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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: 1-16015742-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=16015742&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 13,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "HSPB7",
"hgnc_id": 5249,
"hgvs_c": "c.576T>C",
"hgvs_p": "p.Thr192Thr",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -13,
"transcript": "NM_001349682.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BA1",
"acmg_score": -13,
"allele_count_reference_population": 941309,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -1,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -1,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 170,
"aa_ref": "T",
"aa_start": 117,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2144,
"cdna_start": 431,
"cds_end": null,
"cds_length": 513,
"cds_start": 351,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_014424.5",
"gene_hgnc_id": 5249,
"gene_symbol": "HSPB7",
"hgvs_c": "c.351T>C",
"hgvs_p": "p.Thr117Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000311890.14",
"protein_coding": true,
"protein_id": "NP_055239.1",
"strand": false,
"transcript": "NM_014424.5",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 170,
"aa_ref": "T",
"aa_start": 117,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2144,
"cdna_start": 431,
"cds_end": null,
"cds_length": 513,
"cds_start": 351,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000311890.14",
"gene_hgnc_id": 5249,
"gene_symbol": "HSPB7",
"hgvs_c": "c.351T>C",
"hgvs_p": "p.Thr117Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014424.5",
"protein_coding": true,
"protein_id": "ENSP00000310111.9",
"strand": false,
"transcript": "ENST00000311890.14",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 175,
"aa_ref": "T",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 844,
"cdna_start": 476,
"cds_end": null,
"cds_length": 528,
"cds_start": 366,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000487046.1",
"gene_hgnc_id": 5249,
"gene_symbol": "HSPB7",
"hgvs_c": "c.366T>C",
"hgvs_p": "p.Thr122Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000419477.1",
"strand": false,
"transcript": "ENST00000487046.1",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 174,
"aa_ref": "T",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 648,
"cdna_start": 405,
"cds_end": null,
"cds_length": 525,
"cds_start": 363,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000406363.2",
"gene_hgnc_id": 5249,
"gene_symbol": "HSPB7",
"hgvs_c": "c.363T>C",
"hgvs_p": "p.Thr121Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385472.2",
"strand": false,
"transcript": "ENST00000406363.2",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 165,
"aa_ref": "T",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2128,
"cdna_start": 414,
"cds_end": null,
"cds_length": 498,
"cds_start": 336,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000411503.5",
"gene_hgnc_id": 5249,
"gene_symbol": "HSPB7",
"hgvs_c": "c.336T>C",
"hgvs_p": "p.Thr112Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000391578.1",
"strand": false,
"transcript": "ENST00000411503.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2702,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000442459.2",
"gene_hgnc_id": 5249,
"gene_symbol": "HSPB7",
"hgvs_c": "n.988T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000442459.2",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 245,
"aa_ref": "T",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2414,
"cdna_start": 701,
"cds_end": null,
"cds_length": 738,
"cds_start": 576,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001349682.2",
"gene_hgnc_id": 5249,
"gene_symbol": "HSPB7",
"hgvs_c": "c.576T>C",
"hgvs_p": "p.Thr192Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336611.1",
"strand": false,
"transcript": "NM_001349682.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 245,
"aa_ref": "T",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2415,
"cdna_start": 701,
"cds_end": null,
"cds_length": 738,
"cds_start": 576,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000375718.4",
"gene_hgnc_id": 5249,
"gene_symbol": "HSPB7",
"hgvs_c": "c.576T>C",
"hgvs_p": "p.Thr192Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000364870.4",
"strand": false,
"transcript": "ENST00000375718.4",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 175,
"aa_ref": "T",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2159,
"cdna_start": 446,
"cds_end": null,
"cds_length": 528,
"cds_start": 366,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001349689.2",
"gene_hgnc_id": 5249,
"gene_symbol": "HSPB7",
"hgvs_c": "c.366T>C",
"hgvs_p": "p.Thr122Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336618.1",
"strand": false,
"transcript": "NM_001349689.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 175,
"aa_ref": "T",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2254,
"cdna_start": 542,
"cds_end": null,
"cds_length": 528,
"cds_start": 366,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000956995.1",
"gene_hgnc_id": 5249,
"gene_symbol": "HSPB7",
"hgvs_c": "c.366T>C",
