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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: 7-1434644-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=1434644&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 1434644,
"ref": "G",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_182924.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICALL2",
"gene_hgnc_id": 29672,
"hgvs_c": "c.2667C>G",
"hgvs_p": "p.Arg889Arg",
"transcript": "NM_182924.4",
"protein_id": "NP_891554.1",
"transcript_support_level": null,
"aa_start": 889,
"aa_end": null,
"aa_length": 904,
"cds_start": 2667,
"cds_end": null,
"cds_length": 2715,
"cdna_start": 2811,
"cdna_end": null,
"cdna_length": 3096,
"mane_select": "ENST00000297508.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182924.4"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICALL2",
"gene_hgnc_id": 29672,
"hgvs_c": "c.2667C>G",
"hgvs_p": "p.Arg889Arg",
"transcript": "ENST00000297508.8",
"protein_id": "ENSP00000297508.7",
"transcript_support_level": 1,
"aa_start": 889,
"aa_end": null,
"aa_length": 904,
"cds_start": 2667,
"cds_end": null,
"cds_length": 2715,
"cdna_start": 2811,
"cdna_end": null,
"cdna_length": 3096,
"mane_select": "NM_182924.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000297508.8"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICALL2",
"gene_hgnc_id": 29672,
"hgvs_c": "c.2652C>G",
"hgvs_p": "p.Arg884Arg",
"transcript": "ENST00000873416.1",
"protein_id": "ENSP00000543475.1",
"transcript_support_level": null,
"aa_start": 884,
"aa_end": null,
"aa_length": 899,
"cds_start": 2652,
"cds_end": null,
"cds_length": 2700,
"cdna_start": 2820,
"cdna_end": null,
"cdna_length": 3098,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873416.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICALL2",
"gene_hgnc_id": 29672,
"hgvs_c": "c.2643C>G",
"hgvs_p": "p.Arg881Arg",
"transcript": "ENST00000873414.1",
"protein_id": "ENSP00000543473.1",
"transcript_support_level": null,
"aa_start": 881,
"aa_end": null,
"aa_length": 896,
"cds_start": 2643,
"cds_end": null,
"cds_length": 2691,
"cdna_start": 2811,
"cdna_end": null,
"cdna_length": 3096,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873414.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICALL2",
"gene_hgnc_id": 29672,
"hgvs_c": "c.2640C>G",
"hgvs_p": "p.Arg880Arg",
"transcript": "ENST00000873415.1",
"protein_id": "ENSP00000543474.1",
"transcript_support_level": null,
"aa_start": 880,
"aa_end": null,
"aa_length": 895,
"cds_start": 2640,
"cds_end": null,
"cds_length": 2688,
"cdna_start": 2810,
"cdna_end": null,
"cdna_length": 3092,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873415.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICALL2",
"gene_hgnc_id": 29672,
"hgvs_c": "c.2598C>G",
"hgvs_p": "p.Arg866Arg",
"transcript": "ENST00000912207.1",
"protein_id": "ENSP00000582266.1",
"transcript_support_level": null,
"aa_start": 866,
"aa_end": null,
"aa_length": 881,
"cds_start": 2598,
"cds_end": null,
"cds_length": 2646,
"cdna_start": 2766,
"cdna_end": null,
"cdna_length": 3044,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912207.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICALL2",
"gene_hgnc_id": 29672,
"hgvs_c": "c.1968C>G",
"hgvs_p": "p.Arg656Arg",
"transcript": "ENST00000873417.1",
"protein_id": "ENSP00000543476.1",
"transcript_support_level": null,
"aa_start": 656,
"aa_end": null,
"aa_length": 671,
"cds_start": 1968,
"cds_end": null,
"cds_length": 2016,
"cdna_start": 2112,
"cdna_end": null,
"cdna_length": 2390,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873417.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICALL2",
"gene_hgnc_id": 29672,
"hgvs_c": "c.1434C>G",
"hgvs_p": "p.Arg478Arg",
"transcript": "XM_047420838.1",
"protein_id": "XP_047276794.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 493,
"cds_start": 1434,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 3771,
"cdna_end": null,
"cdna_length": 4056,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420838.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICALL2",
"gene_hgnc_id": 29672,
"hgvs_c": "n.*494C>G",
"hgvs_p": null,
"transcript": "ENST00000413446.5",
"protein_id": "ENSP00000405415.1",
"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": 3046,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000413446.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICALL2",
"gene_hgnc_id": 29672,
"hgvs_c": "n.1796C>G",
"hgvs_p": null,
"transcript": "ENST00000467394.5",
"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": 2080,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000467394.5"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICALL2",
"gene_hgnc_id": 29672,
"hgvs_c": "n.354C>G",
"hgvs_p": null,
"transcript": "ENST00000467783.1",
"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": 639,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000467783.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICALL2",
"gene_hgnc_id": 29672,
"hgvs_c": "n.390C>G",
"hgvs_p": null,
"transcript": "ENST00000470807.5",
"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": 668,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000470807.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICALL2",
"gene_hgnc_id": 29672,
"hgvs_c": "n.621C>G",
"hgvs_p": null,
"transcript": "ENST00000471899.5",
"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": 899,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000471899.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICALL2",
"gene_hgnc_id": 29672,
"hgvs_c": "n.4641C>G",
"hgvs_p": null,
"transcript": "ENST00000472100.5",
"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": 5248,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000472100.5"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICALL2",
"gene_hgnc_id": 29672,
"hgvs_c": "n.1577C>G",
"hgvs_p": null,
"transcript": "ENST00000479007.5",
"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": 1855,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000479007.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICALL2",
"gene_hgnc_id": 29672,
"hgvs_c": "n.*494C>G",
"hgvs_p": null,
"transcript": "ENST00000413446.5",
"protein_id": "ENSP00000405415.1",
"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": 3046,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000413446.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MICALL2",
"gene_hgnc_id": 29672,
"hgvs_c": "n.77+2891C>G",
"hgvs_p": null,
"transcript": "ENST00000493998.1",
"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": 404,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000493998.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MICALL2",
"gene_hgnc_id": 29672,
"hgvs_c": "n.2409+2098C>G",
"hgvs_p": null,
"transcript": "ENST00000496184.1",
"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": 2722,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000496184.1"
}
],
"gene_symbol": "MICALL2",
"gene_hgnc_id": 29672,
"dbsnp": "rs745718970",
"frequency_reference_population": 0.0000088999195,
"hom_count_reference_population": 0,
"allele_count_reference_population": 14,
"gnomad_exomes_af": 0.00000703811,
"gnomad_genomes_af": 0.0000262791,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6499999761581421,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.65,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.452,
"phylop100way_prediction": "Benign",
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_182924.4",
"gene_symbol": "MICALL2",
"hgnc_id": 29672,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2667C>G",
"hgvs_p": "p.Arg889Arg"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}