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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: 12-25209828-TTTC-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=25209828&ref=TTTC&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 25209828,
"ref": "TTTC",
"alt": "T",
"effect": "disruptive_inframe_deletion",
"transcript": "ENST00000311936.8",
"consequences": [
{
"aa_ref": "KK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRAS",
"gene_hgnc_id": 6407,
"hgvs_c": "c.531_533delGAA",
"hgvs_p": "p.Lys178del",
"transcript": "NM_004985.5",
"protein_id": "NP_004976.2",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 188,
"cds_start": 531,
"cds_end": null,
"cds_length": 567,
"cdna_start": 723,
"cdna_end": null,
"cdna_length": 5306,
"mane_select": "ENST00000311936.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KK",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRAS",
"gene_hgnc_id": 6407,
"hgvs_c": "c.531_533delGAA",
"hgvs_p": "p.Lys178del",
"transcript": "ENST00000311936.8",
"protein_id": "ENSP00000308495.3",
"transcript_support_level": 1,
"aa_start": 177,
"aa_end": null,
"aa_length": 188,
"cds_start": 531,
"cds_end": null,
"cds_length": 567,
"cdna_start": 723,
"cdna_end": null,
"cdna_length": 5306,
"mane_select": "NM_004985.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRAS",
"gene_hgnc_id": 6407,
"hgvs_c": "c.*85_*87delGAA",
"hgvs_p": null,
"transcript": "NM_033360.4",
"protein_id": "NP_203524.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 189,
"cds_start": -4,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5430,
"mane_select": null,
"mane_plus": "ENST00000256078.10",
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRAS",
"gene_hgnc_id": 6407,
"hgvs_c": "c.*85_*87delGAA",
"hgvs_p": null,
"transcript": "ENST00000256078.10",
"protein_id": "ENSP00000256078.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 189,
"cds_start": -4,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5430,
"mane_select": null,
"mane_plus": "NM_033360.4",
"biotype": null,
"feature": null
},
{
"aa_ref": "KK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRAS",
"gene_hgnc_id": 6407,
"hgvs_c": "c.531_533delGAA",
"hgvs_p": "p.Lys178del",
"transcript": "NM_001369787.1",
"protein_id": "NP_001356716.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 188,
"cds_start": 531,
"cds_end": null,
"cds_length": 567,
"cdna_start": 710,
"cdna_end": null,
"cdna_length": 5293,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRAS",
"gene_hgnc_id": 6407,
"hgvs_c": "c.531_533delGAA",
"hgvs_p": "p.Lys178del",
"transcript": "ENST00000685328.1",
"protein_id": "ENSP00000508921.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 188,
"cds_start": 531,
"cds_end": null,
"cds_length": 567,
"cdna_start": 716,
"cdna_end": null,
"cdna_length": 5287,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRAS",
"gene_hgnc_id": 6407,
"hgvs_c": "c.531_533delGAA",
"hgvs_p": "p.Lys178del",
"transcript": "ENST00000688940.1",
"protein_id": "ENSP00000509238.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 188,
"cds_start": 531,
"cds_end": null,
"cds_length": 567,
"cdna_start": 734,
"cdna_end": null,
"cdna_length": 3630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRAS",
"gene_hgnc_id": 6407,
"hgvs_c": "c.456_458delGAA",
"hgvs_p": "p.Lys153del",
"transcript": "ENST00000693229.1",
"protein_id": "ENSP00000509223.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 163,
"cds_start": 456,
"cds_end": null,
"cds_length": 492,
"cdna_start": 618,
"cdna_end": null,
"cdna_length": 5187,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRAS",
"gene_hgnc_id": 6407,
"hgvs_c": "c.333_335delGAA",
"hgvs_p": "p.Lys112del",
"transcript": "ENST00000692768.1",
"protein_id": "ENSP00000510254.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 122,
"cds_start": 333,
"cds_end": null,
"cds_length": 369,
"cdna_start": 589,
"cdna_end": null,
"cdna_length": 5075,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRAS",
"gene_hgnc_id": 6407,
"hgvs_c": "c.192_194delGAA",
"hgvs_p": "p.Lys65del",
"transcript": "ENST00000557334.6",
"protein_id": "ENSP00000452512.1",
"transcript_support_level": 5,
"aa_start": 64,
"aa_end": null,
"aa_length": 75,
"cds_start": 192,
"cds_end": null,
"cds_length": 228,
"cdna_start": 391,
"cdna_end": null,
"cdna_length": 1042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRAS",
"gene_hgnc_id": 6407,
"hgvs_c": "c.648_650delGAA",
"hgvs_p": "p.Lys217del",
"transcript": "XM_047428826.1",
"protein_id": "XP_047284782.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 227,
"cds_start": 648,
"cds_end": null,
"cds_length": 684,
"cdna_start": 827,
