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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: 12-51913984-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=51913984&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 51913984,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000388922.9",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVRL1",
"gene_hgnc_id": 175,
"hgvs_c": "c.536A>C",
"hgvs_p": "p.Asp179Ala",
"transcript": "NM_000020.3",
"protein_id": "NP_000011.2",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 503,
"cds_start": 536,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 733,
"cdna_end": null,
"cdna_length": 4177,
"mane_select": "ENST00000388922.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVRL1",
"gene_hgnc_id": 175,
"hgvs_c": "c.536A>C",
"hgvs_p": "p.Asp179Ala",
"transcript": "ENST00000388922.9",
"protein_id": "ENSP00000373574.4",
"transcript_support_level": 1,
"aa_start": 179,
"aa_end": null,
"aa_length": 503,
"cds_start": 536,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 733,
"cdna_end": null,
"cdna_length": 4177,
"mane_select": "NM_000020.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVRL1",
"gene_hgnc_id": 175,
"hgvs_c": "c.578A>C",
"hgvs_p": "p.Asp193Ala",
"transcript": "ENST00000550683.5",
"protein_id": "ENSP00000447884.1",
"transcript_support_level": 1,
"aa_start": 193,
"aa_end": null,
"aa_length": 517,
"cds_start": 578,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 679,
"cdna_end": null,
"cdna_length": 4121,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVRL1",
"gene_hgnc_id": 175,
"hgvs_c": "c.536A>C",
"hgvs_p": "p.Asp179Ala",
"transcript": "ENST00000551576.6",
"protein_id": "ENSP00000455848.2",
"transcript_support_level": 1,
"aa_start": 179,
"aa_end": null,
"aa_length": 503,
"cds_start": 536,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 826,
"cdna_end": null,
"cdna_length": 4270,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVRL1",
"gene_hgnc_id": 175,
"hgvs_c": "c.536A>C",
"hgvs_p": "p.Asp179Ala",
"transcript": "NM_001077401.2",
"protein_id": "NP_001070869.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 503,
"cds_start": 536,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 628,
"cdna_end": null,
"cdna_length": 4072,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVRL1",
"gene_hgnc_id": 175,
"hgvs_c": "c.536A>C",
"hgvs_p": "p.Asp179Ala",
"transcript": "NM_001406487.1",
"protein_id": "NP_001393416.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 503,
"cds_start": 536,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 790,
"cdna_end": null,
"cdna_length": 4234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVRL1",
"gene_hgnc_id": 175,
"hgvs_c": "c.536A>C",
"hgvs_p": "p.Asp179Ala",
"transcript": "NM_001406488.1",
"protein_id": "NP_001393417.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 494,
"cds_start": 536,
"cds_end": null,
"cds_length": 1485,
"cdna_start": 733,
"cdna_end": null,
"cdna_length": 2446,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVRL1",
"gene_hgnc_id": 175,
"hgvs_c": "c.536A>C",
"hgvs_p": "p.Asp179Ala",
"transcript": "NM_001406489.1",
"protein_id": "NP_001393418.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 494,
"cds_start": 536,
"cds_end": null,
"cds_length": 1485,
"cdna_start": 628,
"cdna_end": null,
"cdna_length": 2341,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVRL1",
"gene_hgnc_id": 175,
"hgvs_c": "c.536A>C",
"hgvs_p": "p.Asp179Ala",
"transcript": "ENST00000552678.2",
"protein_id": "ENSP00000457394.2",
"transcript_support_level": 2,
"aa_start": 179,
"aa_end": null,
"aa_length": 494,
"cds_start": 536,
"cds_end": null,
"cds_length": 1485,
"cdna_start": 616,
"cdna_end": null,
"cdna_length": 2286,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVRL1",
"gene_hgnc_id": 175,
"hgvs_c": "c.536A>C",
"hgvs_p": "p.Asp179Ala",
"transcript": "ENST00000713619.1",
"protein_id": "ENSP00000518916.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 468,
"cds_start": 536,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 740,
"cdna_end": null,
"cdna_length": 4078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVRL1",
"gene_hgnc_id": 175,
"hgvs_c": "c.536A>C",
"hgvs_p": "p.Asp179Ala",
"transcript": "XM_047429901.1",
"protein_id": "XP_047285857.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 503,
