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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: 17-30287922-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=30287922&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 30287922,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_000386.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLMH",
"gene_hgnc_id": 1059,
"hgvs_c": "c.347G>A",
"hgvs_p": "p.Ser116Asn",
"transcript": "NM_000386.4",
"protein_id": "NP_000377.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 455,
"cds_start": 347,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000261714.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000386.4"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLMH",
"gene_hgnc_id": 1059,
"hgvs_c": "c.347G>A",
"hgvs_p": "p.Ser116Asn",
"transcript": "ENST00000261714.11",
"protein_id": "ENSP00000261714.6",
"transcript_support_level": 1,
"aa_start": 116,
"aa_end": null,
"aa_length": 455,
"cds_start": 347,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000386.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261714.11"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLMH",
"gene_hgnc_id": 1059,
"hgvs_c": "c.347G>A",
"hgvs_p": "p.Ser116Asn",
"transcript": "ENST00000935069.1",
"protein_id": "ENSP00000605128.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 486,
"cds_start": 347,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935069.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLMH",
"gene_hgnc_id": 1059,
"hgvs_c": "c.347G>A",
"hgvs_p": "p.Ser116Asn",
"transcript": "ENST00000935072.1",
"protein_id": "ENSP00000605131.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 415,
"cds_start": 347,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935072.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLMH",
"gene_hgnc_id": 1059,
"hgvs_c": "c.347G>A",
"hgvs_p": "p.Ser116Asn",
"transcript": "ENST00000935067.1",
"protein_id": "ENSP00000605126.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 403,
"cds_start": 347,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935067.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLMH",
"gene_hgnc_id": 1059,
"hgvs_c": "c.347G>A",
"hgvs_p": "p.Ser116Asn",
"transcript": "ENST00000935066.1",
"protein_id": "ENSP00000605125.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 402,
"cds_start": 347,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935066.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLMH",
"gene_hgnc_id": 1059,
"hgvs_c": "c.347G>A",
"hgvs_p": "p.Ser116Asn",
"transcript": "ENST00000584603.2",
"protein_id": "ENSP00000468486.1",
"transcript_support_level": 5,
"aa_start": 116,
"aa_end": null,
"aa_length": 317,
"cds_start": 347,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000584603.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLMH",
"gene_hgnc_id": 1059,
"hgvs_c": "c.347G>A",
"hgvs_p": "p.Ser116Asn",
"transcript": "ENST00000935068.1",
"protein_id": "ENSP00000605127.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 288,
"cds_start": 347,
"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": "ENST00000935068.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"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": "BLMH",
"gene_hgnc_id": 1059,
"hgvs_c": "c.104G>A",
"hgvs_p": "p.Ser35Asn",
"transcript": "ENST00000580709.1",
"protein_id": "ENSP00000466527.1",
"transcript_support_level": 4,
"aa_start": 35,
"aa_end": null,
"aa_length": 66,
"cds_start": 104,
"cds_end": null,
"cds_length": 202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000580709.1"
},
{
"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": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BLMH",
"gene_hgnc_id": 1059,
"hgvs_c": "c.212-1020G>A",
"hgvs_p": null,
"transcript": "ENST00000935071.1",
"protein_id": "ENSP00000605130.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 371,
"cds_start": null,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935071.1"
},
{
"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": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BLMH",
"gene_hgnc_id": 1059,
"hgvs_c": "c.-14-1071G>A",
"hgvs_p": null,
"transcript": "ENST00000577623.5",
"protein_id": "ENSP00000468681.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 230,
"cds_start": null,
"cds_end": null,
"cds_length": 694,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000577623.5"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BLMH",
"gene_hgnc_id": 1059,
"hgvs_c": "c.211+3389G>A",
"hgvs_p": null,
"transcript": "ENST00000935070.1",
"protein_id": "ENSP00000605129.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 120,
"cds_start": null,
"cds_end": null,
"cds_length": 363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935070.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLMH",
"gene_hgnc_id": 1059,
"hgvs_c": "n.*21G>A",
"hgvs_p": null,
"transcript": "ENST00000578090.5",
"protein_id": "ENSP00000462353.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000578090.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLMH",
"gene_hgnc_id": 1059,
"hgvs_c": "n.*21G>A",
"hgvs_p": null,
"transcript": "ENST00000578090.5",
"protein_id": "ENSP00000462353.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000578090.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLMH",
"gene_hgnc_id": 1059,
"hgvs_c": "c.-8G>A",
"hgvs_p": null,
"transcript": "ENST00000581037.5",
"protein_id": "ENSP00000462442.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 261,
"cds_start": null,
"cds_end": null,
"cds_length": 788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000581037.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNU6-1267P",
"gene_hgnc_id": 48230,
"hgvs_c": "n.*149G>A",
"hgvs_p": null,
"transcript": "ENST00000410747.1",
"protein_id": null,
"transcript_support_level": 6,
"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": "snRNA",
"feature": "ENST00000410747.1"
}
],
"gene_symbol": "BLMH",
"gene_hgnc_id": 1059,
"dbsnp": "rs760721245",
"frequency_reference_population": 0.000010535357,
"hom_count_reference_population": 0,
"allele_count_reference_population": 17,
"gnomad_exomes_af": 0.0000102631,
"gnomad_genomes_af": 0.0000131517,
"gnomad_exomes_ac": 15,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.044827669858932495,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.091,
"revel_prediction": "Benign",
"alphamissense_score": 0.0698,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.67,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.703,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_000386.4",
"gene_symbol": "BLMH",
"hgnc_id": 1059,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.347G>A",
"hgvs_p": "p.Ser116Asn"
},
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000410747.1",
"gene_symbol": "RNU6-1267P",
"hgnc_id": 48230,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*149G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}