← 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: 19-4361740-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=4361740&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SH3GL1",
"hgnc_id": 10830,
"hgvs_c": "c.967G>A",
"hgvs_p": "p.Gly323Arg",
"inheritance_mode": "AR",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_003025.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 29,
"alphamissense_prediction": null,
"alphamissense_score": 0.8672,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.18,
"chr": "19",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.764324426651001,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 368,
"aa_ref": "G",
"aa_start": 323,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2516,
"cdna_start": 1146,
"cds_end": null,
"cds_length": 1107,
"cds_start": 967,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_003025.4",
"gene_hgnc_id": 10830,
"gene_symbol": "SH3GL1",
"hgvs_c": "c.967G>A",
"hgvs_p": "p.Gly323Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000269886.7",
"protein_coding": true,
"protein_id": "NP_003016.1",
"strand": false,
"transcript": "NM_003025.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 368,
"aa_ref": "G",
"aa_start": 323,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2516,
"cdna_start": 1146,
"cds_end": null,
"cds_length": 1107,
"cds_start": 967,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000269886.7",
"gene_hgnc_id": 10830,
"gene_symbol": "SH3GL1",
"hgvs_c": "c.967G>A",
"hgvs_p": "p.Gly323Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003025.4",
"protein_coding": true,
"protein_id": "ENSP00000269886.2",
"strand": false,
"transcript": "ENST00000269886.7",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 367,
"aa_ref": "G",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2468,
"cdna_start": 1095,
"cds_end": null,
"cds_length": 1104,
"cds_start": 964,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000908568.1",
"gene_hgnc_id": 10830,
"gene_symbol": "SH3GL1",
"hgvs_c": "c.964G>A",
"hgvs_p": "p.Gly322Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578627.1",
"strand": false,
"transcript": "ENST00000908568.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 355,
"aa_ref": "G",
"aa_start": 310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2464,
"cdna_start": 1095,
"cds_end": null,
"cds_length": 1068,
"cds_start": 928,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000945946.1",
"gene_hgnc_id": 10830,
"gene_symbol": "SH3GL1",
"hgvs_c": "c.928G>A",
"hgvs_p": "p.Gly310Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616005.1",
"strand": false,
"transcript": "ENST00000945946.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 320,
"aa_ref": "G",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2372,
"cdna_start": 1002,
"cds_end": null,
"cds_length": 963,
"cds_start": 823,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001199943.2",
"gene_hgnc_id": 10830,
"gene_symbol": "SH3GL1",
"hgvs_c": "c.823G>A",
"hgvs_p": "p.Gly275Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001186872.1",
"strand": false,
"transcript": "NM_001199943.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 320,
"aa_ref": "G",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1404,
"cdna_start": 980,
"cds_end": null,
"cds_length": 963,
"cds_start": 823,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000417295.6",
"gene_hgnc_id": 10830,
"gene_symbol": "SH3GL1",
"hgvs_c": "c.823G>A",
"hgvs_p": "p.Gly275Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000404568.2",
"strand": false,
"transcript": "ENST00000417295.6",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 304,
"aa_ref": "G",
"aa_start": 259,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2324,
"cdna_start": 954,
"cds_end": null,
"cds_length": 915,
"cds_start": 775,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001199944.2",
"gene_hgnc_id": 10830,
"gene_symbol": "SH3GL1",
"hgvs_c": "c.775G>A",
"hgvs_p": "p.Gly259Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001186873.1",
"strand": false,
"transcript": "NM_001199944.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 304,
"aa_ref": "G",
"aa_start": 259,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2194,
"cdna_start": 825,
"cds_end": null,
"cds_length": 915,
"cds_start": 775,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000598564.5",
"gene_hgnc_id": 10830,
"gene_symbol": "SH3GL1",
"hgvs_c": "c.775G>A",
"hgvs_p": "p.Gly259Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000470792.1",
"strand": false,
"transcript": "ENST00000598564.5",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 303,
"aa_ref": "G",
"aa_start": 258,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2293,
"cdna_start": 923,
"cds_end": null,
"cds_length": 912,
"cds_start": 772,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000936273.1",
"gene_hgnc_id": 10830,
"gene_symbol": "SH3GL1",
"hgvs_c": "c.772G>A",
"hgvs_p": "p.Gly258Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606332.1",
"strand": false,
"transcript": "ENST00000936273.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 217,
"aa_ref": "G",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1919,
"cdna_start": 550,
"cds_end": null,
"cds_length": 654,
"cds_start": 514,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000908569.1",
"gene_hgnc_id": 10830,
"gene_symbol": "SH3GL1",
"hgvs_c": "c.514G>A",
"hgvs_p": "p.Gly172Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578628.1",
"strand": false,
"transcript": "ENST00000908569.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 358,
"aa_ref": "G",
"aa_start": 313,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3163,
"cdna_start": 1793,
"cds_end": null,
"cds_length": 1077,
"cds_start": 937,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_017027146.2",
"gene_hgnc_id": 10830,
"gene_symbol": "SH3GL1",
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Gly313Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016882635.1",
"strand": false,
"transcript": "XM_017027146.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 333,
"aa_ref": "G",
"aa_start": 288,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2678,
"cdna_start": 1308,
"cds_end": null,
"cds_length": 1002,
"cds_start": 862,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047439222.1",
"gene_hgnc_id": 10830,
"gene_symbol": "SH3GL1",
"hgvs_c": "c.862G>A",
"hgvs_p": "p.Gly288Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047295178.1",
"strand": false,
"transcript": "XM_047439222.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs200448085",
"effect": "missense_variant",
"frequency_reference_population": 0.000017979635,
"gene_hgnc_id": 10830,
"gene_symbol": "SH3GL1",
"gnomad_exomes_ac": 26,
"gnomad_exomes_af": 0.0000178007,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 3,
"gnomad_genomes_af": 0.0000196959,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 5.983,
"pos": 4361740,
"ref": "C",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.479,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_003025.4"
}
]
}