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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: 9-95476040-GGAGAACGCCCGCA-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=95476040&ref=GGAGAACGCCCGCA&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 95476040,
"ref": "GGAGAACGCCCGCA",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "ENST00000331920.11",
"consequences": [
{
"aa_ref": "LRAFS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "c.1709_1721delTGCGGGCGTTCTC",
"hgvs_p": "p.Leu570fs",
"transcript": "NM_000264.5",
"protein_id": "NP_000255.2",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 1447,
"cds_start": 1709,
"cds_end": null,
"cds_length": 4344,
"cdna_start": 2626,
"cdna_end": null,
"cdna_length": 8662,
"mane_select": "ENST00000331920.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LRAFS",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "c.1709_1721delTGCGGGCGTTCTC",
"hgvs_p": "p.Leu570fs",
"transcript": "ENST00000331920.11",
"protein_id": "ENSP00000332353.6",
"transcript_support_level": 5,
"aa_start": 570,
"aa_end": null,
"aa_length": 1447,
"cds_start": 1709,
"cds_end": null,
"cds_length": 4344,
"cdna_start": 2626,
"cdna_end": null,
"cdna_length": 8662,
"mane_select": "NM_000264.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LRAFS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "c.1706_1718delTGCGGGCGTTCTC",
"hgvs_p": "p.Leu569fs",
"transcript": "NM_001083603.3",
"protein_id": "NP_001077072.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 1446,
"cds_start": 1706,
"cds_end": null,
"cds_length": 4341,
"cdna_start": 1869,
"cdna_end": null,
"cdna_length": 7905,
"mane_select": null,
"mane_plus": "ENST00000437951.6",
"biotype": null,
"feature": null
},
{
"aa_ref": "LRAFS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "c.1706_1718delTGCGGGCGTTCTC",
"hgvs_p": "p.Leu569fs",
"transcript": "ENST00000437951.6",
"protein_id": "ENSP00000389744.2",
"transcript_support_level": 5,
"aa_start": 569,
"aa_end": null,
"aa_length": 1446,
"cds_start": 1706,
"cds_end": null,
"cds_length": 4341,
"cdna_start": 1869,
"cdna_end": null,
"cdna_length": 7905,
"mane_select": null,
"mane_plus": "NM_001083603.3",
"biotype": null,
"feature": null
},
{
"aa_ref": "LRAFS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "c.1256_1268delTGCGGGCGTTCTC",
"hgvs_p": "p.Leu419fs",
"transcript": "ENST00000429896.6",
"protein_id": "ENSP00000414823.2",
"transcript_support_level": 1,
"aa_start": 419,
"aa_end": null,
"aa_length": 1296,
"cds_start": 1256,
"cds_end": null,
"cds_length": 3891,
"cdna_start": 1709,
"cdna_end": null,
"cdna_length": 6563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LRAFS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "c.704_716delTGCGGGCGTTCTC",
"hgvs_p": "p.Leu235fs",
"transcript": "ENST00000375271.4",
"protein_id": "ENSP00000364420.4",
"transcript_support_level": 1,
"aa_start": 235,
"aa_end": null,
"aa_length": 351,
"cds_start": 704,
"cds_end": null,
"cds_length": 1058,
"cdna_start": 716,
"cdna_end": null,
"cdna_length": 1058,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LRAFS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "c.1553_1565delTGCGGGCGTTCTC",
"hgvs_p": "p.Leu518fs",
"transcript": "NM_001354918.2",
"protein_id": "NP_001341847.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 1395,
"cds_start": 1553,
"cds_end": null,
"cds_length": 4188,
"cdna_start": 2470,
"cdna_end": null,
"cdna_length": 8506,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LRAFS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "c.1511_1523delTGCGGGCGTTCTC",
"hgvs_p": "p.Leu504fs",
"transcript": "NM_001083602.3",
"protein_id": "NP_001077071.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 1381,
"cds_start": 1511,
"cds_end": null,
"cds_length": 4146,
"cdna_start": 2023,
"cdna_end": null,
"cdna_length": 8059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LRAFS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "c.1511_1523delTGCGGGCGTTCTC",
"hgvs_p": "p.Leu504fs",
"transcript": "ENST00000430669.6",
"protein_id": "ENSP00000410287.2",
"transcript_support_level": 5,
"aa_start": 504,
"aa_end": null,
