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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: 7-76303809-CGAG-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=76303809&ref=CGAG&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 76303809,
"ref": "CGAG",
"alt": "C",
"effect": "conservative_inframe_deletion",
"transcript": "NM_001540.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPB1",
"gene_hgnc_id": 5246,
"hgvs_c": "c.376_378delGAG",
"hgvs_p": "p.Glu126del",
"transcript": "NM_001540.5",
"protein_id": "NP_001531.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 205,
"cds_start": 376,
"cds_end": null,
"cds_length": 618,
"cdna_start": 416,
"cdna_end": null,
"cdna_length": 777,
"mane_select": "ENST00000248553.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001540.5"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPB1",
"gene_hgnc_id": 5246,
"hgvs_c": "c.376_378delGAG",
"hgvs_p": "p.Glu126del",
"transcript": "ENST00000248553.7",
"protein_id": "ENSP00000248553.6",
"transcript_support_level": 1,
"aa_start": 126,
"aa_end": null,
"aa_length": 205,
"cds_start": 376,
"cds_end": null,
"cds_length": 618,
"cdna_start": 416,
"cdna_end": null,
"cdna_length": 777,
"mane_select": "NM_001540.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000248553.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPB1",
"gene_hgnc_id": 5246,
"hgvs_c": "c.-129_-127delGAG",
"hgvs_p": null,
"transcript": "ENST00000429938.1",
"protein_id": "ENSP00000405285.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 37,
"cds_start": null,
"cds_end": null,
"cds_length": 114,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 527,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429938.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPB1",
"gene_hgnc_id": 5246,
"hgvs_c": "n.1126_1128delGAG",
"hgvs_p": null,
"transcript": "ENST00000447574.1",
"protein_id": null,
"transcript_support_level": 1,
"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": 1455,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000447574.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPB1",
"gene_hgnc_id": 5246,
"hgvs_c": "c.406_408delGAG",
"hgvs_p": "p.Glu136del",
"transcript": "ENST00000676231.2",
"protein_id": "ENSP00000502249.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 215,
"cds_start": 406,
"cds_end": null,
"cds_length": 648,
"cdna_start": 446,
"cdna_end": null,
"cdna_length": 2328,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676231.2"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPB1",
"gene_hgnc_id": 5246,
"hgvs_c": "c.376_378delGAG",
"hgvs_p": "p.Glu126del",
"transcript": "ENST00000675134.1",
"protein_id": "ENSP00000501831.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 198,
"cds_start": 376,
"cds_end": null,
"cds_length": 597,
"cdna_start": 416,
"cdna_end": null,
"cdna_length": 756,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675134.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPB1",
"gene_hgnc_id": 5246,
"hgvs_c": "c.376_378delGAG",
"hgvs_p": "p.Glu126del",
"transcript": "ENST00000674547.1",
"protein_id": "ENSP00000502461.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 143,
"cds_start": 376,
"cds_end": null,
"cds_length": 432,
"cdna_start": 416,
"cdna_end": null,
"cdna_length": 800,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674547.1"
},
{
"aa_ref": "E",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPB1",
"gene_hgnc_id": 5246,
"hgvs_c": "c.376_378delGAG",
"hgvs_p": "p.Glu126del",
"transcript": "ENST00000675906.1",
"protein_id": "ENSP00000502714.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 143,
"cds_start": 376,
"cds_end": null,
"cds_length": 432,
"cdna_start": 416,
"cdna_end": null,
"cdna_length": 794,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675906.1"
},
{
"aa_ref": "RS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPB1",
"gene_hgnc_id": 5246,
"hgvs_c": "c.411_413delGAG",
"hgvs_p": "p.Arg137del",
"transcript": "ENST00000675538.1",
"protein_id": "ENSP00000502495.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 174,
"cds_start": 411,
"cds_end": null,
"cds_length": 525,
"cdna_start": 451,
"cdna_end": null,
"cdna_length": 812,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675538.1"
},
{
"aa_ref": "RS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPB1",
"gene_hgnc_id": 5246,
"hgvs_c": "c.375_377delGAG",
"hgvs_p": "p.Arg125del",
"transcript": "ENST00000675226.1",
"protein_id": "ENSP00000502510.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 162,
"cds_start": 375,
"cds_end": null,
"cds_length": 489,
"cdna_start": 415,
"cdna_end": null,
"cdna_length": 776,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675226.1"
},
{
"aa_ref": "GA",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPB1",
"gene_hgnc_id": 5246,
"hgvs_c": "c.371_373delGAG",
"hgvs_p": "p.Gly124del",
"transcript": "ENST00000674638.1",
"protein_id": "ENSP00000502651.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 157,
"cds_start": 371,
"cds_end": null,
"cds_length": 474,
"cdna_start": 411,
"cdna_end": null,
"cdna_length": 772,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674638.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HSPB1",
"gene_hgnc_id": 5246,
"hgvs_c": "c.365-171_365-169delGAG",
"hgvs_p": null,
"transcript": "ENST00000674650.1",
"protein_id": "ENSP00000501628.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 141,
"cds_start": null,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 687,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674650.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPB1",
"gene_hgnc_id": 5246,
"hgvs_c": "n.*32_*34delGAG",
"hgvs_p": null,
"transcript": "ENST00000674965.1",
"protein_id": "ENSP00000501765.1",
"transcript_support_level": null,
"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": 802,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000674965.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPB1",
"gene_hgnc_id": 5246,
"hgvs_c": "n.609_611delGAG",
"hgvs_p": null,
"transcript": "ENST00000675417.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1089,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000675417.1"
},
{
"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": "HSPB1",
"gene_hgnc_id": 5246,
"hgvs_c": "n.92_94delGAG",
"hgvs_p": null,
"transcript": "ENST00000676195.1",
"protein_id": null,
"transcript_support_level": null,
"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": 144,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000676195.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPB1",
"gene_hgnc_id": 5246,
"hgvs_c": "n.*32_*34delGAG",
"hgvs_p": null,
"transcript": "ENST00000674965.1",
"protein_id": "ENSP00000501765.1",
"transcript_support_level": null,
"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": 802,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000674965.1"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPB1",
"gene_hgnc_id": 5246,
"hgvs_c": "n.*18_*20delGAG",
"hgvs_p": null,
"transcript": "ENST00000675733.1",
"protein_id": null,
"transcript_support_level": null,
"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": 435,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000675733.1"
}
],
"gene_symbol": "HSPB1",
"gene_hgnc_id": 5246,
"dbsnp": "rs1554614633",
"frequency_reference_population": 0.0000020566144,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205661,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 5.212,
"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": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PM2,PM4_Supporting",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM1",
"PM2",
"PM4_Supporting"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001540.5",
"gene_symbol": "HSPB1",
"hgnc_id": 5246,
"effects": [
"conservative_inframe_deletion"
],
"inheritance_mode": "AD",
"hgvs_c": "c.376_378delGAG",
"hgvs_p": "p.Glu126del"
}
],
"clinvar_disease": "Charcot-Marie-Tooth disease axonal type 2F,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Charcot-Marie-Tooth disease axonal type 2F|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}