"hgvs_p": "p.Thr122Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627054.1",
"strand": false,
"transcript": "ENST00000956995.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 174,
"aa_ref": "T",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2156,
"cdna_start": 443,
"cds_end": null,
"cds_length": 525,
"cds_start": 363,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001349683.2",
"gene_hgnc_id": 5249,
"gene_symbol": "HSPB7",
"hgvs_c": "c.363T>C",
"hgvs_p": "p.Thr121Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336612.1",
"strand": false,
"transcript": "NM_001349683.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 170,
"aa_ref": "T",
"aa_start": 117,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2356,
"cdna_start": 645,
"cds_end": null,
"cds_length": 513,
"cds_start": 351,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000861615.1",
"gene_hgnc_id": 5249,
"gene_symbol": "HSPB7",
"hgvs_c": "c.351T>C",
"hgvs_p": "p.Thr117Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531674.1",
"strand": false,
"transcript": "ENST00000861615.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 169,
"aa_ref": "T",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2141,
"cdna_start": 428,
"cds_end": null,
"cds_length": 510,
"cds_start": 348,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001349688.2",
"gene_hgnc_id": 5249,
"gene_symbol": "HSPB7",
"hgvs_c": "c.348T>C",
"hgvs_p": "p.Thr116Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336617.1",
"strand": false,
"transcript": "NM_001349688.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 165,
"aa_ref": "T",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2129,
"cdna_start": 416,
"cds_end": null,
"cds_length": 498,
"cds_start": 336,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001349687.2",
"gene_hgnc_id": 5249,
"gene_symbol": "HSPB7",
"hgvs_c": "c.336T>C",
"hgvs_p": "p.Thr112Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336616.1",
"strand": false,
"transcript": "NM_001349687.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 164,
"aa_ref": "T",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2126,
"cdna_start": 413,
"cds_end": null,
"cds_length": 495,
"cds_start": 333,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001349685.2",
"gene_hgnc_id": 5249,
"gene_symbol": "HSPB7",
"hgvs_c": "c.333T>C",
"hgvs_p": "p.Thr111Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336614.1",
"strand": false,
"transcript": "NM_001349685.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 124,
"aa_ref": "T",
"aa_start": 71,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 581,
"cdna_start": 213,
"cds_end": null,
"cds_length": 375,
"cds_start": 213,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000463576.5",
"gene_hgnc_id": 5249,
"gene_symbol": "HSPB7",
"hgvs_c": "c.213T>C",
"hgvs_p": "p.Thr71Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000417966.1",
"strand": false,
"transcript": "ENST00000463576.5",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 161,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2116,
"cdna_start": null,
"cds_end": null,
"cds_length": 486,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000956996.1",
"gene_hgnc_id": 5249,
"gene_symbol": "HSPB7",
"hgvs_c": "c.349-25T>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627055.1",
"strand": false,
"transcript": "ENST00000956996.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 160,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2114,
"cdna_start": null,
"cds_end": null,
"cds_length": 483,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000861616.1",
"gene_hgnc_id": 5249,
"gene_symbol": "HSPB7",
"hgvs_c": "c.346-25T>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531675.1",
"strand": false,
"transcript": "ENST00000861616.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 156,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2102,
"cdna_start": null,
"cds_end": null,
"cds_length": 471,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001349686.2",
"gene_hgnc_id": 5249,
"gene_symbol": "HSPB7",
"hgvs_c": "c.334-25T>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336615.1",
"strand": false,
"transcript": "NM_001349686.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 154,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2091,
"cdna_start": null,
"cds_end": null,
"cds_length": 465,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000956997.1",
"gene_hgnc_id": 5249,
"gene_symbol": "HSPB7",
"hgvs_c": "c.334-31T>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627056.1",
"strand": false,
"transcript": "ENST00000956997.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1739840",
"effect": "synonymous_variant",
"frequency_reference_population": 0.592443,
"gene_hgnc_id": 5249,
"gene_symbol": "HSPB7",
"gnomad_exomes_ac": 847795,
"gnomad_exomes_af": 0.590057,
"gnomad_exomes_homalt": 251857,
"gnomad_genomes_ac": 93514,
"gnomad_genomes_af": 0.614989,
"gnomad_genomes_homalt": 29272,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 281129,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": -8.437,
"pos": 16015742,
"ref": "A",
"revel_prediction": null,
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}