← 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: 1-156809396-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=156809396&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 156809396,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_003975.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "G",
"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.809C>G",
"hgvs_p": "p.Ala270Gly",
"transcript": "NM_003975.4",
"protein_id": "NP_003966.2",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 389,
"cds_start": 809,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 949,
"cdna_end": null,
"cdna_length": 1644,
"mane_select": "ENST00000368199.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"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.809C>G",
"hgvs_p": "p.Ala270Gly",
"transcript": "ENST00000368199.8",
"protein_id": "ENSP00000357182.3",
"transcript_support_level": 1,
"aa_start": 270,
"aa_end": null,
"aa_length": 389,
"cds_start": 809,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 949,
"cdna_end": null,
"cdna_length": 1644,
"mane_select": "NM_003975.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"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.839C>G",
"hgvs_p": "p.Ala280Gly",
"transcript": "ENST00000392306.2",
"protein_id": "ENSP00000376123.2",
"transcript_support_level": 1,
"aa_start": 280,
"aa_end": null,
"aa_length": 399,
"cds_start": 839,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 979,
"cdna_end": null,
"cdna_length": 1673,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"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.755C>G",
"hgvs_p": "p.Ala252Gly",
"transcript": "ENST00000368198.8",
"protein_id": "ENSP00000357181.3",
"transcript_support_level": 1,
"aa_start": 252,
"aa_end": null,
"aa_length": 371,
"cds_start": 755,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 904,
"cdna_end": null,
"cdna_length": 1602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"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.839C>G",
"hgvs_p": "p.Ala280Gly",
"transcript": "NM_001161441.2",
"protein_id": "NP_001154913.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 399,
"cds_start": 839,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 979,
"cdna_end": null,
"cdna_length": 1674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"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.809C>G",
"hgvs_p": "p.Ala270Gly",
"transcript": "NM_001161444.2",
"protein_id": "NP_001154916.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 389,
"cds_start": 809,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 949,
"cdna_end": null,
"cdna_length": 1431,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"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.755C>G",
"hgvs_p": "p.Ala252Gly",
"transcript": "NM_001161442.2",
"protein_id": "NP_001154914.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 371,
"cds_start": 755,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 918,
"cdna_end": null,
"cdna_length": 1613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"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.725C>G",
"hgvs_p": "p.Ala242Gly",
"transcript": "NM_001161443.2",
"protein_id": "NP_001154915.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 361,
"cds_start": 725,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1138,
"cdna_end": null,
"cdna_length": 1833,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"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.857C>G",
"hgvs_p": "p.Ala286Gly",
"transcript": "XM_017002762.3",
"protein_id": "XP_016858251.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 405,
"cds_start": 857,
"cds_end": null,
"cds_length": 1218,
"cdna_start": 997,
"cdna_end": null,
"cdna_length": 1692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"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.827C>G",
"hgvs_p": "p.Ala276Gly",
"transcript": "XM_006711615.3",
"protein_id": "XP_006711678.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 395,
"cds_start": 827,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 967,
"cdna_end": null,
"cdna_length": 1662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"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.797C>G",
"hgvs_p": "p.Ala266Gly",
"transcript": "XM_017002764.3",
"protein_id": "XP_016858253.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 385,
"cds_start": 797,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 937,
"cdna_end": null,
"cdna_length": 1632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"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.785C>G",
"hgvs_p": "p.Ala262Gly",
"transcript": "XM_017002765.2",
"protein_id": "XP_016858254.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 381,
"cds_start": 785,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 948,
"cdna_end": null,
"cdna_length": 1643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"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.773C>G",
"hgvs_p": "p.Ala258Gly",
"transcript": "XM_017002766.2",
"protein_id": "XP_016858255.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 377,
"cds_start": 773,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 936,
"cdna_end": null,
"cdna_length": 1631,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"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.857C>G",
"hgvs_p": "p.Ala286Gly",
"transcript": "XM_047433652.1",
"protein_id": "XP_047289608.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 371,
"cds_start": 857,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 997,
"cdna_end": null,
"cdna_length": 4150,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"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.743C>G",
"hgvs_p": "p.Ala248Gly",
"transcript": "XM_047433655.1",
"protein_id": "XP_047289611.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 367,
"cds_start": 743,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 906,
"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.506C>G",
"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": "rs546031119",
"frequency_reference_population": 6.8416114e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84161e-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": 0.1115776002407074,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.069,
"revel_prediction": "Benign",
"alphamissense_score": 0.0961,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.044,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_003975.4",
"gene_symbol": "SH2D2A",
"hgnc_id": 10821,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.809C>G",
"hgvs_p": "p.Ala270Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}