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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: 1-156809262-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=156809262&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 156809262,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000368199.8",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D2A",
"gene_hgnc_id": 10821,
"hgvs_c": "c.943G>A",
"hgvs_p": "p.Ala315Thr",
"transcript": "NM_003975.4",
"protein_id": "NP_003966.2",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 389,
"cds_start": 943,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 1083,
"cdna_end": null,
"cdna_length": 1644,
"mane_select": "ENST00000368199.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D2A",
"gene_hgnc_id": 10821,
"hgvs_c": "c.943G>A",
"hgvs_p": "p.Ala315Thr",
"transcript": "ENST00000368199.8",
"protein_id": "ENSP00000357182.3",
"transcript_support_level": 1,
"aa_start": 315,
"aa_end": null,
"aa_length": 389,
"cds_start": 943,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 1083,
"cdna_end": null,
"cdna_length": 1644,
"mane_select": "NM_003975.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D2A",
"gene_hgnc_id": 10821,
"hgvs_c": "c.973G>A",
"hgvs_p": "p.Ala325Thr",
"transcript": "ENST00000392306.2",
"protein_id": "ENSP00000376123.2",
"transcript_support_level": 1,
"aa_start": 325,
"aa_end": null,
"aa_length": 399,
"cds_start": 973,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 1113,
"cdna_end": null,
"cdna_length": 1673,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D2A",
"gene_hgnc_id": 10821,
"hgvs_c": "c.889G>A",
"hgvs_p": "p.Ala297Thr",
"transcript": "ENST00000368198.8",
"protein_id": "ENSP00000357181.3",
"transcript_support_level": 1,
"aa_start": 297,
"aa_end": null,
"aa_length": 371,
"cds_start": 889,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 1038,
"cdna_end": null,
"cdna_length": 1602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D2A",
"gene_hgnc_id": 10821,
"hgvs_c": "c.973G>A",
"hgvs_p": "p.Ala325Thr",
"transcript": "NM_001161441.2",
"protein_id": "NP_001154913.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 399,
"cds_start": 973,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 1113,
"cdna_end": null,
"cdna_length": 1674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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.943G>A",
"hgvs_p": "p.Ala315Thr",
"transcript": "NM_001161444.2",
"protein_id": "NP_001154916.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 389,
"cds_start": 943,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 1083,
"cdna_end": null,
"cdna_length": 1431,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D2A",
"gene_hgnc_id": 10821,
"hgvs_c": "c.889G>A",
"hgvs_p": "p.Ala297Thr",
"transcript": "NM_001161442.2",
"protein_id": "NP_001154914.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 371,
"cds_start": 889,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 1052,
"cdna_end": null,
"cdna_length": 1613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D2A",
"gene_hgnc_id": 10821,
"hgvs_c": "c.859G>A",
"hgvs_p": "p.Ala287Thr",
"transcript": "NM_001161443.2",
"protein_id": "NP_001154915.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 361,
"cds_start": 859,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1272,
"cdna_end": null,
"cdna_length": 1833,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D2A",
"gene_hgnc_id": 10821,
"hgvs_c": "c.991G>A",
"hgvs_p": "p.Ala331Thr",
"transcript": "XM_017002762.3",
"protein_id": "XP_016858251.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 405,
"cds_start": 991,
"cds_end": null,
"cds_length": 1218,
"cdna_start": 1131,
"cdna_end": null,
"cdna_length": 1692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D2A",
"gene_hgnc_id": 10821,
"hgvs_c": "c.961G>A",
"hgvs_p": "p.Ala321Thr",
"transcript": "XM_006711615.3",
"protein_id": "XP_006711678.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 395,
"cds_start": 961,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 1101,
"cdna_end": null,
"cdna_length": 1662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D2A",
"gene_hgnc_id": 10821,
"hgvs_c": "c.931G>A",
"hgvs_p": "p.Ala311Thr",
"transcript": "XM_017002764.3",
"protein_id": "XP_016858253.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 385,
"cds_start": 931,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 1071,
"cdna_end": null,
"cdna_length": 1632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D2A",
"gene_hgnc_id": 10821,
"hgvs_c": "c.919G>A",
"hgvs_p": "p.Ala307Thr",
"transcript": "XM_017002765.2",
"protein_id": "XP_016858254.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 381,
"cds_start": 919,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 1082,
"cdna_end": null,
"cdna_length": 1643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D2A",
"gene_hgnc_id": 10821,
"hgvs_c": "c.907G>A",
"hgvs_p": "p.Ala303Thr",
"transcript": "XM_017002766.2",
"protein_id": "XP_016858255.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 377,
"cds_start": 907,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1070,
"cdna_end": null,
"cdna_length": 1631,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.991G>A",
"hgvs_p": "p.Ala331Thr",
"transcript": "XM_047433652.1",
"protein_id": "XP_047289608.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 371,
"cds_start": 991,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 1131,
"cdna_end": null,
"cdna_length": 4150,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D2A",
"gene_hgnc_id": 10821,
"hgvs_c": "c.877G>A",
"hgvs_p": "p.Ala293Thr",
"transcript": "XM_047433655.1",
"protein_id": "XP_047289611.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 367,
"cds_start": 877,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 1040,
"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": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D2A",
"gene_hgnc_id": 10821,
"hgvs_c": "n.640G>A",
"hgvs_p": null,
"transcript": "ENST00000468744.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SH2D2A",
"gene_hgnc_id": 10821,
"dbsnp": "rs147765972",
"frequency_reference_population": 0.000042753843,
"hom_count_reference_population": 0,
"allele_count_reference_population": 69,
"gnomad_exomes_af": 0.000041732,
"gnomad_genomes_af": 0.0000525686,
"gnomad_exomes_ac": 61,
"gnomad_genomes_ac": 8,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.030714064836502075,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.049,
"revel_prediction": "Benign",
"alphamissense_score": 0.0717,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.72,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.742,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000368199.8",
"gene_symbol": "SH2D2A",
"hgnc_id": 10821,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.943G>A",
"hgvs_p": "p.Ala315Thr"
}
],
"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
}