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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: 19-6713251-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=6713251&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 6713251,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000064.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C3",
"gene_hgnc_id": 1318,
"hgvs_c": "c.941C>T",
"hgvs_p": "p.Pro314Leu",
"transcript": "NM_000064.4",
"protein_id": "NP_000055.2",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 1663,
"cds_start": 941,
"cds_end": null,
"cds_length": 4992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000245907.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000064.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C3",
"gene_hgnc_id": 1318,
"hgvs_c": "c.941C>T",
"hgvs_p": "p.Pro314Leu",
"transcript": "ENST00000245907.11",
"protein_id": "ENSP00000245907.4",
"transcript_support_level": 1,
"aa_start": 314,
"aa_end": null,
"aa_length": 1663,
"cds_start": 941,
"cds_end": null,
"cds_length": 4992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000064.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000245907.11"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C3",
"gene_hgnc_id": 1318,
"hgvs_c": "c.941C>T",
"hgvs_p": "p.Pro314Leu",
"transcript": "ENST00000952696.1",
"protein_id": "ENSP00000622755.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 1667,
"cds_start": 941,
"cds_end": null,
"cds_length": 5004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952696.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C3",
"gene_hgnc_id": 1318,
"hgvs_c": "c.941C>T",
"hgvs_p": "p.Pro314Leu",
"transcript": "ENST00000879543.1",
"protein_id": "ENSP00000549602.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 1662,
"cds_start": 941,
"cds_end": null,
"cds_length": 4989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879543.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C3",
"gene_hgnc_id": 1318,
"hgvs_c": "c.941C>T",
"hgvs_p": "p.Pro314Leu",
"transcript": "ENST00000879546.1",
"protein_id": "ENSP00000549605.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 1662,
"cds_start": 941,
"cds_end": null,
"cds_length": 4989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879546.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C3",
"gene_hgnc_id": 1318,
"hgvs_c": "c.941C>T",
"hgvs_p": "p.Pro314Leu",
"transcript": "ENST00000879545.1",
"protein_id": "ENSP00000549604.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 1661,
"cds_start": 941,
"cds_end": null,
"cds_length": 4986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879545.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C3",
"gene_hgnc_id": 1318,
"hgvs_c": "c.941C>T",
"hgvs_p": "p.Pro314Leu",
"transcript": "ENST00000879544.1",
"protein_id": "ENSP00000549603.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 1597,
"cds_start": 941,
"cds_end": null,
"cds_length": 4794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879544.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C3",
"gene_hgnc_id": 1318,
"hgvs_c": "c.65C>T",
"hgvs_p": "p.Pro22Leu",
"transcript": "ENST00000695654.1",
"protein_id": "ENSP00000512085.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 1338,
"cds_start": 65,
"cds_end": null,
"cds_length": 4017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695654.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C3",
"gene_hgnc_id": 1318,
"hgvs_c": "c.818C>T",
"hgvs_p": "p.Pro273Leu",
"transcript": "ENST00000695652.1",
"protein_id": "ENSP00000512083.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 1228,
"cds_start": 818,
"cds_end": null,
"cds_length": 3687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695652.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C3",
"gene_hgnc_id": 1318,
"hgvs_c": "c.65C>T",
"hgvs_p": "p.Pro22Leu",
"transcript": "ENST00000594270.5",
"protein_id": "ENSP00000512087.1",
"transcript_support_level": 5,
"aa_start": 22,
"aa_end": null,
"aa_length": 115,
"cds_start": 65,
"cds_end": null,
"cds_length": 349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000594270.5"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C3",
"gene_hgnc_id": 1318,
"hgvs_c": "n.445C>T",
"hgvs_p": null,
"transcript": "ENST00000595577.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000595577.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C3",
"gene_hgnc_id": 1318,
"hgvs_c": "n.191C>T",
"hgvs_p": null,
"transcript": "ENST00000597442.5",
"protein_id": null,
"transcript_support_level": 3,
"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": "pseudogene",
"feature": "ENST00000597442.5"
},
{
"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": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C3",
"gene_hgnc_id": 1318,
"hgvs_c": "n.265C>T",
"hgvs_p": null,
"transcript": "ENST00000695692.1",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000695692.1"
}
],
"gene_symbol": "C3",
"gene_hgnc_id": 1318,
"dbsnp": "rs1047286",
"frequency_reference_population": 0.18052985,
"hom_count_reference_population": 29494,
"allele_count_reference_population": 291273,
"gnomad_exomes_af": 0.185393,
"gnomad_genomes_af": 0.133803,
"gnomad_exomes_ac": 270924,
"gnomad_genomes_ac": 20349,
"gnomad_exomes_homalt": 27620,
"gnomad_genomes_homalt": 1874,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0008619129657745361,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.02,
"revel_prediction": "Benign",
"alphamissense_score": 0.1183,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.719,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_000064.4",
"gene_symbol": "C3",
"hgnc_id": 1318,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.941C>T",
"hgvs_p": "p.Pro314Leu"
}
],
"clinvar_disease": " HAV 4-1 PLUS/MINUS TYPE,Age related macular degeneration 9,Atypical hemolytic-uremic syndrome with C3 anomaly,C3 POLYMORPHISM,Complement component 3 deficiency,Focal segmental glomerulosclerosis,Inborn genetic diseases,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:8",
"phenotype_combined": "not provided|Age related macular degeneration 9|Atypical hemolytic-uremic syndrome with C3 anomaly|Complement component 3 deficiency|C3 POLYMORPHISM, HAV 4-1 PLUS/MINUS TYPE|Focal segmental glomerulosclerosis|Inborn genetic diseases",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}