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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: 17-68542796-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=68542796&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 68542796,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000592554.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM20A",
"gene_hgnc_id": 23015,
"hgvs_c": "c.826C>T",
"hgvs_p": "p.Arg276*",
"transcript": "NM_017565.4",
"protein_id": "NP_060035.2",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 541,
"cds_start": 826,
"cds_end": null,
"cds_length": 1626,
"cdna_start": 1527,
"cdna_end": null,
"cdna_length": 4688,
"mane_select": "ENST00000592554.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM20A",
"gene_hgnc_id": 23015,
"hgvs_c": "c.826C>T",
"hgvs_p": "p.Arg276*",
"transcript": "ENST00000592554.2",
"protein_id": "ENSP00000468308.1",
"transcript_support_level": 1,
"aa_start": 276,
"aa_end": null,
"aa_length": 541,
"cds_start": 826,
"cds_end": null,
"cds_length": 1626,
"cdna_start": 1527,
"cdna_end": null,
"cdna_length": 4688,
"mane_select": "NM_017565.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM20A",
"gene_hgnc_id": 23015,
"hgvs_c": "n.479C>T",
"hgvs_p": null,
"transcript": "ENST00000226094.9",
"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": 3668,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM20A",
"gene_hgnc_id": 23015,
"hgvs_c": "c.412C>T",
"hgvs_p": "p.Arg138*",
"transcript": "NM_001243746.2",
"protein_id": "NP_001230675.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 403,
"cds_start": 412,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 1753,
"cdna_end": null,
"cdna_length": 4914,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM20A",
"gene_hgnc_id": 23015,
"hgvs_c": "c.412C>T",
"hgvs_p": "p.Arg138*",
"transcript": "XM_006721959.4",
"protein_id": "XP_006722022.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 403,
"cds_start": 412,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 520,
"cdna_end": null,
"cdna_length": 3681,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM20A",
"gene_hgnc_id": 23015,
"hgvs_c": "c.826C>T",
"hgvs_p": "p.Arg276*",
"transcript": "XM_017024781.3",
"protein_id": "XP_016880270.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 389,
"cds_start": 826,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 1527,
"cdna_end": null,
"cdna_length": 2416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM20A",
"gene_hgnc_id": 23015,
"hgvs_c": "c.826C>T",
"hgvs_p": "p.Arg276*",
"transcript": "XM_047436319.1",
"protein_id": "XP_047292275.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 386,
"cds_start": 826,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 1527,
"cdna_end": null,
"cdna_length": 1945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM20A",
"gene_hgnc_id": 23015,
"hgvs_c": "c.826C>T",
"hgvs_p": "p.Arg276*",
"transcript": "XM_011524918.4",
"protein_id": "XP_011523220.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 371,
"cds_start": 826,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 1527,
"cdna_end": null,
"cdna_length": 2484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM20A",
"gene_hgnc_id": 23015,
"hgvs_c": "n.*599C>T",
"hgvs_p": null,
"transcript": "ENST00000590074.5",
"protein_id": "ENSP00000464910.1",
"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": 1642,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM20A",
"gene_hgnc_id": 23015,
"hgvs_c": "n.468C>T",
"hgvs_p": null,
"transcript": "ENST00000592847.1",
"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": 824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM20A",
"gene_hgnc_id": 23015,
"hgvs_c": "n.516C>T",
"hgvs_p": null,
"transcript": "NR_027751.2",
"protein_id": null,
"transcript_support_level": null,
"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": 3702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM20A",
"gene_hgnc_id": 23015,
"hgvs_c": "n.1527C>T",
"hgvs_p": null,
"transcript": "XR_001752543.3",
"protein_id": null,
"transcript_support_level": null,
"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": 2143,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM20A",
"gene_hgnc_id": 23015,
"hgvs_c": "n.1527C>T",
"hgvs_p": null,
"transcript": "XR_002958041.2",
"protein_id": null,
"transcript_support_level": null,
"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": 2240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM20A",
"gene_hgnc_id": 23015,
"hgvs_c": "n.1523C>T",
"hgvs_p": null,
"transcript": "XR_429905.3",
"protein_id": null,
"transcript_support_level": null,
"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": 1726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM20A",
"gene_hgnc_id": 23015,
"hgvs_c": "n.1527C>T",
"hgvs_p": null,
"transcript": "XR_934487.4",
"protein_id": null,
"transcript_support_level": null,
"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": 2582,
"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": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM20A",
"gene_hgnc_id": 23015,
"hgvs_c": "n.*599C>T",
"hgvs_p": null,
"transcript": "ENST00000590074.5",
"protein_id": "ENSP00000464910.1",
"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": 1642,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.974-8288G>A",
"hgvs_p": null,
"transcript": "NM_001276290.1",
"protein_id": "NP_001263219.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 337,
"cds_start": -4,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1212,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.974-8288G>A",
"hgvs_p": null,
"transcript": "ENST00000585981.6",
"protein_id": "ENSP00000467311.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 337,
"cds_start": -4,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1528,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.974-8288G>A",
"hgvs_p": null,
"transcript": "ENST00000588188.7",
"protein_id": "ENSP00000468106.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 337,
"cds_start": -4,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1334,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PRKAR1A",
"gene_hgnc_id": 9388,
"hgvs_c": "c.974-8288G>A",
"hgvs_p": null,
"transcript": "ENST00000711037.1",
"protein_id": "ENSP00000518555.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 337,
"cds_start": -4,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1301,
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FAM20A",
"gene_hgnc_id": 23015,
"hgvs_c": "n.41+833C>T",
"hgvs_p": null,
"transcript": "ENST00000590873.5",
"protein_id": "ENSP00000467884.1",
"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": 804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FAM20A",
"gene_hgnc_id": 23015,
"dbsnp": "rs387907215",
"frequency_reference_population": 0.000017972081,
"hom_count_reference_population": 0,
"allele_count_reference_population": 29,
"gnomad_exomes_af": 0.0000184745,
"gnomad_genomes_af": 0.0000131456,
"gnomad_exomes_ac": 27,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5600000023841858,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.20999999344348907,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.56,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 3.894,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.21,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "ENST00000592554.2",
"gene_symbol": "FAM20A",
"hgnc_id": 23015,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.826C>T",
"hgvs_p": "p.Arg276*"
},
{
"score": 1,
"benign_score": 5,
"pathogenic_score": 6,
"criteria": [
"PP3_Strong",
"PP5_Moderate",
"BS1_Supporting",
"BS2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001276290.1",
"gene_symbol": "PRKAR1A",
"hgnc_id": 9388,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.974-8288G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Amelogenesis imperfecta type 1G",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Amelogenesis imperfecta type 1G",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}