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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: 1-150829796-AT-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=150829796&ref=AT&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "1",
      "pos": 150829796,
      "ref": "AT",
      "alt": "A",
      "effect": "intron_variant",
      "transcript": "ENST00000358595.10",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "ARNT",
          "gene_hgnc_id": 700,
          "hgvs_c": "c.1032+107delA",
          "hgvs_p": null,
          "transcript": "NM_001668.4",
          "protein_id": "NP_001659.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 789,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2370,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4710,
          "mane_select": "ENST00000358595.10",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "ARNT",
          "gene_hgnc_id": 700,
          "hgvs_c": "c.1032+107delA",
          "hgvs_p": null,
          "transcript": "ENST00000358595.10",
          "protein_id": "ENSP00000351407.5",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 789,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2370,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4710,
          "mane_select": "NM_001668.4",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "ARNT",
          "gene_hgnc_id": 700,
          "hgvs_c": "c.1032+107delA",
          "hgvs_p": null,
          "transcript": "ENST00000354396.6",
          "protein_id": "ENSP00000346372.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 787,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2364,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3538,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": 12,
          "intron_rank_end": null,
          "gene_symbol": "ARNT",
          "gene_hgnc_id": 700,
          "hgvs_c": "c.990+107delA",
          "hgvs_p": null,
          "transcript": "ENST00000515192.5",
          "protein_id": "ENSP00000423851.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 775,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2328,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2892,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "ARNT",
          "gene_hgnc_id": 700,
          "hgvs_c": "n.1032+107delA",
          "hgvs_p": null,
          "transcript": "ENST00000471844.6",
          "protein_id": "ENSP00000425899.1",
          "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": 3703,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "ARNT",
          "gene_hgnc_id": 700,
          "hgvs_c": "c.1029+107delA",
          "hgvs_p": null,
          "transcript": "NM_001350225.2",
          "protein_id": "NP_001337154.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 788,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2367,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4744,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "ARNT",
          "gene_hgnc_id": 700,
          "hgvs_c": "c.1032+107delA",
          "hgvs_p": null,
          "transcript": "NM_001286036.2",
          "protein_id": "NP_001272965.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 787,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2364,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4704,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "ARNT",
          "gene_hgnc_id": 700,
          "hgvs_c": "c.1026+107delA",
          "hgvs_p": null,
          "transcript": "NM_001350226.2",
          "protein_id": "NP_001337155.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 787,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2364,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4741,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": 12,
          "intron_rank_end": null,
          "gene_symbol": "ARNT",
          "gene_hgnc_id": 700,
          "hgvs_c": "c.1005+107delA",
          "hgvs_p": null,
          "transcript": "NM_001350224.2",
          "protein_id": "NP_001337153.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 780,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2343,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4745,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": 12,
          "intron_rank_end": null,
          "gene_symbol": "ARNT",
          "gene_hgnc_id": 700,
          "hgvs_c": "c.990+107delA",
          "hgvs_p": null,
          "transcript": "NM_001286035.2",
          "protein_id": "NP_001272964.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 775,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2328,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4751,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "ARNT",
          "gene_hgnc_id": 700,
          "hgvs_c": "c.987+107delA",
          "hgvs_p": null,
          "transcript": "NM_178427.3",
          "protein_id": "NP_848514.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 774,
          "cds_start": -4,
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          "cds_length": 2325,
          "cdna_start": null,
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          "cdna_length": 4665,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
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          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 21,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "ARNT",
          "gene_hgnc_id": 700,
          "hgvs_c": "c.987+107delA",
          "hgvs_p": null,
          "transcript": "ENST00000505755.5",
          "protein_id": "ENSP00000427571.1",
          "transcript_support_level": 2,
          "aa_start": null,
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          "aa_length": 774,
          "cds_start": -4,
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          "cdna_start": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          "exon_rank": null,
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          "exon_count": 21,
          "intron_rank": 10,
          "intron_rank_end": null,
          "gene_symbol": "ARNT",
          "gene_hgnc_id": 700,
          "hgvs_c": "c.987+107delA",
          "hgvs_p": null,
          "transcript": "NM_001197325.2",
          "protein_id": "NP_001184254.1",
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          "cds_start": -4,
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          "cdna_start": null,
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        {
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          ],
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          "gene_symbol": "ARNT",
          "gene_hgnc_id": 700,
          "hgvs_c": "n.479+107delA",
          "hgvs_p": null,
          "transcript": "ENST00000478972.2",
          "protein_id": null,
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          "mane_select": null,
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        },
        {
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          ],
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          "exon_count": 22,
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          "intron_rank_end": null,
          "gene_symbol": "ARNT",
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          "hgvs_c": "c.1032+107delA",
          "hgvs_p": null,
          "transcript": "XM_005245151.3",
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          "gene_symbol": "ARNT",
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          "hgvs_c": "c.1029+107delA",
          "hgvs_p": null,
          "transcript": "XM_011509543.4",
          "protein_id": "XP_011507845.1",
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        {
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          "canonical": false,
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          "strand": false,
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          "intron_rank": 12,
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          "gene_symbol": "ARNT",
          "gene_hgnc_id": 700,
          "hgvs_c": "c.1026+107delA",
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          "transcript": "XM_047420709.1",
          "protein_id": "XP_047276665.1",
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        {
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 22,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "ARNT",
          "gene_hgnc_id": 700,
          "hgvs_c": "c.1017+107delA",
          "hgvs_p": null,
          "transcript": "XM_005245153.2",
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          "intron_rank": 12,
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          "hgvs_c": "c.1005+107delA",
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          "transcript": "XM_017001288.3",
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        {
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          "canonical": false,
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          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 23,
          "intron_rank": 12,
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          "gene_symbol": "ARNT",
          "gene_hgnc_id": 700,
          "hgvs_c": "c.990+107delA",
          "hgvs_p": null,
          "transcript": "XM_017001289.2",
          "protein_id": "XP_016856778.1",
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          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
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            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": 11,
          "intron_rank_end": null,
          "gene_symbol": "ARNT",
          "gene_hgnc_id": 700,
          "hgvs_c": "c.960+107delA",
          "hgvs_p": null,
          "transcript": "XM_017001293.2",
          "protein_id": "XP_016856782.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 727,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2184,
          "cdna_start": null,
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          "cdna_length": 4586,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "downstream_gene_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ARNT",
          "gene_hgnc_id": 700,
          "hgvs_c": "n.*112delA",
          "hgvs_p": null,
          "transcript": "ENST00000512296.5",
          "protein_id": null,
          "transcript_support_level": 4,
          "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": 550,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "ARNT",
      "gene_hgnc_id": 700,
      "dbsnp": "rs3215133",
      "frequency_reference_population": 0.09532948,
      "hom_count_reference_population": 6760,
      "allele_count_reference_population": 115395,
      "gnomad_exomes_af": 0.0973648,
      "gnomad_genomes_af": 0.081186,
      "gnomad_exomes_ac": 103032,
      "gnomad_genomes_ac": 12363,
      "gnomad_exomes_homalt": 6010,
      "gnomad_genomes_homalt": 750,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": null,
      "computational_prediction_selected": null,
      "computational_source_selected": null,
      "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": null,
      "bayesdelnoaf_prediction": null,
      "phylop100way_score": -1.233,
      "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": -8,
      "acmg_classification": "Benign",
      "acmg_criteria": "BA1",
      "acmg_by_gene": [
        {
          "score": -8,
          "benign_score": 8,
          "pathogenic_score": 0,
          "criteria": [
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "ENST00000358595.10",
          "gene_symbol": "ARNT",
          "hgnc_id": 700,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.1032+107delA",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}