
      "effect": "missense_variant",
      "transcript": "NM_001322830.2",
      "consequences": [
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KCNMA1",
          "gene_hgnc_id": 6284,
          "hgvs_c": "c.3368A>G",
          "hgvs_p": "p.Lys1123Arg",
          "transcript": "ENST00000640807.1",
          "protein_id": "ENSP00000491555.1",
          "transcript_support_level": 1,
          "aa_start": 1123,
          "aa_end": null,
          "aa_length": 1128,
          "cds_start": 3368,
          "cds_end": null,
          "cds_length": 3387,
          "cdna_start": 3368,
          "cdna_end": null,
          "cdna_length": 3387,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KCNMA1",
          "gene_hgnc_id": 6284,
          "hgvs_c": "c.3113A>G",
          "hgvs_p": "p.Lys1038Arg",
          "transcript": "ENST00000604624.6",
          "protein_id": "ENSP00000473714.2",
          "transcript_support_level": 1,
          "aa_start": 1038,
          "aa_end": null,
          "aa_length": 1043,
          "cds_start": 3113,
          "cds_end": null,
          "cds_length": 3132,
          "cdna_start": 3113,
          "cdna_end": null,
          "cdna_length": 11400,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 25,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KCNMA1",
          "gene_hgnc_id": 6284,
          "hgvs_c": "n.*2394A>G",
          "hgvs_p": null,
          "transcript": "ENST00000639691.1",
          "protein_id": "ENSP00000491040.1",
          "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": 3145,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "splice_region_variant",
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KCNMA1",
          "gene_hgnc_id": 6284,
          "hgvs_c": "n.3739A>G",
          "hgvs_p": null,
          "transcript": "ENST00000639851.1",
          "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": 3866,
          "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": 25,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KCNMA1",
          "gene_hgnc_id": 6284,
          "hgvs_c": "n.*2394A>G",
          "hgvs_p": null,
          "transcript": "ENST00000639691.1",
          "protein_id": "ENSP00000491040.1",
          "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": 3145,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "K",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 31,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KCNMA1",
          "gene_hgnc_id": 6284,
          "hgvs_c": "c.3592A>G",
          "hgvs_p": "p.Lys1198Glu",
          "transcript": "ENST00000639591.1",
          "protein_id": "ENSP00000492793.1",
          "transcript_support_level": 5,
          "aa_start": 1198,
          "aa_end": null,
          "aa_length": 1246,
          "cds_start": 3592,
          "cds_end": null,
          "cds_length": 3741,
          "cdna_start": 3725,
          "cdna_end": null,
          "cdna_length": 3888,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "K",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 31,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KCNMA1",
          "gene_hgnc_id": 6284,
          "hgvs_c": "c.3568A>G",
          "hgvs_p": "p.Lys1190Glu",
          "transcript": "ENST00000640605.1",
          "protein_id": "ENSP00000491435.1",
          "transcript_support_level": 5,
          "aa_start": 1190,
          "aa_end": null,
          "aa_length": 1238,
          "cds_start": 3568,
          "cds_end": null,
          "cds_length": 3717,
          "cdna_start": 3701,
          "cdna_end": null,
          "cdna_length": 3864,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 29,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KCNMA1",
          "gene_hgnc_id": 6284,
          "hgvs_c": "c.3692A>G",
          "hgvs_p": "p.Lys1231Arg",
          "transcript": "ENST00000639544.1",
          "protein_id": "ENSP00000492075.1",
          "transcript_support_level": 5,
          "aa_start": 1231,
          "aa_end": null,
          "aa_length": 1236,
          "cds_start": 3692,
          "cds_end": null,
          "cds_length": 3711,
          "cdna_start": 3692,
          "cdna_end": null,
          "cdna_length": 3711,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 31,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KCNMA1",
          "gene_hgnc_id": 6284,
          "hgvs_c": "c.3620A>G",
          "hgvs_p": "p.Lys1207Arg",
          "transcript": "NM_001322830.2",
          "protein_id": "NP_001309759.1",
          "transcript_support_level": null,
          "aa_start": 1207,
          "aa_end": null,
          "aa_length": 1212,
          "cds_start": 3620,
          "cds_end": null,
          "cds_length": 3639,
          "cdna_start": 3786,
          "cdna_end": null,
