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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: 5-90705508-C-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=90705508&ref=C&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "5",
      "pos": 90705508,
      "ref": "C",
      "alt": "A",
      "effect": "stop_gained",
      "transcript": "ENST00000405460.9",
      "consequences": [
        {
          "aa_ref": "S",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 37,
          "exon_rank_end": null,
          "exon_count": 90,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ADGRV1",
          "gene_hgnc_id": 17416,
          "hgvs_c": "c.8495C>A",
          "hgvs_p": "p.Ser2832*",
          "transcript": "NM_032119.4",
          "protein_id": "NP_115495.3",
          "transcript_support_level": null,
          "aa_start": 2832,
          "aa_end": null,
          "aa_length": 6306,
          "cds_start": 8495,
          "cds_end": null,
          "cds_length": 18921,
          "cdna_start": 8594,
          "cdna_end": null,
          "cdna_length": 19557,
          "mane_select": "ENST00000405460.9",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "*",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 37,
          "exon_rank_end": null,
          "exon_count": 90,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ADGRV1",
          "gene_hgnc_id": 17416,
          "hgvs_c": "c.8495C>A",
          "hgvs_p": "p.Ser2832*",
          "transcript": "ENST00000405460.9",
          "protein_id": "ENSP00000384582.2",
          "transcript_support_level": 1,
          "aa_start": 2832,
          "aa_end": null,
          "aa_length": 6306,
          "cds_start": 8495,
          "cds_end": null,
          "cds_length": 18921,
          "cdna_start": 8594,
          "cdna_end": null,
          "cdna_length": 19557,
          "mane_select": "NM_032119.4",
          "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": 5,
          "exon_rank_end": null,
          "exon_count": 26,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ADGRV1",
          "gene_hgnc_id": 17416,
          "hgvs_c": "n.1192C>A",
          "hgvs_p": null,
          "transcript": "ENST00000509621.1",
          "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": 5211,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 27,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ADGRV1",
          "gene_hgnc_id": 17416,
          "hgvs_c": "c.5786C>A",
          "hgvs_p": "p.Ser1929*",
          "transcript": "ENST00000640403.1",
          "protein_id": "ENSP00000492531.1",
          "transcript_support_level": 5,
          "aa_start": 1929,
          "aa_end": null,
          "aa_length": 2037,
          "cds_start": 5786,
          "cds_end": null,
          "cds_length": 6115,
          "cdna_start": 6394,
          "cdna_end": null,
          "cdna_length": 6723,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 37,
          "exon_rank_end": null,
          "exon_count": 90,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ADGRV1",
          "gene_hgnc_id": 17416,
          "hgvs_c": "c.8516C>A",
          "hgvs_p": "p.Ser2839*",
          "transcript": "XM_017009963.3",
          "protein_id": "XP_016865452.1",
          "transcript_support_level": null,
          "aa_start": 2839,
          "aa_end": null,
          "aa_length": 6313,
          "cds_start": 8516,
          "cds_end": null,
          "cds_length": 18942,
          "cdna_start": 8615,
          "cdna_end": null,
          "cdna_length": 19578,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 37,
          "exon_rank_end": null,
          "exon_count": 90,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ADGRV1",
          "gene_hgnc_id": 17416,
          "hgvs_c": "c.8513C>A",
          "hgvs_p": "p.Ser2838*",
          "transcript": "XM_017009964.3",
          "protein_id": "XP_016865453.1",
          "transcript_support_level": null,
          "aa_start": 2838,
          "aa_end": null,
          "aa_length": 6312,
          "cds_start": 8513,
          "cds_end": null,
          "cds_length": 18939,
          "cdna_start": 8612,
          "cdna_end": null,
          "cdna_length": 19575,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 37,
          "exon_rank_end": null,
          "exon_count": 90,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ADGRV1",
          "gene_hgnc_id": 17416,
          "hgvs_c": "c.8513C>A",
          "hgvs_p": "p.Ser2838*",
          "transcript": "XM_017009965.2",
          "protein_id": "XP_016865454.1",
          "transcript_support_level": null,
          "aa_start": 2838,
          "aa_end": null,
          "aa_length": 6312,
          "cds_start": 8513,
          "cds_end": null,
          "cds_length": 18939,
          "cdna_start": 8631,
          "cdna_end": null,
          "cdna_length": 19594,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 37,
          "exon_rank_end": null,
          "exon_count": 90,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ADGRV1",
          "gene_hgnc_id": 17416,
          "hgvs_c": "c.8492C>A",
          "hgvs_p": "p.Ser2831*",
          "transcript": "XM_047417824.1",
          "protein_id": "XP_047273780.1",
          "transcript_support_level": null,
          "aa_start": 2831,
          "aa_end": null,
