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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: 16-29993247-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=29993247&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 29993247,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_003609.5",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "R",
"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": "HIRIP3",
"gene_hgnc_id": 4917,
"hgvs_c": "c.1631A>G",
"hgvs_p": "p.His544Arg",
"transcript": "NM_003609.5",
"protein_id": "NP_003600.2",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 556,
"cds_start": 1631,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 1643,
"cdna_end": null,
"cdna_length": 2560,
"mane_select": "ENST00000279392.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003609.5"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": true,
"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": "HIRIP3",
"gene_hgnc_id": 4917,
"hgvs_c": "c.1631A>G",
"hgvs_p": "p.His544Arg",
"transcript": "ENST00000279392.8",
"protein_id": "ENSP00000279392.3",
"transcript_support_level": 1,
"aa_start": 544,
"aa_end": null,
"aa_length": 556,
"cds_start": 1631,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 1643,
"cdna_end": null,
"cdna_length": 2560,
"mane_select": "NM_003609.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000279392.8"
},
{
"aa_ref": "H",
"aa_alt": "R",
"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": "HIRIP3",
"gene_hgnc_id": 4917,
"hgvs_c": "c.1637A>G",
"hgvs_p": "p.His546Arg",
"transcript": "ENST00000948389.1",
"protein_id": "ENSP00000618448.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 558,
"cds_start": 1637,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 2118,
"cdna_end": null,
"cdna_length": 2373,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948389.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"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": "HIRIP3",
"gene_hgnc_id": 4917,
"hgvs_c": "c.1622A>G",
"hgvs_p": "p.His541Arg",
"transcript": "ENST00000918288.1",
"protein_id": "ENSP00000588347.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 553,
"cds_start": 1622,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 1628,
"cdna_end": null,
"cdna_length": 1877,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918288.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"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": "HIRIP3",
"gene_hgnc_id": 4917,
"hgvs_c": "c.1616A>G",
"hgvs_p": "p.His539Arg",
"transcript": "ENST00000948388.1",
"protein_id": "ENSP00000618447.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 551,
"cds_start": 1616,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 2131,
"cdna_end": null,
"cdna_length": 2385,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948388.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIRIP3",
"gene_hgnc_id": 4917,
"hgvs_c": "c.821A>G",
"hgvs_p": "p.His274Arg",
"transcript": "ENST00000948390.1",
"protein_id": "ENSP00000618449.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 286,
"cds_start": 821,
"cds_end": null,
"cds_length": 861,
"cdna_start": 828,
"cdna_end": null,
"cdna_length": 1080,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948390.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"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": "HIRIP3",
"gene_hgnc_id": 4917,
"hgvs_c": "c.806A>G",
"hgvs_p": "p.His269Arg",
"transcript": "ENST00000873673.1",
"protein_id": "ENSP00000543732.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 281,
"cds_start": 806,
"cds_end": null,
"cds_length": 846,
"cdna_start": 817,
"cdna_end": null,
"cdna_length": 1071,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873673.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"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": "HIRIP3",
"gene_hgnc_id": 4917,
"hgvs_c": "c.722A>G",
"hgvs_p": "p.His241Arg",
"transcript": "ENST00000873671.1",
"protein_id": "ENSP00000543730.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 253,
"cds_start": 722,
"cds_end": null,
"cds_length": 762,
"cdna_start": 1210,
"cdna_end": null,
"cdna_length": 2089,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873671.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIRIP3",
"gene_hgnc_id": 4917,
"hgvs_c": "c.695A>G",
"hgvs_p": "p.His232Arg",
"transcript": "ENST00000873670.1",
"protein_id": "ENSP00000543729.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 244,
"cds_start": 695,
"cds_end": null,
"cds_length": 735,
"cdna_start": 1175,
"cdna_end": null,
"cdna_length": 2083,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873670.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIRIP3",
"gene_hgnc_id": 4917,
"hgvs_c": "c.689A>G",
"hgvs_p": "p.His230Arg",
"transcript": "ENST00000873672.1",
"protein_id": "ENSP00000543731.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 242,
"cds_start": 689,
"cds_end": null,
"cds_length": 729,
"cdna_start": 1175,
"cdna_end": null,
"cdna_length": 1426,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873672.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIRIP3",
"gene_hgnc_id": 4917,
"hgvs_c": "c.683A>G",
"hgvs_p": "p.His228Arg",
"transcript": "ENST00000873668.1",
"protein_id": "ENSP00000543727.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 240,
"cds_start": 683,
"cds_end": null,
"cds_length": 723,
"cdna_start": 1169,
"cdna_end": null,
"cdna_length": 2077,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873668.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIRIP3",
"gene_hgnc_id": 4917,
"hgvs_c": "c.572A>G",
"hgvs_p": "p.His191Arg",
"transcript": "ENST00000873669.1",
"protein_id": "ENSP00000543728.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 203,
"cds_start": 572,
"cds_end": null,
"cds_length": 612,
"cdna_start": 1053,
"cdna_end": null,
"cdna_length": 1965,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873669.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIRIP3",
"gene_hgnc_id": 4917,
"hgvs_c": "c.*165A>G",
"hgvs_p": null,
"transcript": "NM_001197323.1",
"protein_id": "NP_001184252.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 175,
"cds_start": null,
"cds_end": null,
"cds_length": 528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2110,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001197323.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIRIP3",
"gene_hgnc_id": 4917,
"hgvs_c": "c.*165A>G",
"hgvs_p": null,
"transcript": "ENST00000564026.1",
"protein_id": "ENSP00000456824.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 175,
"cds_start": null,
"cds_end": null,
"cds_length": 528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 988,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000564026.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIRIP3",
"gene_hgnc_id": 4917,
"hgvs_c": "n.1435A>G",
"hgvs_p": null,
"transcript": "ENST00000563053.1",
"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": 1686,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000563053.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIRIP3",
"gene_hgnc_id": 4917,
"hgvs_c": "n.*220A>G",
"hgvs_p": null,
"transcript": "ENST00000563680.1",
"protein_id": null,
"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": 755,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000563680.1"
}
],
"gene_symbol": "HIRIP3",
"gene_hgnc_id": 4917,
"dbsnp": "rs372208875",
"frequency_reference_population": 0.000020787795,
"hom_count_reference_population": 0,
"allele_count_reference_population": 33,
"gnomad_exomes_af": 0.0000215979,
"gnomad_genomes_af": 0.0000131456,
"gnomad_exomes_ac": 31,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.21989893913269043,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.096,
"revel_prediction": "Benign",
"alphamissense_score": 0.3638,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.478,
"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_003609.5",
"gene_symbol": "HIRIP3",
"hgnc_id": 4917,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1631A>G",
"hgvs_p": "p.His544Arg"
}
],
"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
}