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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: 12-25245350-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=25245350&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 25245350,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_033360.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRAS",
"gene_hgnc_id": 6407,
"hgvs_c": "c.35G>A",
"hgvs_p": "p.Gly12Asp",
"transcript": "NM_033360.4",
"protein_id": "NP_203524.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 189,
"cds_start": 35,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "ENST00000256078.10",
"biotype": "protein_coding",
"feature": "NM_033360.4"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRAS",
"gene_hgnc_id": 6407,
"hgvs_c": "c.35G>A",
"hgvs_p": "p.Gly12Asp",
"transcript": "ENST00000256078.10",
"protein_id": "ENSP00000256078.5",
"transcript_support_level": 1,
"aa_start": 12,
"aa_end": null,
"aa_length": 189,
"cds_start": 35,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "NM_033360.4",
"biotype": "protein_coding",
"feature": "ENST00000256078.10"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRAS",
"gene_hgnc_id": 6407,
"hgvs_c": "c.35G>A",
"hgvs_p": "p.Gly12Asp",
"transcript": "NM_004985.5",
"protein_id": "NP_004976.2",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 188,
"cds_start": 35,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000311936.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004985.5"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRAS",
"gene_hgnc_id": 6407,
"hgvs_c": "c.35G>A",
"hgvs_p": "p.Gly12Asp",
"transcript": "ENST00000311936.8",
"protein_id": "ENSP00000308495.3",
"transcript_support_level": 1,
"aa_start": 12,
"aa_end": null,
"aa_length": 188,
"cds_start": 35,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004985.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000311936.8"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRAS",
"gene_hgnc_id": 6407,
"hgvs_c": "c.35G>A",
"hgvs_p": "p.Gly12Asp",
"transcript": "ENST00000556131.2",
"protein_id": "ENSP00000451856.1",
"transcript_support_level": 1,
"aa_start": 12,
"aa_end": null,
"aa_length": 43,
"cds_start": 35,
"cds_end": null,
"cds_length": 132,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000556131.2"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRAS",
"gene_hgnc_id": 6407,
"hgvs_c": "c.35G>A",
"hgvs_p": "p.Gly12Asp",
"transcript": "NM_001369786.1",
"protein_id": "NP_001356715.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 189,
"cds_start": 35,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369786.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRAS",
"gene_hgnc_id": 6407,
"hgvs_c": "c.35G>A",
"hgvs_p": "p.Gly12Asp",
"transcript": "NM_001369787.1",
"protein_id": "NP_001356716.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 188,
"cds_start": 35,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369787.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRAS",
"gene_hgnc_id": 6407,
"hgvs_c": "c.35G>A",
"hgvs_p": "p.Gly12Asp",
"transcript": "ENST00000685328.1",
"protein_id": "ENSP00000508921.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 188,
"cds_start": 35,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000685328.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRAS",
"gene_hgnc_id": 6407,
"hgvs_c": "c.35G>A",
"hgvs_p": "p.Gly12Asp",
"transcript": "ENST00000688940.1",
"protein_id": "ENSP00000509238.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 188,
"cds_start": 35,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000688940.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRAS",
"gene_hgnc_id": 6407,
"hgvs_c": "c.35G>A",
"hgvs_p": "p.Gly12Asp",
"transcript": "ENST00000894155.1",
"protein_id": "ENSP00000564214.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 188,
"cds_start": 35,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894155.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRAS",
"gene_hgnc_id": 6407,
"hgvs_c": "c.35G>A",
"hgvs_p": "p.Gly12Asp",
"transcript": "ENST00000693229.1",
"protein_id": "ENSP00000509223.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 163,
"cds_start": 35,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000693229.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRAS",
"gene_hgnc_id": 6407,
"hgvs_c": "c.35G>A",
"hgvs_p": "p.Gly12Asp",
"transcript": "ENST00000940422.1",
"protein_id": "ENSP00000610481.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 162,
"cds_start": 35,
