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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: 19-29702922-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=29702922&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "19",
      "pos": 29702922,
      "ref": "C",
      "alt": "T",
      "effect": "synonymous_variant",
      "transcript": "ENST00000323670.14",
      "consequences": [
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C19orf12",
          "gene_hgnc_id": 25443,
          "hgvs_c": "c.216G>A",
          "hgvs_p": "p.Pro72Pro",
          "transcript": "NM_031448.6",
          "protein_id": "NP_113636.2",
          "transcript_support_level": null,
          "aa_start": 72,
          "aa_end": null,
          "aa_length": 141,
          "cds_start": 216,
          "cds_end": null,
          "cds_length": 426,
          "cdna_start": 363,
          "cdna_end": null,
          "cdna_length": 4348,
          "mane_select": "ENST00000323670.14",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C19orf12",
          "gene_hgnc_id": 25443,
          "hgvs_c": "c.216G>A",
          "hgvs_p": "p.Pro72Pro",
          "transcript": "ENST00000323670.14",
          "protein_id": "ENSP00000313332.9",
          "transcript_support_level": 2,
          "aa_start": 72,
          "aa_end": null,
          "aa_length": 141,
          "cds_start": 216,
          "cds_end": null,
          "cds_length": 426,
          "cdna_start": 363,
          "cdna_end": null,
          "cdna_length": 4348,
          "mane_select": "NM_031448.6",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C19orf12",
          "gene_hgnc_id": 25443,
          "hgvs_c": "c.216G>A",
          "hgvs_p": "p.Pro72Pro",
          "transcript": "ENST00000592153.5",
          "protein_id": "ENSP00000467117.1",
          "transcript_support_level": 1,
          "aa_start": 72,
          "aa_end": null,
          "aa_length": 107,
          "cds_start": 216,
          "cds_end": null,
          "cds_length": 324,
          "cdna_start": 326,
          "cdna_end": null,
          "cdna_length": 1504,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C19orf12",
          "gene_hgnc_id": 25443,
          "hgvs_c": "c.216G>A",
          "hgvs_p": "p.Pro72Pro",
          "transcript": "ENST00000591243.1",
          "protein_id": "ENSP00000467516.1",
          "transcript_support_level": 1,
          "aa_start": 72,
          "aa_end": null,
          "aa_length": 105,
          "cds_start": 216,
          "cds_end": null,
          "cds_length": 319,
          "cdna_start": 443,
          "cdna_end": null,
          "cdna_length": 546,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C19orf12",
          "gene_hgnc_id": 25443,
          "hgvs_c": "c.24G>A",
          "hgvs_p": "p.Pro8Pro",
          "transcript": "ENST00000392276.1",
          "protein_id": "ENSP00000376102.1",
          "transcript_support_level": 1,
          "aa_start": 8,
          "aa_end": null,
          "aa_length": 77,
          "cds_start": 24,
          "cds_end": null,
          "cds_length": 234,
          "cdna_start": 153,
          "cdna_end": null,
          "cdna_length": 1912,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C19orf12",
          "gene_hgnc_id": 25443,
          "hgvs_c": "c.216G>A",
          "hgvs_p": "p.Pro72Pro",
          "transcript": "NM_001031726.4",
          "protein_id": "NP_001026896.3",
          "transcript_support_level": null,
          "aa_start": 72,
          "aa_end": null,
          "aa_length": 141,
          "cds_start": 216,
          "cds_end": null,
          "cds_length": 426,
          "cdna_start": 380,
          "cdna_end": null,
          "cdna_length": 4265,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C19orf12",
          "gene_hgnc_id": 25443,
          "hgvs_c": "c.216G>A",
          "hgvs_p": "p.Pro72Pro",
          "transcript": "NM_001256047.2",
          "protein_id": "NP_001242976.1",
          "transcript_support_level": null,
          "aa_start": 72,
          "aa_end": null,
          "aa_length": 141,
          "cds_start": 216,
          "cds_end": null,
          "cds_length": 426,
          "cdna_start": 453,
          "cdna_end": null,
          "cdna_length": 4438,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C19orf12",
          "gene_hgnc_id": 25443,
          "hgvs_c": "c.216G>A",
          "hgvs_p": "p.Pro72Pro",
          "transcript": "ENST00000623113.3",
          "protein_id": "ENSP00000485413.2",
          "transcript_support_level": 2,
          "aa_start": 72,
          "aa_end": null,
          "aa_length": 141,
          "cds_start": 216,
          "cds_end": null,
          "cds_length": 426,
          "cdna_start": 380,
          "cdna_end": null,
          "cdna_length": 3726,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C19orf12",
          "gene_hgnc_id": 25443,
          "hgvs_c": "c.216G>A",
          "hgvs_p": "p.Pro72Pro",
          "transcript": "ENST00000614091.5",
          "protein_id": "ENSP00000482097.2",
          "transcript_support_level": 4,
          "aa_start": 72,
          "aa_end": null,
          "aa_length": 115,
          "cds_start": 216,
          "cds_end": null,
          "cds_length": 349,
          "cdna_start": 453,
          "cdna_end": null,
          "cdna_length": 586,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C19orf12",
          "gene_hgnc_id": 25443,
          "hgvs_c": "c.216G>A",
          "hgvs_p": "p.Pro72Pro",
          "transcript": "NM_001256046.3",
          "protein_id": "NP_001242975.1",
          "transcript_support_level": null,
          "aa_start": 72,
          "aa_end": null,
          "aa_length": 107,
          "cds_start": 216,
          "cds_end": null,
          "cds_length": 324,
          "cdna_start": 363,
          "cdna_end": null,
          "cdna_length": 4293,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C19orf12",
          "gene_hgnc_id": 25443,
          "hgvs_c": "c.24G>A",
          "hgvs_p": "p.Pro8Pro",
          "transcript": "NM_001282929.1",
          "protein_id": "NP_001269858.1",
          "transcript_support_level": null,
          "aa_start": 8,
          "aa_end": null,
          "aa_length": 77,
          "cds_start": 24,
          "cds_end": null,
          "cds_length": 234,
          "cdna_start": 206,
          "cdna_end": null,
          "cdna_length": 4242,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C19orf12",
          "gene_hgnc_id": 25443,
          "hgvs_c": "c.24G>A",
          "hgvs_p": "p.Pro8Pro",
          "transcript": "NM_001282930.3",