          "cdna_length": 12072,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 31,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KCNMA1",
          "gene_hgnc_id": 6284,
          "hgvs_c": "c.3620A>G",
          "hgvs_p": "p.Lys1207Arg",
          "transcript": "ENST00000638223.1",
          "protein_id": "ENSP00000492492.1",
          "transcript_support_level": 5,
          "aa_start": 1207,
          "aa_end": null,
          "aa_length": 1212,
          "cds_start": 3620,
          "cds_end": null,
          "cds_length": 3639,
          "cdna_start": 3620,
          "cdna_end": null,
          "cdna_length": 4340,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KCNMA1",
          "gene_hgnc_id": 6284,
          "hgvs_c": "c.3611A>G",
          "hgvs_p": "p.Lys1204Arg",
          "transcript": "ENST00000372443.6",
          "protein_id": "ENSP00000361520.2",
          "transcript_support_level": 5,
          "aa_start": 1204,
          "aa_end": null,
          "aa_length": 1209,
          "cds_start": 3611,
          "cds_end": null,
          "cds_length": 3630,
          "cdna_start": 4338,
          "cdna_end": null,
          "cdna_length": 5059,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KCNMA1",
          "gene_hgnc_id": 6284,
          "hgvs_c": "c.3608A>G",
          "hgvs_p": "p.Lys1203Arg",
          "transcript": "ENST00000639913.1",
          "protein_id": "ENSP00000492241.1",
          "transcript_support_level": 5,
          "aa_start": 1203,
          "aa_end": null,
          "aa_length": 1208,
          "cds_start": 3608,
          "cds_end": null,
          "cds_length": 3627,
          "cdna_start": 3785,
          "cdna_end": null,
          "cdna_length": 12071,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 29,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KCNMA1",
          "gene_hgnc_id": 6284,
          "hgvs_c": "c.3605A>G",
          "hgvs_p": "p.Lys1202Arg",
          "transcript": "NM_001437423.1",
          "protein_id": "NP_001424352.1",
          "transcript_support_level": null,
          "aa_start": 1202,
          "aa_end": null,
          "aa_length": 1207,
          "cds_start": 3605,
          "cds_end": null,
          "cds_length": 3624,
          "cdna_start": 3771,
          "cdna_end": null,
          "cdna_length": 12057,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "K",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 31,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KCNMA1",
          "gene_hgnc_id": 6284,
          "hgvs_c": "c.3442A>G",
          "hgvs_p": "p.Lys1148Glu",
          "transcript": "ENST00000639498.1",
          "protein_id": "ENSP00000492835.1",
          "transcript_support_level": 5,
          "aa_start": 1148,
          "aa_end": null,
          "aa_length": 1196,
          "cds_start": 3442,
          "cds_end": null,
          "cds_length": 3591,
          "cdna_start": 3442,
          "cdna_end": null,
          "cdna_length": 4711,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "K",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 30,
          "exon_rank_end": null,
          "exon_count": 30,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KCNMA1",
          "gene_hgnc_id": 6284,
          "hgvs_c": "c.3406A>G",
          "hgvs_p": "p.Lys1136Glu",
          "transcript": "ENST00000639344.1",
          "protein_id": "ENSP00000492559.1",
          "transcript_support_level": 5,
          "aa_start": 1136,
          "aa_end": null,
          "aa_length": 1184,
          "cds_start": 3406,
          "cds_end": null,
          "cds_length": 3555,
          "cdna_start": 3408,
          "cdna_end": null,
          "cdna_length": 4073,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 29,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KCNMA1",
          "gene_hgnc_id": 6284,
          "hgvs_c": "c.3530A>G",
          "hgvs_p": "p.Lys1177Arg",
          "transcript": "NM_001014797.3",
          "protein_id": "NP_001014797.1",
          "transcript_support_level": null,
          "aa_start": 1177,
          "aa_end": null,
          "aa_length": 1182,
          "cds_start": 3530,
          "cds_end": null,
          "cds_length": 3549,
          "cdna_start": 3696,
          "cdna_end": null,
          "cdna_length": 11982,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 29,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KCNMA1",
          "gene_hgnc_id": 6284,
          "hgvs_c": "c.3527A>G",
          "hgvs_p": "p.Lys1176Arg",
          "transcript": "ENST00000638991.1",
          "protein_id": "ENSP00000490978.1",
          "transcript_support_level": 5,
          "aa_start": 1176,
          "aa_end": null,
          "aa_length": 1181,
          "cds_start": 3527,
          "cds_end": null,
          "cds_length": 3546,
          "cdna_start": 3704,
