← 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: 2-188999471-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=188999471&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS3",
"PM1",
"PM2",
"PM5",
"PP2",
"PP3",
"PP5_Moderate"
],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "COL3A1",
"hgnc_id": 2201,
"hgvs_c": "c.2123G>A",
"hgvs_p": "p.Gly708Asp",
"inheritance_mode": "AD,AR",
"pathogenic_score": 14,
"score": 14,
"transcript": "NM_000090.4",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PM1,PM2,PM5,PP2,PP3,PP5_Moderate",
"acmg_score": 14,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9814,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.57,
"chr": "2",
"clinvar_classification": "Likely pathogenic",
"clinvar_disease": "Familial thoracic aortic aneurysm and aortic dissection",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9957252740859985,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1466,
"aa_ref": "G",
"aa_start": 708,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5490,
"cdna_start": 2240,
"cds_end": null,
"cds_length": 4401,
"cds_start": 2123,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 51,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "NM_000090.4",
"gene_hgnc_id": 2201,
"gene_symbol": "COL3A1",
"hgvs_c": "c.2123G>A",
"hgvs_p": "p.Gly708Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000304636.9",
"protein_coding": true,
"protein_id": "NP_000081.2",
"strand": true,
"transcript": "NM_000090.4",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1466,
"aa_ref": "G",
"aa_start": 708,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5490,
"cdna_start": 2240,
"cds_end": null,
"cds_length": 4401,
"cds_start": 2123,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 51,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000304636.9",
"gene_hgnc_id": 2201,
"gene_symbol": "COL3A1",
"hgvs_c": "c.2123G>A",
"hgvs_p": "p.Gly708Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000090.4",
"protein_coding": true,
"protein_id": "ENSP00000304408.4",
"strand": true,
"transcript": "ENST00000304636.9",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1433,
"aa_ref": "G",
"aa_start": 675,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5391,
"cdna_start": 2141,
"cds_end": null,
"cds_length": 4302,
"cds_start": 2024,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 50,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000450867.2",
"gene_hgnc_id": 2201,
"gene_symbol": "COL3A1",
"hgvs_c": "c.2024G>A",
"hgvs_p": "p.Gly675Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000415346.2",
"strand": true,
"transcript": "ENST00000450867.2",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1463,
"aa_ref": "G",
"aa_start": 705,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4787,
"cdna_start": 2231,
"cds_end": null,
"cds_length": 4392,
"cds_start": 2114,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 51,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000879201.1",
"gene_hgnc_id": 2201,
"gene_symbol": "COL3A1",
"hgvs_c": "c.2114G>A",
"hgvs_p": "p.Gly705Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549260.1",
"strand": true,
"transcript": "ENST00000879201.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1451,
"aa_ref": "G",
"aa_start": 693,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4757,
"cdna_start": 2195,
"cds_end": null,
"cds_length": 4356,
"cds_start": 2078,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 50,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000879198.1",
"gene_hgnc_id": 2201,
"gene_symbol": "COL3A1",
"hgvs_c": "c.2078G>A",
"hgvs_p": "p.Gly693Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549257.1",
"strand": true,
"transcript": "ENST00000879198.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1449,
"aa_ref": "G",
"aa_start": 691,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5436,
"cdna_start": 2189,
"cds_end": null,
"cds_length": 4350,
"cds_start": 2072,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 50,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000879194.1",
"gene_hgnc_id": 2201,
"gene_symbol": "COL3A1",
"hgvs_c": "c.2072G>A",
"hgvs_p": "p.Gly691Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549253.1",
"strand": true,
"transcript": "ENST00000879194.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1448,
"aa_ref": "G",
"aa_start": 690,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4742,
"cdna_start": 2186,
"cds_end": null,
"cds_length": 4347,
"cds_start": 2069,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 50,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000879200.1",
"gene_hgnc_id": 2201,
"gene_symbol": "COL3A1",
"hgvs_c": "c.2069G>A",
"hgvs_p": "p.Gly690Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549259.1",
"strand": true,
"transcript": "ENST00000879200.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1448,
"aa_ref": "G",
"aa_start": 708,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4669,
"cdna_start": 2240,
"cds_end": null,
"cds_length": 4347,
"cds_start": 2123,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 50,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000879202.1",
"gene_hgnc_id": 2201,
"gene_symbol": "COL3A1",
"hgvs_c": "c.2123G>A",
"hgvs_p": "p.Gly708Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549261.1",
"strand": true,
"transcript": "ENST00000879202.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1448,
"aa_ref": "G",
"aa_start": 690,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4743,
"cdna_start": 2186,
"cds_end": null,
"cds_length": 4347,
"cds_start": 2069,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 50,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000957918.1",
"gene_hgnc_id": 2201,
"gene_symbol": "COL3A1",
"hgvs_c": "c.2069G>A",
