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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: 9-129049921-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=129049921&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 129049921,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000684074.1",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA2",
"gene_hgnc_id": 23621,
"hgvs_c": "c.633C>T",
"hgvs_p": "p.Asp211Asp",
"transcript": "NM_001329990.2",
"protein_id": "NP_001316919.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 593,
"cds_start": 633,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 832,
"cdna_end": null,
"cdna_length": 3610,
"mane_select": "ENST00000684074.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA2",
"gene_hgnc_id": 23621,
"hgvs_c": "c.633C>T",
"hgvs_p": "p.Asp211Asp",
"transcript": "ENST00000684074.1",
"protein_id": "ENSP00000506871.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 593,
"cds_start": 633,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 832,
"cdna_end": null,
"cdna_length": 3610,
"mane_select": "NM_001329990.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA2",
"gene_hgnc_id": 23621,
"hgvs_c": "c.633C>T",
"hgvs_p": "p.Asp211Asp",
"transcript": "ENST00000358369.8",
"protein_id": "ENSP00000351138.4",
"transcript_support_level": 1,
"aa_start": 211,
"aa_end": null,
"aa_length": 593,
"cds_start": 633,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 859,
"cdna_end": null,
"cdna_length": 3637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA2",
"gene_hgnc_id": 23621,
"hgvs_c": "c.825C>T",
"hgvs_p": "p.Asp275Asp",
"transcript": "NM_032809.4",
"protein_id": "NP_116198.3",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 657,
"cds_start": 825,
"cds_end": null,
"cds_length": 1974,
"cdna_start": 859,
"cdna_end": null,
"cdna_length": 3637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA2",
"gene_hgnc_id": 23621,
"hgvs_c": "c.825C>T",
"hgvs_p": "p.Asp275Asp",
"transcript": "XM_047423975.1",
"protein_id": "XP_047279931.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 562,
"cds_start": 825,
"cds_end": null,
"cds_length": 1689,
"cdna_start": 859,
"cdna_end": null,
"cdna_length": 1855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA2",
"gene_hgnc_id": 23621,
"hgvs_c": "c.825C>T",
"hgvs_p": "p.Asp275Asp",
"transcript": "XM_047423976.1",
"protein_id": "XP_047279932.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 468,
"cds_start": 825,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 859,
"cdna_end": null,
"cdna_length": 1564,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA2",
"gene_hgnc_id": 23621,
"hgvs_c": "c.213C>T",
"hgvs_p": "p.Asp71Asp",
"transcript": "XM_011519118.2",
"protein_id": "XP_011517420.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 453,
"cds_start": 213,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 450,
"cdna_end": null,
"cdna_length": 3228,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA2",
"gene_hgnc_id": 23621,
"hgvs_c": "n.633C>T",
"hgvs_p": null,
"transcript": "ENST00000439290.5",
"protein_id": "ENSP00000391603.1",
"transcript_support_level": 2,
"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": 4345,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA2",
"gene_hgnc_id": 23621,
"hgvs_c": "n.633C>T",
"hgvs_p": null,
"transcript": "ENST00000445183.5",
"protein_id": "ENSP00000396618.1",
"transcript_support_level": 2,
"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": 3598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA2",
"gene_hgnc_id": 23621,
"hgvs_c": "n.832C>T",
"hgvs_p": null,
"transcript": "NR_138421.2",
"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": 4374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA2",
"gene_hgnc_id": 23621,
"hgvs_c": "n.832C>T",
"hgvs_p": null,
"transcript": "NR_138422.2",
"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": 3629,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA2",
"gene_hgnc_id": 23621,
"hgvs_c": "n.832C>T",
"hgvs_p": null,
"transcript": "NR_138423.2",
"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": 4443,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA2",
"gene_hgnc_id": 23621,
"hgvs_c": "n.832C>T",
"hgvs_p": null,
"transcript": "NR_138424.2",
"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": 4253,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA2",
"gene_hgnc_id": 23621,
"hgvs_c": "n.832C>T",
"hgvs_p": null,
"transcript": "NR_138425.2",
"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": 4248,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIGA2",
"gene_hgnc_id": 23621,
"hgvs_c": "n.859C>T",
"hgvs_p": null,
"transcript": "XR_007061362.1",
"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": 1859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MIGA2",
"gene_hgnc_id": 23621,
"dbsnp": "rs10988183",
"frequency_reference_population": 0.0010249546,
"hom_count_reference_population": 42,
"allele_count_reference_population": 1654,
"gnomad_exomes_af": 0.000949093,
"gnomad_genomes_af": 0.00175273,
"gnomad_exomes_ac": 1387,
"gnomad_genomes_ac": 267,
"gnomad_exomes_homalt": 34,
"gnomad_genomes_homalt": 8,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.41999998688697815,
"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": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.132,
"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": -19,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -19,
"benign_score": 19,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000684074.1",
"gene_symbol": "MIGA2",
"hgnc_id": 23621,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.633C>T",
"hgvs_p": "p.Asp211Asp"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}