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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: 17-29631203-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=29631203&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 29631203,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001282129.2",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSH2",
"gene_hgnc_id": 30580,
"hgvs_c": "c.3991G>A",
"hgvs_p": "p.Asp1331Asn",
"transcript": "NM_001282129.2",
"protein_id": "NP_001269058.1",
"transcript_support_level": null,
"aa_start": 1331,
"aa_end": null,
"aa_length": 1450,
"cds_start": 3991,
"cds_end": null,
"cds_length": 4353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000540801.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282129.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSH2",
"gene_hgnc_id": 30580,
"hgvs_c": "c.3991G>A",
"hgvs_p": "p.Asp1331Asn",
"transcript": "ENST00000540801.6",
"protein_id": "ENSP00000444743.1",
"transcript_support_level": 2,
"aa_start": 1331,
"aa_end": null,
"aa_length": 1450,
"cds_start": 3991,
"cds_end": null,
"cds_length": 4353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001282129.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540801.6"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSH2",
"gene_hgnc_id": 30580,
"hgvs_c": "c.3910G>A",
"hgvs_p": "p.Asp1304Asn",
"transcript": "ENST00000269033.7",
"protein_id": "ENSP00000269033.3",
"transcript_support_level": 1,
"aa_start": 1304,
"aa_end": null,
"aa_length": 1423,
"cds_start": 3910,
"cds_end": null,
"cds_length": 4272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000269033.7"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSH2",
"gene_hgnc_id": 30580,
"hgvs_c": "c.3928G>A",
"hgvs_p": "p.Asp1310Asn",
"transcript": "ENST00000649863.1",
"protein_id": "ENSP00000497148.1",
"transcript_support_level": null,
"aa_start": 1310,
"aa_end": null,
"aa_length": 1429,
"cds_start": 3928,
"cds_end": null,
"cds_length": 4290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649863.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSH2",
"gene_hgnc_id": 30580,
"hgvs_c": "c.3910G>A",
"hgvs_p": "p.Asp1304Asn",
"transcript": "NM_033389.3",
"protein_id": "NP_203747.2",
"transcript_support_level": null,
"aa_start": 1304,
"aa_end": null,
"aa_length": 1423,
"cds_start": 3910,
"cds_end": null,
"cds_length": 4272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033389.3"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSH2",
"gene_hgnc_id": 30580,
"hgvs_c": "c.280G>A",
"hgvs_p": "p.Asp94Asn",
"transcript": "ENST00000577991.1",
"protein_id": "ENSP00000465703.1",
"transcript_support_level": 2,
"aa_start": 94,
"aa_end": null,
"aa_length": 115,
"cds_start": 280,
"cds_end": null,
"cds_length": 348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000577991.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSH2",
"gene_hgnc_id": 30580,
"hgvs_c": "c.3991G>A",
"hgvs_p": "p.Asp1331Asn",
"transcript": "XM_005258058.4",
"protein_id": "XP_005258115.1",
"transcript_support_level": null,
"aa_start": 1331,
"aa_end": null,
"aa_length": 1450,
"cds_start": 3991,
"cds_end": null,
"cds_length": 4353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005258058.4"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSH2",
"gene_hgnc_id": 30580,
"hgvs_c": "c.3931G>A",
"hgvs_p": "p.Asp1311Asn",
"transcript": "XM_005258059.3",
"protein_id": "XP_005258116.1",
"transcript_support_level": null,
"aa_start": 1311,
"aa_end": null,
"aa_length": 1430,
"cds_start": 3931,
"cds_end": null,
"cds_length": 4293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005258059.3"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSH2",
"gene_hgnc_id": 30580,
"hgvs_c": "c.3910G>A",
"hgvs_p": "p.Asp1304Asn",
"transcript": "XM_047436967.1",
"protein_id": "XP_047292923.1",
"transcript_support_level": null,
"aa_start": 1304,
"aa_end": null,
"aa_length": 1423,
"cds_start": 3910,
"cds_end": null,
"cds_length": 4272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436967.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSH2",
"gene_hgnc_id": 30580,
"hgvs_c": "c.3856G>A",
"hgvs_p": "p.Asp1286Asn",
"transcript": "XM_011525404.3",
"protein_id": "XP_011523706.1",
"transcript_support_level": null,
"aa_start": 1286,
"aa_end": null,
"aa_length": 1405,
"cds_start": 3856,
"cds_end": null,
"cds_length": 4218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525404.3"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSH2",
"gene_hgnc_id": 30580,
"hgvs_c": "c.3844G>A",
"hgvs_p": "p.Asp1282Asn",
"transcript": "XM_006722149.5",
"protein_id": "XP_006722212.1",
"transcript_support_level": null,
"aa_start": 1282,
"aa_end": null,
"aa_length": 1401,
"cds_start": 3844,
"cds_end": null,
"cds_length": 4206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006722149.5"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSH2",
"gene_hgnc_id": 30580,
"hgvs_c": "c.3823G>A",
"hgvs_p": "p.Asp1275Asn",
"transcript": "XM_047436968.1",
"protein_id": "XP_047292924.1",
"transcript_support_level": null,
"aa_start": 1275,
"aa_end": null,
"aa_length": 1394,
"cds_start": 3823,
"cds_end": null,
"cds_length": 4185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436968.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSH2",
"gene_hgnc_id": 30580,
"hgvs_c": "c.3682G>A",
"hgvs_p": "p.Asp1228Asn",
"transcript": "XM_011525407.1",
"protein_id": "XP_011523709.1",
"transcript_support_level": null,
"aa_start": 1228,
"aa_end": null,
"aa_length": 1347,
"cds_start": 3682,
"cds_end": null,
"cds_length": 4044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525407.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSH2",
"gene_hgnc_id": 30580,
"hgvs_c": "c.3682G>A",
"hgvs_p": "p.Asp1228Asn",
"transcript": "XM_047436969.1",
"protein_id": "XP_047292925.1",
"transcript_support_level": null,
"aa_start": 1228,
"aa_end": null,
"aa_length": 1347,
"cds_start": 3682,
"cds_end": null,
"cds_length": 4044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436969.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"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": "SSH2",
"gene_hgnc_id": 30580,
"hgvs_c": "c.2593G>A",
"hgvs_p": "p.Asp865Asn",
"transcript": "XM_005258060.4",
"protein_id": "XP_005258117.1",
"transcript_support_level": null,
"aa_start": 865,
"aa_end": null,
"aa_length": 984,
"cds_start": 2593,
"cds_end": null,
"cds_length": 2955,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005258060.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ABHD15-AS1",
"gene_hgnc_id": 49685,
"hgvs_c": "n.153+70504C>T",
"hgvs_p": null,
"transcript": "ENST00000581474.1",
"protein_id": null,
"transcript_support_level": 5,
"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": "pseudogene",
"feature": "ENST00000581474.1"
}
],
"gene_symbol": "SSH2",
"gene_hgnc_id": 30580,
"dbsnp": "rs1490097445",
"frequency_reference_population": 6.840797e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.8408e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04512932896614075,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.097,
"revel_prediction": "Benign",
"alphamissense_score": 0.0685,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.75,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.006,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001282129.2",
"gene_symbol": "SSH2",
"hgnc_id": 30580,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3991G>A",
"hgvs_p": "p.Asp1331Asn"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000581474.1",
"gene_symbol": "ABHD15-AS1",
"hgnc_id": 49685,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.153+70504C>T",
"hgvs_p": null
}
],
"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
}