← Back to variant description
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: 19-38403217-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=38403217&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 38403217,
"ref": "G",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_174905.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM98C",
"gene_hgnc_id": 27119,
"hgvs_c": "c.64G>C",
"hgvs_p": "p.Gly22Arg",
"transcript": "NM_174905.4",
"protein_id": "NP_777565.3",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 349,
"cds_start": 64,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000252530.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_174905.4"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM98C",
"gene_hgnc_id": 27119,
"hgvs_c": "c.64G>C",
"hgvs_p": "p.Gly22Arg",
"transcript": "ENST00000252530.10",
"protein_id": "ENSP00000252530.4",
"transcript_support_level": 1,
"aa_start": 22,
"aa_end": null,
"aa_length": 349,
"cds_start": 64,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_174905.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000252530.10"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM98C",
"gene_hgnc_id": 27119,
"hgvs_c": "c.64G>C",
"hgvs_p": "p.Gly22Arg",
"transcript": "ENST00000343358.11",
"protein_id": "ENSP00000340348.6",
"transcript_support_level": 1,
"aa_start": 22,
"aa_end": null,
"aa_length": 267,
"cds_start": 64,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000343358.11"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM98C",
"gene_hgnc_id": 27119,
"hgvs_c": "c.64G>C",
"hgvs_p": "p.Gly22Arg",
"transcript": "ENST00000588262.5",
"protein_id": "ENSP00000467974.1",
"transcript_support_level": 1,
"aa_start": 22,
"aa_end": null,
"aa_length": 186,
"cds_start": 64,
"cds_end": null,
"cds_length": 561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000588262.5"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM98C",
"gene_hgnc_id": 27119,
"hgvs_c": "c.47G>C",
"hgvs_p": "p.Gly16Ala",
"transcript": "ENST00000589408.1",
"protein_id": "ENSP00000467878.1",
"transcript_support_level": 2,
"aa_start": 16,
"aa_end": null,
"aa_length": 179,
"cds_start": 47,
"cds_end": null,
"cds_length": 540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589408.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM98C",
"gene_hgnc_id": 27119,
"hgvs_c": "c.64G>C",
"hgvs_p": "p.Gly22Arg",
"transcript": "ENST00000909362.1",
"protein_id": "ENSP00000579421.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 344,
"cds_start": 64,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909362.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM98C",
"gene_hgnc_id": 27119,
"hgvs_c": "c.64G>C",
"hgvs_p": "p.Gly22Arg",
"transcript": "ENST00000909365.1",
"protein_id": "ENSP00000579424.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 323,
"cds_start": 64,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909365.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM98C",
"gene_hgnc_id": 27119,
"hgvs_c": "c.64G>C",
"hgvs_p": "p.Gly22Arg",
"transcript": "ENST00000909366.1",
"protein_id": "ENSP00000579425.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 310,
"cds_start": 64,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909366.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM98C",
"gene_hgnc_id": 27119,
"hgvs_c": "c.64G>C",
"hgvs_p": "p.Gly22Arg",
"transcript": "ENST00000909364.1",
"protein_id": "ENSP00000579423.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 293,
"cds_start": 64,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909364.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM98C",
"gene_hgnc_id": 27119,
"hgvs_c": "c.64G>C",
"hgvs_p": "p.Gly22Arg",
"transcript": "ENST00000909367.1",
"protein_id": "ENSP00000579426.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 288,
"cds_start": 64,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909367.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM98C",
"gene_hgnc_id": 27119,
"hgvs_c": "c.64G>C",
"hgvs_p": "p.Gly22Arg",
"transcript": "ENST00000909363.1",
"protein_id": "ENSP00000579422.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 284,
"cds_start": 64,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909363.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM98C",
"gene_hgnc_id": 27119,
"hgvs_c": "c.64G>C",
"hgvs_p": "p.Gly22Arg",
"transcript": "NM_001351675.1",
"protein_id": "NP_001338604.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 267,
"cds_start": 64,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351675.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM98C",
"gene_hgnc_id": 27119,
"hgvs_c": "c.64G>C",
"hgvs_p": "p.Gly22Arg",
"transcript": "XM_017026354.2",
"protein_id": "XP_016881843.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 195,
"cds_start": 64,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026354.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM98C",
"gene_hgnc_id": 27119,
"hgvs_c": "n.64G>C",
"hgvs_p": null,
"transcript": "ENST00000588348.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000588348.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM98C",
"gene_hgnc_id": 27119,
"hgvs_c": "n.30G>C",
"hgvs_p": null,
"transcript": "ENST00000589029.1",
"protein_id": "ENSP00000468553.1",
"transcript_support_level": 3,
"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": "nonsense_mediated_decay",
"feature": "ENST00000589029.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM98C",
"gene_hgnc_id": 27119,
"hgvs_c": "n.-121G>C",
"hgvs_p": null,
"transcript": "ENST00000586372.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000586372.5"
}
],
"gene_symbol": "FAM98C",
"gene_hgnc_id": 27119,
"dbsnp": "rs1465252573",
"frequency_reference_population": 0.000017320683,
"hom_count_reference_population": 0,
"allele_count_reference_population": 27,
"gnomad_exomes_af": 0.00001564,
"gnomad_genomes_af": 0.0000328558,
"gnomad_exomes_ac": 22,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.921890914440155,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.8700000047683716,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.377,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5914,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.15,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.461,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.12,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.957315149751584,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_174905.4",
"gene_symbol": "FAM98C",
"hgnc_id": 27119,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.64G>C",
"hgvs_p": "p.Gly22Arg"
}
],
"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
}