"cds_end": null,
"cds_length": 489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940422.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRAS",
"gene_hgnc_id": 6407,
"hgvs_c": "c.35G>A",
"hgvs_p": "p.Gly12Asp",
"transcript": "ENST00000557334.6",
"protein_id": "ENSP00000452512.1",
"transcript_support_level": 5,
"aa_start": 12,
"aa_end": null,
"aa_length": 75,
"cds_start": 35,
"cds_end": null,
"cds_length": 228,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000557334.6"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRAS",
"gene_hgnc_id": 6407,
"hgvs_c": "c.35G>A",
"hgvs_p": "p.Gly12Asp",
"transcript": "ENST00000686969.1",
"protein_id": "ENSP00000510479.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 43,
"cds_start": 35,
"cds_end": null,
"cds_length": 132,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000686969.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRAS",
"gene_hgnc_id": 6407,
"hgvs_c": "c.35G>A",
"hgvs_p": "p.Gly12Asp",
"transcript": "XM_047428826.1",
"protein_id": "XP_047284782.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 227,
"cds_start": 35,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428826.1"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KRAS",
"gene_hgnc_id": 6407,
"hgvs_c": "c.-88+5401G>A",
"hgvs_p": null,
"transcript": "ENST00000692768.1",
"protein_id": "ENSP00000510254.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 122,
"cds_start": null,
"cds_end": null,
"cds_length": 369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000692768.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRAS",
"gene_hgnc_id": 6407,
"hgvs_c": "n.35G>A",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000686877.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRAS",
"gene_hgnc_id": 6407,
"hgvs_c": "n.35G>A",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000687356.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRAS",
"gene_hgnc_id": 6407,
"hgvs_c": "n.35G>A",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000690804.1"
}
],
"gene_symbol": "KRAS",
"gene_hgnc_id": 6407,
"dbsnp": "rs121913529",
"frequency_reference_population": 0.0000037203672,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000273867,
"gnomad_genomes_af": 0.0000131422,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8977190256118774,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.875,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9984,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.33,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.892,
"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": "Pathogenic",
"acmg_criteria": "PM1,PM5,PP2,PP3_Moderate,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 15,
"benign_score": 0,
"pathogenic_score": 15,
"criteria": [
"PM1",
"PM5",
"PP2",
"PP3_Moderate",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_033360.4",
"gene_symbol": "KRAS",
"hgnc_id": 6407,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.35G>A",
"hgvs_p": "p.Gly12Asp"
}
],
"clinvar_disease": "12 conditions,Acute myeloid leukemia,Atypical endometrial hyperplasia,Autoimmune lymphoproliferative syndrome type 4,Capillary malformation-arteriovenous malformation 1,Carcinoma of pancreas,Cardiovascular phenotype,Cerebral arteriovenous malformation,Congenital Pulmonary Airway Malformations,Encephalocraniocutaneous lipomatosis,Endometrial hyperplasia without atypia,Epidermal nevus,Gastric cancer,Juvenile myelomonocytic leukemia,KRAS-related overgrowth,Linear nevus sebaceous syndrome,Neoplasm,Nevus sebaceous,Non-small cell lung carcinoma,Ovarian neoplasm,Primary low grade serous adenocarcinoma of ovary,RASopathy,Vascular Tumors Including Pyogenic Granuloma,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:12 LP:2 US:1 O:1",
"phenotype_combined": "Carcinoma of pancreas|Epidermal nevus|Nevus sebaceous|Linear nevus sebaceous syndrome|Juvenile myelomonocytic leukemia|Autoimmune lymphoproliferative syndrome type 4|Non-small cell lung carcinoma|Ovarian neoplasm|Primary low grade serous adenocarcinoma of ovary|Capillary malformation-arteriovenous malformation 1|not provided|Acute myeloid leukemia|RASopathy|Cerebral arteriovenous malformation|Encephalocraniocutaneous lipomatosis|Vascular Tumors Including Pyogenic Granuloma|Gastric cancer|Atypical endometrial hyperplasia;Endometrial hyperplasia without atypia|Cardiovascular phenotype|Congenital Pulmonary Airway Malformations|Neoplasm|KRAS-related overgrowth|12 conditions",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}