          "aa_length": 6305,
          "cds_start": 8492,
          "cds_end": null,
          "cds_length": 18918,
          "cdna_start": 8591,
          "cdna_end": null,
          "cdna_length": 19554,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 36,
          "exon_rank_end": null,
          "exon_count": 89,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ADGRV1",
          "gene_hgnc_id": 17416,
          "hgvs_c": "c.8435C>A",
          "hgvs_p": "p.Ser2812*",
          "transcript": "XM_017009966.3",
          "protein_id": "XP_016865455.1",
          "transcript_support_level": null,
          "aa_start": 2812,
          "aa_end": null,
          "aa_length": 6286,
          "cds_start": 8435,
          "cds_end": null,
          "cds_length": 18861,
          "cdna_start": 8534,
          "cdna_end": null,
          "cdna_length": 19497,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 36,
          "exon_rank_end": null,
          "exon_count": 89,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ADGRV1",
          "gene_hgnc_id": 17416,
          "hgvs_c": "c.8420C>A",
          "hgvs_p": "p.Ser2807*",
          "transcript": "XM_017009967.2",
          "protein_id": "XP_016865456.1",
          "transcript_support_level": null,
          "aa_start": 2807,
          "aa_end": null,
          "aa_length": 6281,
          "cds_start": 8420,
          "cds_end": null,
          "cds_length": 18846,
          "cdna_start": 8519,
          "cdna_end": null,
          "cdna_length": 19482,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 37,
          "exon_rank_end": null,
          "exon_count": 89,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ADGRV1",
          "gene_hgnc_id": 17416,
          "hgvs_c": "c.8516C>A",
          "hgvs_p": "p.Ser2839*",
          "transcript": "XM_017009968.3",
          "protein_id": "XP_016865457.1",
          "transcript_support_level": null,
          "aa_start": 2839,
          "aa_end": null,
          "aa_length": 6253,
          "cds_start": 8516,
          "cds_end": null,
          "cds_length": 18762,
          "cdna_start": 8615,
          "cdna_end": null,
          "cdna_length": 19398,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 37,
          "exon_rank_end": null,
          "exon_count": 88,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ADGRV1",
          "gene_hgnc_id": 17416,
          "hgvs_c": "c.8516C>A",
          "hgvs_p": "p.Ser2839*",
          "transcript": "XM_017009969.3",
          "protein_id": "XP_016865458.1",
          "transcript_support_level": null,
          "aa_start": 2839,
          "aa_end": null,
          "aa_length": 6171,
          "cds_start": 8516,
          "cds_end": null,
          "cds_length": 18516,
          "cdna_start": 8615,
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          "cdna_length": 19208,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 37,
          "exon_rank_end": null,
          "exon_count": 74,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ADGRV1",
          "gene_hgnc_id": 17416,
          "hgvs_c": "c.8516C>A",
          "hgvs_p": "p.Ser2839*",
          "transcript": "XM_017009970.3",
          "protein_id": "XP_016865459.1",
          "transcript_support_level": null,
          "aa_start": 2839,
          "aa_end": null,
          "aa_length": 5002,
          "cds_start": 8516,
          "cds_end": null,
          "cds_length": 15009,
          "cdna_start": 8615,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 37,
          "exon_rank_end": null,
          "exon_count": 73,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ADGRV1",
          "gene_hgnc_id": 17416,
          "hgvs_c": "c.8516C>A",
          "hgvs_p": "p.Ser2839*",
          "transcript": "XM_017009971.3",
          "protein_id": "XP_016865460.1",
          "transcript_support_level": null,
          "aa_start": 2839,
          "aa_end": null,
          "aa_length": 4963,
          "cds_start": 8516,
          "cds_end": null,
          "cds_length": 14892,
          "cdna_start": 8615,
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          "cdna_length": 16023,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 60,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ADGRV1",
          "gene_hgnc_id": 17416,
          "hgvs_c": "c.1634C>A",
          "hgvs_p": "p.Ser545*",
          "transcript": "XM_017009972.2",
          "protein_id": "XP_016865461.1",
          "transcript_support_level": null,
          "aa_start": 545,
          "aa_end": null,
          "aa_length": 4019,
          "cds_start": 1634,
          "cds_end": null,
          "cds_length": 12060,
          "cdna_start": 1721,
          "cdna_end": null,
          "cdna_length": 12684,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 60,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ADGRV1",
          "gene_hgnc_id": 17416,
          "hgvs_c": "c.1613C>A",
          "hgvs_p": "p.Ser538*",
          "transcript": "XM_017009973.2",
          "protein_id": "XP_016865462.1",
          "transcript_support_level": null,
          "aa_start": 538,
          "aa_end": null,
          "aa_length": 4012,
          "cds_start": 1613,
          "cds_end": null,
          "cds_length": 12039,
          "cdna_start": 1707,
