← 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: 4-185823620-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=185823620&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 185823620,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_001394248.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SORBS2",
"gene_hgnc_id": 24098,
"hgvs_c": "c.-337-48254A>G",
"hgvs_p": null,
"transcript": "ENST00000284776.11",
"protein_id": "ENSP00000284776.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1100,
"cds_start": -4,
"cds_end": null,
"cds_length": 3303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5996,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SORBS2",
"gene_hgnc_id": 24098,
"hgvs_c": "n.154-48254A>G",
"hgvs_p": null,
"transcript": "ENST00000469627.1",
"protein_id": null,
"transcript_support_level": 1,
"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": 1575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SORBS2",
"gene_hgnc_id": 24098,
"hgvs_c": "c.-176-48254A>G",
"hgvs_p": null,
"transcript": "ENST00000421420.6",
"protein_id": "ENSP00000393258.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 1572,
"cds_start": -4,
"cds_end": null,
"cds_length": 4719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7159,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SORBS2",
"gene_hgnc_id": 24098,
"hgvs_c": "c.-172-48254A>G",
"hgvs_p": null,
"transcript": "NM_001394248.1",
"protein_id": "NP_001381177.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1244,
"cds_start": -4,
"cds_end": null,
"cds_length": 3735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6188,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SORBS2",
"gene_hgnc_id": 24098,
"hgvs_c": "c.-180-48254A>G",
"hgvs_p": null,
"transcript": "NM_001270771.3",
"protein_id": "NP_001257700.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1200,
"cds_start": -4,
"cds_end": null,
"cds_length": 3603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6141,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SORBS2",
"gene_hgnc_id": 24098,
"hgvs_c": "c.-180-48254A>G",
"hgvs_p": null,
"transcript": "ENST00000355634.9",
"protein_id": "ENSP00000347852.5",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1200,
"cds_start": -4,
"cds_end": null,
"cds_length": 3603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SORBS2",
"gene_hgnc_id": 24098,
"hgvs_c": "c.-168-48254A>G",
"hgvs_p": null,
"transcript": "NM_001394255.1",
"protein_id": "NP_001381184.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1186,
"cds_start": -4,
"cds_end": null,
"cds_length": 3561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SORBS2",
"gene_hgnc_id": 24098,
"hgvs_c": "c.-172-48254A>G",
"hgvs_p": null,
"transcript": "NM_001394257.1",
"protein_id": "NP_001381186.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1186,
"cds_start": -4,
"cds_end": null,
"cds_length": 3561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6014,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SORBS2",
"gene_hgnc_id": 24098,
"hgvs_c": "c.-172-48254A>G",
"hgvs_p": null,
"transcript": "NM_001394262.1",
"protein_id": "NP_001381191.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1163,
"cds_start": -4,
"cds_end": null,
"cds_length": 3492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SORBS2",
"gene_hgnc_id": 24098,
"hgvs_c": "c.-337-48254A>G",
"hgvs_p": null,
"transcript": "NM_001394264.1",
"protein_id": "NP_001381193.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1138,
"cds_start": -4,
"cds_end": null,
"cds_length": 3417,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6035,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SORBS2",
"gene_hgnc_id": 24098,
"hgvs_c": "c.-268-48254A>G",
"hgvs_p": null,
"transcript": "NM_001394266.1",
"protein_id": "NP_001381195.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1100,
"cds_start": -4,
"cds_end": null,
"cds_length": 3303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5868,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SORBS2",
"gene_hgnc_id": 24098,
"hgvs_c": "c.-268-48254A>G",
"hgvs_p": null,
"transcript": "NM_001394267.1",
"protein_id": "NP_001381196.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1100,
"cds_start": -4,
"cds_end": null,
"cds_length": 3303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5852,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SORBS2",
"gene_hgnc_id": 24098,
"hgvs_c": "c.-337-48254A>G",
"hgvs_p": null,
"transcript": "NM_001394268.1",
"protein_id": "NP_001381197.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1100,
"cds_start": -4,
"cds_end": null,
"cds_length": 3303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5937,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SORBS2",
"gene_hgnc_id": 24098,
"hgvs_c": "c.-337-48254A>G",
"hgvs_p": null,
"transcript": "NM_021069.6",
"protein_id": "NP_066547.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1100,
"cds_start": -4,
"cds_end": null,
"cds_length": 3303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5921,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SORBS2",
"gene_hgnc_id": 24098,
"hgvs_c": "c.-172-48254A>G",
"hgvs_p": null,
"transcript": "ENST00000444781.5",
"protein_id": "ENSP00000396183.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 99,
"cds_start": -4,
"cds_end": null,
"cds_length": 300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 611,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SORBS2",
"gene_hgnc_id": 24098,
"hgvs_c": "c.-180-48254A>G",
"hgvs_p": null,
"transcript": "ENST00000432655.5",
"protein_id": "ENSP00000407006.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 86,
"cds_start": -4,
"cds_end": null,
"cds_length": 263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SORBS2",
"gene_hgnc_id": 24098,
"hgvs_c": "c.-168-48254A>G",
"hgvs_p": null,
"transcript": "ENST00000431902.5",
"protein_id": "ENSP00000405432.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 79,
"cds_start": -4,
"cds_end": null,
"cds_length": 241,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SORBS2",
"gene_hgnc_id": 24098,
"hgvs_c": "c.-172-48254A>G",
"hgvs_p": null,
"transcript": "ENST00000415274.5",
"protein_id": "ENSP00000415392.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 79,
"cds_start": -4,
"cds_end": null,
"cds_length": 240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 626,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SORBS2",
"gene_hgnc_id": 24098,
"hgvs_c": "n.174-48254A>G",
"hgvs_p": null,
"transcript": "ENST00000476878.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SORBS2",
"gene_hgnc_id": 24098,
"hgvs_c": "n.513-48254A>G",
"hgvs_p": null,
"transcript": "ENST00000488562.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SORBS2",
"gene_hgnc_id": 24098,
"hgvs_c": "n.178-48254A>G",
"hgvs_p": null,
"transcript": "ENST00000698538.1",
"protein_id": null,
"transcript_support_level": null,
"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": 8469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SORBS2",
"gene_hgnc_id": 24098,
"dbsnp": "rs13132552",
"frequency_reference_population": 0.6559485,
"hom_count_reference_population": 32994,
"allele_count_reference_population": 99266,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.655949,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 99266,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 32994,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8700000047683716,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.87,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.103,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001394248.1",
"gene_symbol": "SORBS2",
"hgnc_id": 24098,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.-172-48254A>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}