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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: 2-168860880-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=168860880&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "2",
      "pos": 168860880,
      "ref": "G",
      "alt": "A",
      "effect": "missense_variant",
      "transcript": "NM_001039724.4",
      "consequences": [
        {
          "aa_ref": "G",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NOSTRIN",
          "gene_hgnc_id": 20203,
          "hgvs_c": "c.1265G>A",
          "hgvs_p": "p.Gly422Glu",
          "transcript": "NM_001039724.4",
          "protein_id": "NP_001034813.2",
          "transcript_support_level": null,
          "aa_start": 422,
          "aa_end": null,
          "aa_length": 506,
          "cds_start": 1265,
          "cds_end": null,
          "cds_length": 1521,
          "cdna_start": 1275,
          "cdna_end": null,
          "cdna_length": 2075,
          "mane_select": "ENST00000317647.12",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "E",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NOSTRIN",
          "gene_hgnc_id": 20203,
          "hgvs_c": "c.1265G>A",
          "hgvs_p": "p.Gly422Glu",
          "transcript": "ENST00000317647.12",
          "protein_id": "ENSP00000318921.7",
          "transcript_support_level": 1,
          "aa_start": 422,
          "aa_end": null,
          "aa_length": 506,
          "cds_start": 1265,
          "cds_end": null,
          "cds_length": 1521,
          "cdna_start": 1275,
          "cdna_end": null,
          "cdna_length": 2075,
          "mane_select": "NM_001039724.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NOSTRIN",
          "gene_hgnc_id": 20203,
          "hgvs_c": "c.1181G>A",
          "hgvs_p": "p.Gly394Glu",
          "transcript": "ENST00000397209.6",
          "protein_id": "ENSP00000380392.2",
          "transcript_support_level": 1,
          "aa_start": 394,
          "aa_end": null,
          "aa_length": 478,
          "cds_start": 1181,
          "cds_end": null,
          "cds_length": 1437,
          "cdna_start": 1181,
          "cdna_end": null,
          "cdna_length": 1437,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NOSTRIN",
          "gene_hgnc_id": 20203,
          "hgvs_c": "c.1031G>A",
          "hgvs_p": "p.Gly344Glu",
          "transcript": "ENST00000397206.6",
          "protein_id": "ENSP00000380390.2",
          "transcript_support_level": 1,
          "aa_start": 344,
          "aa_end": null,
          "aa_length": 428,
          "cds_start": 1031,
          "cds_end": null,
          "cds_length": 1287,
          "cdna_start": 1190,
          "cdna_end": null,
          "cdna_length": 1446,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NOSTRIN",
          "gene_hgnc_id": 20203,
          "hgvs_c": "c.1031G>A",
          "hgvs_p": "p.Gly344Glu",
          "transcript": "ENST00000445023.6",
          "protein_id": "ENSP00000404413.2",
          "transcript_support_level": 1,
          "aa_start": 344,
          "aa_end": null,
          "aa_length": 428,
          "cds_start": 1031,
          "cds_end": null,
          "cds_length": 1287,
          "cdna_start": 1229,
          "cdna_end": null,
          "cdna_length": 1569,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NOSTRIN",
          "gene_hgnc_id": 20203,
          "hgvs_c": "c.1436G>A",
          "hgvs_p": "p.Gly479Glu",
          "transcript": "NM_001171631.2",
          "protein_id": "NP_001165102.1",
          "transcript_support_level": null,
          "aa_start": 479,
          "aa_end": null,
          "aa_length": 563,
          "cds_start": 1436,
          "cds_end": null,
          "cds_length": 1692,
          "cdna_start": 2194,
          "cdna_end": null,
          "cdna_length": 2994,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NOSTRIN",
          "gene_hgnc_id": 20203,
          "hgvs_c": "c.1436G>A",
          "hgvs_p": "p.Gly479Glu",
          "transcript": "ENST00000444448.6",
          "protein_id": "ENSP00000394051.2",
          "transcript_support_level": 5,
          "aa_start": 479,
          "aa_end": null,
          "aa_length": 563,
          "cds_start": 1436,
          "cds_end": null,
          "cds_length": 1692,
          "cdna_start": 1912,
          "cdna_end": null,
          "cdna_length": 2537,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NOSTRIN",
