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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: 21-14485986-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=14485986&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 14485986,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001395858.1",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMSN1",
"gene_hgnc_id": 10528,
"hgvs_c": "c.1048G>A",
"hgvs_p": "p.Gly350Ser",
"transcript": "NM_022136.5",
"protein_id": "NP_071419.3",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 373,
"cds_start": 1048,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000400566.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022136.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMSN1",
"gene_hgnc_id": 10528,
"hgvs_c": "c.1048G>A",
"hgvs_p": "p.Gly350Ser",
"transcript": "ENST00000400566.6",
"protein_id": "ENSP00000383411.2",
"transcript_support_level": 1,
"aa_start": 350,
"aa_end": null,
"aa_length": 373,
"cds_start": 1048,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022136.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400566.6"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMSN1",
"gene_hgnc_id": 10528,
"hgvs_c": "c.1252G>A",
"hgvs_p": "p.Gly418Ser",
"transcript": "ENST00000285670.7",
"protein_id": "ENSP00000285670.2",
"transcript_support_level": 1,
"aa_start": 418,
"aa_end": null,
"aa_length": 441,
"cds_start": 1252,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000285670.7"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMSN1",
"gene_hgnc_id": 10528,
"hgvs_c": "c.841G>A",
"hgvs_p": "p.Gly281Ser",
"transcript": "ENST00000619120.4",
"protein_id": "ENSP00000480850.1",
"transcript_support_level": 1,
"aa_start": 281,
"aa_end": null,
"aa_length": 304,
"cds_start": 841,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000619120.4"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMSN1",
"gene_hgnc_id": 10528,
"hgvs_c": "c.544G>A",
"hgvs_p": "p.Gly182Ser",
"transcript": "ENST00000400564.5",
"protein_id": "ENSP00000383409.1",
"transcript_support_level": 1,
"aa_start": 182,
"aa_end": null,
"aa_length": 205,
"cds_start": 544,
"cds_end": null,
"cds_length": 618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400564.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMSN1",
"gene_hgnc_id": 10528,
"hgvs_c": "c.2032G>A",
"hgvs_p": "p.Gly678Ser",
"transcript": "NM_001395858.1",
"protein_id": "NP_001382787.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 701,
"cds_start": 2032,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395858.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMSN1",
"gene_hgnc_id": 10528,
"hgvs_c": "c.1936G>A",
"hgvs_p": "p.Gly646Ser",
"transcript": "NM_001395857.1",
"protein_id": "NP_001382786.1",
"transcript_support_level": null,
"aa_start": 646,
"aa_end": null,
"aa_length": 669,
"cds_start": 1936,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395857.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMSN1",
"gene_hgnc_id": 10528,
"hgvs_c": "c.1936G>A",
"hgvs_p": "p.Gly646Ser",
"transcript": "ENST00000647101.1",
"protein_id": "ENSP00000493867.1",
"transcript_support_level": null,
"aa_start": 646,
"aa_end": null,
"aa_length": 669,
"cds_start": 1936,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647101.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMSN1",
"gene_hgnc_id": 10528,
"hgvs_c": "c.1252G>A",
"hgvs_p": "p.Gly418Ser",
"transcript": "NM_001256370.2",
"protein_id": "NP_001243299.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 441,
"cds_start": 1252,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256370.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMSN1",
"gene_hgnc_id": 10528,
"hgvs_c": "c.1081G>A",
"hgvs_p": "p.Gly361Ser",
"transcript": "ENST00000959353.1",
"protein_id": "ENSP00000629412.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 384,
"cds_start": 1081,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959353.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMSN1",
"gene_hgnc_id": 10528,
"hgvs_c": "c.898G>A",
"hgvs_p": "p.Gly300Ser",
"transcript": "ENST00000871911.1",
"protein_id": "ENSP00000541970.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 323,
"cds_start": 898,
"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": "ENST00000871911.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMSN1",
"gene_hgnc_id": 10528,
"hgvs_c": "c.841G>A",
"hgvs_p": "p.Gly281Ser",
"transcript": "NM_001286523.2",
"protein_id": "NP_001273452.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 304,
"cds_start": 841,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286523.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMSN1",
"gene_hgnc_id": 10528,
"hgvs_c": "c.994G>A",
"hgvs_p": "p.Gly332Ser",
"transcript": "XM_011529684.3",
"protein_id": "XP_011527986.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 355,
"cds_start": 994,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529684.3"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMSN1",
"gene_hgnc_id": 10528,
"hgvs_c": "c.898G>A",
"hgvs_p": "p.Gly300Ser",
"transcript": "XM_011529685.1",
"protein_id": "XP_011527987.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 323,
"cds_start": 898,
"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": "XM_011529685.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMSN1",
"gene_hgnc_id": 10528,
"hgvs_c": "c.844G>A",
"hgvs_p": "p.Gly282Ser",
"transcript": "XM_047440942.1",
"protein_id": "XP_047296898.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 305,
"cds_start": 844,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440942.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMSN1",
"gene_hgnc_id": 10528,
"hgvs_c": "n.1427G>A",
"hgvs_p": null,
"transcript": "ENST00000644288.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000644288.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC124905053",
"gene_hgnc_id": null,
"hgvs_c": "n.339+8319C>T",
"hgvs_p": null,
"transcript": "XR_007067925.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "XR_007067925.1"
}
],
"gene_symbol": "SAMSN1",
"gene_hgnc_id": 10528,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.12503254413604736,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.064,
"revel_prediction": "Benign",
"alphamissense_score": 0.0859,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.115,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001395858.1",
"gene_symbol": "SAMSN1",
"hgnc_id": 10528,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2032G>A",
"hgvs_p": "p.Gly678Ser"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "XR_007067925.1",
"gene_symbol": "LOC124905053",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.339+8319C>T",
"hgvs_p": null
}
],
"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
}