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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: 1-11030859-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=11030859&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 11030859,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000400897.8",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MASP2",
"gene_hgnc_id": 6902,
"hgvs_c": "c.1111G>T",
"hgvs_p": "p.Asp371Tyr",
"transcript": "NM_006610.4",
"protein_id": "NP_006601.2",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 686,
"cds_start": 1111,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 1143,
"cdna_end": null,
"cdna_length": 2455,
"mane_select": "ENST00000400897.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MASP2",
"gene_hgnc_id": 6902,
"hgvs_c": "c.1111G>T",
"hgvs_p": "p.Asp371Tyr",
"transcript": "ENST00000400897.8",
"protein_id": "ENSP00000383690.3",
"transcript_support_level": 1,
"aa_start": 371,
"aa_end": null,
"aa_length": 686,
"cds_start": 1111,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 1143,
"cdna_end": null,
"cdna_length": 2455,
"mane_select": "NM_006610.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MASP2",
"gene_hgnc_id": 6902,
"hgvs_c": "c.1087G>T",
"hgvs_p": "p.Asp363Tyr",
"transcript": "ENST00000700093.1",
"protein_id": "ENSP00000514792.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 678,
"cds_start": 1087,
"cds_end": null,
"cds_length": 2037,
"cdna_start": 1087,
"cdna_end": null,
"cdna_length": 2638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MASP2",
"gene_hgnc_id": 6902,
"hgvs_c": "c.1006G>T",
"hgvs_p": "p.Asp336Tyr",
"transcript": "ENST00000699958.1",
"protein_id": "ENSP00000514717.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 651,
"cds_start": 1006,
"cds_end": null,
"cds_length": 1956,
"cdna_start": 1006,
"cdna_end": null,
"cdna_length": 1956,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MASP2",
"gene_hgnc_id": 6902,
"hgvs_c": "c.913G>T",
"hgvs_p": "p.Asp305Tyr",
"transcript": "ENST00000700091.1",
"protein_id": "ENSP00000514790.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 620,
"cds_start": 913,
"cds_end": null,
"cds_length": 1863,
"cdna_start": 913,
"cdna_end": null,
"cdna_length": 2464,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MASP2",
"gene_hgnc_id": 6902,
"hgvs_c": "c.1111G>T",
"hgvs_p": "p.Asp371Tyr",
"transcript": "ENST00000700095.1",
"protein_id": "ENSP00000514794.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 492,
"cds_start": 1111,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 1111,
"cdna_end": null,
"cdna_length": 1752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MASP2",
"gene_hgnc_id": 6902,
"hgvs_c": "c.1111G>T",
"hgvs_p": "p.Asp371Tyr",
"transcript": "ENST00000700088.1",
"protein_id": "ENSP00000514787.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 471,
"cds_start": 1111,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 1111,
"cdna_end": null,
"cdna_length": 1581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MASP2",
"gene_hgnc_id": 6902,
"hgvs_c": "c.1111G>T",
"hgvs_p": "p.Asp371Tyr",
"transcript": "ENST00000700097.1",
"protein_id": "ENSP00000514796.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 463,
"cds_start": 1111,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 1111,
"cdna_end": null,
"cdna_length": 1658,
"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": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MASP2",
"gene_hgnc_id": 6902,
"hgvs_c": "n.*109G>T",
"hgvs_p": null,
"transcript": "ENST00000700089.1",
"protein_id": "ENSP00000514788.1",
"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": 2659,
"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": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MASP2",
"gene_hgnc_id": 6902,
"hgvs_c": "n.*384G>T",
"hgvs_p": null,
"transcript": "ENST00000700090.1",
"protein_id": "ENSP00000514789.1",
"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": 2541,
"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": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MASP2",
"gene_hgnc_id": 6902,
"hgvs_c": "n.*201G>T",
"hgvs_p": null,
"transcript": "ENST00000700094.1",
"protein_id": "ENSP00000514793.1",
"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": 2670,
"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": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MASP2",
"gene_hgnc_id": 6902,
"hgvs_c": "n.*308G>T",
"hgvs_p": null,
"transcript": "ENST00000700096.1",
"protein_id": "ENSP00000514795.1",
"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": 1426,
"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": "MASP2",
"gene_hgnc_id": 6902,
"hgvs_c": "n.633G>T",
"hgvs_p": null,
"transcript": "ENST00000700098.1",
"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": 823,
"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": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MASP2",
"gene_hgnc_id": 6902,
"hgvs_c": "n.1064G>T",
"hgvs_p": null,
"transcript": "XR_001736931.1",
"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": 1222,
"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": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MASP2",
"gene_hgnc_id": 6902,
"hgvs_c": "n.*109G>T",
"hgvs_p": null,
"transcript": "ENST00000700089.1",
"protein_id": "ENSP00000514788.1",
"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": 2659,
"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": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MASP2",
"gene_hgnc_id": 6902,
"hgvs_c": "n.*384G>T",
"hgvs_p": null,
"transcript": "ENST00000700090.1",
"protein_id": "ENSP00000514789.1",
"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": 2541,
"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": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MASP2",
"gene_hgnc_id": 6902,
"hgvs_c": "n.*201G>T",
"hgvs_p": null,
"transcript": "ENST00000700094.1",
"protein_id": "ENSP00000514793.1",
"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": 2670,
"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": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MASP2",
"gene_hgnc_id": 6902,
"hgvs_c": "n.*308G>T",
"hgvs_p": null,
"transcript": "ENST00000700096.1",
"protein_id": "ENSP00000514795.1",
"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": 1426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "MASP2",
"gene_hgnc_id": 6902,
"hgvs_c": "c.1101-11G>T",
"hgvs_p": null,
"transcript": "ENST00000700092.1",
"protein_id": "ENSP00000514791.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 679,
"cds_start": -4,
"cds_end": null,
"cds_length": 2040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MASP2",
"gene_hgnc_id": 6902,
"dbsnp": "rs12711521",
"frequency_reference_population": 0.7741637,
"hom_count_reference_population": 496890,
"allele_count_reference_population": 1248610,
"gnomad_exomes_af": 0.788461,
"gnomad_genomes_af": 0.63674,
"gnomad_exomes_ac": 1151837,
"gnomad_genomes_ac": 96773,
"gnomad_exomes_homalt": 461572,
"gnomad_genomes_homalt": 35318,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.000002219292809968465,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.6600000262260437,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "max_spliceai",
"revel_score": 0.273,
"revel_prediction": "Benign",
"alphamissense_score": 0.0974,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.882,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.66,
"spliceai_max_prediction": "Pathogenic",
"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": "PP3,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -15,
"benign_score": 16,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000400897.8",
"gene_symbol": "MASP2",
"hgnc_id": 6902,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1111G>T",
"hgvs_p": "p.Asp371Tyr"
}
],
"clinvar_disease": "Immunodeficiency due to MASP-2 deficiency,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4",
"phenotype_combined": "Immunodeficiency due to MASP-2 deficiency|not specified|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}