← 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: 5-37059000-TAGATTC-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=37059000&ref=TAGATTC&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 37059000,
"ref": "TAGATTC",
"alt": "T",
"effect": "disruptive_inframe_deletion",
"transcript": "ENST00000282516.13",
"consequences": [
{
"aa_ref": "DSE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPBL",
"gene_hgnc_id": 28862,
"hgvs_c": "c.7542_7547delTTCAGA",
"hgvs_p": "p.Asp2514_Ser2515del",
"transcript": "NM_133433.4",
"protein_id": "NP_597677.2",
"transcript_support_level": null,
"aa_start": 2514,
"aa_end": null,
"aa_length": 2804,
"cds_start": 7542,
"cds_end": null,
"cds_length": 8415,
"cdna_start": 8031,
"cdna_end": null,
"cdna_length": 10425,
"mane_select": "ENST00000282516.13",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DSE",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPBL",
"gene_hgnc_id": 28862,
"hgvs_c": "c.7542_7547delTTCAGA",
"hgvs_p": "p.Asp2514_Ser2515del",
"transcript": "ENST00000282516.13",
"protein_id": "ENSP00000282516.8",
"transcript_support_level": 1,
"aa_start": 2514,
"aa_end": null,
"aa_length": 2804,
"cds_start": 7542,
"cds_end": null,
"cds_length": 8415,
"cdna_start": 8031,
"cdna_end": null,
"cdna_length": 10425,
"mane_select": "NM_133433.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DSE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPBL",
"gene_hgnc_id": 28862,
"hgvs_c": "c.7542_7547delTTCAGA",
"hgvs_p": "p.Asp2514_Ser2515del",
"transcript": "ENST00000448238.2",
"protein_id": "ENSP00000406266.2",
"transcript_support_level": 1,
"aa_start": 2514,
"aa_end": null,
"aa_length": 2697,
"cds_start": 7542,
"cds_end": null,
"cds_length": 8094,
"cdna_start": 8010,
"cdna_end": null,
"cdna_length": 8729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DSE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPBL",
"gene_hgnc_id": 28862,
"hgvs_c": "c.7542_7547delTTCAGA",
"hgvs_p": "p.Asp2514_Ser2515del",
"transcript": "NM_001438586.1",
"protein_id": "NP_001425515.1",
"transcript_support_level": null,
"aa_start": 2514,
"aa_end": null,
"aa_length": 2698,
"cds_start": 7542,
"cds_end": null,
"cds_length": 8097,
"cdna_start": 8031,
"cdna_end": null,
"cdna_length": 10466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DSE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPBL",
"gene_hgnc_id": 28862,
"hgvs_c": "c.7542_7547delTTCAGA",
"hgvs_p": "p.Asp2514_Ser2515del",
"transcript": "NM_015384.5",
"protein_id": "NP_056199.2",
"transcript_support_level": null,
"aa_start": 2514,
"aa_end": null,
"aa_length": 2697,
"cds_start": 7542,
"cds_end": null,
"cds_length": 8094,
"cdna_start": 8031,
"cdna_end": null,
"cdna_length": 10379,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DSE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPBL",
"gene_hgnc_id": 28862,
"hgvs_c": "c.7395_7400delTTCAGA",
"hgvs_p": "p.Asp2465_Ser2466del",
"transcript": "ENST00000652901.1",
"protein_id": "ENSP00000499536.1",
"transcript_support_level": null,
"aa_start": 2465,
"aa_end": null,
"aa_length": 2649,
"cds_start": 7395,
"cds_end": null,
"cds_length": 7950,
"cdna_start": 7812,
"cdna_end": null,
"cdna_length": 9228,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DSE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPBL",
"gene_hgnc_id": 28862,
"hgvs_c": "c.120_125delTTCAGA",
"hgvs_p": "p.Asp40_Ser41del",
"transcript": "ENST00000513819.1",
"protein_id": "ENSP00000421504.1",
"transcript_support_level": 3,
"aa_start": 40,
"aa_end": null,
"aa_length": 149,
"cds_start": 120,
"cds_end": null,
"cds_length": 452,
"cdna_start": 120,
"cdna_end": null,