          "cdna_end": null,
          "cdna_length": 11990,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KCNMA1",
          "gene_hgnc_id": 6284,
          "hgvs_c": "c.3518A>G",
          "hgvs_p": "p.Lys1173Arg",
          "transcript": "NM_001410940.1",
          "protein_id": "NP_001397869.1",
          "transcript_support_level": null,
          "aa_start": 1173,
          "aa_end": null,
          "aa_length": 1178,
          "cds_start": 3518,
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          "cds_length": 3537,
          "cdna_start": 3684,
          "cdna_end": null,
          "cdna_length": 11970,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 28,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KCNMA1",
          "gene_hgnc_id": 6284,
          "hgvs_c": "c.3518A>G",
          "hgvs_p": "p.Lys1173Arg",
          "transcript": "ENST00000639601.1",
          "protein_id": "ENSP00000492806.1",
          "transcript_support_level": 5,
          "aa_start": 1173,
          "aa_end": null,
          "aa_length": 1178,
          "cds_start": 3518,
          "cds_end": null,
          "cds_length": 3537,
          "cdna_start": 3634,
          "cdna_end": null,
          "cdna_length": 11920,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 31,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "KCNMA1",
          "gene_hgnc_id": 6284,
          "hgvs_c": "c.3518A>G",
          "hgvs_p": "p.Lys1173Arg",
          "transcript": "ENST00000640029.1",
          "protein_id": "ENSP00000491463.1",
          "transcript_support_level": 5,
          "aa_start": 1173,
          "aa_end": null,
          "aa_length": 1178,
          "cds_start": 3518,
          "cds_end": null,
          "cds_length": 3537,
          "cdna_start": 3518,
          "cdna_end": null,
          "cdna_length": 3537,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "K",
          "aa_alt": "R",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 30,
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        {
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          "hgvs_c": "n.*2562A>G",
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          "transcript": "ENST00000639968.1",
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        },
        {
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          "consequences": [
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        },
        {
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          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 29,
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          "gene_symbol": "KCNMA1",
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          "hgvs_c": "n.*2341A>G",
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          "transcript": "ENST00000640093.1",
          "protein_id": "ENSP00000492224.1",
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          "feature": null
        }
      ],
      "gene_symbol": "KCNMA1",
      "gene_hgnc_id": 6284,
      "dbsnp": "rs200757039",
      "frequency_reference_population": 0.0000054904026,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 8,
      "gnomad_exomes_af": 0.0000054904,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": 8,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.5219116806983948,
      "computational_prediction_selected": "Uncertain_significance",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": null,
      "splice_prediction_selected": null,
      "splice_source_selected": null,
      "revel_score": 0.409,
      "revel_prediction": "Uncertain_significance",
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": 0.18,
      "bayesdelnoaf_prediction": "Pathogenic",
      "phylop100way_score": 7.674,
      "phylop100way_prediction": "Pathogenic",
      "spliceai_max_score": null,
      "spliceai_max_prediction": null,
      "dbscsnv_ada_score": null,
      "dbscsnv_ada_prediction": null,
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": 0,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "",
      "acmg_by_gene": [
        {
          "score": 0,
          "benign_score": 0,
          "pathogenic_score": 0,
          "criteria": [],
          "verdict": "Uncertain_significance",
          "transcript": "NM_001322830.2",
          "gene_symbol": "KCNMA1",
          "hgnc_id": 6284,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AR,AD",
          "hgvs_c": "c.3620A>G",
          "hgvs_p": "p.Lys1207Arg"
        }
      ],
      "clinvar_disease": "Generalized epilepsy-paroxysmal dyskinesia syndrome",
      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "US:1",
      "phenotype_combined": "Generalized epilepsy-paroxysmal dyskinesia syndrome",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
    }
  ],
  "message": null
}