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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: 7-157006487-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=157006487&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 157006487,
"ref": "C",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000252971.11",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MNX1",
"gene_hgnc_id": 4979,
"hgvs_c": "c.844G>T",
"hgvs_p": "p.Glu282*",
"transcript": "NM_005515.4",
"protein_id": "NP_005506.3",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 401,
"cds_start": 844,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 1157,
"cdna_end": null,
"cdna_length": 2185,
"mane_select": "ENST00000252971.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MNX1",
"gene_hgnc_id": 4979,
"hgvs_c": "c.844G>T",
"hgvs_p": "p.Glu282*",
"transcript": "ENST00000252971.11",
"protein_id": "ENSP00000252971.5",
"transcript_support_level": 1,
"aa_start": 282,
"aa_end": null,
"aa_length": 401,
"cds_start": 844,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 1157,
"cdna_end": null,
"cdna_length": 2185,
"mane_select": "NM_005515.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MNX1",
"gene_hgnc_id": 4979,
"hgvs_c": "c.208G>T",
"hgvs_p": "p.Glu70*",
"transcript": "ENST00000543409.5",
"protein_id": "ENSP00000438552.1",
"transcript_support_level": 1,
"aa_start": 70,
"aa_end": null,
"aa_length": 189,
"cds_start": 208,
"cds_end": null,
"cds_length": 570,
"cdna_start": 591,
"cdna_end": null,
"cdna_length": 1620,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MNX1",
"gene_hgnc_id": 4979,
"hgvs_c": "c.208G>T",
"hgvs_p": "p.Glu70*",
"transcript": "ENST00000428439.1",
"protein_id": "ENSP00000401158.1",
"transcript_support_level": 1,
"aa_start": 70,
"aa_end": null,
"aa_length": 81,
"cds_start": 208,
"cds_end": null,
"cds_length": 248,
"cdna_start": 591,
"cdna_end": null,
"cdna_length": 631,
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MNX1",
"gene_hgnc_id": 4979,
"hgvs_c": "c.55+2511G>T",
"hgvs_p": null,
"transcript": "ENST00000469500.5",
"protein_id": "ENSP00000475129.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 36,
"cds_start": -4,
"cds_end": null,
"cds_length": 111,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 209,
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MNX1",
"gene_hgnc_id": 4979,
"hgvs_c": "c.37+3173G>T",
"hgvs_p": null,
"transcript": "ENST00000479817.1",
"protein_id": "ENSP00000474286.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 30,
"cds_start": -4,
"cds_end": null,
"cds_length": 93,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 169,
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MNX1",
"gene_hgnc_id": 4979,
"hgvs_c": "c.56-614G>T",
"hgvs_p": null,
"transcript": "ENST00000425745.1",
"protein_id": "ENSP00000416458.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 28,
"cds_start": -4,
"cds_end": null,
"cds_length": 87,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 322,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MNX1",
"gene_hgnc_id": 4979,
"hgvs_c": "c.208G>T",
"hgvs_p": "p.Glu70*",
"transcript": "NM_001165255.2",
"protein_id": "NP_001158727.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 189,
"cds_start": 208,
"cds_end": null,
"cds_length": 570,
"cdna_start": 591,
"cdna_end": null,
"cdna_length": 1619,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MNX1",
"gene_hgnc_id": 4979,
"hgvs_c": "n.*246G>T",
"hgvs_p": null,
"transcript": "ENST00000474448.1",
"protein_id": "ENSP00000473965.1",
"transcript_support_level": 5,
"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": 1101,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MNX1",
"gene_hgnc_id": 4979,
"hgvs_c": "n.*246G>T",
"hgvs_p": null,
"transcript": "ENST00000474448.1",
"protein_id": "ENSP00000473965.1",
"transcript_support_level": 5,
"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": 1101,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MNX1-AS2",
"gene_hgnc_id": 40278,
"hgvs_c": "n.118+63C>A",
"hgvs_p": null,
"transcript": "ENST00000429228.1",
"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": 374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MNX1-AS2",
"gene_hgnc_id": 40278,
"hgvs_c": "n.118+63C>A",
"hgvs_p": null,
"transcript": "NR_147077.1",
"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": 362,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MNX1",
"gene_hgnc_id": 4979,
"dbsnp": "rs121912549",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5600000023841858,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.10999999940395355,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.56,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.656,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.11,
"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": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1_Strong,PM2,PP5",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PVS1_Strong",
"PM2",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000252971.11",
"gene_symbol": "MNX1",
"hgnc_id": 4979,
"effects": [
"stop_gained"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.844G>T",
"hgvs_p": "p.Glu282*"
},
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM2",
"PP3_Strong",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000429228.1",
"gene_symbol": "MNX1-AS2",
"hgnc_id": 40278,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.118+63C>A",
"hgvs_p": null
}
],
"clinvar_disease": "Currarino triad",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Currarino triad",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}