          "gene_hgnc_id": 20203,
          "hgvs_c": "c.1436G>A",
          "hgvs_p": "p.Gly479Glu",
          "transcript": "ENST00000458381.6",
          "protein_id": "ENSP00000402140.2",
          "transcript_support_level": 2,
          "aa_start": 479,
          "aa_end": null,
          "aa_length": 563,
          "cds_start": 1436,
          "cds_end": null,
          "cds_length": 1692,
          "cdna_start": 2194,
          "cdna_end": null,
          "cdna_length": 2535,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NOSTRIN",
          "gene_hgnc_id": 20203,
          "hgvs_c": "c.1181G>A",
          "hgvs_p": "p.Gly394Glu",
          "transcript": "NM_001171632.2",
          "protein_id": "NP_001165103.1",
          "transcript_support_level": null,
          "aa_start": 394,
          "aa_end": null,
          "aa_length": 478,
          "cds_start": 1181,
          "cds_end": null,
          "cds_length": 1437,
          "cdna_start": 1191,
          "cdna_end": null,
          "cdna_length": 1991,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NOSTRIN",
          "gene_hgnc_id": 20203,
          "hgvs_c": "c.1031G>A",
          "hgvs_p": "p.Gly344Glu",
          "transcript": "NM_052946.4",
          "protein_id": "NP_443178.2",
          "transcript_support_level": null,
          "aa_start": 344,
          "aa_end": null,
          "aa_length": 428,
          "cds_start": 1031,
          "cds_end": null,
          "cds_length": 1287,
          "cdna_start": 1189,
          "cdna_end": null,
          "cdna_length": 1989,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NOSTRIN",
          "gene_hgnc_id": 20203,
          "hgvs_c": "c.1373G>A",
          "hgvs_p": "p.Gly458Glu",
          "transcript": "XM_005246270.2",
          "protein_id": "XP_005246327.1",
          "transcript_support_level": null,
          "aa_start": 458,
          "aa_end": null,
          "aa_length": 542,
          "cds_start": 1373,
          "cds_end": null,
          "cds_length": 1629,
          "cdna_start": 1383,
          "cdna_end": null,
          "cdna_length": 2183,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NOSTRIN",
          "gene_hgnc_id": 20203,
          "hgvs_c": "c.1436G>A",
          "hgvs_p": "p.Gly479Glu",
          "transcript": "XM_006712233.4",
          "protein_id": "XP_006712296.1",
          "transcript_support_level": null,
          "aa_start": 479,
          "aa_end": null,
          "aa_length": 542,
          "cds_start": 1436,
          "cds_end": null,
          "cds_length": 1629,
          "cdna_start": 1446,
          "cdna_end": null,
          "cdna_length": 1812,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NOSTRIN",
          "gene_hgnc_id": 20203,
          "hgvs_c": "c.1436G>A",
          "hgvs_p": "p.Gly479Glu",
          "transcript": "XM_011510540.3",
          "protein_id": "XP_011508842.1",
          "transcript_support_level": null,
          "aa_start": 479,
          "aa_end": null,
          "aa_length": 521,
          "cds_start": 1436,
          "cds_end": null,
          "cds_length": 1566,
          "cdna_start": 1446,
          "cdna_end": null,
          "cdna_length": 1625,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NOSTRIN",
          "gene_hgnc_id": 20203,
          "hgvs_c": "c.1265G>A",
          "hgvs_p": "p.Gly422Glu",
          "transcript": "XM_017003278.2",
          "protein_id": "XP_016858767.1",
          "transcript_support_level": null,
          "aa_start": 422,
          "aa_end": null,
          "aa_length": 485,
          "cds_start": 1265,
          "cds_end": null,
          "cds_length": 1458,
          "cdna_start": 1275,
          "cdna_end": null,
          "cdna_length": 1641,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NOSTRIN",
          "gene_hgnc_id": 20203,
          "hgvs_c": "c.1202G>A",
          "hgvs_p": "p.Gly401Glu",
          "transcript": "XM_017003279.2",
          "protein_id": "XP_016858768.1",
          "transcript_support_level": null,
          "aa_start": 401,
          "aa_end": null,
          "aa_length": 485,
          "cds_start": 1202,
          "cds_end": null,
          "cds_length": 1458,
          "cdna_start": 1776,
          "cdna_end": null,
          "cdna_length": 2576,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NOSTRIN",
          "gene_hgnc_id": 20203,
          "hgvs_c": "c.1202G>A",
          "hgvs_p": "p.Gly401Glu",
