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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: 1-16015651-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=16015651&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 16015651,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000311890.14",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPB7",
"gene_hgnc_id": 5249,
"hgvs_c": "c.442A>G",
"hgvs_p": "p.Thr148Ala",
"transcript": "NM_014424.5",
"protein_id": "NP_055239.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 170,
"cds_start": 442,
"cds_end": null,
"cds_length": 513,
"cdna_start": 522,
"cdna_end": null,
"cdna_length": 2144,
"mane_select": "ENST00000311890.14",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPB7",
"gene_hgnc_id": 5249,
"hgvs_c": "c.442A>G",
"hgvs_p": "p.Thr148Ala",
"transcript": "ENST00000311890.14",
"protein_id": "ENSP00000310111.9",
"transcript_support_level": 1,
"aa_start": 148,
"aa_end": null,
"aa_length": 170,
"cds_start": 442,
"cds_end": null,
"cds_length": 513,
"cdna_start": 522,
"cdna_end": null,
"cdna_length": 2144,
"mane_select": "NM_014424.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPB7",
"gene_hgnc_id": 5249,
"hgvs_c": "c.457A>G",
"hgvs_p": "p.Thr153Ala",
"transcript": "ENST00000487046.1",
"protein_id": "ENSP00000419477.1",
"transcript_support_level": 1,
"aa_start": 153,
"aa_end": null,
"aa_length": 175,
"cds_start": 457,
"cds_end": null,
"cds_length": 528,
"cdna_start": 567,
"cdna_end": null,
"cdna_length": 844,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPB7",
"gene_hgnc_id": 5249,
"hgvs_c": "c.454A>G",
"hgvs_p": "p.Thr152Ala",
"transcript": "ENST00000406363.2",
"protein_id": "ENSP00000385472.2",
"transcript_support_level": 1,
"aa_start": 152,
"aa_end": null,
"aa_length": 174,
"cds_start": 454,
"cds_end": null,
"cds_length": 525,
"cdna_start": 496,
"cdna_end": null,
"cdna_length": 648,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPB7",
"gene_hgnc_id": 5249,
"hgvs_c": "c.427A>G",
"hgvs_p": "p.Thr143Ala",
"transcript": "ENST00000411503.5",
"protein_id": "ENSP00000391578.1",
"transcript_support_level": 1,
"aa_start": 143,
"aa_end": null,
"aa_length": 165,
"cds_start": 427,
"cds_end": null,
"cds_length": 498,
"cdna_start": 505,
"cdna_end": null,
"cdna_length": 2128,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "HSPB7",
"gene_hgnc_id": 5249,
"hgvs_c": "n.1079A>G",
"hgvs_p": null,
"transcript": "ENST00000442459.2",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"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": "HSPB7",
"gene_hgnc_id": 5249,
"hgvs_c": "c.667A>G",
"hgvs_p": "p.Thr223Ala",
"transcript": "NM_001349682.2",
"protein_id": "NP_001336611.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 245,
"cds_start": 667,
"cds_end": null,
"cds_length": 738,
"cdna_start": 792,
"cdna_end": null,
"cdna_length": 2414,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"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": "HSPB7",
"gene_hgnc_id": 5249,
"hgvs_c": "c.667A>G",
"hgvs_p": "p.Thr223Ala",
"transcript": "ENST00000375718.4",
"protein_id": "ENSP00000364870.4",
"transcript_support_level": 2,
"aa_start": 223,
"aa_end": null,
"aa_length": 245,
"cds_start": 667,
"cds_end": null,
"cds_length": 738,
"cdna_start": 792,
"cdna_end": null,
"cdna_length": 2415,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPB7",
"gene_hgnc_id": 5249,
"hgvs_c": "c.457A>G",
"hgvs_p": "p.Thr153Ala",
"transcript": "NM_001349689.2",
"protein_id": "NP_001336618.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 175,
"cds_start": 457,
"cds_end": null,
"cds_length": 528,
"cdna_start": 537,
"cdna_end": null,
"cdna_length": 2159,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPB7",
"gene_hgnc_id": 5249,
"hgvs_c": "c.454A>G",
"hgvs_p": "p.Thr152Ala",
"transcript": "NM_001349683.2",
"protein_id": "NP_001336612.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 174,
"cds_start": 454,
"cds_end": null,
"cds_length": 525,
"cdna_start": 534,
"cdna_end": null,
"cdna_length": 2156,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPB7",
"gene_hgnc_id": 5249,
"hgvs_c": "c.439A>G",
"hgvs_p": "p.Thr147Ala",
"transcript": "NM_001349688.2",
"protein_id": "NP_001336617.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 169,
"cds_start": 439,
"cds_end": null,
"cds_length": 510,
"cdna_start": 519,
"cdna_end": null,
"cdna_length": 2141,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPB7",
"gene_hgnc_id": 5249,
"hgvs_c": "c.427A>G",
"hgvs_p": "p.Thr143Ala",
"transcript": "NM_001349687.2",
"protein_id": "NP_001336616.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 165,
"cds_start": 427,
"cds_end": null,
"cds_length": 498,
"cdna_start": 507,
"cdna_end": null,
"cdna_length": 2129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPB7",
"gene_hgnc_id": 5249,
"hgvs_c": "c.424A>G",
"hgvs_p": "p.Thr142Ala",
"transcript": "NM_001349685.2",
"protein_id": "NP_001336614.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 164,
"cds_start": 424,
"cds_end": null,
"cds_length": 495,
"cdna_start": 504,
"cdna_end": null,
"cdna_length": 2126,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPB7",
"gene_hgnc_id": 5249,
"hgvs_c": "c.400A>G",
"hgvs_p": "p.Thr134Ala",
"transcript": "NM_001349686.2",
"protein_id": "NP_001336615.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 156,
"cds_start": 400,
"cds_end": null,
"cds_length": 471,
"cdna_start": 480,
"cdna_end": null,
"cdna_length": 2102,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPB7",
"gene_hgnc_id": 5249,
"hgvs_c": "c.304A>G",
"hgvs_p": "p.Thr102Ala",
"transcript": "ENST00000463576.5",
"protein_id": "ENSP00000417966.1",
"transcript_support_level": 4,
"aa_start": 102,
"aa_end": null,
"aa_length": 124,
"cds_start": 304,
"cds_end": null,
"cds_length": 375,
"cdna_start": 304,
"cdna_end": null,
"cdna_length": 581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "HSPB7",
"gene_hgnc_id": 5249,
"dbsnp": "rs530970423",
"frequency_reference_population": 0.00035880588,
"hom_count_reference_population": 9,
"allele_count_reference_population": 579,
"gnomad_exomes_af": 0.000368779,
"gnomad_genomes_af": 0.000262971,
"gnomad_exomes_ac": 539,
"gnomad_genomes_ac": 40,
"gnomad_exomes_homalt": 9,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.015426725149154663,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.834,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.1999,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.29,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.883,
"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": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS2",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000311890.14",
"gene_symbol": "HSPB7",
"hgnc_id": 5249,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.442A>G",
"hgvs_p": "p.Thr148Ala"
}
],
"clinvar_disease": "Oromandibular-limb hypogenesis spectrum",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Oromandibular-limb hypogenesis spectrum",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}