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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: 1-91266061-GG-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=91266061&ref=GG&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 91266061,
"ref": "GG",
"alt": "C",
"effect": "frameshift_variant,synonymous_variant",
"transcript": "ENST00000370425.8",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFM1",
"gene_hgnc_id": 20193,
"hgvs_c": "c.3929_3930delCCinsG",
"hgvs_p": "p.Pro1310fs",
"transcript": "NM_001017975.6",
"protein_id": "NP_001017975.5",
"transcript_support_level": null,
"aa_start": 1310,
"aa_end": null,
"aa_length": 1435,
"cds_start": 3929,
"cds_end": null,
"cds_length": 4308,
"cdna_start": 3997,
"cdna_end": null,
"cdna_length": 4899,
"mane_select": "ENST00000370425.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFM1",
"gene_hgnc_id": 20193,
"hgvs_c": "c.3929_3930delCCinsG",
"hgvs_p": "p.Pro1310fs",
"transcript": "ENST00000370425.8",
"protein_id": "ENSP00000359454.3",
"transcript_support_level": 1,
"aa_start": 1310,
"aa_end": null,
"aa_length": 1435,
"cds_start": 3929,
"cds_end": null,
"cds_length": 4308,
"cdna_start": 3997,
"cdna_end": null,
"cdna_length": 4899,
"mane_select": "NM_001017975.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFM1",
"gene_hgnc_id": 20193,
"hgvs_c": "c.1562_1563delCCinsG",
"hgvs_p": "p.Pro521fs",
"transcript": "ENST00000430465.1",
"protein_id": "ENSP00000387661.1",
"transcript_support_level": 1,
"aa_start": 521,
"aa_end": null,
"aa_length": 624,
"cds_start": 1562,
"cds_end": null,
"cds_length": 1875,
"cdna_start": 1565,
"cdna_end": null,
"cdna_length": 1928,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFM1",
"gene_hgnc_id": 20193,
"hgvs_c": "c.3929_3930delCCinsG",
"hgvs_p": "p.Pro1310fs",
"transcript": "XM_011540849.2",
"protein_id": "XP_011539151.1",
"transcript_support_level": null,
"aa_start": 1310,
"aa_end": null,
"aa_length": 1435,
"cds_start": 3929,
"cds_end": null,
"cds_length": 4308,
"cdna_start": 4214,
"cdna_end": null,
"cdna_length": 5116,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFM1",
"gene_hgnc_id": 20193,
"hgvs_c": "c.3929_3930delCCinsG",
"hgvs_p": "p.Pro1310fs",
"transcript": "XM_011540850.3",
"protein_id": "XP_011539152.1",
"transcript_support_level": null,
"aa_start": 1310,
"aa_end": null,
"aa_length": 1435,
"cds_start": 3929,
"cds_end": null,
"cds_length": 4308,
"cdna_start": 4042,
"cdna_end": null,
"cdna_length": 4944,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFM1",
"gene_hgnc_id": 20193,
"hgvs_c": "c.3929_3930delCCinsG",
"hgvs_p": "p.Pro1310fs",
"transcript": "XM_011540851.2",
"protein_id": "XP_011539153.1",
"transcript_support_level": null,
"aa_start": 1310,
"aa_end": null,
"aa_length": 1435,
"cds_start": 3929,
"cds_end": null,
"cds_length": 4308,
"cdna_start": 4030,
"cdna_end": null,
"cdna_length": 4932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFM1",
"gene_hgnc_id": 20193,
"hgvs_c": "c.3929_3930delCCinsG",
"hgvs_p": "p.Pro1310fs",
"transcript": "XM_011540852.3",
"protein_id": "XP_011539154.1",
"transcript_support_level": null,
"aa_start": 1310,
"aa_end": null,
"aa_length": 1435,
"cds_start": 3929,
"cds_end": null,
"cds_length": 4308,
"cdna_start": 3977,
"cdna_end": null,
"cdna_length": 4879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFM1",
"gene_hgnc_id": 20193,
"hgvs_c": "c.3848_3849delCCinsG",
"hgvs_p": "p.Pro1283fs",
"transcript": "XM_017000490.2",
"protein_id": "XP_016855979.1",
"transcript_support_level": null,
"aa_start": 1283,
"aa_end": null,
"aa_length": 1408,
"cds_start": 3848,
"cds_end": null,
"cds_length": 4227,
"cdna_start": 3916,
"cdna_end": null,
"cdna_length": 4818,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFM1",
"gene_hgnc_id": 20193,
"hgvs_c": "c.3803_3804delCCinsG",
"hgvs_p": "p.Pro1268fs",
"transcript": "XM_011540855.3",
"protein_id": "XP_011539157.1",
"transcript_support_level": null,
"aa_start": 1268,
"aa_end": null,
"aa_length": 1393,
"cds_start": 3803,
"cds_end": null,
"cds_length": 4182,
"cdna_start": 3846,
"cdna_end": null,
"cdna_length": 4748,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFM1",