"hgvs_p": "p.Gly690Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627977.1",
"strand": true,
"transcript": "ENST00000957918.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1433,
"aa_ref": "G",
"aa_start": 675,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5388,
"cdna_start": 2141,
"cds_end": null,
"cds_length": 4302,
"cds_start": 2024,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 50,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000879195.1",
"gene_hgnc_id": 2201,
"gene_symbol": "COL3A1",
"hgvs_c": "c.2024G>A",
"hgvs_p": "p.Gly675Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549254.1",
"strand": true,
"transcript": "ENST00000879195.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1430,
"aa_ref": "G",
"aa_start": 672,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5376,
"cdna_start": 2132,
"cds_end": null,
"cds_length": 4293,
"cds_start": 2015,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 50,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000879196.1",
"gene_hgnc_id": 2201,
"gene_symbol": "COL3A1",
"hgvs_c": "c.2015G>A",
"hgvs_p": "p.Gly672Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549255.1",
"strand": true,
"transcript": "ENST00000879196.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1430,
"aa_ref": "G",
"aa_start": 708,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5349,
"cdna_start": 2209,
"cds_end": null,
"cds_length": 4293,
"cds_start": 2123,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 50,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000879197.1",
"gene_hgnc_id": 2201,
"gene_symbol": "COL3A1",
"hgvs_c": "c.2123G>A",
"hgvs_p": "p.Gly708Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549256.1",
"strand": true,
"transcript": "ENST00000879197.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1430,
"aa_ref": "G",
"aa_start": 708,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5382,
"cdna_start": 2240,
"cds_end": null,
"cds_length": 4293,
"cds_start": 2123,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 50,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000957916.1",
"gene_hgnc_id": 2201,
"gene_symbol": "COL3A1",
"hgvs_c": "c.2123G>A",
"hgvs_p": "p.Gly708Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627975.1",
"strand": true,
"transcript": "ENST00000957916.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1426,
"aa_ref": "G",
"aa_start": 708,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5369,
"cdna_start": 2242,
"cds_end": null,
"cds_length": 4281,
"cds_start": 2123,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 51,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000957917.1",
"gene_hgnc_id": 2201,
"gene_symbol": "COL3A1",
"hgvs_c": "c.2123G>A",
"hgvs_p": "p.Gly708Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627976.1",
"strand": true,
"transcript": "ENST00000957917.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1425,
"aa_ref": "G",
"aa_start": 708,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4428,
"cdna_start": 2240,
"cds_end": null,
"cds_length": 4278,
"cds_start": 2123,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 50,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000879203.1",
"gene_hgnc_id": 2201,
"gene_symbol": "COL3A1",
"hgvs_c": "c.2123G>A",
"hgvs_p": "p.Gly708Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549262.1",
"strand": true,
"transcript": "ENST00000879203.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1418,
"aa_ref": "G",
"aa_start": 660,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4655,
"cdna_start": 2096,
"cds_end": null,
"cds_length": 4257,
"cds_start": 1979,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 49,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000879199.1",
"gene_hgnc_id": 2201,
"gene_symbol": "COL3A1",
"hgvs_c": "c.1979G>A",
"hgvs_p": "p.Gly660Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549258.1",
"strand": true,
"transcript": "ENST00000879199.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1415,
"aa_ref": "G",
"aa_start": 657,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5337,
"cdna_start": 2087,
"cds_end": null,
"cds_length": 4248,
"cds_start": 1970,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 49,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000713745.1",
"gene_hgnc_id": 2201,
"gene_symbol": "COL3A1",
"hgvs_c": "c.1970G>A",
"hgvs_p": "p.Gly657Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519049.1",
"strand": true,
"transcript": "ENST00000713745.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1412,
"aa_ref": "G",
"aa_start": 708,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5328,
"cdna_start": 2240,
"cds_end": null,
"cds_length": 4239,
"cds_start": 2123,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 49,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000713744.1",
"gene_hgnc_id": 2201,
"gene_symbol": "COL3A1",
"hgvs_c": "c.2123G>A",
"hgvs_p": "p.Gly708Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519048.1",
"strand": true,
"transcript": "ENST00000713744.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": "Pathogenic",
"dbscsnv_ada_score": 0.971099514953791,
"dbsnp": "rs111929073",
"effect": "missense_variant,splice_region_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 2201,
"gene_symbol": "COL3A1",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Likely pathogenic",
"phenotype_combined": "Familial thoracic aortic aneurysm and aortic dissection",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 10.003,
"pos": 188999471,
"ref": "G",
"revel_prediction": "Pathogenic",
"revel_score": 0.993,
"splice_prediction_selected": "Pathogenic",
"splice_score_selected": 0.7300000190734863,
"splice_source_selected": "dbscSNV1_RF",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_000090.4"
}
]
}