          "protein_id": "NP_001269859.1",
          "transcript_support_level": null,
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          "aa_length": 77,
          "cds_start": 24,
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          "cdna_start": 193,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
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          "gene_symbol": "C19orf12",
          "gene_hgnc_id": 25443,
          "hgvs_c": "c.24G>A",
          "hgvs_p": "p.Pro8Pro",
          "transcript": "NM_001282931.3",
          "protein_id": "NP_001269860.1",
          "transcript_support_level": null,
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          "cds_start": 24,
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          "cdna_start": 484,
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          "cdna_length": 4469,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C19orf12",
          "gene_hgnc_id": 25443,
          "hgvs_c": "c.24G>A",
          "hgvs_p": "p.Pro8Pro",
          "transcript": "ENST00000392275.1",
          "protein_id": "ENSP00000507573.1",
          "transcript_support_level": 2,
          "aa_start": 8,
          "aa_end": null,
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          "cds_start": 24,
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          "cds_length": 234,
          "cdna_start": 607,
          "cdna_end": null,
          "cdna_length": 1188,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
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          "gene_symbol": "C19orf12",
          "gene_hgnc_id": 25443,
          "hgvs_c": "c.378G>A",
          "hgvs_p": "p.Pro126Pro",
          "transcript": "XM_024451734.2",
          "protein_id": "XP_024307502.1",
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          "cds_start": 378,
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          "cdna_start": 6175,
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          "cdna_length": 10211,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
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          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C19orf12",
          "gene_hgnc_id": 25443,
          "hgvs_c": "c.378G>A",
          "hgvs_p": "p.Pro126Pro",
          "transcript": "XM_047439496.1",
          "protein_id": "XP_047295452.1",
          "transcript_support_level": null,
          "aa_start": 126,
          "aa_end": null,
          "aa_length": 195,
          "cds_start": 378,
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          "cds_length": 588,
          "cdna_start": 6055,
          "cdna_end": null,
          "cdna_length": 10091,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C19orf12",
          "gene_hgnc_id": 25443,
          "hgvs_c": "c.216G>A",
          "hgvs_p": "p.Pro72Pro",
          "transcript": "XM_024451735.2",
          "protein_id": "XP_024307503.1",
          "transcript_support_level": null,
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          "aa_end": null,
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          "cds_start": 216,
          "cds_end": null,
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          "cdna_start": 2080,
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          "cdna_length": 6116,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "P",
          "aa_alt": "P",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 2,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C19orf12",
          "gene_hgnc_id": 25443,
          "hgvs_c": "c.24G>A",
          "hgvs_p": "p.Pro8Pro",
          "transcript": "XM_047439497.1",
          "protein_id": "XP_047295453.1",
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          "cds_length": 234,
          "cdna_start": 3423,
          "cdna_end": null,
          "cdna_length": 7459,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C19orf12",
          "gene_hgnc_id": 25443,
          "hgvs_c": "n.*130G>A",
          "hgvs_p": null,
          "transcript": "ENST00000342680.5",
          "protein_id": "ENSP00000345497.5",
          "transcript_support_level": 5,
          "aa_start": null,
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          "cds_start": -4,
          "cds_end": null,
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          "cdna_start": null,
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          "cdna_length": 578,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "C19orf12",
          "gene_hgnc_id": 25443,
          "hgvs_c": "n.*130G>A",
          "hgvs_p": null,
          "transcript": "ENST00000342680.5",
          "protein_id": "ENSP00000345497.5",
          "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": 578,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "C19orf12",
      "gene_hgnc_id": 25443,
      "dbsnp": "rs202054484",
      "frequency_reference_population": 0.0001437248,
      "hom_count_reference_population": 1,
      "allele_count_reference_population": 232,
      "gnomad_exomes_af": 0.000150491,
      "gnomad_genomes_af": 0.0000787846,
      "gnomad_exomes_ac": 220,
      "gnomad_genomes_ac": 12,
      "gnomad_exomes_homalt": 1,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.8299999833106995,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.83,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -5.36,
      "phylop100way_prediction": "Benign",
      "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": -17,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1",
      "acmg_by_gene": [
        {
          "score": -17,
          "benign_score": 17,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BP6_Very_Strong",
            "BP7",
            "BS1"
          ],
          "verdict": "Benign",
          "transcript": "ENST00000323670.14",
          "gene_symbol": "C19orf12",
          "hgnc_id": 25443,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "AR,SD,AD",
          "hgvs_c": "c.216G>A",
          "hgvs_p": "p.Pro72Pro"
        }
      ],
      "clinvar_disease": "Hereditary spastic paraplegia 43,Neurodegeneration with brain iron accumulation 4,not provided",
      "clinvar_classification": "Benign/Likely benign",
      "clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
      "clinvar_submissions_summary": "LB:2 B:1",
      "phenotype_combined": "Hereditary spastic paraplegia 43|Neurodegeneration with brain iron accumulation 4|not provided",
      "pathogenicity_classification_combined": "Benign/Likely benign",
      "custom_annotations": null
    }
  ],
  "message": null
}