"gene_hgnc_id": 20193,
"hgvs_c": "c.3797_3798delCCinsG",
"hgvs_p": "p.Pro1266fs",
"transcript": "XM_017000491.2",
"protein_id": "XP_016855980.1",
"transcript_support_level": null,
"aa_start": 1266,
"aa_end": null,
"aa_length": 1391,
"cds_start": 3797,
"cds_end": null,
"cds_length": 4176,
"cdna_start": 3865,
"cdna_end": null,
"cdna_length": 4767,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFM1",
"gene_hgnc_id": 20193,
"hgvs_c": "c.3797_3798delCCinsG",
"hgvs_p": "p.Pro1266fs",
"transcript": "XM_047447938.1",
"protein_id": "XP_047303894.1",
"transcript_support_level": null,
"aa_start": 1266,
"aa_end": null,
"aa_length": 1369,
"cds_start": 3797,
"cds_end": null,
"cds_length": 4110,
"cdna_start": 3865,
"cdna_end": null,
"cdna_length": 4232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFM1",
"gene_hgnc_id": 20193,
"hgvs_c": "c.3506_3507delCCinsG",
"hgvs_p": "p.Pro1169fs",
"transcript": "XM_011540857.2",
"protein_id": "XP_011539159.1",
"transcript_support_level": null,
"aa_start": 1169,
"aa_end": null,
"aa_length": 1294,
"cds_start": 3506,
"cds_end": null,
"cds_length": 3885,
"cdna_start": 3574,
"cdna_end": null,
"cdna_length": 4476,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFM1",
"gene_hgnc_id": 20193,
"hgvs_c": "c.2966_2967delCCinsG",
"hgvs_p": "p.Pro989fs",
"transcript": "XM_017000492.1",
"protein_id": "XP_016855981.1",
"transcript_support_level": null,
"aa_start": 989,
"aa_end": null,
"aa_length": 1114,
"cds_start": 2966,
"cds_end": null,
"cds_length": 3345,
"cdna_start": 3076,
"cdna_end": null,
"cdna_length": 3978,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFM1",
"gene_hgnc_id": 20193,
"hgvs_c": "c.2756_2757delCCinsG",
"hgvs_p": "p.Pro919fs",
"transcript": "XM_011540859.3",
"protein_id": "XP_011539161.1",
"transcript_support_level": null,
"aa_start": 919,
"aa_end": null,
"aa_length": 1044,
"cds_start": 2756,
"cds_end": null,
"cds_length": 3135,
"cdna_start": 3339,
"cdna_end": null,
"cdna_length": 4241,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFM1",
"gene_hgnc_id": 20193,
"hgvs_c": "c.2258_2259delCCinsG",
"hgvs_p": "p.Pro753fs",
"transcript": "XM_017000493.1",
"protein_id": "XP_016855982.1",
"transcript_support_level": null,
"aa_start": 753,
"aa_end": null,
"aa_length": 878,
"cds_start": 2258,
"cds_end": null,
"cds_length": 2637,
"cdna_start": 2280,
"cdna_end": null,
"cdna_length": 3182,
"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": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HFM1",
"gene_hgnc_id": 20193,
"hgvs_c": "n.3519_3520delCCinsG",
"hgvs_p": null,
"transcript": "NR_165455.1",
"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": 4422,
"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": 21,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "HFM1",
"gene_hgnc_id": 20193,
"hgvs_c": "n.1809+1683_1809+1684delCCinsG",
"hgvs_p": null,
"transcript": "ENST00000462405.5",
"protein_id": null,
"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": 2667,
"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": 36,
"intron_rank": 35,
"intron_rank_end": null,
"gene_symbol": "HFM1",
"gene_hgnc_id": 20193,
"hgvs_c": "c.3883+1683_3883+1684delCCinsG",
"hgvs_p": null,
"transcript": "XM_047447940.1",
"protein_id": "XP_047303896.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1319,
"cds_start": -4,
"cds_end": null,
"cds_length": 3960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4062,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "HFM1",
"gene_hgnc_id": 20193,
"dbsnp": "rs587777270",
"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": 0.19,
"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": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000370425.8",
"gene_symbol": "HFM1",
"hgnc_id": 20193,
"effects": [
"frameshift_variant",
"synonymous_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.3929_3930delCCinsG",
"hgvs_p": "p.Pro1310fs"
}
],
"clinvar_disease": "Premature ovarian failure 9",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Premature ovarian failure 9",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}