← Back to variant description
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: 1-156807305-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=156807305&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 156807305,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_003975.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D2A",
"gene_hgnc_id": 10821,
"hgvs_c": "c.1043T>A",
"hgvs_p": "p.Ile348Asn",
"transcript": "NM_003975.4",
"protein_id": "NP_003966.2",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 389,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 1183,
"cdna_end": null,
"cdna_length": 1644,
"mane_select": "ENST00000368199.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D2A",
"gene_hgnc_id": 10821,
"hgvs_c": "c.1043T>A",
"hgvs_p": "p.Ile348Asn",
"transcript": "ENST00000368199.8",
"protein_id": "ENSP00000357182.3",
"transcript_support_level": 1,
"aa_start": 348,
"aa_end": null,
"aa_length": 389,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 1183,
"cdna_end": null,
"cdna_length": 1644,
"mane_select": "NM_003975.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D2A",
"gene_hgnc_id": 10821,
"hgvs_c": "c.1073T>A",
"hgvs_p": "p.Ile358Asn",
"transcript": "ENST00000392306.2",
"protein_id": "ENSP00000376123.2",
"transcript_support_level": 1,
"aa_start": 358,
"aa_end": null,
"aa_length": 399,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 1213,
"cdna_end": null,
"cdna_length": 1673,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D2A",
"gene_hgnc_id": 10821,
"hgvs_c": "c.989T>A",
"hgvs_p": "p.Ile330Asn",
"transcript": "ENST00000368198.8",
"protein_id": "ENSP00000357181.3",
"transcript_support_level": 1,
"aa_start": 330,
"aa_end": null,
"aa_length": 371,
"cds_start": 989,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 1138,
"cdna_end": null,
"cdna_length": 1602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D2A",
"gene_hgnc_id": 10821,
"hgvs_c": "c.1073T>A",
"hgvs_p": "p.Ile358Asn",
"transcript": "NM_001161441.2",
"protein_id": "NP_001154913.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 399,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 1213,
"cdna_end": null,
"cdna_length": 1674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D2A",
"gene_hgnc_id": 10821,
"hgvs_c": "c.1043T>A",
"hgvs_p": "p.Ile348Asn",
"transcript": "NM_001161444.2",
"protein_id": "NP_001154916.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 389,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 1183,
"cdna_end": null,
"cdna_length": 1431,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D2A",
"gene_hgnc_id": 10821,
"hgvs_c": "c.989T>A",
"hgvs_p": "p.Ile330Asn",
"transcript": "NM_001161442.2",
"protein_id": "NP_001154914.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 371,
"cds_start": 989,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 1152,
"cdna_end": null,
"cdna_length": 1613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D2A",
"gene_hgnc_id": 10821,
"hgvs_c": "c.959T>A",
"hgvs_p": "p.Ile320Asn",
"transcript": "NM_001161443.2",
"protein_id": "NP_001154915.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 361,
"cds_start": 959,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1372,
"cdna_end": null,
"cdna_length": 1833,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D2A",
"gene_hgnc_id": 10821,
"hgvs_c": "c.1091T>A",
"hgvs_p": "p.Ile364Asn",
"transcript": "XM_017002762.3",
"protein_id": "XP_016858251.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 405,
"cds_start": 1091,
"cds_end": null,
"cds_length": 1218,
"cdna_start": 1231,
"cdna_end": null,
"cdna_length": 1692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D2A",
"gene_hgnc_id": 10821,
"hgvs_c": "c.1061T>A",
"hgvs_p": "p.Ile354Asn",
"transcript": "XM_006711615.3",
"protein_id": "XP_006711678.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 395,
"cds_start": 1061,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 1201,
"cdna_end": null,
"cdna_length": 1662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D2A",
"gene_hgnc_id": 10821,
"hgvs_c": "c.1031T>A",
"hgvs_p": "p.Ile344Asn",
"transcript": "XM_017002764.3",
"protein_id": "XP_016858253.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 385,
"cds_start": 1031,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 1171,
"cdna_end": null,
"cdna_length": 1632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D2A",
"gene_hgnc_id": 10821,
"hgvs_c": "c.1019T>A",
"hgvs_p": "p.Ile340Asn",
"transcript": "XM_017002765.2",
"protein_id": "XP_016858254.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 381,
"cds_start": 1019,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 1182,
"cdna_end": null,
"cdna_length": 1643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D2A",
"gene_hgnc_id": 10821,
"hgvs_c": "c.1007T>A",
"hgvs_p": "p.Ile336Asn",
"transcript": "XM_017002766.2",
"protein_id": "XP_016858255.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 377,
"cds_start": 1007,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1170,
"cdna_end": null,
"cdna_length": 1631,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D2A",
"gene_hgnc_id": 10821,
"hgvs_c": "c.977T>A",
"hgvs_p": "p.Ile326Asn",
"transcript": "XM_047433655.1",
"protein_id": "XP_047289611.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 367,
"cds_start": 977,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 1140,
"cdna_end": null,
"cdna_length": 1601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D2A",
"gene_hgnc_id": 10821,
"hgvs_c": "c.*1832T>A",
"hgvs_p": null,
"transcript": "XM_047433652.1",
"protein_id": "XP_047289608.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 371,
"cds_start": -4,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4150,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SH2D2A",
"gene_hgnc_id": 10821,
"dbsnp": "rs895411677",
"frequency_reference_population": 0.000006279995,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.0000034717,
"gnomad_genomes_af": 0.000032864,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05830904841423035,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.066,
"revel_prediction": "Benign",
"alphamissense_score": 0.0816,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.245,
"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_003975.4",
"gene_symbol": "SH2D2A",
"hgnc_id": 10821,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1043T>A",
"hgvs_p": "p.Ile348Asn"
}
],
"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
}