          "transcript": "XM_024452662.2",
          "protein_id": "XP_024308430.1",
          "transcript_support_level": null,
          "aa_start": 401,
          "aa_end": null,
          "aa_length": 485,
          "cds_start": 1202,
          "cds_end": null,
          "cds_length": 1458,
          "cdna_start": 1212,
          "cdna_end": null,
          "cdna_length": 2012,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NOSTRIN",
          "gene_hgnc_id": 20203,
          "hgvs_c": "c.890G>A",
          "hgvs_p": "p.Gly297Glu",
          "transcript": "XM_011510543.3",
          "protein_id": "XP_011508845.1",
          "transcript_support_level": null,
          "aa_start": 297,
          "aa_end": null,
          "aa_length": 381,
          "cds_start": 890,
          "cds_end": null,
          "cds_length": 1146,
          "cdna_start": 897,
          "cdna_end": null,
          "cdna_length": 1697,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "G",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NOSTRIN",
          "gene_hgnc_id": 20203,
          "hgvs_c": "c.719G>A",
          "hgvs_p": "p.Gly240Glu",
          "transcript": "XM_047443189.1",
          "protein_id": "XP_047299145.1",
          "transcript_support_level": null,
          "aa_start": 240,
          "aa_end": null,
          "aa_length": 324,
          "cds_start": 719,
          "cds_end": null,
          "cds_length": 975,
          "cdna_start": 744,
          "cdna_end": null,
          "cdna_length": 1544,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NOSTRIN",
          "gene_hgnc_id": 20203,
          "hgvs_c": "n.1305G>A",
          "hgvs_p": null,
          "transcript": "ENST00000472260.1",
          "protein_id": null,
          "transcript_support_level": 2,
          "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": 1645,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "SPC25",
          "gene_hgnc_id": 24031,
          "hgvs_c": "n.419+12705C>T",
          "hgvs_p": null,
          "transcript": "ENST00000479309.6",
          "protein_id": null,
          "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": 510,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "NOSTRIN",
          "gene_hgnc_id": 20203,
          "hgvs_c": "n.*42G>A",
          "hgvs_p": null,
          "transcript": "ENST00000495202.1",
          "protein_id": null,
          "transcript_support_level": 3,
          "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": 573,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "NOSTRIN",
      "gene_hgnc_id": 20203,
      "dbsnp": "rs759946594",
      "frequency_reference_population": 0.000047097084,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 76,
      "gnomad_exomes_af": 0.0000499451,
      "gnomad_genomes_af": 0.0000197262,
      "gnomad_exomes_ac": 73,
      "gnomad_genomes_ac": 3,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.030629605054855347,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0.019999999552965164,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.037,
      "revel_prediction": "Benign",
      "alphamissense_score": 0.0803,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.6,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 0.124,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0.02,
      "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": -4,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "BP4_Strong",
      "acmg_by_gene": [
        {
          "score": -4,
          "benign_score": 4,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong"
          ],
          "verdict": "Likely_benign",
          "transcript": "NM_001039724.4",
          "gene_symbol": "NOSTRIN",
          "hgnc_id": 20203,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.1265G>A",
          "hgvs_p": "p.Gly422Glu"
        },
        {
          "score": -4,
          "benign_score": 4,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong"
          ],
          "verdict": "Likely_benign",
          "transcript": "ENST00000479309.6",
          "gene_symbol": "SPC25",
          "hgnc_id": 24031,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "n.419+12705C>T",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "not specified",
      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "US:1",
      "phenotype_combined": "not specified",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
    }
  ],
  "message": null
}