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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: 19-49835757-CAG-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=49835757&ref=CAG&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 49835757,
"ref": "CAG",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "NM_001378355.1",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED25",
"gene_hgnc_id": 28845,
"hgvs_c": "c.1778_1779delAG",
"hgvs_p": "p.Gln593fs",
"transcript": "NM_030973.4",
"protein_id": "NP_112235.2",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 747,
"cds_start": 1778,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000312865.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030973.4"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED25",
"gene_hgnc_id": 28845,
"hgvs_c": "c.1778_1779delAG",
"hgvs_p": "p.Gln593fs",
"transcript": "ENST00000312865.10",
"protein_id": "ENSP00000326767.5",
"transcript_support_level": 1,
"aa_start": 593,
"aa_end": null,
"aa_length": 747,
"cds_start": 1778,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_030973.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000312865.10"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED25",
"gene_hgnc_id": 28845,
"hgvs_c": "c.1139_1140delAG",
"hgvs_p": "p.Gln380fs",
"transcript": "ENST00000538643.5",
"protein_id": "ENSP00000437496.1",
"transcript_support_level": 1,
"aa_start": 380,
"aa_end": null,
"aa_length": 534,
"cds_start": 1139,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000538643.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "MED25",
"gene_hgnc_id": 28845,
"hgvs_c": "c.689-1133_689-1132delAG",
"hgvs_p": null,
"transcript": "ENST00000595185.5",
"protein_id": "ENSP00000470027.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 252,
"cds_start": null,
"cds_end": null,
"cds_length": 760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000595185.5"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED25",
"gene_hgnc_id": 28845,
"hgvs_c": "n.2398_2399delAG",
"hgvs_p": null,
"transcript": "ENST00000594998.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000594998.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED25",
"gene_hgnc_id": 28845,
"hgvs_c": "c.1970_1971delAG",
"hgvs_p": "p.Gln657fs",
"transcript": "ENST00000929730.1",
"protein_id": "ENSP00000599789.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 811,
"cds_start": 1970,
"cds_end": null,
"cds_length": 2436,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929730.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED25",
"gene_hgnc_id": 28845,
"hgvs_c": "c.1778_1779delAG",
"hgvs_p": "p.Gln593fs",
"transcript": "NM_001378355.1",
"protein_id": "NP_001365284.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 796,
"cds_start": 1778,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378355.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED25",
"gene_hgnc_id": 28845,
"hgvs_c": "c.1778_1779delAG",
"hgvs_p": "p.Gln593fs",
"transcript": "ENST00000593767.3",
"protein_id": "ENSP00000470692.3",
"transcript_support_level": 3,
"aa_start": 593,
"aa_end": null,
"aa_length": 796,
"cds_start": 1778,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000593767.3"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED25",
"gene_hgnc_id": 28845,
"hgvs_c": "c.1826_1827delAG",
"hgvs_p": "p.Gln609fs",
"transcript": "ENST00000929728.1",
"protein_id": "ENSP00000599787.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 763,
"cds_start": 1826,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929728.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED25",
"gene_hgnc_id": 28845,
"hgvs_c": "c.1808_1809delAG",
"hgvs_p": "p.Gln603fs",
"transcript": "ENST00000861903.1",
"protein_id": "ENSP00000531962.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 757,
"cds_start": 1808,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861903.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED25",
"gene_hgnc_id": 28845,
"hgvs_c": "c.1778_1779delAG",
"hgvs_p": "p.Gln593fs",
"transcript": "ENST00000861902.1",
"protein_id": "ENSP00000531961.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 745,
"cds_start": 1778,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861902.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED25",
"gene_hgnc_id": 28845,
"hgvs_c": "c.1772_1773delAG",
"hgvs_p": "p.Gln591fs",
"transcript": "ENST00000929729.1",
"protein_id": "ENSP00000599788.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 745,
"cds_start": 1772,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929729.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED25",
"gene_hgnc_id": 28845,
"hgvs_c": "c.1742_1743delAG",
"hgvs_p": "p.Gln581fs",
"transcript": "ENST00000861899.1",
"protein_id": "ENSP00000531958.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 735,
"cds_start": 1742,
"cds_end": null,
"cds_length": 2208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861899.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED25",
"gene_hgnc_id": 28845,
"hgvs_c": "c.1718_1719delAG",
"hgvs_p": "p.Gln573fs",
"transcript": "ENST00000861900.1",
"protein_id": "ENSP00000531959.1",
"transcript_support_level": null,
"aa_start": 573,
"aa_end": null,
"aa_length": 727,
"cds_start": 1718,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861900.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED25",
"gene_hgnc_id": 28845,
"hgvs_c": "c.1706_1707delAG",
"hgvs_p": "p.Gln569fs",
"transcript": "ENST00000861904.1",
"protein_id": "ENSP00000531963.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 723,
"cds_start": 1706,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861904.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED25",
"gene_hgnc_id": 28845,
"hgvs_c": "c.1688_1689delAG",
"hgvs_p": "p.Gln563fs",
"transcript": "ENST00000861901.1",
"protein_id": "ENSP00000531960.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 717,
"cds_start": 1688,
"cds_end": null,
"cds_length": 2154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861901.1"
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED25",
"gene_hgnc_id": 28845,
"hgvs_c": "c.1679_1680delAG",
"hgvs_p": "p.Gln560fs",
"transcript": "ENST00000861905.1",
"protein_id": "ENSP00000531964.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 714,
"cds_start": 1679,
"cds_end": null,
"cds_length": 2145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861905.1"
}
],
"gene_symbol": "MED25",
"gene_hgnc_id": 28845,
"dbsnp": "rs763039409",
"frequency_reference_population": 0.000014278584,
"hom_count_reference_population": 0,
"allele_count_reference_population": 23,
"gnomad_exomes_af": 0.000015084,
"gnomad_genomes_af": 0.00000656582,
"gnomad_exomes_ac": 22,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.05999999865889549,
"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": 2.159,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.06,
"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": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PVS1",
"PM2"
],
"verdict": "Pathogenic",
"transcript": "NM_001378355.1",
"gene_symbol": "MED25",
"hgnc_id": 28845,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1778_1779delAG",
"hgvs_p": "p.Gln593fs"
}
],
"clinvar_disease": "Charcot-Marie-Tooth disease type 2,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Charcot-Marie-Tooth disease type 2|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}