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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: 1-16015645-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=16015645&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 16015645,
"ref": "G",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001349682.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.448C>A",
"hgvs_p": "p.Arg150Arg",
"transcript": "NM_014424.5",
"protein_id": "NP_055239.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 170,
"cds_start": 448,
"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": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.448C>A",
"hgvs_p": "p.Arg150Arg",
"transcript": "ENST00000311890.14",
"protein_id": "ENSP00000310111.9",
"transcript_support_level": 1,
"aa_start": 150,
"aa_end": null,
"aa_length": 170,
"cds_start": 448,
"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": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.463C>A",
"hgvs_p": "p.Arg155Arg",
"transcript": "ENST00000487046.1",
"protein_id": "ENSP00000419477.1",
"transcript_support_level": 1,
"aa_start": 155,
"aa_end": null,
"aa_length": 175,
"cds_start": 463,
"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": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.460C>A",
"hgvs_p": "p.Arg154Arg",
"transcript": "ENST00000406363.2",
"protein_id": "ENSP00000385472.2",
"transcript_support_level": 1,
"aa_start": 154,
"aa_end": null,
"aa_length": 174,
"cds_start": 460,
"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": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.433C>A",
"hgvs_p": "p.Arg145Arg",
"transcript": "ENST00000411503.5",
"protein_id": "ENSP00000391578.1",
"transcript_support_level": 1,
"aa_start": 145,
"aa_end": null,
"aa_length": 165,
"cds_start": 433,
"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": 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.1085C>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": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.673C>A",
"hgvs_p": "p.Arg225Arg",
"transcript": "NM_001349682.2",
"protein_id": "NP_001336611.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 245,
"cds_start": 673,
"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": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.673C>A",
"hgvs_p": "p.Arg225Arg",
"transcript": "ENST00000375718.4",
"protein_id": "ENSP00000364870.4",
"transcript_support_level": 2,
"aa_start": 225,
"aa_end": null,
"aa_length": 245,
"cds_start": 673,
"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": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.463C>A",
"hgvs_p": "p.Arg155Arg",
"transcript": "NM_001349689.2",
"protein_id": "NP_001336618.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 175,
"cds_start": 463,
"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": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.463C>A",
"hgvs_p": "p.Arg155Arg",
"transcript": "ENST00000956995.1",
"protein_id": "ENSP00000627054.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 175,
"cds_start": 463,
"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": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.460C>A",
"hgvs_p": "p.Arg154Arg",
"transcript": "NM_001349683.2",
"protein_id": "NP_001336612.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 174,
"cds_start": 460,
"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": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.448C>A",
"hgvs_p": "p.Arg150Arg",
"transcript": "ENST00000861615.1",
"protein_id": "ENSP00000531674.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 170,
"cds_start": 448,
"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": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.445C>A",
"hgvs_p": "p.Arg149Arg",
"transcript": "NM_001349688.2",
"protein_id": "NP_001336617.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 169,
"cds_start": 445,
"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": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.433C>A",
"hgvs_p": "p.Arg145Arg",
"transcript": "NM_001349687.2",
"protein_id": "NP_001336616.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 165,
"cds_start": 433,
"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": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.430C>A",
"hgvs_p": "p.Arg144Arg",
"transcript": "NM_001349685.2",
"protein_id": "NP_001336614.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 164,
"cds_start": 430,
"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": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.421C>A",
"hgvs_p": "p.Arg141Arg",
"transcript": "ENST00000956996.1",
"protein_id": "ENSP00000627055.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 161,
"cds_start": 421,
"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": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.418C>A",
"hgvs_p": "p.Arg140Arg",
"transcript": "ENST00000861616.1",
"protein_id": "ENSP00000531675.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 160,
"cds_start": 418,
"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": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.406C>A",
"hgvs_p": "p.Arg136Arg",
"transcript": "NM_001349686.2",
"protein_id": "NP_001336615.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 156,
"cds_start": 406,
"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": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.400C>A",
"hgvs_p": "p.Arg134Arg",
"transcript": "ENST00000956997.1",
"protein_id": "ENSP00000627056.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 154,
"cds_start": 400,
"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": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.310C>A",
"hgvs_p": "p.Arg104Arg",
"transcript": "ENST00000463576.5",
"protein_id": "ENSP00000417966.1",
"transcript_support_level": 4,
"aa_start": 104,
"aa_end": null,
"aa_length": 124,
"cds_start": 310,
"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": "rs764260228",
"frequency_reference_population": 0.0000065713384,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000657134,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.36000001430511475,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"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": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.669,
"phylop100way_prediction": "Benign",
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001349682.2",
"gene_symbol": "HSPB7",
"hgnc_id": 5249,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.673C>A",
"hgvs_p": "p.Arg225Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}