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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: 7-55174775-ATTAAGAGAAG-GC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=55174775&ref=ATTAAGAGAAG&alt=GC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 55174775,
"ref": "ATTAAGAGAAG",
"alt": "GC",
"effect": "disruptive_inframe_deletion,synonymous_variant",
"transcript": "NM_005228.5",
"consequences": [
{
"aa_ref": "ELREA",
"aa_alt": "EP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion",
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFR",
"gene_hgnc_id": 3236,
"hgvs_c": "c.2238_2248delATTAAGAGAAGinsGC",
"hgvs_p": "p.Leu747_Ala750delinsPro",
"transcript": "NM_005228.5",
"protein_id": "NP_005219.2",
"transcript_support_level": null,
"aa_start": 746,
"aa_end": null,
"aa_length": 1210,
"cds_start": 2238,
"cds_end": null,
"cds_length": 3633,
"cdna_start": 2499,
"cdna_end": null,
"cdna_length": 9905,
"mane_select": "ENST00000275493.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005228.5"
},
{
"aa_ref": "ELREA",
"aa_alt": "EP",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion",
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFR",
"gene_hgnc_id": 3236,
"hgvs_c": "c.2238_2248delATTAAGAGAAGinsGC",
"hgvs_p": "p.Leu747_Ala750delinsPro",
"transcript": "ENST00000275493.7",
"protein_id": "ENSP00000275493.2",
"transcript_support_level": 1,
"aa_start": 746,
"aa_end": null,
"aa_length": 1210,
"cds_start": 2238,
"cds_end": null,
"cds_length": 3633,
"cdna_start": 2499,
"cdna_end": null,
"cdna_length": 9905,
"mane_select": "NM_005228.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000275493.7"
},
{
"aa_ref": "ELREA",
"aa_alt": "EP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion",
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFR",
"gene_hgnc_id": 3236,
"hgvs_c": "c.2103_2113delATTAAGAGAAGinsGC",
"hgvs_p": "p.Leu702_Ala705delinsPro",
"transcript": "ENST00000455089.5",
"protein_id": "ENSP00000415559.1",
"transcript_support_level": 1,
"aa_start": 701,
"aa_end": null,
"aa_length": 1091,
"cds_start": 2103,
"cds_end": null,
"cds_length": 3276,
"cdna_start": 2360,
"cdna_end": null,
"cdna_length": 3844,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000455089.5"
},
{
"aa_ref": "ELREA",
"aa_alt": "EP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion",
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFR",
"gene_hgnc_id": 3236,
"hgvs_c": "c.2229_2239delATTAAGAGAAGinsGC",
"hgvs_p": "p.Leu744_Ala747delinsPro",
"transcript": "ENST00000898199.1",
"protein_id": "ENSP00000568258.1",
"transcript_support_level": null,
"aa_start": 743,
"aa_end": null,
"aa_length": 1207,
"cds_start": 2229,
"cds_end": null,
"cds_length": 3624,
"cdna_start": 2687,
"cdna_end": null,
"cdna_length": 4363,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898199.1"
},
{
"aa_ref": "ELREA",
"aa_alt": "EP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion",
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFR",
"gene_hgnc_id": 3236,
"hgvs_c": "c.2199_2209delATTAAGAGAAGinsGC",
"hgvs_p": "p.Leu734_Ala737delinsPro",
"transcript": "ENST00000898202.1",
"protein_id": "ENSP00000568261.1",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 1197,
"cds_start": 2199,
"cds_end": null,
"cds_length": 3594,
"cdna_start": 2373,
"cdna_end": null,
"cdna_length": 4062,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898202.1"
},
{
"aa_ref": "ELREA",
"aa_alt": "EP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion",
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFR",
"gene_hgnc_id": 3236,
"hgvs_c": "c.2103_2113delATTAAGAGAAGinsGC",
"hgvs_p": "p.Leu702_Ala705delinsPro",
"transcript": "NM_001346899.2",
"protein_id": "NP_001333828.1",
"transcript_support_level": null,
"aa_start": 701,
"aa_end": null,
"aa_length": 1165,
"cds_start": 2103,
"cds_end": null,
"cds_length": 3498,
"cdna_start": 2364,
"cdna_end": null,
"cdna_length": 9770,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346899.2"
},
{
"aa_ref": "ELREA",
"aa_alt": "EP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion",
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFR",
"gene_hgnc_id": 3236,
"hgvs_c": "c.2079_2089delATTAAGAGAAGinsGC",
"hgvs_p": "p.Leu694_Ala697delinsPro",
"transcript": "NM_001346900.2",
"protein_id": "NP_001333829.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 1157,
"cds_start": 2079,
"cds_end": null,
"cds_length": 3474,
"cdna_start": 2270,
"cdna_end": null,
"cdna_length": 9676,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346900.2"
},
{
"aa_ref": "ELREA",
"aa_alt": "EP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion",
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFR",
"gene_hgnc_id": 3236,
"hgvs_c": "c.2079_2089delATTAAGAGAAGinsGC",
"hgvs_p": "p.Leu694_Ala697delinsPro",
"transcript": "ENST00000450046.2",
"protein_id": "ENSP00000413354.2",
"transcript_support_level": 4,
"aa_start": 693,
"aa_end": null,
"aa_length": 1157,
"cds_start": 2079,
"cds_end": null,
"cds_length": 3474,
"cdna_start": 2386,
"cdna_end": null,
"cdna_length": 9700,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450046.2"