"aa_length": 1381,
"cds_start": 1511,
"cds_end": null,
"cds_length": 4146,
"cdna_start": 2109,
"cdna_end": null,
"cdna_length": 8232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LRAFS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "c.1511_1523delTGCGGGCGTTCTC",
"hgvs_p": "p.Leu504fs",
"transcript": "ENST00000711046.1",
"protein_id": "ENSP00000518556.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 1381,
"cds_start": 1511,
"cds_end": null,
"cds_length": 4146,
"cdna_start": 2023,
"cdna_end": null,
"cdna_length": 8059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LRAFS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "c.1256_1268delTGCGGGCGTTCTC",
"hgvs_p": "p.Leu419fs",
"transcript": "NM_001083604.3",
"protein_id": "NP_001077073.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 1296,
"cds_start": 1256,
"cds_end": null,
"cds_length": 3891,
"cdna_start": 1627,
"cdna_end": null,
"cdna_length": 7663,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LRAFS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "c.1256_1268delTGCGGGCGTTCTC",
"hgvs_p": "p.Leu419fs",
"transcript": "NM_001083605.3",
"protein_id": "NP_001077074.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 1296,
"cds_start": 1256,
"cds_end": null,
"cds_length": 3891,
"cdna_start": 1610,
"cdna_end": null,
"cdna_length": 7646,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LRAFS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "c.1256_1268delTGCGGGCGTTCTC",
"hgvs_p": "p.Leu419fs",
"transcript": "NM_001083606.3",
"protein_id": "NP_001077075.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 1296,
"cds_start": 1256,
"cds_end": null,
"cds_length": 3891,
"cdna_start": 1719,
"cdna_end": null,
"cdna_length": 7755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LRAFS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "c.1256_1268delTGCGGGCGTTCTC",
"hgvs_p": "p.Leu419fs",
"transcript": "NM_001083607.3",
"protein_id": "NP_001077076.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 1296,
"cds_start": 1256,
"cds_end": null,
"cds_length": 3891,
"cdna_start": 1783,
"cdna_end": null,
"cdna_length": 7819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "LRAFS",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "c.1256_1268delTGCGGGCGTTCTC",
"hgvs_p": "p.Leu419fs",
"transcript": "ENST00000692981.1",
"protein_id": "ENSP00000510238.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 1296,
"cds_start": 1256,
"cds_end": null,
"cds_length": 3891,
"cdna_start": 1409,
"cdna_end": null,
"cdna_length": 7000,
"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": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "n.1346_1358delTGCGGGCGTTCTC",
"hgvs_p": null,
"transcript": "ENST00000375290.6",
"protein_id": "ENSP00000364439.2",
"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": 10631,
"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": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "n.1256_1268delTGCGGGCGTTCTC",
"hgvs_p": null,
"transcript": "ENST00000690194.1",
"protein_id": "ENSP00000509379.1",
"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": 7135,
"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": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"hgvs_c": "n.2614_2626delTGCGGGCGTTCTC",
"hgvs_p": null,
"transcript": "NR_149061.2",
"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": 8496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PTCH1",
"gene_hgnc_id": 9585,
"dbsnp": "rs1554697839",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 9.602,
"phylop100way_prediction": "Pathogenic",
"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": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PP5_Moderate",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PVS1",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "ENST00000331920.11",
"gene_symbol": "PTCH1",
"hgnc_id": 9585,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1709_1721delTGCGGGCGTTCTC",
"hgvs_p": "p.Leu570fs"
}
],
"clinvar_disease": "Gorlin syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Gorlin syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}