          "cdna_end": null,
          "cdna_length": 12670,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 37,
          "exon_rank_end": null,
          "exon_count": 52,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ADGRV1",
          "gene_hgnc_id": 17416,
          "hgvs_c": "c.8516C>A",
          "hgvs_p": "p.Ser2839*",
          "transcript": "XM_017009974.3",
          "protein_id": "XP_016865463.1",
          "transcript_support_level": null,
          "aa_start": 2839,
          "aa_end": null,
          "aa_length": 3597,
          "cds_start": 8516,
          "cds_end": null,
          "cds_length": 10794,
          "cdna_start": 8615,
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          "cdna_length": 10980,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "S",
          "aa_alt": "*",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "stop_gained"
          ],
          "exon_rank": 37,
          "exon_rank_end": null,
          "exon_count": 52,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ADGRV1",
          "gene_hgnc_id": 17416,
          "hgvs_c": "c.8495C>A",
          "hgvs_p": "p.Ser2832*",
          "transcript": "XM_047417825.1",
          "protein_id": "XP_047273781.1",
          "transcript_support_level": null,
          "aa_start": 2832,
          "aa_end": null,
          "aa_length": 3590,
          "cds_start": 8495,
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          "cdna_start": 8594,
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          "cdna_length": 10980,
          "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": 17,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ADGRV1",
          "gene_hgnc_id": 17416,
          "hgvs_c": "n.3954C>A",
          "hgvs_p": null,
          "transcript": "ENST00000639473.1",
          "protein_id": null,
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
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          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6608,
          "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": 11,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ADGRV1",
          "gene_hgnc_id": 17416,
          "hgvs_c": "n.*2105C>A",
          "hgvs_p": null,
          "transcript": "ENST00000640012.1",
          "protein_id": "ENSP00000492538.1",
          "transcript_support_level": 5,
          "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": 3241,
          "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": 7,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": null,
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          "gene_symbol": "ADGRV1",
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        {
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        },
        {
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          ],
          "exon_rank": null,
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          "exon_count": 5,
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          "gene_symbol": "ADGRV1",
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          "hgvs_c": "n.265+29299C>A",
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          "transcript": "ENST00000639431.1",
          "protein_id": "ENSP00000491057.1",
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        }
      ],
      "gene_symbol": "ADGRV1",
      "gene_hgnc_id": 17416,
      "dbsnp": "rs121909761",
      "frequency_reference_population": null,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 0,
      "gnomad_exomes_af": null,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": null,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": null,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.14300000667572021,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "REVEL",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.143,
      "revel_prediction": "Benign",
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": 0.66,
      "bayesdelnoaf_prediction": "Pathogenic",
      "phylop100way_score": 7.433,
      "phylop100way_prediction": "Uncertain_significance",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
      "dbscsnv_ada_score": null,
      "dbscsnv_ada_prediction": null,
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": 11,
      "acmg_classification": "Pathogenic",
      "acmg_criteria": "PVS1,PM2,PP5",
      "acmg_by_gene": [
        {
          "score": 11,
          "benign_score": 0,
          "pathogenic_score": 11,
          "criteria": [
            "PVS1",
            "PM2",
            "PP5"
          ],
          "verdict": "Pathogenic",
          "transcript": "ENST00000405460.9",
          "gene_symbol": "ADGRV1",
          "hgnc_id": 17416,
          "effects": [
            "stop_gained"
          ],
          "inheritance_mode": "AR,AD",
          "hgvs_c": "c.8495C>A",
          "hgvs_p": "p.Ser2832*"
        }
      ],
      "clinvar_disease": " 4, familial,Febrile seizures",
      "clinvar_classification": "Pathogenic",
      "clinvar_review_status": "no assertion criteria provided",
      "clinvar_submissions_summary": "null",
      "phenotype_combined": "Febrile seizures, familial, 4",
      "pathogenicity_classification_combined": "Pathogenic",
      "custom_annotations": null
    }
  ],
  "message": null
}