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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: 7-55181317-GAC-TGGG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=55181317&ref=GAC&alt=TGGG&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 55181317,
"ref": "GAC",
"alt": "TGGG",
"effect": "frameshift_variant,missense_variant",
"transcript": "ENST00000275493.7",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "W?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFR",
"gene_hgnc_id": 3236,
"hgvs_c": "c.2308_2310delGACinsTGGG",
"hgvs_p": "p.Asp770fs",
"transcript": "NM_005228.5",
"protein_id": "NP_005219.2",
"transcript_support_level": null,
"aa_start": 770,
"aa_end": null,
"aa_length": 1210,
"cds_start": 2308,
"cds_end": null,
"cds_length": 3633,
"cdna_start": 2569,
"cdna_end": null,
"cdna_length": 9905,
"mane_select": "ENST00000275493.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "W?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFR",
"gene_hgnc_id": 3236,
"hgvs_c": "c.2308_2310delGACinsTGGG",
"hgvs_p": "p.Asp770fs",
"transcript": "ENST00000275493.7",
"protein_id": "ENSP00000275493.2",
"transcript_support_level": 1,
"aa_start": 770,
"aa_end": null,
"aa_length": 1210,
"cds_start": 2308,
"cds_end": null,
"cds_length": 3633,
"cdna_start": 2569,
"cdna_end": null,
"cdna_length": 9905,
"mane_select": "NM_005228.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "W?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFR",
"gene_hgnc_id": 3236,
"hgvs_c": "c.2173_2175delGACinsTGGG",
"hgvs_p": "p.Asp725fs",
"transcript": "ENST00000455089.5",
"protein_id": "ENSP00000415559.1",
"transcript_support_level": 1,
"aa_start": 725,
"aa_end": null,
"aa_length": 1091,
"cds_start": 2173,
"cds_end": null,
"cds_length": 3276,
"cdna_start": 2430,
"cdna_end": null,
"cdna_length": 3844,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "W?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFR",
"gene_hgnc_id": 3236,
"hgvs_c": "c.2173_2175delGACinsTGGG",
"hgvs_p": "p.Asp725fs",
"transcript": "NM_001346899.2",
"protein_id": "NP_001333828.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 1165,
"cds_start": 2173,
"cds_end": null,
"cds_length": 3498,
"cdna_start": 2434,
"cdna_end": null,
"cdna_length": 9770,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "W?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFR",
"gene_hgnc_id": 3236,
"hgvs_c": "c.2149_2151delGACinsTGGG",
"hgvs_p": "p.Asp717fs",
"transcript": "NM_001346900.2",
"protein_id": "NP_001333829.1",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
"aa_length": 1157,
"cds_start": 2149,
"cds_end": null,
"cds_length": 3474,
"cdna_start": 2340,
"cdna_end": null,
"cdna_length": 9676,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "W?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFR",
"gene_hgnc_id": 3236,
"hgvs_c": "c.2149_2151delGACinsTGGG",
"hgvs_p": "p.Asp717fs",
"transcript": "ENST00000450046.2",
"protein_id": "ENSP00000413354.2",
"transcript_support_level": 4,
"aa_start": 717,
"aa_end": null,
"aa_length": 1157,
"cds_start": 2149,
"cds_end": null,
"cds_length": 3474,
"cdna_start": 2456,
"cdna_end": null,
"cdna_length": 9700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "W?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFR",
"gene_hgnc_id": 3236,
"hgvs_c": "c.2308_2310delGACinsTGGG",
"hgvs_p": "p.Asp770fs",
"transcript": "NM_001346898.2",
"protein_id": "NP_001333827.1",
"transcript_support_level": null,
"aa_start": 770,
"aa_end": null,
"aa_length": 1136,
"cds_start": 2308,
"cds_end": null,
"cds_length": 3411,
"cdna_start": 2569,
"cdna_end": null,
"cdna_length": 3983,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "W?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFR",
"gene_hgnc_id": 3236,
"hgvs_c": "c.2173_2175delGACinsTGGG",
"hgvs_p": "p.Asp725fs",
"transcript": "NM_001346897.2",
"protein_id": "NP_001333826.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 1091,
"cds_start": 2173,
"cds_end": null,
"cds_length": 3276,
"cdna_start": 2434,
"cdna_end": null,
"cdna_length": 3848,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "W?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFR",
"gene_hgnc_id": 3236,
"hgvs_c": "c.1507_1509delGACinsTGGG",
"hgvs_p": "p.Asp503fs",
"transcript": "NM_001346941.2",
"protein_id": "NP_001333870.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 943,
"cds_start": 1507,
"cds_end": null,
"cds_length": 2832,
"cdna_start": 1768,
"cdna_end": null,
"cdna_length": 9104,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "W?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFR",
"gene_hgnc_id": 3236,
"hgvs_c": "c.655_657delGACinsTGGG",
"hgvs_p": "p.Asp219fs",
"transcript": "ENST00000700145.1",
"protein_id": "ENSP00000514824.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 343,
"cds_start": 655,
"cds_end": null,
"cds_length": 1032,
"cdna_start": 657,
"cdna_end": null,
"cdna_length": 1418,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "W?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFR",
"gene_hgnc_id": 3236,
"hgvs_c": "c.2149_2151delGACinsTGGG",
"hgvs_p": "p.Asp717fs",
"transcript": "XM_047419952.1",
"protein_id": "XP_047275908.1",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
"aa_length": 1157,
"cds_start": 2149,
"cds_end": null,
"cds_length": 3474,
"cdna_start": 41118,
"cdna_end": null,
"cdna_length": 48454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "W?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFR",
"gene_hgnc_id": 3236,
"hgvs_c": "c.2149_2151delGACinsTGGG",
"hgvs_p": "p.Asp717fs",
"transcript": "XM_047419953.1",
"protein_id": "XP_047275909.1",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
"aa_length": 1157,
"cds_start": 2149,
"cds_end": null,
"cds_length": 3474,
"cdna_start": 3295,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFR-AS1",
"gene_hgnc_id": 40207,
"hgvs_c": "n.1289_1291delGTCinsCCCA",
"hgvs_p": null,
"transcript": "ENST00000442411.3",
"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": 2858,
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFR-AS1",
"gene_hgnc_id": 40207,
"hgvs_c": "n.1252_1254delGTCinsCCCA",
"hgvs_p": null,
"transcript": "NR_047551.1",
"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": 2821,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "EGFR",
"gene_hgnc_id": 3236,
"dbsnp": "rs727503019",
"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": 6.896,
"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": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PVS1",
"PM2"
],
"verdict": "Pathogenic",
"transcript": "ENST00000275493.7",
"gene_symbol": "EGFR",
"hgnc_id": 3236,
"effects": [
"frameshift_variant",
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.2308_2310delGACinsTGGG",
"hgvs_p": "p.Asp770fs"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000442411.3",
"gene_symbol": "EGFR-AS1",
"hgnc_id": 40207,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1289_1291delGTCinsCCCA",
"hgvs_p": null
}
],
"clinvar_disease": "Tyrosine kinase inhibitor response",
"clinvar_classification": "drug response",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "O:1",
"phenotype_combined": "Tyrosine kinase inhibitor response",
"pathogenicity_classification_combined": "drug response",
"custom_annotations": null
}
],
"message": null
}