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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: 17-60046222-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=60046222&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 60046222,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_022070.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEATR6",
"gene_hgnc_id": 24076,
"hgvs_c": "c.2777G>A",
"hgvs_p": "p.Ser926Asn",
"transcript": "NM_022070.5",
"protein_id": "NP_071353.4",
"transcript_support_level": null,
"aa_start": 926,
"aa_end": null,
"aa_length": 1181,
"cds_start": 2777,
"cds_end": null,
"cds_length": 3546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000184956.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022070.5"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEATR6",
"gene_hgnc_id": 24076,
"hgvs_c": "c.2777G>A",
"hgvs_p": "p.Ser926Asn",
"transcript": "ENST00000184956.11",
"protein_id": "ENSP00000184956.5",
"transcript_support_level": 1,
"aa_start": 926,
"aa_end": null,
"aa_length": 1181,
"cds_start": 2777,
"cds_end": null,
"cds_length": 3546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022070.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000184956.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEATR6",
"gene_hgnc_id": 24076,
"hgvs_c": "n.*1548G>A",
"hgvs_p": null,
"transcript": "ENST00000587003.5",
"protein_id": "ENSP00000466192.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000587003.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEATR6",
"gene_hgnc_id": 24076,
"hgvs_c": "n.*1548G>A",
"hgvs_p": null,
"transcript": "ENST00000587003.5",
"protein_id": "ENSP00000466192.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000587003.5"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEATR6",
"gene_hgnc_id": 24076,
"hgvs_c": "c.2777G>A",
"hgvs_p": "p.Ser926Asn",
"transcript": "ENST00000863467.1",
"protein_id": "ENSP00000533526.1",
"transcript_support_level": null,
"aa_start": 926,
"aa_end": null,
"aa_length": 1179,
"cds_start": 2777,
"cds_end": null,
"cds_length": 3540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863467.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEATR6",
"gene_hgnc_id": 24076,
"hgvs_c": "c.2738G>A",
"hgvs_p": "p.Ser913Asn",
"transcript": "ENST00000932001.1",
"protein_id": "ENSP00000602060.1",
"transcript_support_level": null,
"aa_start": 913,
"aa_end": null,
"aa_length": 1168,
"cds_start": 2738,
"cds_end": null,
"cds_length": 3507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932001.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEATR6",
"gene_hgnc_id": 24076,
"hgvs_c": "c.2669G>A",
"hgvs_p": "p.Ser890Asn",
"transcript": "ENST00000863469.1",
"protein_id": "ENSP00000533528.1",
"transcript_support_level": null,
"aa_start": 890,
"aa_end": null,
"aa_length": 1145,
"cds_start": 2669,
"cds_end": null,
"cds_length": 3438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863469.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEATR6",
"gene_hgnc_id": 24076,
"hgvs_c": "c.2654G>A",
"hgvs_p": "p.Ser885Asn",
"transcript": "ENST00000932003.1",
"protein_id": "ENSP00000602062.1",
"transcript_support_level": null,
"aa_start": 885,
"aa_end": null,
"aa_length": 1140,
"cds_start": 2654,
"cds_end": null,
"cds_length": 3423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932003.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEATR6",
"gene_hgnc_id": 24076,
"hgvs_c": "c.2642G>A",
"hgvs_p": "p.Ser881Asn",
"transcript": "ENST00000863470.1",
"protein_id": "ENSP00000533529.1",
"transcript_support_level": null,
"aa_start": 881,
"aa_end": null,
"aa_length": 1136,
"cds_start": 2642,
"cds_end": null,
"cds_length": 3411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863470.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEATR6",
"gene_hgnc_id": 24076,
"hgvs_c": "c.2519G>A",
"hgvs_p": "p.Ser840Asn",
"transcript": "ENST00000932002.1",
"protein_id": "ENSP00000602061.1",
"transcript_support_level": null,
"aa_start": 840,
"aa_end": null,
"aa_length": 1095,
"cds_start": 2519,
"cds_end": null,
"cds_length": 3288,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932002.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEATR6",
"gene_hgnc_id": 24076,
"hgvs_c": "c.2441G>A",
"hgvs_p": "p.Ser814Asn",
"transcript": "ENST00000585976.5",
"protein_id": "ENSP00000464927.1",
"transcript_support_level": 5,
"aa_start": 814,
"aa_end": null,
"aa_length": 1069,
"cds_start": 2441,
"cds_end": null,
"cds_length": 3210,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000585976.5"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEATR6",
"gene_hgnc_id": 24076,
"hgvs_c": "c.2300G>A",
"hgvs_p": "p.Ser767Asn",
"transcript": "ENST00000863468.1",
"protein_id": "ENSP00000533527.1",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 1022,
"cds_start": 2300,
"cds_end": null,
"cds_length": 3069,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863468.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HEATR6",
"gene_hgnc_id": 24076,
"hgvs_c": "n.151-123G>A",
"hgvs_p": null,
"transcript": "ENST00000587314.1",
"protein_id": "ENSP00000465540.1",
"transcript_support_level": 3,
"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": "nonsense_mediated_decay",
"feature": "ENST00000587314.1"
}
],
"gene_symbol": "HEATR6",
"gene_hgnc_id": 24076,
"dbsnp": "rs200308045",
"frequency_reference_population": 0.0000075345365,
"hom_count_reference_population": 0,
"allele_count_reference_population": 12,
"gnomad_exomes_af": 0.00000624822,
"gnomad_genomes_af": 0.0000197037,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6824618577957153,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.286,
"revel_prediction": "Benign",
"alphamissense_score": 0.5507,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.22,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.92,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_022070.5",
"gene_symbol": "HEATR6",
"hgnc_id": 24076,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2777G>A",
"hgvs_p": "p.Ser926Asn"
}
],
"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
}