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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: 7-151086913-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=151086913&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 151086913,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_031946.7",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGAP3",
"gene_hgnc_id": 16923,
"hgvs_c": "c.172C>A",
"hgvs_p": "p.Pro58Thr",
"transcript": "NM_031946.7",
"protein_id": "NP_114152.3",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 911,
"cds_start": 172,
"cds_end": null,
"cds_length": 2736,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000397238.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031946.7"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGAP3",
"gene_hgnc_id": 16923,
"hgvs_c": "c.172C>A",
"hgvs_p": "p.Pro58Thr",
"transcript": "ENST00000397238.7",
"protein_id": "ENSP00000380413.2",
"transcript_support_level": 1,
"aa_start": 58,
"aa_end": null,
"aa_length": 911,
"cds_start": 172,
"cds_end": null,
"cds_length": 2736,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_031946.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397238.7"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGAP3",
"gene_hgnc_id": 16923,
"hgvs_c": "c.172C>A",
"hgvs_p": "p.Pro58Thr",
"transcript": "ENST00000473312.5",
"protein_id": "ENSP00000418921.1",
"transcript_support_level": 1,
"aa_start": 58,
"aa_end": null,
"aa_length": 396,
"cds_start": 172,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000473312.5"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGAP3",
"gene_hgnc_id": 16923,
"hgvs_c": "c.172C>A",
"hgvs_p": "p.Pro58Thr",
"transcript": "ENST00000961568.1",
"protein_id": "ENSP00000631627.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 973,
"cds_start": 172,
"cds_end": null,
"cds_length": 2922,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961568.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGAP3",
"gene_hgnc_id": 16923,
"hgvs_c": "c.172C>A",
"hgvs_p": "p.Pro58Thr",
"transcript": "NM_001350102.2",
"protein_id": "NP_001337031.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 808,
"cds_start": 172,
"cds_end": null,
"cds_length": 2427,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350102.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGAP3",
"gene_hgnc_id": 16923,
"hgvs_c": "c.172C>A",
"hgvs_p": "p.Pro58Thr",
"transcript": "ENST00000961567.1",
"protein_id": "ENSP00000631626.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 786,
"cds_start": 172,
"cds_end": null,
"cds_length": 2361,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961567.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGAP3",
"gene_hgnc_id": 16923,
"hgvs_c": "c.172C>A",
"hgvs_p": "p.Pro58Thr",
"transcript": "ENST00000961566.1",
"protein_id": "ENSP00000631625.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 755,
"cds_start": 172,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961566.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGAP3",
"gene_hgnc_id": 16923,
"hgvs_c": "c.172C>A",
"hgvs_p": "p.Pro58Thr",
"transcript": "NM_001042535.4",
"protein_id": "NP_001036000.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 396,
"cds_start": 172,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042535.4"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGAP3",
"gene_hgnc_id": 16923,
"hgvs_c": "c.172C>A",
"hgvs_p": "p.Pro58Thr",
"transcript": "NM_001308304.2",
"protein_id": "NP_001295233.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 343,
"cds_start": 172,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308304.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGAP3",
"gene_hgnc_id": 16923,
"hgvs_c": "c.172C>A",
"hgvs_p": "p.Pro58Thr",
"transcript": "ENST00000479901.5",
"protein_id": "ENSP00000418125.1",
"transcript_support_level": 5,
"aa_start": 58,
"aa_end": null,
"aa_length": 343,
"cds_start": 172,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000479901.5"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGAP3",
"gene_hgnc_id": 16923,
"hgvs_c": "c.172C>A",
"hgvs_p": "p.Pro58Thr",
"transcript": "XM_047419870.1",
"protein_id": "XP_047275826.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 854,
"cds_start": 172,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419870.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGAP3",
"gene_hgnc_id": 16923,
"hgvs_c": "c.-1093C>A",
"hgvs_p": null,
"transcript": "NM_001350103.2",
"protein_id": "NP_001337032.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 565,
"cds_start": null,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350103.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AGAP3",
"gene_hgnc_id": 16923,
"hgvs_c": "c.-354+904C>A",
"hgvs_p": null,
"transcript": "NM_001281300.2",
"protein_id": "NP_001268229.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 580,
"cds_start": null,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001281300.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AGAP3",
"gene_hgnc_id": 16923,
"hgvs_c": "c.-354+904C>A",
"hgvs_p": null,
"transcript": "ENST00000463381.5",
"protein_id": "ENSP00000418016.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 580,
"cds_start": null,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000463381.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AGAP3",
"gene_hgnc_id": 16923,
"hgvs_c": "c.-934+853C>A",
"hgvs_p": null,
"transcript": "NM_001350104.2",
"protein_id": "NP_001337033.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 462,
"cds_start": null,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350104.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AGAP3",
"gene_hgnc_id": 16923,
"hgvs_c": "n.230+853C>A",
"hgvs_p": null,
"transcript": "ENST00000490097.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000490097.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGAP3",
"gene_hgnc_id": 16923,
"hgvs_c": "c.-156C>A",
"hgvs_p": null,
"transcript": "ENST00000469901.5",
"protein_id": "ENSP00000417151.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 192,
"cds_start": null,
"cds_end": null,
"cds_length": 580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000469901.5"
}
],
"gene_symbol": "AGAP3",
"gene_hgnc_id": 16923,
"dbsnp": "rs750348682",
"frequency_reference_population": 0.000013222441,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0000132224,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2630603611469269,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.25,
"revel_prediction": "Benign",
"alphamissense_score": 0.0695,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.709,
"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_031946.7",
"gene_symbol": "AGAP3",
"hgnc_id": 16923,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.172C>A",
"hgvs_p": "p.Pro58Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}