"cdna_length": 452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DSE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPBL",
"gene_hgnc_id": 28862,
"hgvs_c": "c.7395_7400delTTCAGA",
"hgvs_p": "p.Asp2465_Ser2466del",
"transcript": "XM_006714467.3",
"protein_id": "XP_006714530.1",
"transcript_support_level": null,
"aa_start": 2465,
"aa_end": null,
"aa_length": 2755,
"cds_start": 7395,
"cds_end": null,
"cds_length": 8268,
"cdna_start": 7884,
"cdna_end": null,
"cdna_length": 10278,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DSE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPBL",
"gene_hgnc_id": 28862,
"hgvs_c": "c.7344_7349delTTCAGA",
"hgvs_p": "p.Asp2448_Ser2449del",
"transcript": "XM_006714468.3",
"protein_id": "XP_006714531.1",
"transcript_support_level": null,
"aa_start": 2448,
"aa_end": null,
"aa_length": 2738,
"cds_start": 7344,
"cds_end": null,
"cds_length": 8217,
"cdna_start": 7833,
"cdna_end": null,
"cdna_length": 10227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DSE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPBL",
"gene_hgnc_id": 28862,
"hgvs_c": "c.7395_7400delTTCAGA",
"hgvs_p": "p.Asp2465_Ser2466del",
"transcript": "XM_017009329.2",
"protein_id": "XP_016864818.1",
"transcript_support_level": null,
"aa_start": 2465,
"aa_end": null,
"aa_length": 2649,
"cds_start": 7395,
"cds_end": null,
"cds_length": 7950,
"cdna_start": 7884,
"cdna_end": null,
"cdna_length": 10319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DSE",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPBL",
"gene_hgnc_id": 28862,
"hgvs_c": "c.6882_6887delTTCAGA",
"hgvs_p": "p.Asp2294_Ser2295del",
"transcript": "XM_005248282.6",
"protein_id": "XP_005248339.3",
"transcript_support_level": null,
"aa_start": 2294,
"aa_end": null,
"aa_length": 2584,
"cds_start": 6882,
"cds_end": null,
"cds_length": 7755,
"cdna_start": 7586,
"cdna_end": null,
"cdna_length": 9980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPBL",
"gene_hgnc_id": 28862,
"hgvs_c": "n.1424_1429delTTCAGA",
"hgvs_p": null,
"transcript": "ENST00000514335.1",
"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": 2948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 43,
"intron_rank": 42,
"intron_rank_end": null,
"gene_symbol": "NIPBL",
"gene_hgnc_id": 28862,
"hgvs_c": "c.7264-1822_7264-1817delTTCAGA",
"hgvs_p": null,
"transcript": "XM_011514015.2",
"protein_id": "XP_011512317.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2421,
"cds_start": -4,
"cds_end": null,
"cds_length": 7266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7895,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NIPBL",
"gene_hgnc_id": 28862,
"dbsnp": "rs587784044",
"frequency_reference_population": 0.00012762088,
"hom_count_reference_population": 1,
"allele_count_reference_population": 206,
"gnomad_exomes_af": 0.000116973,
"gnomad_genomes_af": 0.000229843,
"gnomad_exomes_ac": 171,
"gnomad_genomes_ac": 35,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"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": 5.773,
"phylop100way_prediction": "Uncertain_significance",
"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": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000282516.13",
"gene_symbol": "NIPBL",
"hgnc_id": 28862,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AD",
"hgvs_c": "c.7542_7547delTTCAGA",
"hgvs_p": "p.Asp2514_Ser2515del"
}
],
"clinvar_disease": "Cornelia de Lange syndrome 1,Inborn genetic diseases,Intellectual disability,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:1 B:1",
"phenotype_combined": "Cornelia de Lange syndrome 1|Inborn genetic diseases|Intellectual disability|not specified",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}