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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: 2-17764976-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=17764976&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 17764976,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000381254.7",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEN1",
"gene_hgnc_id": 26881,
"hgvs_c": "c.428A>G",
"hgvs_p": "p.Asn143Ser",
"transcript": "NM_001130009.3",
"protein_id": "NP_001123481.3",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 908,
"cds_start": 428,
"cds_end": null,
"cds_length": 2727,
"cdna_start": 651,
"cdna_end": null,
"cdna_length": 9957,
"mane_select": "ENST00000381254.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEN1",
"gene_hgnc_id": 26881,
"hgvs_c": "c.428A>G",
"hgvs_p": "p.Asn143Ser",
"transcript": "ENST00000381254.7",
"protein_id": "ENSP00000370653.2",
"transcript_support_level": 5,
"aa_start": 143,
"aa_end": null,
"aa_length": 908,
"cds_start": 428,
"cds_end": null,
"cds_length": 2727,
"cdna_start": 651,
"cdna_end": null,
"cdna_length": 9957,
"mane_select": "NM_001130009.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEN1",
"gene_hgnc_id": 26881,
"hgvs_c": "c.428A>G",
"hgvs_p": "p.Asn143Ser",
"transcript": "NM_182625.5",
"protein_id": "NP_872431.5",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 908,
"cds_start": 428,
"cds_end": null,
"cds_length": 2727,
"cdna_start": 542,
"cdna_end": null,
"cdna_length": 9848,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEN1",
"gene_hgnc_id": 26881,
"hgvs_c": "c.428A>G",
"hgvs_p": "p.Asn143Ser",
"transcript": "ENST00000317402.11",
"protein_id": "ENSP00000318977.7",
"transcript_support_level": 2,
"aa_start": 143,
"aa_end": null,
"aa_length": 908,
"cds_start": 428,
"cds_end": null,
"cds_length": 2727,
"cdna_start": 553,
"cdna_end": null,
"cdna_length": 9854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEN1",
"gene_hgnc_id": 26881,
"hgvs_c": "c.428A>G",
"hgvs_p": "p.Asn143Ser",
"transcript": "XM_005262613.5",
"protein_id": "XP_005262670.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 908,
"cds_start": 428,
"cds_end": null,
"cds_length": 2727,
"cdna_start": 648,
"cdna_end": null,
"cdna_length": 9954,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEN1",
"gene_hgnc_id": 26881,
"hgvs_c": "c.428A>G",
"hgvs_p": "p.Asn143Ser",
"transcript": "XM_006712005.4",
"protein_id": "XP_006712068.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 908,
"cds_start": 428,
"cds_end": null,
"cds_length": 2727,
"cdna_start": 539,
"cdna_end": null,
"cdna_length": 9845,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEN1",
"gene_hgnc_id": 26881,
"hgvs_c": "c.428A>G",
"hgvs_p": "p.Asn143Ser",
"transcript": "XM_011532820.3",
"protein_id": "XP_011531122.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 908,
"cds_start": 428,
"cds_end": null,
"cds_length": 2727,
"cdna_start": 559,
"cdna_end": null,
"cdna_length": 9865,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEN1",
"gene_hgnc_id": 26881,
"hgvs_c": "c.428A>G",
"hgvs_p": "p.Asn143Ser",
"transcript": "XM_011532821.3",
"protein_id": "XP_011531123.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 908,
"cds_start": 428,
"cds_end": null,
"cds_length": 2727,
"cdna_start": 668,
"cdna_end": null,
"cdna_length": 9974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEN1",
"gene_hgnc_id": 26881,
"hgvs_c": "c.428A>G",
"hgvs_p": "p.Asn143Ser",
"transcript": "XM_011532822.3",
"protein_id": "XP_011531124.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 908,
"cds_start": 428,
"cds_end": null,
"cds_length": 2727,
"cdna_start": 935,
"cdna_end": null,
"cdna_length": 10241,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEN1",
"gene_hgnc_id": 26881,
"hgvs_c": "c.428A>G",
"hgvs_p": "p.Asn143Ser",
"transcript": "XM_047444147.1",
"protein_id": "XP_047300103.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 908,
"cds_start": 428,
"cds_end": null,
"cds_length": 2727,
"cdna_start": 6234,
"cdna_end": null,
"cdna_length": 15540,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GEN1",
"gene_hgnc_id": 26881,
"hgvs_c": "n.267A>G",
"hgvs_p": null,
"transcript": "ENST00000534669.1",
"protein_id": null,
"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": 435,
"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": 30,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SMC6",
"gene_hgnc_id": 20466,
"hgvs_c": "c.-5-19025T>C",
"hgvs_p": null,
"transcript": "ENST00000402989.5",
"protein_id": "ENSP00000384539.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1091,
"cds_start": -4,
"cds_end": null,
"cds_length": 3276,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3729,
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SMC6",
"gene_hgnc_id": 20466,
"hgvs_c": "c.-5-19025T>C",
"hgvs_p": null,
"transcript": "ENST00000428868.1",
"protein_id": "ENSP00000415352.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 56,
"cds_start": -4,
"cds_end": null,
"cds_length": 171,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 544,
"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": 3,
"intron_rank_end": null,
"gene_symbol": "LOC105373449",
"gene_hgnc_id": null,
"hgvs_c": "n.409-329T>C",
"hgvs_p": null,
"transcript": "XR_939762.3",
"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": 599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"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": "GEN1",
"gene_hgnc_id": 26881,
"hgvs_c": "c.*49A>G",
"hgvs_p": null,
"transcript": "ENST00000524465.5",
"protein_id": "ENSP00000435143.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 125,
"cds_start": -4,
"cds_end": null,
"cds_length": 379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GEN1",
"gene_hgnc_id": 26881,
"dbsnp": "rs16981869",
"frequency_reference_population": 0.10528266,
"hom_count_reference_population": 9839,
"allele_count_reference_population": 169918,
"gnomad_exomes_af": 0.102089,
"gnomad_genomes_af": 0.135961,
"gnomad_exomes_ac": 149228,
"gnomad_genomes_ac": 20690,
"gnomad_exomes_homalt": 8134,
"gnomad_genomes_homalt": 1705,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.001873403787612915,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.291,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1705,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.122,
"phylop100way_prediction": "Uncertain_significance",
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000381254.7",
"gene_symbol": "GEN1",
"hgnc_id": 26881,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.428A>G",
"hgvs_p": "p.Asn143Ser"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000402989.5",
"gene_symbol": "SMC6",
"hgnc_id": 20466,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.-5-19025T>C",
"hgvs_p": null
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "XR_939762.3",
"gene_symbol": "LOC105373449",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.409-329T>C",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}