← 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: 19-4361713-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=4361713&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 4361713,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_003025.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3GL1",
"gene_hgnc_id": 10830,
"hgvs_c": "c.994G>A",
"hgvs_p": "p.Val332Ile",
"transcript": "NM_003025.4",
"protein_id": "NP_003016.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 368,
"cds_start": 994,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000269886.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003025.4"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3GL1",
"gene_hgnc_id": 10830,
"hgvs_c": "c.994G>A",
"hgvs_p": "p.Val332Ile",
"transcript": "ENST00000269886.7",
"protein_id": "ENSP00000269886.2",
"transcript_support_level": 1,
"aa_start": 332,
"aa_end": null,
"aa_length": 368,
"cds_start": 994,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003025.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000269886.7"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3GL1",
"gene_hgnc_id": 10830,
"hgvs_c": "c.991G>A",
"hgvs_p": "p.Val331Ile",
"transcript": "ENST00000908568.1",
"protein_id": "ENSP00000578627.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 367,
"cds_start": 991,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908568.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3GL1",
"gene_hgnc_id": 10830,
"hgvs_c": "c.955G>A",
"hgvs_p": "p.Val319Ile",
"transcript": "ENST00000945946.1",
"protein_id": "ENSP00000616005.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 355,
"cds_start": 955,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945946.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3GL1",
"gene_hgnc_id": 10830,
"hgvs_c": "c.850G>A",
"hgvs_p": "p.Val284Ile",
"transcript": "NM_001199943.2",
"protein_id": "NP_001186872.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 320,
"cds_start": 850,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199943.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3GL1",
"gene_hgnc_id": 10830,
"hgvs_c": "c.850G>A",
"hgvs_p": "p.Val284Ile",
"transcript": "ENST00000417295.6",
"protein_id": "ENSP00000404568.2",
"transcript_support_level": 2,
"aa_start": 284,
"aa_end": null,
"aa_length": 320,
"cds_start": 850,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000417295.6"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3GL1",
"gene_hgnc_id": 10830,
"hgvs_c": "c.802G>A",
"hgvs_p": "p.Val268Ile",
"transcript": "NM_001199944.2",
"protein_id": "NP_001186873.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 304,
"cds_start": 802,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199944.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3GL1",
"gene_hgnc_id": 10830,
"hgvs_c": "c.802G>A",
"hgvs_p": "p.Val268Ile",
"transcript": "ENST00000598564.5",
"protein_id": "ENSP00000470792.1",
"transcript_support_level": 2,
"aa_start": 268,
"aa_end": null,
"aa_length": 304,
"cds_start": 802,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000598564.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3GL1",
"gene_hgnc_id": 10830,
"hgvs_c": "c.799G>A",
"hgvs_p": "p.Val267Ile",
"transcript": "ENST00000936273.1",
"protein_id": "ENSP00000606332.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 303,
"cds_start": 799,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936273.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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": "SH3GL1",
"gene_hgnc_id": 10830,
"hgvs_c": "c.541G>A",
"hgvs_p": "p.Val181Ile",
"transcript": "ENST00000908569.1",
"protein_id": "ENSP00000578628.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 217,
"cds_start": 541,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908569.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3GL1",
"gene_hgnc_id": 10830,
"hgvs_c": "c.964G>A",
"hgvs_p": "p.Val322Ile",
"transcript": "XM_017027146.2",
"protein_id": "XP_016882635.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 358,
"cds_start": 964,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017027146.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH3GL1",
"gene_hgnc_id": 10830,
"hgvs_c": "c.889G>A",
"hgvs_p": "p.Val297Ile",
"transcript": "XM_047439222.1",
"protein_id": "XP_047295178.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 333,
"cds_start": 889,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439222.1"
}
],
"gene_symbol": "SH3GL1",
"gene_hgnc_id": 10830,
"dbsnp": "rs755032679",
"frequency_reference_population": 0.00012336129,
"hom_count_reference_population": 0,
"allele_count_reference_population": 199,
"gnomad_exomes_af": 0.000127999,
"gnomad_genomes_af": 0.0000788436,
"gnomad_exomes_ac": 187,
"gnomad_genomes_ac": 12,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.02662503719329834,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.07,
"revel_prediction": "Benign",
"alphamissense_score": 0.0549,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.65,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.343,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_003025.4",
"gene_symbol": "SH3GL1",
"hgnc_id": 10830,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.994G>A",
"hgvs_p": "p.Val332Ile"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}