"cds_start": 536,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 800,
"cdna_end": null,
"cdna_length": 4244,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ACVRL1",
"gene_hgnc_id": 175,
"hgvs_c": "c.314-455A>C",
"hgvs_p": null,
"transcript": "NM_001406490.1",
"protein_id": "NP_001393419.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 451,
"cds_start": -4,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3916,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ACVRL1",
"gene_hgnc_id": 175,
"hgvs_c": "c.356-455A>C",
"hgvs_p": null,
"transcript": "ENST00000547400.6",
"protein_id": "ENSP00000446724.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 413,
"cds_start": -4,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1346,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ACVRL1",
"gene_hgnc_id": 175,
"hgvs_c": "c.314-455A>C",
"hgvs_p": null,
"transcript": "NM_001406491.1",
"protein_id": "NP_001393420.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 399,
"cds_start": -4,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3865,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ACVRL1",
"gene_hgnc_id": 175,
"hgvs_c": "c.314-455A>C",
"hgvs_p": null,
"transcript": "NM_001406492.1",
"protein_id": "NP_001393421.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 399,
"cds_start": -4,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3760,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ACVRL1",
"gene_hgnc_id": 175,
"hgvs_c": "c.314-455A>C",
"hgvs_p": null,
"transcript": "NM_001406493.1",
"protein_id": "NP_001393422.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 390,
"cds_start": -4,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2029,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ACVRL1",
"gene_hgnc_id": 175,
"hgvs_c": "c.314-455A>C",
"hgvs_p": null,
"transcript": "NM_001406494.1",
"protein_id": "NP_001393423.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 333,
"cds_start": -4,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ACVRL1",
"gene_hgnc_id": 175,
"hgvs_c": "c.104-455A>C",
"hgvs_p": null,
"transcript": "ENST00000419526.6",
"protein_id": "ENSP00000392492.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 329,
"cds_start": -4,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1356,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ACVRL1",
"gene_hgnc_id": 175,
"hgvs_c": "c.62-455A>C",
"hgvs_p": null,
"transcript": "NM_001406495.1",
"protein_id": "NP_001393424.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 315,
"cds_start": -4,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3508,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ACVRL1",
"gene_hgnc_id": 175,
"hgvs_c": "n.525+214A>C",
"hgvs_p": null,
"transcript": "ENST00000713618.1",
"protein_id": "ENSP00000518915.1",
"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": 2346,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ACVRL1",
"gene_hgnc_id": 175,
"dbsnp": "rs753792569",
"frequency_reference_population": 0.00006507834,
"hom_count_reference_population": 0,
"allele_count_reference_population": 105,
"gnomad_exomes_af": 0.0000636437,
"gnomad_genomes_af": 0.000078854,
"gnomad_exomes_ac": 93,
"gnomad_genomes_ac": 12,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.13021785020828247,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.14000000059604645,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.818,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.1826,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.17,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 3.757,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.14,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM1,PP2,BP4_Moderate,BP6_Moderate",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 4,
"pathogenic_score": 3,
"criteria": [
"PM1",
"PP2",
"BP4_Moderate",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000388922.9",
"gene_symbol": "ACVRL1",
"hgnc_id": 175,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.536A>C",
"hgvs_p": "p.Asp179Ala"
}
],
"clinvar_disease": " 1, hereditary hemorrhagic, primary, type 2,Pulmonary hypertension,Telangiectasia",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Telangiectasia, hereditary hemorrhagic, type 2|Pulmonary hypertension, primary, 1",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}