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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: 7-76304007-CC-TT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=76304007&ref=CC&alt=TT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS1_Very_Strong",
"PM1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "HSPB1",
"hgnc_id": 5246,
"hgvs_c": "c.452_453delCCinsTT",
"hgvs_p": "p.Thr151Ile",
"inheritance_mode": "AD",
"pathogenic_score": 10,
"score": 10,
"transcript": "NM_001540.5",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS1_Very_Strong,PM1",
"acmg_score": 10,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "7",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 205,
"aa_ref": "T",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 777,
"cdna_start": 492,
"cds_end": null,
"cds_length": 618,
"cds_start": 452,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001540.5",
"gene_hgnc_id": 5246,
"gene_symbol": "HSPB1",
"hgvs_c": "c.452_453delCCinsTT",
"hgvs_p": "p.Thr151Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000248553.7",
"protein_coding": true,
"protein_id": "NP_001531.1",
"strand": true,
"transcript": "NM_001540.5",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 205,
"aa_ref": "T",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 777,
"cdna_start": 492,
"cds_end": null,
"cds_length": 618,
"cds_start": 452,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000248553.7",
"gene_hgnc_id": 5246,
"gene_symbol": "HSPB1",
"hgvs_c": "c.452_453delCCinsTT",
"hgvs_p": "p.Thr151Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001540.5",
"protein_coding": true,
"protein_id": "ENSP00000248553.6",
"strand": true,
"transcript": "ENST00000248553.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 37,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 527,
"cdna_start": null,
"cds_end": null,
"cds_length": 114,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000429938.1",
"gene_hgnc_id": 5246,
"gene_symbol": "HSPB1",
"hgvs_c": "c.-53_-52delCCinsTT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000405285.1",
"strand": true,
"transcript": "ENST00000429938.1",
"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": 1455,
"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": "ENST00000447574.1",
"gene_hgnc_id": 5246,
"gene_symbol": "HSPB1",
"hgvs_c": "n.1202_1203delCCinsTT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000447574.1",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 215,
"aa_ref": "T",
"aa_start": 161,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2328,
"cdna_start": 522,
"cds_end": null,
"cds_length": 648,
"cds_start": 482,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000676231.2",
"gene_hgnc_id": 5246,
"gene_symbol": "HSPB1",
"hgvs_c": "c.482_483delCCinsTT",
"hgvs_p": "p.Thr161Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502249.1",
"strand": true,
"transcript": "ENST00000676231.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 198,
"aa_ref": "T",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 756,
"cdna_start": 471,
"cds_end": null,
"cds_length": 597,
"cds_start": 431,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000675134.1",
"gene_hgnc_id": 5246,
"gene_symbol": "HSPB1",
"hgvs_c": "c.431_432delCCinsTT",
"hgvs_p": "p.Thr144Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501831.1",
"strand": true,
"transcript": "ENST00000675134.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 174,
"aa_ref": "P",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 812,
"cdna_start": 527,
"cds_end": null,
"cds_length": 525,
"cds_start": 487,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000675538.1",
"gene_hgnc_id": 5246,
"gene_symbol": "HSPB1",
"hgvs_c": "c.487_488delCCinsTT",
"hgvs_p": "p.Pro163Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502495.1",
"strand": true,
"transcript": "ENST00000675538.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 162,
"aa_ref": "P",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 776,
"cdna_start": 491,
"cds_end": null,
"cds_length": 489,
"cds_start": 451,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000675226.1",
"gene_hgnc_id": 5246,
"gene_symbol": "HSPB1",
"hgvs_c": "c.451_452delCCinsTT",
"hgvs_p": "p.Pro151Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502510.1",
"strand": true,
"transcript": "ENST00000675226.1",
"transcript_support_level": null
},
{
"aa_alt": "HS",
"aa_end": null,
"aa_length": 157,
"aa_ref": "HP",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 772,
"cdna_start": 487,
"cds_end": null,
"cds_length": 474,
"cds_start": 447,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000674638.1",
"gene_hgnc_id": 5246,
"gene_symbol": "HSPB1",
"hgvs_c": "c.447_448delCCinsTT",
"hgvs_p": "p.Pro150Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502651.1",
"strand": true,
"transcript": "ENST00000674638.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 141,
"aa_ref": "P",
"aa_start": 130,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 687,
"cdna_start": 402,
"cds_end": null,
"cds_length": 426,
"cds_start": 388,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000674650.1",
"gene_hgnc_id": 5246,
"gene_symbol": "HSPB1",
"hgvs_c": "c.388_389delCCinsTT",
"hgvs_p": "p.Pro130Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501628.1",
"strand": true,
"transcript": "ENST00000674650.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 143,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 800,
"cdna_start": null,
"cds_end": null,
"cds_length": 432,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000674547.1",
"gene_hgnc_id": 5246,
"gene_symbol": "HSPB1",
"hgvs_c": "c.*43_*44delCCinsTT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502461.1",
"strand": true,
"transcript": "ENST00000674547.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 143,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 794,
"cdna_start": null,
"cds_end": null,
"cds_length": 432,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000675906.1",
"gene_hgnc_id": 5246,
"gene_symbol": "HSPB1",
"hgvs_c": "c.*37_*38delCCinsTT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502714.1",
"strand": true,
"transcript": "ENST00000675906.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 802,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000674965.1",
"gene_hgnc_id": 5246,
"gene_symbol": "HSPB1",
"hgvs_c": "n.*108_*109delCCinsTT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000501765.1",
"strand": true,
"transcript": "ENST00000674965.1",
"transcript_support_level": null
},
{
"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": 1089,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 1,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000675417.1",
"gene_hgnc_id": 5246,
"gene_symbol": "HSPB1",
"hgvs_c": "n.803_804delCCinsTT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000675417.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 802,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000674965.1",
"gene_hgnc_id": 5246,
"gene_symbol": "HSPB1",
"hgvs_c": "n.*108_*109delCCinsTT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000501765.1",
"strand": true,
"transcript": "ENST00000674965.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 435,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000675733.1",
"gene_hgnc_id": 5246,
"gene_symbol": "HSPB1",
"hgvs_c": "n.*215_*216delCCinsTT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000675733.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 144,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000676195.1",
"gene_hgnc_id": 5246,
"gene_symbol": "HSPB1",
"hgvs_c": "n.*142_*143delCCinsTT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000676195.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 5246,
"gene_symbol": "HSPB1",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 2.853,
"pos": 76304007,
"ref": "CC",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_001540.5"
}
]
}