"cdna_end": null,
"cdna_length": 5410,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRAS",
"gene_hgnc_id": 6407,
"hgvs_c": "n.*502_*504delGAA",
"hgvs_p": null,
"transcript": "ENST00000686877.1",
"protein_id": "ENSP00000510431.1",
"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": 5420,
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRAS",
"gene_hgnc_id": 6407,
"hgvs_c": "n.*229_*231delGAA",
"hgvs_p": null,
"transcript": "ENST00000687356.1",
"protein_id": "ENSP00000510511.1",
"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": 5101,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRAS",
"gene_hgnc_id": 6407,
"hgvs_c": "n.1005_1007delGAA",
"hgvs_p": null,
"transcript": "ENST00000688228.1",
"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": 1163,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRAS",
"gene_hgnc_id": 6407,
"hgvs_c": "n.*171_*173delGAA",
"hgvs_p": null,
"transcript": "ENST00000690406.1",
"protein_id": "ENSP00000509798.1",
"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": 4919,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRAS",
"gene_hgnc_id": 6407,
"hgvs_c": "n.*492_*494delGAA",
"hgvs_p": null,
"transcript": "ENST00000690804.1",
"protein_id": "ENSP00000508568.1",
"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": 2721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRAS",
"gene_hgnc_id": 6407,
"hgvs_c": "c.*85_*87delGAA",
"hgvs_p": null,
"transcript": "NM_001369786.1",
"protein_id": "NP_001356715.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 189,
"cds_start": -4,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5417,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRAS",
"gene_hgnc_id": 6407,
"hgvs_c": "n.*502_*504delGAA",
"hgvs_p": null,
"transcript": "ENST00000686877.1",
"protein_id": "ENSP00000510431.1",
"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": 5420,
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRAS",
"gene_hgnc_id": 6407,
"hgvs_c": "n.*229_*231delGAA",
"hgvs_p": null,
"transcript": "ENST00000687356.1",
"protein_id": "ENSP00000510511.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 5101,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRAS",
"gene_hgnc_id": 6407,
"hgvs_c": "n.*171_*173delGAA",
"hgvs_p": null,
"transcript": "ENST00000690406.1",
"protein_id": "ENSP00000509798.1",
"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": 4919,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRAS",
"gene_hgnc_id": 6407,
"hgvs_c": "n.*492_*494delGAA",
"hgvs_p": null,
"transcript": "ENST00000690804.1",
"protein_id": "ENSP00000508568.1",
"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": 2721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETFRF1",
"gene_hgnc_id": 27052,
"hgvs_c": "c.*566_*568delTTC",
"hgvs_p": null,
"transcript": "ENST00000553788.6",
"protein_id": "ENSP00000451938.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 39,
"cds_start": -4,
"cds_end": null,
"cds_length": 120,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KRAS",
"gene_hgnc_id": 6407,
"dbsnp": "rs397517043",
"frequency_reference_population": 0.0010752701,
"hom_count_reference_population": 2,
"allele_count_reference_population": 1732,
"gnomad_exomes_af": 0.00111625,
"gnomad_genomes_af": 0.000682872,
"gnomad_exomes_ac": 1628,
"gnomad_genomes_ac": 104,
"gnomad_exomes_homalt": 2,
"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": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 7.631,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"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": -15,
"acmg_classification": "Benign",
"acmg_criteria": "PM4_Supporting,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -15,
"benign_score": 16,
"pathogenic_score": 1,
"criteria": [
"PM4_Supporting",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000311936.8",
"gene_symbol": "KRAS",
"hgnc_id": 6407,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AD",
"hgvs_c": "c.531_533delGAA",
"hgvs_p": "p.Lys178del"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000553788.6",
"gene_symbol": "ETFRF1",
"hgnc_id": 27052,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*566_*568delTTC",
"hgvs_p": null
}
],
"clinvar_disease": "Cardiovascular phenotype,KRAS-related disorder,Noonan syndrome and Noonan-related syndrome,RASopathy,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "reviewed by expert panel",
"clinvar_submissions_summary": "LB:7 B:2 O:1",
"phenotype_combined": "not specified|RASopathy|not provided|Noonan syndrome and Noonan-related syndrome|Cardiovascular phenotype|KRAS-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}