},
{
"aa_ref": "ELREA",
"aa_alt": "EP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion",
"synonymous_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.2238_2248delATTAAGAGAAGinsGC",
"hgvs_p": "p.Leu747_Ala750delinsPro",
"transcript": "NM_001346898.2",
"protein_id": "NP_001333827.1",
"transcript_support_level": null,
"aa_start": 746,
"aa_end": null,
"aa_length": 1136,
"cds_start": 2238,
"cds_end": null,
"cds_length": 3411,
"cdna_start": 2499,
"cdna_end": null,
"cdna_length": 3983,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346898.2"
},
{
"aa_ref": "ELREA",
"aa_alt": "EP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion",
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFR",
"gene_hgnc_id": 3236,
"hgvs_c": "c.1905_1915delATTAAGAGAAGinsGC",
"hgvs_p": "p.Leu636_Ala639delinsPro",
"transcript": "ENST00000898200.1",
"protein_id": "ENSP00000568259.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 1099,
"cds_start": 1905,
"cds_end": null,
"cds_length": 3300,
"cdna_start": 2166,
"cdna_end": null,
"cdna_length": 3855,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898200.1"
},
{
"aa_ref": "ELREA",
"aa_alt": "EP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion",
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFR",
"gene_hgnc_id": 3236,
"hgvs_c": "c.2103_2113delATTAAGAGAAGinsGC",
"hgvs_p": "p.Leu702_Ala705delinsPro",
"transcript": "NM_001346897.2",
"protein_id": "NP_001333826.1",
"transcript_support_level": null,
"aa_start": 701,
"aa_end": null,
"aa_length": 1091,
"cds_start": 2103,
"cds_end": null,
"cds_length": 3276,
"cdna_start": 2364,
"cdna_end": null,
"cdna_length": 3848,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346897.2"
},
{
"aa_ref": "ELREA",
"aa_alt": "EP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion",
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFR",
"gene_hgnc_id": 3236,
"hgvs_c": "c.1656_1666delATTAAGAGAAGinsGC",
"hgvs_p": "p.Leu553_Ala556delinsPro",
"transcript": "ENST00000898201.1",
"protein_id": "ENSP00000568260.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 1016,
"cds_start": 1656,
"cds_end": null,
"cds_length": 3051,
"cdna_start": 1917,
"cdna_end": null,
"cdna_length": 3606,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898201.1"
},
{
"aa_ref": "ELREA",
"aa_alt": "EP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion",
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFR",
"gene_hgnc_id": 3236,
"hgvs_c": "c.1437_1447delATTAAGAGAAGinsGC",
"hgvs_p": "p.Leu480_Ala483delinsPro",
"transcript": "NM_001346941.2",
"protein_id": "NP_001333870.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 943,
"cds_start": 1437,
"cds_end": null,
"cds_length": 2832,
"cdna_start": 1698,
"cdna_end": null,
"cdna_length": 9104,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346941.2"
},
{
"aa_ref": "ELREA",
"aa_alt": "EP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFR",
"gene_hgnc_id": 3236,
"hgvs_c": "c.585_595delATTAAGAGAAGinsGC",
"hgvs_p": "p.Leu196_Ala199delinsPro",
"transcript": "ENST00000700145.1",
"protein_id": "ENSP00000514824.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 343,
"cds_start": 585,
"cds_end": null,
"cds_length": 1032,
"cdna_start": 587,
"cdna_end": null,
"cdna_length": 1418,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700145.1"
},
{
"aa_ref": "ELREA",
"aa_alt": "EP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion",
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFR",
"gene_hgnc_id": 3236,
"hgvs_c": "c.2079_2089delATTAAGAGAAGinsGC",
"hgvs_p": "p.Leu694_Ala697delinsPro",
"transcript": "XM_047419952.1",
"protein_id": "XP_047275908.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 1157,
"cds_start": 2079,
"cds_end": null,
"cds_length": 3474,
"cdna_start": 41048,
"cdna_end": null,
"cdna_length": 48454,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419952.1"
},
{
"aa_ref": "ELREA",
"aa_alt": "EP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion",
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGFR",
"gene_hgnc_id": 3236,
"hgvs_c": "c.2079_2089delATTAAGAGAAGinsGC",
"hgvs_p": "p.Leu694_Ala697delinsPro",
"transcript": "XM_047419953.1",
"protein_id": "XP_047275909.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 1157,
"cds_start": 2079,
"cds_end": null,
"cds_length": 3474,
"cdna_start": 3225,
"cdna_end": null,
"cdna_length": 10631,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419953.1"
}
],
"gene_symbol": "EGFR",
"gene_hgnc_id": 3236,
"dbsnp": "rs121913435",
"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": 9.892,
"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": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PM4,PP3",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM1",
"PM2",
"PM4",
"PP3"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_005228.5",
"gene_symbol": "EGFR",
"hgnc_id": 3236,
"effects": [
"disruptive_inframe_deletion",
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.2238_2248delATTAAGAGAAGinsGC",
"hgvs_p": "p.Leu747_Ala750delinsPro"
}
],
"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
}