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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: 1-16017145-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=16017145&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 16017145,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001349682.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPB7",
"gene_hgnc_id": 5249,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Val88Met",
"transcript": "NM_014424.5",
"protein_id": "NP_055239.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 170,
"cds_start": 262,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000311890.14",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014424.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPB7",
"gene_hgnc_id": 5249,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Val88Met",
"transcript": "ENST00000311890.14",
"protein_id": "ENSP00000310111.9",
"transcript_support_level": 1,
"aa_start": 88,
"aa_end": null,
"aa_length": 170,
"cds_start": 262,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014424.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000311890.14"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPB7",
"gene_hgnc_id": 5249,
"hgvs_c": "c.277G>A",
"hgvs_p": "p.Val93Met",
"transcript": "ENST00000487046.1",
"protein_id": "ENSP00000419477.1",
"transcript_support_level": 1,
"aa_start": 93,
"aa_end": null,
"aa_length": 175,
"cds_start": 277,
"cds_end": null,
"cds_length": 528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000487046.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPB7",
"gene_hgnc_id": 5249,
"hgvs_c": "c.274G>A",
"hgvs_p": "p.Val92Met",
"transcript": "ENST00000406363.2",
"protein_id": "ENSP00000385472.2",
"transcript_support_level": 1,
"aa_start": 92,
"aa_end": null,
"aa_length": 174,
"cds_start": 274,
"cds_end": null,
"cds_length": 525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406363.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPB7",
"gene_hgnc_id": 5249,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Val88Met",
"transcript": "ENST00000411503.5",
"protein_id": "ENSP00000391578.1",
"transcript_support_level": 1,
"aa_start": 88,
"aa_end": null,
"aa_length": 165,
"cds_start": 262,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000411503.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "HSPB7",
"gene_hgnc_id": 5249,
"hgvs_c": "n.899G>A",
"hgvs_p": null,
"transcript": "ENST00000442459.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000442459.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPB7",
"gene_hgnc_id": 5249,
"hgvs_c": "c.487G>A",
"hgvs_p": "p.Val163Met",
"transcript": "NM_001349682.2",
"protein_id": "NP_001336611.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 245,
"cds_start": 487,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349682.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPB7",
"gene_hgnc_id": 5249,
"hgvs_c": "c.487G>A",
"hgvs_p": "p.Val163Met",
"transcript": "ENST00000375718.4",
"protein_id": "ENSP00000364870.4",
"transcript_support_level": 2,
"aa_start": 163,
"aa_end": null,
"aa_length": 245,
"cds_start": 487,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375718.4"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPB7",
"gene_hgnc_id": 5249,
"hgvs_c": "c.277G>A",
"hgvs_p": "p.Val93Met",
"transcript": "NM_001349689.2",
"protein_id": "NP_001336618.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 175,
"cds_start": 277,
"cds_end": null,
"cds_length": 528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349689.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPB7",
"gene_hgnc_id": 5249,
"hgvs_c": "c.277G>A",
"hgvs_p": "p.Val93Met",
"transcript": "ENST00000956995.1",
"protein_id": "ENSP00000627054.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 175,
"cds_start": 277,
"cds_end": null,
"cds_length": 528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956995.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPB7",
"gene_hgnc_id": 5249,
"hgvs_c": "c.274G>A",
"hgvs_p": "p.Val92Met",
"transcript": "NM_001349683.2",
"protein_id": "NP_001336612.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 174,
"cds_start": 274,
"cds_end": null,
"cds_length": 525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349683.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPB7",
"gene_hgnc_id": 5249,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Val88Met",
"transcript": "ENST00000861615.1",
"protein_id": "ENSP00000531674.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 170,
"cds_start": 262,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861615.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPB7",
"gene_hgnc_id": 5249,
"hgvs_c": "c.274G>A",
"hgvs_p": "p.Val92Met",
"transcript": "NM_001349688.2",
"protein_id": "NP_001336617.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 169,
"cds_start": 274,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349688.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPB7",
"gene_hgnc_id": 5249,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Val88Met",
"transcript": "NM_001349687.2",
"protein_id": "NP_001336616.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 165,
"cds_start": 262,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349687.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPB7",
"gene_hgnc_id": 5249,
"hgvs_c": "c.244G>A",
"hgvs_p": "p.Val82Met",
"transcript": "NM_001349685.2",
"protein_id": "NP_001336614.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 164,
"cds_start": 244,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349685.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPB7",
"gene_hgnc_id": 5249,
"hgvs_c": "c.277G>A",
"hgvs_p": "p.Val93Met",
"transcript": "ENST00000956996.1",
"protein_id": "ENSP00000627055.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 161,
"cds_start": 277,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956996.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPB7",
"gene_hgnc_id": 5249,
"hgvs_c": "c.274G>A",
"hgvs_p": "p.Val92Met",
"transcript": "ENST00000861616.1",
"protein_id": "ENSP00000531675.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 160,
"cds_start": 274,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861616.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPB7",
"gene_hgnc_id": 5249,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Val88Met",
"transcript": "NM_001349686.2",
"protein_id": "NP_001336615.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 156,
"cds_start": 262,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349686.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPB7",
"gene_hgnc_id": 5249,
"hgvs_c": "c.262G>A",
"hgvs_p": "p.Val88Met",
"transcript": "ENST00000956997.1",
"protein_id": "ENSP00000627056.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 154,
"cds_start": 262,
"cds_end": null,
"cds_length": 465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956997.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPB7",
"gene_hgnc_id": 5249,
"hgvs_c": "c.139G>A",
"hgvs_p": "p.Val47Met",
"transcript": "ENST00000463576.5",
"protein_id": "ENSP00000417966.1",
"transcript_support_level": 4,
"aa_start": 47,
"aa_end": null,
"aa_length": 124,
"cds_start": 139,
"cds_end": null,
"cds_length": 375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000463576.5"
}
],
"gene_symbol": "HSPB7",
"gene_hgnc_id": 5249,
"dbsnp": "rs148490812",
"frequency_reference_population": 0.0000043379,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000410519,
"gnomad_genomes_af": 0.00000657376,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8794207572937012,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.729,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8827,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.758,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001349682.2",
"gene_symbol": "HSPB7",
"hgnc_id": 5249,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.487G>A",
"hgvs_p": "p.Val163Met"
}
],
"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
}